Incidental Mutation 'R6273:Cracd'
| ID |
507451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cracd
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
capping protein inhibiting regulator of actin |
| Synonyms |
C530008M17Rik |
| MMRRC Submission |
044443-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76804359-77021401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77005568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 643
(D643V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120639]
[ENSMUST00000121160]
[ENSMUST00000163347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000120639
AA Change: D643V
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: D643V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121160
AA Change: D643V
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: D643V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
45 |
172 |
1.8e-41 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152373
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163347
AA Change: D643V
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: D643V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0884 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (78/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,561 (GRCm39) |
I99N |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,988,181 (GRCm39) |
I1065V |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,378,831 (GRCm39) |
T1027A |
probably benign |
Het |
| Atm |
G |
A |
9: 53,399,222 (GRCm39) |
P1593L |
probably benign |
Het |
| Atp13a5 |
T |
G |
16: 29,167,555 (GRCm39) |
I132L |
probably benign |
Het |
| BC035044 |
A |
G |
6: 128,867,852 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
CT |
C |
1: 173,176,691 (GRCm39) |
|
probably benign |
Homo |
| Car3 |
C |
T |
3: 14,936,677 (GRCm39) |
P247S |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,513,819 (GRCm39) |
Y160C |
probably damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,564 (GRCm39) |
V143A |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,779,369 (GRCm39) |
V393E |
probably damaging |
Het |
| Cog6 |
A |
T |
3: 52,903,473 (GRCm39) |
F142I |
probably damaging |
Het |
| Crhr1 |
T |
G |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Csf1 |
A |
G |
3: 107,656,479 (GRCm39) |
V72A |
probably damaging |
Het |
| Cwc15 |
T |
A |
9: 14,421,537 (GRCm39) |
I201K |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,559,515 (GRCm39) |
K482R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,281,476 (GRCm39) |
S2846P |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,314,347 (GRCm39) |
I4199N |
probably damaging |
Het |
| Dusp7 |
A |
G |
9: 106,251,095 (GRCm39) |
T407A |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fem1a |
T |
C |
17: 56,564,083 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,723,168 (GRCm39) |
D1150E |
probably benign |
Het |
| Gabra1 |
A |
G |
11: 42,031,138 (GRCm39) |
V264A |
probably damaging |
Het |
| Gm4131 |
T |
C |
14: 62,702,299 (GRCm39) |
E223G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,763,156 (GRCm39) |
V333A |
probably damaging |
Het |
| Gsk3b |
A |
G |
16: 38,028,408 (GRCm39) |
T289A |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,301,846 (GRCm39) |
S2912P |
probably damaging |
Het |
| Htr7 |
A |
T |
19: 36,018,969 (GRCm39) |
|
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,458,167 (GRCm39) |
T235A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,179 (GRCm39) |
D116E |
probably damaging |
Het |
| Irag1 |
G |
T |
7: 110,470,790 (GRCm39) |
H848N |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,112,117 (GRCm39) |
N753S |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,715,979 (GRCm39) |
N2054D |
probably benign |
Het |
| Mink1 |
A |
T |
11: 70,502,261 (GRCm39) |
K880* |
probably null |
Het |
| Myo15b |
T |
A |
11: 115,753,625 (GRCm39) |
L824Q |
possibly damaging |
Het |
| Napepld |
T |
C |
5: 21,870,320 (GRCm39) |
E366G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,967,819 (GRCm39) |
T2662S |
possibly damaging |
Het |
| Or2g7 |
T |
G |
17: 38,378,686 (GRCm39) |
