Incidental Mutation 'R4824:Clip1'
ID |
374206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clip1
|
Ensembl Gene |
ENSMUSG00000049550 |
Gene Name |
CAP-GLY domain containing linker protein 1 |
Synonyms |
Rsn, CLIP-170, 4631429H07Rik, restin, Clip 170, 1110007I12Rik, Clip50, cytoplasmic linker protein 50 |
MMRRC Submission |
042440-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4824 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
123715857-123822527 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 123769086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 504
(E504D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031382]
[ENSMUST00000063905]
[ENSMUST00000111561]
[ENSMUST00000111564]
[ENSMUST00000111566]
[ENSMUST00000149410]
|
AlphaFold |
Q922J3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031382
AA Change: E550D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031382 Gene: ENSMUSG00000049550 AA Change: E550D
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
2.28e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
2.28e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
451 |
N/A |
INTRINSIC |
coiled coil region
|
474 |
535 |
N/A |
INTRINSIC |
coiled coil region
|
581 |
620 |
N/A |
INTRINSIC |
coiled coil region
|
652 |
1352 |
N/A |
INTRINSIC |
low complexity region
|
1362 |
1373 |
N/A |
INTRINSIC |
Pfam:CLIP1_ZNF
|
1375 |
1392 |
5.8e-9 |
PFAM |
ZnF_C2HC
|
1417 |
1433 |
1.45e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063905
AA Change: E539D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068241 Gene: ENSMUSG00000049550 AA Change: E539D
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
3.3e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
3.3e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
524 |
N/A |
INTRINSIC |
coiled coil region
|
570 |
609 |
N/A |
INTRINSIC |
coiled coil region
|
641 |
1075 |
N/A |
INTRINSIC |
coiled coil region
|
1115 |
1235 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1256 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1300 |
1316 |
1.45e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111561
AA Change: E539D
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107186 Gene: ENSMUSG00000049550 AA Change: E539D
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
1.93e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
1.93e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
524 |
N/A |
INTRINSIC |
coiled coil region
|
570 |
609 |
N/A |
INTRINSIC |
coiled coil region
|
641 |
1341 |
N/A |
INTRINSIC |
low complexity region
|
1351 |
1362 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1406 |
1422 |
1.45e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111564
AA Change: E504D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107190 Gene: ENSMUSG00000049550 AA Change: E504D
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
2.5e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
2.5e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
489 |
N/A |
INTRINSIC |
coiled coil region
|
535 |
574 |
N/A |
INTRINSIC |
coiled coil region
|
606 |
1230 |
N/A |
INTRINSIC |
low complexity region
|
1240 |
1251 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1295 |
1311 |
1.45e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111566
AA Change: E504D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107192 Gene: ENSMUSG00000049550 AA Change: E504D
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
11 |
53 |
2e-5 |
PROSPERO |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
internal_repeat_2
|
140 |
177 |
2e-5 |
PROSPERO |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
349 |
489 |
N/A |
INTRINSIC |
coiled coil region
|
535 |
574 |
N/A |
INTRINSIC |
coiled coil region
|
606 |
1306 |
N/A |
INTRINSIC |
low complexity region
|
1316 |
1327 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1371 |
1387 |
1.45e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122603
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149410
AA Change: E473D
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000115965 Gene: ENSMUSG00000049550 AA Change: E473D
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
32 |
N/A |
INTRINSIC |
CAP_GLY
|
60 |
125 |
1.05e-31 |
SMART |
CAP_GLY
|
213 |
278 |
4.69e-34 |
SMART |
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
coiled coil region
|
334 |
458 |
N/A |
INTRINSIC |
coiled coil region
|
504 |
543 |
N/A |
INTRINSIC |
coiled coil region
|
575 |
827 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137363
AA Change: E291D
|
SMART Domains |
Protein: ENSMUSP00000121425 Gene: ENSMUSG00000049550 AA Change: E291D
Domain | Start | End | E-Value | Type |
CAP_GLY
|
2 |
31 |
2.59e0 |
SMART |
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
low complexity region
|
58 |
84 |
N/A |
INTRINSIC |
coiled coil region
|
101 |
276 |
N/A |
INTRINSIC |
coiled coil region
|
322 |
361 |
N/A |
INTRINSIC |
coiled coil region
|
393 |
980 |
N/A |
INTRINSIC |
low complexity region
|
991 |
1002 |
N/A |
INTRINSIC |
Pfam:CLIP1_ZNF
|
1004 |
1021 |
4.2e-9 |
PFAM |
ZnF_C2HC
|
1046 |
1062 |
1.45e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199018
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144121
|
SMART Domains |
Protein: ENSMUSP00000119641 Gene: ENSMUSG00000049550
Domain | Start | End | E-Value | Type |
CAP_GLY
|
37 |
102 |
1.05e-31 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
98% (123/126) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 107 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,771,437 (GRCm39) |
T209A |
probably benign |
Het |
1700086D15Rik |
T |
C |
11: 65,043,441 (GRCm39) |
|
probably benign |
Het |
A130010J15Rik |
G |
A |
1: 192,856,965 (GRCm39) |
V106I |
probably benign |
Het |
Abca16 |
C |
A |
7: 120,074,702 (GRCm39) |
N580K |
possibly damaging |
Het |
Actrt2 |
A |
T |
4: 154,751,344 (GRCm39) |
F264Y |
probably damaging |
Het |
Adh4 |
G |
A |
3: 138,134,807 (GRCm39) |
S327N |
possibly damaging |
Het |
Alkbh5 |
T |
C |
11: 60,444,697 (GRCm39) |
|
probably null |
Het |
Anapc1 |
T |
A |
2: 128,470,610 (GRCm39) |
T1507S |
possibly damaging |
Het |
Anapc2 |
A |
G |
2: 25,167,764 (GRCm39) |
R444G |
probably damaging |
Het |
Apoh |
G |
T |
11: 108,305,087 (GRCm39) |
W335L |
probably benign |
Het |
B4galt7 |
A |
T |
13: 55,752,162 (GRCm39) |
H71L |
possibly damaging |
Het |
Bicd2 |
A |
G |
13: 49,532,488 (GRCm39) |
E358G |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,134,956 (GRCm39) |
V7D |
possibly damaging |
Het |
Brca2 |
T |
C |
5: 150,463,200 (GRCm39) |
F988S |
probably damaging |
Het |
Brix1 |
A |
G |
15: 10,485,828 (GRCm39) |
V49A |
possibly damaging |
Het |
Brpf3 |
T |
C |
17: 29,025,460 (GRCm39) |
S178P |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,958,448 (GRCm39) |
Y655C |
possibly damaging |
Het |
C1rl |
C |
G |
6: 124,486,040 (GRCm39) |
Y470* |
probably null |
Het |
Cacnb4 |
A |
G |
2: 52,565,822 (GRCm39) |
V21A |
probably benign |
Het |
Caskin1 |
C |
A |
17: 24,720,103 (GRCm39) |
P437T |
probably benign |
Het |
Casz1 |
C |
A |
4: 149,029,028 (GRCm39) |
P1158T |
probably damaging |
Het |
Ccdc141 |
T |
A |
2: 76,954,680 (GRCm39) |
Q189L |
probably damaging |
Het |
Ccr3 |
T |
C |
9: 123,828,809 (GRCm39) |
V48A |
probably damaging |
Het |
Cebpd |
G |
A |
16: 15,705,978 (GRCm39) |
G264S |
probably benign |
Het |
Cert1 |
C |
T |
13: 96,752,995 (GRCm39) |
P350S |
probably benign |
Het |
Cfap20dc |
A |
T |
14: 8,665,997 (GRCm38) |
M1K |
probably null |
Het |
Chd1 |
C |
A |
17: 15,953,386 (GRCm39) |
S440R |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,230,082 (GRCm39) |
R1669G |
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,269,937 (GRCm39) |
F456I |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,957,764 (GRCm39) |
M130K |
probably damaging |
Het |
Elmo2 |
A |
T |
2: 165,133,922 (GRCm39) |
|
probably benign |
Het |
F11 |
T |
C |
8: 45,708,379 (GRCm39) |
D27G |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,266,412 (GRCm39) |
|
probably null |
Het |
Fat1 |
A |
G |
8: 45,442,151 (GRCm39) |
E1151G |
probably damaging |
Het |
Fbll1 |
T |
A |
11: 35,688,652 (GRCm39) |
I204F |
probably damaging |
Het |
Gle1 |
T |
A |
2: 29,830,215 (GRCm39) |
V257D |
possibly damaging |
Het |
Hoxc9 |
T |
A |
15: 102,890,225 (GRCm39) |
C47* |
probably null |
Het |
Hsd17b6 |
A |
G |
10: 127,829,524 (GRCm39) |
V226A |
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,788,764 (GRCm39) |
R151Q |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ido2 |
A |
G |
8: 25,023,875 (GRCm39) |
I321T |
probably benign |
Het |
Irf2bp2 |
T |
C |
8: 127,318,172 (GRCm39) |
T465A |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,412,815 (GRCm39) |
M34T |
probably damaging |
Het |
Klhl6 |
C |
T |
16: 19,775,778 (GRCm39) |
R260H |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,928,196 (GRCm39) |
L1231* |
probably null |
Het |
Lca5l |
A |
C |
16: 95,963,229 (GRCm39) |
Y412* |
probably null |
Het |
Lipt1 |
T |
C |
1: 37,914,513 (GRCm39) |
S190P |
possibly damaging |
Het |
Ly6f |
T |
A |
15: 75,143,569 (GRCm39) |
V92D |
probably damaging |
Het |
Matn4 |
T |
A |
2: 164,235,151 (GRCm39) |
M433L |
probably benign |
Het |
Mbtd1 |
C |
A |
11: 93,816,528 (GRCm39) |
P370T |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,682,703 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
A |
7: 141,417,922 (GRCm39) |
C3623S |
probably damaging |
Het |
Myt1l |
C |
A |
12: 29,899,399 (GRCm39) |
H134N |
probably benign |
Het |
Nav2 |
A |
T |
7: 49,058,749 (GRCm39) |
|
probably benign |
Het |
Ndufaf8 |
T |
C |
11: 119,989,992 (GRCm39) |
C35R |
probably damaging |
Het |
Neb |
G |
A |
2: 52,094,891 (GRCm39) |
T5130I |
possibly damaging |
Het |
Nlrp9c |
T |
C |
7: 26,079,989 (GRCm39) |
N624S |
possibly damaging |
Het |
Nr0b2 |
C |
A |
4: 133,283,334 (GRCm39) |
H190Q |
probably damaging |
Het |
Nrg4 |
A |
G |
9: 55,156,405 (GRCm39) |
|
probably benign |
Het |
Nup88 |
A |
T |
11: 70,852,450 (GRCm39) |
V215E |
probably benign |
Het |
Oas2 |
T |
G |
5: 120,876,411 (GRCm39) |
T511P |
probably benign |
Het |
Or1e25 |
A |
G |
11: 73,493,426 (GRCm39) |
T7A |
possibly damaging |
Het |
Or2t6 |
A |
G |
14: 14,175,885 (GRCm38) |
S66P |
probably damaging |
Het |
Or5d14 |
A |
C |
2: 87,880,432 (GRCm39) |
F179V |
probably damaging |
Het |
Or5w8 |
T |
C |
2: 87,687,621 (GRCm39) |
V34A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,095,501 (GRCm39) |
N9S |
probably benign |
Het |
Or9q1 |
A |
C |
19: 13,805,718 (GRCm39) |
L14R |
probably damaging |
Het |
Pcdhgb2 |
T |
A |
18: 37,823,502 (GRCm39) |
N164K |
probably damaging |
Het |
Pde4d |
C |
G |
13: 109,253,400 (GRCm39) |
P76A |
probably benign |
Het |
Phlda1 |
T |
C |
10: 111,343,516 (GRCm39) |
|
probably benign |
Het |
Plekhh1 |
A |
G |
12: 79,101,577 (GRCm39) |
T216A |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,701,507 (GRCm39) |
E445V |
possibly damaging |
Het |
Prom1 |
A |
G |
5: 44,191,732 (GRCm39) |
V337A |
probably damaging |
Het |
Prr14l |
T |
C |
5: 33,001,743 (GRCm39) |
|
probably benign |
Het |
Psmd1 |
A |
G |
1: 86,064,820 (GRCm39) |
I951V |
probably benign |
Het |
Rab35 |
T |
G |
5: 115,781,454 (GRCm39) |
I85M |
possibly damaging |
Het |
Rad9a |
A |
T |
19: 4,250,536 (GRCm39) |
S93T |
probably benign |
Het |
Ric1 |
G |
A |
19: 29,563,242 (GRCm39) |
C555Y |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ror2 |
T |
A |
13: 53,264,719 (GRCm39) |
Q791L |
probably benign |
Het |
Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
Sdr16c5 |
C |
T |
4: 4,016,216 (GRCm39) |
W70* |
probably null |
Het |
Senp3 |
A |
G |
11: 69,568,821 (GRCm39) |
V408A |
probably benign |
Het |
Sh2d4b |
C |
A |
14: 40,562,301 (GRCm39) |
W288L |
probably benign |
Het |
Slc38a9 |
A |
T |
13: 112,859,832 (GRCm39) |
D422V |
probably damaging |
Het |
Slc4a2 |
T |
C |
5: 24,645,141 (GRCm39) |
F1104L |
probably damaging |
Het |
Slc4a3 |
A |
G |
1: 75,527,267 (GRCm39) |
K113E |
possibly damaging |
Het |
Spata3 |
G |
A |
1: 85,952,048 (GRCm39) |
|
probably null |
Het |
Spata31d1d |
A |
T |
13: 59,877,055 (GRCm39) |
V160E |
possibly damaging |
Het |
Sprr2f |
A |
G |
3: 92,273,203 (GRCm39) |
M1V |
probably null |
Het |
Sptbn1 |
A |
G |
11: 30,068,295 (GRCm39) |
V1733A |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tardbp |
A |
G |
4: 148,702,050 (GRCm39) |
I295T |
probably benign |
Het |
Tmem212 |
A |
G |
3: 27,939,157 (GRCm39) |
S110P |
probably damaging |
Het |
Tnc |
G |
A |
4: 63,935,857 (GRCm39) |
Q360* |
probably null |
Het |
Tnrc6c |
C |
A |
11: 117,613,731 (GRCm39) |
Q630K |
probably damaging |
Het |
Ttc19 |
G |
A |
11: 62,199,922 (GRCm39) |
R235H |
probably benign |
Het |
Ube3b |
T |
A |
5: 114,553,787 (GRCm39) |
|
probably null |
Het |
Vmn2r31 |
C |
T |
7: 7,390,062 (GRCm39) |
|
probably null |
Het |
Vmn2r92 |
T |
A |
17: 18,372,183 (GRCm39) |
|
probably benign |
Het |
Washc5 |
A |
T |
15: 59,205,485 (GRCm39) |
Y685* |
probably null |
Het |
Wdr93 |
T |
A |
7: 79,399,817 (GRCm39) |
Y135* |
probably null |
Het |
Wdr95 |
T |
A |
5: 149,518,797 (GRCm39) |
I546K |
probably damaging |
Het |
Zbtb38 |
T |
A |
9: 96,570,254 (GRCm39) |
T277S |
probably benign |
Het |
Zfp13 |
T |
C |
17: 23,795,797 (GRCm39) |
D258G |
possibly damaging |
Het |
Zfp397 |
T |
A |
18: 24,093,249 (GRCm39) |
S245T |
probably benign |
Het |
Zfp646 |
T |
C |
7: 127,482,907 (GRCm39) |
Y1695H |
probably benign |
Het |
|
Other mutations in Clip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Clip1
|
APN |
5 |
123,741,717 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01067:Clip1
|
APN |
5 |
123,768,867 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01524:Clip1
|
APN |
5 |
123,717,442 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01632:Clip1
|
APN |
5 |
123,755,559 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01798:Clip1
|
APN |
5 |
123,721,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01874:Clip1
|
APN |
5 |
123,741,729 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01908:Clip1
|
APN |
5 |
123,761,270 (GRCm39) |
splice site |
probably benign |
|
IGL02120:Clip1
|
APN |
5 |
123,785,946 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02309:Clip1
|
APN |
5 |
123,755,763 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02555:Clip1
|
APN |
5 |
123,759,857 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03027:Clip1
|
APN |
5 |
123,759,919 (GRCm39) |
missense |
probably benign |
0.43 |
IGL03336:Clip1
|
APN |
5 |
123,791,633 (GRCm39) |
nonsense |
probably null |
|
IGL03365:Clip1
|
APN |
5 |
123,721,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02802:Clip1
|
UTSW |
5 |
123,769,186 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4812001:Clip1
|
UTSW |
5 |
123,768,738 (GRCm39) |
missense |
probably benign |
0.08 |
R0254:Clip1
|
UTSW |
5 |
123,755,395 (GRCm39) |
splice site |
probably benign |
|
R0401:Clip1
|
UTSW |
5 |
123,791,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0530:Clip1
|
UTSW |
5 |
123,778,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Clip1
|
UTSW |
5 |
123,768,784 (GRCm39) |
missense |
probably benign |
0.05 |
R0833:Clip1
|
UTSW |
5 |
123,768,784 (GRCm39) |
missense |
probably benign |
0.05 |
R1116:Clip1
|
UTSW |
5 |
123,717,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R1182:Clip1
|
UTSW |
5 |
123,785,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R1656:Clip1
|
UTSW |
5 |
123,768,466 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1700:Clip1
|
UTSW |
5 |
123,768,433 (GRCm39) |
missense |
probably benign |
|
R1889:Clip1
|
UTSW |
5 |
123,791,559 (GRCm39) |
missense |
probably damaging |
0.99 |
R1975:Clip1
|
UTSW |
5 |
123,761,281 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2406:Clip1
|
UTSW |
5 |
123,741,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R3545:Clip1
|
UTSW |
5 |
123,769,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R3547:Clip1
|
UTSW |
5 |
123,769,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R3548:Clip1
|
UTSW |
5 |
123,769,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R3911:Clip1
|
UTSW |
5 |
123,728,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R3944:Clip1
|
UTSW |
5 |
123,755,892 (GRCm39) |
unclassified |
probably benign |
|
R4660:Clip1
|
UTSW |
5 |
123,717,437 (GRCm39) |
missense |
probably damaging |
0.98 |
R4784:Clip1
|
UTSW |
5 |
123,717,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4785:Clip1
|
UTSW |
5 |
123,717,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Clip1
|
UTSW |
5 |
123,721,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R4951:Clip1
|
UTSW |
5 |
123,768,408 (GRCm39) |
missense |
probably benign |
0.02 |
R4960:Clip1
|
UTSW |
5 |
123,792,066 (GRCm39) |
nonsense |
probably null |
|
R5014:Clip1
|
UTSW |
5 |
123,755,793 (GRCm39) |
missense |
probably damaging |
0.99 |
R5116:Clip1
|
UTSW |
5 |
123,768,770 (GRCm39) |
missense |
probably benign |
0.05 |
R5212:Clip1
|
UTSW |
5 |
123,768,744 (GRCm39) |
missense |
probably benign |
0.09 |
R5238:Clip1
|
UTSW |
5 |
123,785,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R5318:Clip1
|
UTSW |
5 |
123,751,147 (GRCm39) |
unclassified |
probably benign |
|
R5372:Clip1
|
UTSW |
5 |
123,768,303 (GRCm39) |
missense |
probably benign |
0.02 |
R5701:Clip1
|
UTSW |
5 |
123,751,366 (GRCm39) |
unclassified |
probably benign |
|
R5734:Clip1
|
UTSW |
5 |
123,753,217 (GRCm39) |
unclassified |
probably benign |
|
R5757:Clip1
|
UTSW |
5 |
123,765,460 (GRCm39) |
missense |
probably benign |
0.21 |
R6024:Clip1
|
UTSW |
5 |
123,753,152 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6160:Clip1
|
UTSW |
5 |
123,751,604 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6177:Clip1
|
UTSW |
5 |
123,751,897 (GRCm39) |
unclassified |
probably benign |
|
R6183:Clip1
|
UTSW |
5 |
123,780,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R6377:Clip1
|
UTSW |
5 |
123,741,717 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6436:Clip1
|
UTSW |
5 |
123,779,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R6471:Clip1
|
UTSW |
5 |
123,778,612 (GRCm39) |
missense |
probably damaging |
0.99 |
R6766:Clip1
|
UTSW |
5 |
123,752,827 (GRCm39) |
unclassified |
probably benign |
|
R7015:Clip1
|
UTSW |
5 |
123,751,675 (GRCm39) |
unclassified |
probably benign |
|
R7094:Clip1
|
UTSW |
5 |
123,761,333 (GRCm39) |
missense |
probably benign |
0.02 |
R7143:Clip1
|
UTSW |
5 |
123,791,673 (GRCm39) |
missense |
probably benign |
|
R7222:Clip1
|
UTSW |
5 |
123,749,904 (GRCm39) |
missense |
probably damaging |
0.99 |
R7233:Clip1
|
UTSW |
5 |
123,749,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R7238:Clip1
|
UTSW |
5 |
123,751,328 (GRCm39) |
missense |
|
|
R7249:Clip1
|
UTSW |
5 |
123,741,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R7283:Clip1
|
UTSW |
5 |
123,751,857 (GRCm39) |
missense |
|
|
R7295:Clip1
|
UTSW |
5 |
123,765,419 (GRCm39) |
missense |
probably benign |
0.19 |
R7447:Clip1
|
UTSW |
5 |
123,791,696 (GRCm39) |
missense |
probably benign |
0.03 |
R7458:Clip1
|
UTSW |
5 |
123,778,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Clip1
|
UTSW |
5 |
123,755,447 (GRCm39) |
missense |
probably benign |
0.00 |
R7516:Clip1
|
UTSW |
5 |
123,721,448 (GRCm39) |
missense |
probably benign |
0.00 |
R7619:Clip1
|
UTSW |
5 |
123,752,342 (GRCm39) |
missense |
|
|
R7831:Clip1
|
UTSW |
5 |
123,751,342 (GRCm39) |
missense |
|
|
R7897:Clip1
|
UTSW |
5 |
123,760,861 (GRCm39) |
missense |
probably benign |
|
R8155:Clip1
|
UTSW |
5 |
123,751,699 (GRCm39) |
missense |
|
|
R8157:Clip1
|
UTSW |
5 |
123,768,782 (GRCm39) |
missense |
probably benign |
0.17 |
R8232:Clip1
|
UTSW |
5 |
123,785,981 (GRCm39) |
missense |
probably benign |
0.05 |
R8396:Clip1
|
UTSW |
5 |
123,780,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R8446:Clip1
|
UTSW |
5 |
123,794,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Clip1
|
UTSW |
5 |
123,752,770 (GRCm39) |
unclassified |
probably benign |
|
R8511:Clip1
|
UTSW |
5 |
123,791,969 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8731:Clip1
|
UTSW |
5 |
123,752,756 (GRCm39) |
missense |
|
|
R8889:Clip1
|
UTSW |
5 |
123,717,565 (GRCm39) |
missense |
probably benign |
0.00 |
R8892:Clip1
|
UTSW |
5 |
123,717,565 (GRCm39) |
missense |
probably benign |
0.00 |
R9058:Clip1
|
UTSW |
5 |
123,752,645 (GRCm39) |
missense |
|
|
R9106:Clip1
|
UTSW |
5 |
123,753,223 (GRCm39) |
missense |
probably damaging |
0.97 |
R9212:Clip1
|
UTSW |
5 |
123,721,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R9217:Clip1
|
UTSW |
5 |
123,717,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R9223:Clip1
|
UTSW |
5 |
123,784,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R9325:Clip1
|
UTSW |
5 |
123,751,186 (GRCm39) |
missense |
|
|
R9752:Clip1
|
UTSW |
5 |
123,760,009 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Clip1
|
UTSW |
5 |
123,755,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTGCTTCTCAGGGACTC -3'
(R):5'- CTTACATGTGATAGGCGGGC -3'
Sequencing Primer
(F):5'- GACTCGTTCTCTTTGGAAAGC -3'
(R):5'- GGAAAATCATCAGTGCTCTCTGTC -3'
|
Posted On |
2016-03-01 |