L208R |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,459,833 (GRCm39) |
M118K |
possibly damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,567 (GRCm39) |
F301L |
probably benign |
Het |
| Or52p1 |
A |
G |
7: 104,267,102 (GRCm39) |
D72G |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,896,764 (GRCm39) |
V303A |
probably benign |
Het |
| Or6d13 |
A |
G |
6: 116,518,277 (GRCm39) |
T288A |
possibly damaging |
Het |
| Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
| Panx3 |
T |
G |
9: 37,578,725 (GRCm39) |
I85L |
probably benign |
Het |
| Pate4 |
T |
C |
9: 35,519,086 (GRCm39) |
N94D |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,086,755 (GRCm39) |
M610V |
possibly damaging |
Het |
| Pik3c2b |
T |
C |
1: 132,994,449 (GRCm39) |
S138P |
probably benign |
Het |
| Pkn1 |
T |
C |
8: 84,398,899 (GRCm39) |
N696S |
probably damaging |
Het |
| Plppr2 |
A |
G |
9: 21,855,801 (GRCm39) |
E258G |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,955,453 (GRCm39) |
M538K |
probably damaging |
Het |
| Prepl |
G |
T |
17: 85,390,696 (GRCm39) |
N87K |
probably benign |
Het |
| Prkag2 |
C |
A |
5: 25,152,534 (GRCm39) |
R190L |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,861,048 (GRCm39) |
T179A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,524,279 (GRCm39) |
K490E |
possibly damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,703,211 (GRCm39) |
V147M |
possibly damaging |
Het |
| Rph3a |
A |
G |
5: 121,083,485 (GRCm39) |
I595T |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,879,259 (GRCm39) |
F582L |
possibly damaging |
Het |
| Sprr2e |
A |
G |
3: 92,260,171 (GRCm39) |
M1V |
probably null |
Het |
| Steap1 |
T |
A |
5: 5,790,827 (GRCm39) |
R40S |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,408,835 (GRCm39) |
V729E |
probably damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,256,630 (GRCm39) |
Y525C |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,631,649 (GRCm39) |
H383L |
possibly damaging |
Het |
| Vars1 |
T |
C |
17: 35,232,719 (GRCm39) |
L881S |
probably damaging |
Het |
| Vmn1r201 |
A |
C |
13: 22,659,385 (GRCm39) |
S200R |
probably damaging |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,759 (GRCm39) |
H643L |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,133 (GRCm39) |
W147R |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,992,844 (GRCm39) |
E367G |
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,661,822 (GRCm39) |
G544S |
probably damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,259,020 (GRCm39) |
V400E |
possibly damaging |
Het |
| Zfand5 |
C |
T |
19: 21,257,060 (GRCm39) |
P147S |
probably benign |
Het |
| Zfp768 |
A |
T |
7: 126,944,319 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,763,521 (GRCm39) |
M423V |
probably benign |
Het |
|
| Other mutations in Cracd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Cracd
|
APN |
5 |
77,013,903 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00660:Cracd
|
APN |
5 |
77,002,780 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00924:Cracd
|
APN |
5 |
77,006,833 (GRCm39) |
missense |
unknown |
|
|
IGL01025:Cracd
|
APN |
5 |
76,805,921 (GRCm39) |
intron |
probably benign |
|
|
IGL01122:Cracd
|
APN |
5 |
77,018,522 (GRCm39) |
makesense |
probably null |
|
|
IGL01393:Cracd
|
APN |
5 |
77,006,818 (GRCm39) |
missense |
unknown |
|
|
IGL01526:Cracd
|
APN |
5 |
77,005,478 (GRCm39) |
missense |
unknown |
|
|
IGL01986:Cracd
|
APN |
5 |
77,006,457 (GRCm39) |
missense |
unknown |
|
|
IGL02009:Cracd
|
APN |
5 |
76,996,817 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02724:Cracd
|
APN |
5 |
77,006,306 (GRCm39) |
missense |
unknown |
|
|
IGL02869:Cracd
|
APN |
5 |
77,006,890 (GRCm39) |
missense |
unknown |
|
|
IGL03030:Cracd
|
APN |
5 |
77,005,463 (GRCm39) |
missense |
unknown |
|
|
IGL03150:Cracd
|
APN |
5 |
77,015,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
LCD18:Cracd
|
UTSW |
5 |
76,806,589 (GRCm39) |
intron |
probably benign |
|
|
R0975:Cracd
|
UTSW |
5 |
77,004,165 (GRCm39) |
splice site |
probably benign |
|
|
R1329:Cracd
|
UTSW |
5 |
76,805,779 (GRCm39) |
intron |
probably benign |
|
|
R1439:Cracd
|
UTSW |
5 |
76,988,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1750:Cracd
|
UTSW |
5 |
77,005,522 (GRCm39) |
missense |
unknown |
|
|
R1773:Cracd
|
UTSW |
5 |
77,015,052 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1885:Cracd
|
UTSW |
5 |
77,004,589 (GRCm39) |
missense |
unknown |
|
|
R1924:Cracd
|
UTSW |
5 |
77,006,470 (GRCm39) |
missense |
unknown |
|
|
R2483:Cracd
|
UTSW |
5 |
77,004,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3840:Cracd
|
UTSW |
5 |
77,006,858 (GRCm39) |
missense |
unknown |
|
|
R3841:Cracd
|
UTSW |
5 |
77,006,858 (GRCm39) |
missense |
unknown |
|
|
R3874:Cracd
|
UTSW |
5 |
76,988,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Cracd
|
UTSW |
5 |
77,004,421 (GRCm39) |
missense |
unknown |
|
|
R4033:Cracd
|
UTSW |
5 |
77,006,312 (GRCm39) |
missense |
unknown |
|
|
R4401:Cracd
|
UTSW |
5 |
76,996,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4749:Cracd
|
UTSW |
5 |
77,006,681 (GRCm39) |
missense |
unknown |
|
|
R4884:Cracd
|
UTSW |
5 |
76,996,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Cracd
|
UTSW |
5 |
77,005,421 (GRCm39) |
missense |
unknown |
|
|
R5010:Cracd
|
UTSW |
5 |
76,805,681 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5086:Cracd
|
UTSW |
5 |
77,004,971 (GRCm39) |
missense |
unknown |
|
|
R5468:Cracd
|
UTSW |
5 |
76,988,610 (GRCm39) |
intron |
probably benign |
|
|
R5786:Cracd
|
UTSW |
5 |
77,014,043 (GRCm39) |
splice site |
probably null |
|
|
R5813:Cracd
|
UTSW |
5 |
77,006,275 (GRCm39) |
missense |
unknown |
|
|
R5866:Cracd
|
UTSW |
5 |
77,005,384 (GRCm39) |
missense |
unknown |
|
|
R5928:Cracd
|
UTSW |
5 |
76,989,581 (GRCm39) |
intron |
probably benign |
|
|
R6577:Cracd
|
UTSW |
5 |
77,013,947 (GRCm39) |
unclassified |
probably benign |
|
|
R6838:Cracd
|
UTSW |
5 |
77,006,056 (GRCm39) |
missense |
unknown |
|
|
R6849:Cracd
|
UTSW |
5 |
77,005,004 (GRCm39) |
missense |
unknown |
|
|
R6849:Cracd
|
UTSW |
5 |
77,004,857 (GRCm39) |
missense |
unknown |
|
|
R6914:Cracd
|
UTSW |
5 |
77,004,854 (GRCm39) |
missense |
unknown |
|
|
R7017:Cracd
|
UTSW |
5 |
77,004,795 (GRCm39) |
small deletion |
probably benign |
|
|
R7094:Cracd
|
UTSW |
5 |
77,006,879 (GRCm39) |
missense |
unknown |
|
|
R7367:Cracd
|
UTSW |
5 |
77,004,449 (GRCm39) |
missense |
unknown |
|
|
R7394:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7436:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7443:Cracd
|
UTSW |
5 |
77,004,485 (GRCm39) |
missense |
unknown |
|
|
R7500:Cracd
|
UTSW |
5 |
76,805,905 (GRCm39) |
missense |
unknown |
|
|
R7566:Cracd
|
UTSW |
5 |
77,014,122 (GRCm39) |
splice site |
probably null |
|
|
R7633:Cracd
|
UTSW |
5 |
77,005,367 (GRCm39) |
missense |
unknown |
|
|
R7728:Cracd
|
UTSW |
5 |
77,005,316 (GRCm39) |
missense |
unknown |
|
|
R7930:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R7985:Cracd
|
UTSW |
5 |
76,805,897 (GRCm39) |
missense |
unknown |
|
|
R8154:Cracd
|
UTSW |
5 |
76,989,644 (GRCm39) |
missense |
unknown |
|
|
R8463:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8547:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8805:Cracd
|
UTSW |
5 |
77,006,489 (GRCm39) |
missense |
unknown |
|
|
R8819:Cracd
|
UTSW |
5 |
77,004,793 (GRCm39) |
small deletion |
probably benign |
|
|
R8888:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R9256:Cracd
|
UTSW |
5 |
76,988,757 (GRCm39) |
missense |
unknown |
|
|
R9358:Cracd
|
UTSW |
5 |
77,002,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Cracd
|
UTSW |
5 |
77,004,801 (GRCm39) |
small deletion |
probably benign |
|
|
R9618:Cracd
|
UTSW |
5 |
77,004,617 (GRCm39) |
missense |
unknown |
|
|
R9628:Cracd
|
UTSW |
5 |
77,004,923 (GRCm39) |
missense |
unknown |
|
|
R9639:Cracd
|
UTSW |
5 |
77,005,997 (GRCm39) |
missense |
unknown |
|
|
R9762:Cracd
|
UTSW |
5 |
77,006,555 (GRCm39) |
missense |
unknown |
|
|
R9785:Cracd
|
UTSW |
5 |
77,015,028 (GRCm39) |
missense |
unknown |
|
|
Z1176:Cracd
|
UTSW |
5 |
77,005,093 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGAAGCTACTGCGGCAG -3'
(R):5'- CGCATTGCTTGGTGACTCTG -3'
Sequencing Primer
(F):5'- GCTACTGCGGCAGACATAGAC -3'
(R):5'- TTCTTCTGACAGCCCCAGGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation