Incidental Mutation 'R0511:Spef2'
ID |
46961 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spef2
|
Ensembl Gene |
ENSMUSG00000072663 |
Gene Name |
sperm flagellar 2 |
Synonyms |
C230086A09Rik |
MMRRC Submission |
038705-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R0511 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
9578279-9748954 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 9584070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160236]
|
AlphaFold |
Q8C9J3 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000125336 Gene: ENSMUSG00000072663
Domain | Start | End | E-Value | Type |
Pfam:CH_2
|
5 |
102 |
3.1e-25 |
PFAM |
low complexity region
|
106 |
115 |
N/A |
INTRINSIC |
low complexity region
|
137 |
148 |
N/A |
INTRINSIC |
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
coiled coil region
|
171 |
203 |
N/A |
INTRINSIC |
low complexity region
|
247 |
256 |
N/A |
INTRINSIC |
coiled coil region
|
312 |
345 |
N/A |
INTRINSIC |
Pfam:ADK
|
602 |
789 |
8.8e-11 |
PFAM |
low complexity region
|
819 |
855 |
N/A |
INTRINSIC |
low complexity region
|
899 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1201 |
1221 |
N/A |
INTRINSIC |
low complexity region
|
1264 |
1278 |
N/A |
INTRINSIC |
low complexity region
|
1359 |
1369 |
N/A |
INTRINSIC |
SCOP:d1rec__
|
1378 |
1530 |
3e-3 |
SMART |
low complexity region
|
1605 |
1624 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160236
|
SMART Domains |
Protein: ENSMUSP00000124222 Gene: ENSMUSG00000072663
Domain | Start | End | E-Value | Type |
Pfam:DUF1042
|
5 |
160 |
4.6e-59 |
PFAM |
coiled coil region
|
171 |
203 |
N/A |
INTRINSIC |
low complexity region
|
247 |
256 |
N/A |
INTRINSIC |
coiled coil region
|
312 |
345 |
N/A |
INTRINSIC |
Pfam:ADK
|
600 |
787 |
3.7e-10 |
PFAM |
low complexity region
|
819 |
855 |
N/A |
INTRINSIC |
low complexity region
|
899 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1201 |
1225 |
N/A |
INTRINSIC |
low complexity region
|
1254 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1349 |
1359 |
N/A |
INTRINSIC |
SCOP:d1rec__
|
1368 |
1520 |
3e-3 |
SMART |
low complexity region
|
1595 |
1614 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9486 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
100% (116/116) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility due to oligospermia and abnormal spermatogenesis, hydroencephaly, sinusitis, and background-dependent lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 118 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
G |
3: 59,843,771 (GRCm39) |
H155R |
possibly damaging |
Het |
Abca13 |
G |
T |
11: 9,244,559 (GRCm39) |
V2141L |
probably benign |
Het |
Adam17 |
T |
C |
12: 21,390,459 (GRCm39) |
|
probably benign |
Het |
Adam3 |
A |
T |
8: 25,185,331 (GRCm39) |
C456S |
probably damaging |
Het |
Aldh4a1 |
G |
T |
4: 139,369,882 (GRCm39) |
|
probably benign |
Het |
Anapc4 |
A |
G |
5: 52,999,359 (GRCm39) |
|
probably benign |
Het |
Ank3 |
A |
T |
10: 69,718,198 (GRCm39) |
Q483L |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,389,925 (GRCm39) |
|
probably benign |
Het |
Ankrd13b |
T |
A |
11: 77,364,114 (GRCm39) |
T150S |
possibly damaging |
Het |
Apeh |
A |
G |
9: 107,964,254 (GRCm39) |
M524T |
probably benign |
Het |
Arl14epl |
T |
A |
18: 47,059,484 (GRCm39) |
|
probably null |
Het |
Atg2a |
T |
C |
19: 6,302,569 (GRCm39) |
F964S |
possibly damaging |
Het |
Atg2b |
C |
T |
12: 105,583,412 (GRCm39) |
V2050M |
probably damaging |
Het |
Atp2b4 |
A |
T |
1: 133,659,956 (GRCm39) |
|
probably benign |
Het |
Bbof1 |
T |
A |
12: 84,477,045 (GRCm39) |
S512T |
probably benign |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Car10 |
T |
C |
11: 93,381,408 (GRCm39) |
Y100H |
probably damaging |
Het |
Ccdc81 |
T |
A |
7: 89,542,504 (GRCm39) |
E124V |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,700,494 (GRCm39) |
T204A |
probably benign |
Het |
Celf2 |
A |
G |
2: 6,608,987 (GRCm39) |
S178P |
probably damaging |
Het |
Chat |
G |
A |
14: 32,130,976 (GRCm39) |
T555M |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,834,111 (GRCm39) |
F917S |
probably damaging |
Het |
Chrna2 |
C |
A |
14: 66,386,553 (GRCm39) |
T233N |
probably damaging |
Het |
Cnpy2 |
T |
C |
10: 128,162,054 (GRCm39) |
V109A |
probably benign |
Het |
Col4a1 |
T |
C |
8: 11,258,333 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 15,982,529 (GRCm39) |
V2713M |
possibly damaging |
Het |
Cuedc1 |
G |
A |
11: 88,074,231 (GRCm39) |
R255Q |
probably damaging |
Het |
Cxcl15 |
A |
T |
5: 90,945,897 (GRCm39) |
|
probably benign |
Het |
Dach1 |
A |
T |
14: 98,138,765 (GRCm39) |
H559Q |
possibly damaging |
Het |
Dele1 |
T |
C |
18: 38,387,124 (GRCm39) |
|
probably null |
Het |
Dennd4c |
C |
T |
4: 86,744,259 (GRCm39) |
T1367M |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,102,372 (GRCm39) |
Y365* |
probably null |
Het |
Dicer1 |
T |
C |
12: 104,669,100 (GRCm39) |
Y1194C |
possibly damaging |
Het |
Dmxl1 |
C |
G |
18: 50,024,534 (GRCm39) |
S1736* |
probably null |
Het |
Dnah7a |
C |
T |
1: 53,536,285 (GRCm39) |
R2586K |
probably benign |
Het |
Dnajb8 |
T |
C |
6: 88,199,467 (GRCm39) |
M1T |
probably null |
Het |
Dync2h1 |
G |
A |
9: 7,122,692 (GRCm39) |
P2088L |
probably benign |
Het |
Eftud2 |
T |
G |
11: 102,735,048 (GRCm39) |
H617P |
probably damaging |
Het |
Ephb1 |
A |
G |
9: 101,873,179 (GRCm39) |
|
probably benign |
Het |
Fam184a |
G |
T |
10: 53,574,975 (GRCm39) |
H155Q |
probably benign |
Het |
Firrm |
T |
C |
1: 163,799,412 (GRCm39) |
|
probably null |
Het |
Ganc |
G |
T |
2: 120,278,882 (GRCm39) |
E700* |
probably null |
Het |
Gm10912 |
A |
G |
2: 103,897,290 (GRCm39) |
|
probably benign |
Het |
Haus5 |
A |
T |
7: 30,358,492 (GRCm39) |
I294N |
probably damaging |
Het |
Hmgcr |
G |
T |
13: 96,796,651 (GRCm39) |
|
probably null |
Het |
Hr |
T |
A |
14: 70,799,352 (GRCm39) |
C641* |
probably null |
Het |
Itga10 |
A |
G |
3: 96,565,490 (GRCm39) |
N1038S |
probably damaging |
Het |
Itgb1bp1 |
T |
G |
12: 21,321,436 (GRCm39) |
Y172S |
probably damaging |
Het |
Kprp |
T |
C |
3: 92,732,030 (GRCm39) |
N340S |
probably damaging |
Het |
Kremen1 |
A |
G |
11: 5,165,447 (GRCm39) |
I41T |
probably damaging |
Het |
Krt6b |
A |
G |
15: 101,586,042 (GRCm39) |
|
probably benign |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Ldhd |
A |
G |
8: 112,356,309 (GRCm39) |
Y86H |
probably benign |
Het |
Lilra6 |
A |
T |
7: 3,915,784 (GRCm39) |
I76N |
possibly damaging |
Het |
Mak |
T |
C |
13: 41,199,743 (GRCm39) |
T299A |
probably benign |
Het |
Med25 |
A |
G |
7: 44,534,502 (GRCm39) |
|
probably null |
Het |
Mpg |
A |
T |
11: 32,180,039 (GRCm39) |
N189I |
probably damaging |
Het |
Mroh8 |
A |
G |
2: 157,071,838 (GRCm39) |
Y556H |
probably damaging |
Het |
Myh8 |
T |
A |
11: 67,175,333 (GRCm39) |
S294T |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,391,312 (GRCm39) |
D842E |
probably benign |
Het |
Myorg |
A |
G |
4: 41,498,538 (GRCm39) |
F364S |
probably damaging |
Het |
Nat2 |
C |
T |
8: 67,953,982 (GRCm39) |
Q31* |
probably null |
Het |
Nf1 |
T |
A |
11: 79,329,595 (GRCm39) |
M653K |
probably benign |
Het |
Nhs |
C |
A |
X: 160,620,355 (GRCm39) |
R1467I |
probably damaging |
Het |
Npr2 |
A |
G |
4: 43,632,801 (GRCm39) |
E206G |
probably benign |
Het |
Nsd3 |
G |
A |
8: 26,168,732 (GRCm39) |
G629D |
possibly damaging |
Het |
Nwd1 |
G |
A |
8: 73,408,633 (GRCm39) |
C831Y |
probably damaging |
Het |
Or52r1c |
T |
C |
7: 102,735,058 (GRCm39) |
I111T |
probably damaging |
Het |
Or5t9 |
A |
G |
2: 86,659,950 (GRCm39) |
I285V |
probably benign |
Het |
P2ry14 |
A |
G |
3: 59,023,449 (GRCm39) |
S4P |
possibly damaging |
Het |
Parp4 |
A |
G |
14: 56,873,172 (GRCm39) |
|
probably benign |
Het |
Pate14 |
A |
T |
9: 36,549,873 (GRCm39) |
|
probably null |
Het |
Pclo |
A |
G |
5: 14,728,299 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
C |
5: 14,729,412 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
T |
10: 76,240,429 (GRCm39) |
S1202T |
possibly damaging |
Het |
Pfkfb4 |
A |
G |
9: 108,856,825 (GRCm39) |
Y412C |
probably damaging |
Het |
Pgm2 |
T |
A |
5: 64,267,898 (GRCm39) |
V449D |
probably damaging |
Het |
Poldip3 |
T |
A |
15: 83,022,436 (GRCm39) |
D116V |
probably damaging |
Het |
Pom121 |
G |
T |
5: 135,410,686 (GRCm39) |
Q824K |
unknown |
Het |
Prkdc |
G |
T |
16: 15,649,146 (GRCm39) |
G3707* |
probably null |
Het |
Prr14l |
T |
C |
5: 33,001,560 (GRCm39) |
|
probably benign |
Het |
Ptbp2 |
T |
G |
3: 119,514,613 (GRCm39) |
I405L |
probably benign |
Het |
Rad21l |
A |
T |
2: 151,490,989 (GRCm39) |
|
probably benign |
Het |
Rbm6 |
G |
A |
9: 107,724,488 (GRCm39) |
Q488* |
probably null |
Het |
Rdh1 |
T |
A |
10: 127,600,652 (GRCm39) |
M225K |
probably benign |
Het |
Recql5 |
T |
C |
11: 115,819,209 (GRCm39) |
D119G |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Robo1 |
T |
C |
16: 72,810,013 (GRCm39) |
|
probably null |
Het |
Samd12 |
G |
A |
15: 53,723,567 (GRCm39) |
T42I |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,442,766 (GRCm39) |
M1494K |
probably damaging |
Het |
Sec31a |
G |
A |
5: 100,523,099 (GRCm39) |
P864L |
probably benign |
Het |
Senp2 |
T |
C |
16: 21,855,320 (GRCm39) |
V344A |
probably benign |
Het |
Serpina5 |
G |
A |
12: 104,069,621 (GRCm39) |
D278N |
probably benign |
Het |
Sh3tc1 |
A |
T |
5: 35,860,806 (GRCm39) |
V1017D |
probably damaging |
Het |
Sin3a |
T |
A |
9: 57,004,179 (GRCm39) |
Y310* |
probably null |
Het |
Slc25a32 |
T |
C |
15: 38,960,940 (GRCm39) |
T248A |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Slc4a10 |
G |
A |
2: 62,117,206 (GRCm39) |
V722M |
probably damaging |
Het |
Slco1a4 |
A |
G |
6: 141,776,586 (GRCm39) |
|
probably benign |
Het |
Smg6 |
T |
A |
11: 74,819,884 (GRCm39) |
Y52N |
probably damaging |
Het |
Sncb |
T |
G |
13: 54,913,400 (GRCm39) |
T33P |
probably damaging |
Het |
Spmip1 |
G |
T |
6: 29,478,169 (GRCm39) |
|
probably benign |
Het |
Sugp1 |
A |
G |
8: 70,512,013 (GRCm39) |
E203G |
probably damaging |
Het |
Suv39h2 |
A |
T |
2: 3,473,616 (GRCm39) |
C105S |
probably damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,963 (GRCm39) |
F205I |
probably damaging |
Het |
Tnip1 |
A |
T |
11: 54,808,699 (GRCm39) |
M496K |
probably damaging |
Het |
Tnxb |
G |
A |
17: 34,937,219 (GRCm39) |
E2889K |
probably damaging |
Het |
Trim30b |
T |
A |
7: 104,015,010 (GRCm39) |
H126L |
possibly damaging |
Het |
Trpm7 |
A |
T |
2: 126,668,638 (GRCm39) |
Y759* |
probably null |
Het |
Ttc17 |
A |
G |
2: 94,153,465 (GRCm39) |
I1000T |
possibly damaging |
Het |
Ttc27 |
A |
T |
17: 75,025,710 (GRCm39) |
N61I |
probably benign |
Het |
Uba6 |
T |
C |
5: 86,260,609 (GRCm39) |
Y990C |
probably damaging |
Het |
Vav3 |
A |
G |
3: 109,571,756 (GRCm39) |
|
probably benign |
Het |
Vmn2r55 |
C |
T |
7: 12,404,945 (GRCm39) |
A153T |
possibly damaging |
Het |
Wars2 |
A |
G |
3: 99,123,865 (GRCm39) |
D242G |
probably damaging |
Het |
Xylt2 |
G |
A |
11: 94,560,762 (GRCm39) |
Q259* |
probably null |
Het |
Zfp27 |
G |
A |
7: 29,593,947 (GRCm39) |
P673S |
probably damaging |
Het |
Zgrf1 |
T |
C |
3: 127,378,309 (GRCm39) |
I1023T |
possibly damaging |
Het |
|
Other mutations in Spef2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Spef2
|
APN |
15 |
9,740,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00886:Spef2
|
APN |
15 |
9,663,181 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01409:Spef2
|
APN |
15 |
9,716,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01413:Spef2
|
APN |
15 |
9,676,376 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01474:Spef2
|
APN |
15 |
9,663,244 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01603:Spef2
|
APN |
15 |
9,704,466 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02320:Spef2
|
APN |
15 |
9,717,662 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02570:Spef2
|
APN |
15 |
9,717,584 (GRCm39) |
nonsense |
probably null |
|
IGL02605:Spef2
|
APN |
15 |
9,725,238 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02890:Spef2
|
APN |
15 |
9,748,853 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL02904:Spef2
|
APN |
15 |
9,679,432 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02942:Spef2
|
APN |
15 |
9,668,960 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02953:Spef2
|
APN |
15 |
9,713,329 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02965:Spef2
|
APN |
15 |
9,725,192 (GRCm39) |
splice site |
probably benign |
|
IGL03263:Spef2
|
APN |
15 |
9,667,305 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03302:Spef2
|
APN |
15 |
9,676,466 (GRCm39) |
missense |
probably benign |
0.01 |
R0101:Spef2
|
UTSW |
15 |
9,713,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0101:Spef2
|
UTSW |
15 |
9,713,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0183:Spef2
|
UTSW |
15 |
9,716,445 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0386:Spef2
|
UTSW |
15 |
9,584,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Spef2
|
UTSW |
15 |
9,592,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R0655:Spef2
|
UTSW |
15 |
9,626,217 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0829:Spef2
|
UTSW |
15 |
9,687,899 (GRCm39) |
missense |
probably benign |
0.10 |
R0908:Spef2
|
UTSW |
15 |
9,614,281 (GRCm39) |
splice site |
probably null |
|
R0939:Spef2
|
UTSW |
15 |
9,704,636 (GRCm39) |
splice site |
probably null |
|
R0973:Spef2
|
UTSW |
15 |
9,716,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R1371:Spef2
|
UTSW |
15 |
9,725,194 (GRCm39) |
splice site |
probably benign |
|
R1392:Spef2
|
UTSW |
15 |
9,647,349 (GRCm39) |
missense |
probably benign |
0.15 |
R1392:Spef2
|
UTSW |
15 |
9,647,349 (GRCm39) |
missense |
probably benign |
0.15 |
R1428:Spef2
|
UTSW |
15 |
9,596,793 (GRCm39) |
unclassified |
probably benign |
|
R1518:Spef2
|
UTSW |
15 |
9,667,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R1585:Spef2
|
UTSW |
15 |
9,596,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R1654:Spef2
|
UTSW |
15 |
9,634,738 (GRCm39) |
missense |
probably damaging |
0.99 |
R1723:Spef2
|
UTSW |
15 |
9,614,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Spef2
|
UTSW |
15 |
9,717,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R1812:Spef2
|
UTSW |
15 |
9,679,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
R1818:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
R1873:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
R1875:Spef2
|
UTSW |
15 |
9,597,487 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1875:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
R1897:Spef2
|
UTSW |
15 |
9,729,740 (GRCm39) |
nonsense |
probably null |
|
R1901:Spef2
|
UTSW |
15 |
9,607,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Spef2
|
UTSW |
15 |
9,607,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Spef2
|
UTSW |
15 |
9,663,280 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1968:Spef2
|
UTSW |
15 |
9,609,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R1973:Spef2
|
UTSW |
15 |
9,663,152 (GRCm39) |
makesense |
probably null |
|
R1998:Spef2
|
UTSW |
15 |
9,668,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1999:Spef2
|
UTSW |
15 |
9,668,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2008:Spef2
|
UTSW |
15 |
9,713,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2111:Spef2
|
UTSW |
15 |
9,589,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R2127:Spef2
|
UTSW |
15 |
9,729,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2405:Spef2
|
UTSW |
15 |
9,626,120 (GRCm39) |
nonsense |
probably null |
|
R2517:Spef2
|
UTSW |
15 |
9,725,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2889:Spef2
|
UTSW |
15 |
9,630,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R2988:Spef2
|
UTSW |
15 |
9,682,709 (GRCm39) |
missense |
probably benign |
0.43 |
R3792:Spef2
|
UTSW |
15 |
9,704,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R4154:Spef2
|
UTSW |
15 |
9,626,107 (GRCm39) |
missense |
probably benign |
0.13 |
R4159:Spef2
|
UTSW |
15 |
9,676,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R4199:Spef2
|
UTSW |
15 |
9,667,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R4320:Spef2
|
UTSW |
15 |
9,679,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4321:Spef2
|
UTSW |
15 |
9,679,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4568:Spef2
|
UTSW |
15 |
9,647,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4625:Spef2
|
UTSW |
15 |
9,647,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Spef2
|
UTSW |
15 |
9,676,459 (GRCm39) |
missense |
probably benign |
0.42 |
R4684:Spef2
|
UTSW |
15 |
9,647,576 (GRCm39) |
missense |
probably benign |
0.44 |
R4761:Spef2
|
UTSW |
15 |
9,653,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Spef2
|
UTSW |
15 |
9,713,264 (GRCm39) |
nonsense |
probably null |
|
R5004:Spef2
|
UTSW |
15 |
9,578,413 (GRCm39) |
missense |
probably benign |
0.02 |
R5157:Spef2
|
UTSW |
15 |
9,668,877 (GRCm39) |
nonsense |
probably null |
|
R5230:Spef2
|
UTSW |
15 |
9,667,316 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5315:Spef2
|
UTSW |
15 |
9,596,777 (GRCm39) |
missense |
probably damaging |
0.98 |
R5400:Spef2
|
UTSW |
15 |
9,614,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5591:Spef2
|
UTSW |
15 |
9,583,922 (GRCm39) |
missense |
probably benign |
0.02 |
R5599:Spef2
|
UTSW |
15 |
9,729,789 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5605:Spef2
|
UTSW |
15 |
9,609,606 (GRCm39) |
missense |
probably damaging |
0.96 |
R5787:Spef2
|
UTSW |
15 |
9,748,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5939:Spef2
|
UTSW |
15 |
9,614,301 (GRCm39) |
missense |
probably benign |
0.16 |
R6177:Spef2
|
UTSW |
15 |
9,727,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6641:Spef2
|
UTSW |
15 |
9,626,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R6665:Spef2
|
UTSW |
15 |
9,600,604 (GRCm39) |
critical splice donor site |
probably null |
|
R6944:Spef2
|
UTSW |
15 |
9,592,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R6956:Spef2
|
UTSW |
15 |
9,685,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R6968:Spef2
|
UTSW |
15 |
9,597,426 (GRCm39) |
missense |
probably benign |
0.02 |
R7089:Spef2
|
UTSW |
15 |
9,725,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Spef2
|
UTSW |
15 |
9,729,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Spef2
|
UTSW |
15 |
9,717,689 (GRCm39) |
missense |
probably benign |
0.29 |
R7223:Spef2
|
UTSW |
15 |
9,601,726 (GRCm39) |
missense |
unknown |
|
R7263:Spef2
|
UTSW |
15 |
9,653,098 (GRCm39) |
splice site |
probably null |
|
R7270:Spef2
|
UTSW |
15 |
9,600,066 (GRCm39) |
critical splice donor site |
probably null |
|
R7303:Spef2
|
UTSW |
15 |
9,647,576 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7369:Spef2
|
UTSW |
15 |
9,584,293 (GRCm39) |
missense |
probably benign |
0.02 |
R7464:Spef2
|
UTSW |
15 |
9,740,671 (GRCm39) |
missense |
probably benign |
0.23 |
R7498:Spef2
|
UTSW |
15 |
9,727,625 (GRCm39) |
missense |
probably benign |
|
R7587:Spef2
|
UTSW |
15 |
9,713,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Spef2
|
UTSW |
15 |
9,653,031 (GRCm39) |
missense |
probably damaging |
0.98 |
R7772:Spef2
|
UTSW |
15 |
9,704,567 (GRCm39) |
missense |
probably damaging |
0.99 |
R7838:Spef2
|
UTSW |
15 |
9,609,637 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7854:Spef2
|
UTSW |
15 |
9,596,730 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7855:Spef2
|
UTSW |
15 |
9,687,981 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7889:Spef2
|
UTSW |
15 |
9,717,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R7943:Spef2
|
UTSW |
15 |
9,601,171 (GRCm39) |
missense |
unknown |
|
R8105:Spef2
|
UTSW |
15 |
9,682,748 (GRCm39) |
missense |
probably benign |
0.06 |
R8151:Spef2
|
UTSW |
15 |
9,601,598 (GRCm39) |
missense |
unknown |
|
R8296:Spef2
|
UTSW |
15 |
9,727,629 (GRCm39) |
missense |
probably benign |
0.06 |
R8393:Spef2
|
UTSW |
15 |
9,676,615 (GRCm39) |
missense |
probably benign |
0.27 |
R8405:Spef2
|
UTSW |
15 |
9,612,643 (GRCm39) |
missense |
probably benign |
0.00 |
R8552:Spef2
|
UTSW |
15 |
9,600,765 (GRCm39) |
intron |
probably benign |
|
R8691:Spef2
|
UTSW |
15 |
9,602,005 (GRCm39) |
nonsense |
probably null |
|
R8751:Spef2
|
UTSW |
15 |
9,729,723 (GRCm39) |
nonsense |
probably null |
|
R8847:Spef2
|
UTSW |
15 |
9,668,913 (GRCm39) |
missense |
probably benign |
|
R8864:Spef2
|
UTSW |
15 |
9,599,833 (GRCm39) |
missense |
unknown |
|
R8868:Spef2
|
UTSW |
15 |
9,729,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8916:Spef2
|
UTSW |
15 |
9,725,266 (GRCm39) |
nonsense |
probably null |
|
R8935:Spef2
|
UTSW |
15 |
9,607,436 (GRCm39) |
missense |
probably damaging |
0.98 |
R8961:Spef2
|
UTSW |
15 |
9,647,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8978:Spef2
|
UTSW |
15 |
9,725,263 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9062:Spef2
|
UTSW |
15 |
9,601,717 (GRCm39) |
missense |
unknown |
|
R9076:Spef2
|
UTSW |
15 |
9,653,091 (GRCm39) |
missense |
probably benign |
0.13 |
R9149:Spef2
|
UTSW |
15 |
9,717,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R9162:Spef2
|
UTSW |
15 |
9,602,017 (GRCm39) |
missense |
unknown |
|
R9216:Spef2
|
UTSW |
15 |
9,647,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R9240:Spef2
|
UTSW |
15 |
9,578,401 (GRCm39) |
nonsense |
probably null |
|
R9278:Spef2
|
UTSW |
15 |
9,727,495 (GRCm39) |
critical splice donor site |
probably null |
|
R9341:Spef2
|
UTSW |
15 |
9,713,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R9343:Spef2
|
UTSW |
15 |
9,713,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R9389:Spef2
|
UTSW |
15 |
9,725,307 (GRCm39) |
missense |
probably damaging |
0.96 |
R9476:Spef2
|
UTSW |
15 |
9,713,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R9510:Spef2
|
UTSW |
15 |
9,713,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R9537:Spef2
|
UTSW |
15 |
9,601,885 (GRCm39) |
missense |
unknown |
|
R9575:Spef2
|
UTSW |
15 |
9,596,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R9597:Spef2
|
UTSW |
15 |
9,599,897 (GRCm39) |
missense |
unknown |
|
R9765:Spef2
|
UTSW |
15 |
9,601,945 (GRCm39) |
missense |
unknown |
|
X0025:Spef2
|
UTSW |
15 |
9,596,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCAATTGGCTCCAGGTTCC -3'
(R):5'- GCATCTCCATTGCTCGAAGCATCTC -3'
Sequencing Primer
(F):5'- CTCCAGGTTCCTGGCAC -3'
(R):5'- CCACTGTGAGTCCCATTGAG -3'
|
Posted On |
2013-06-11 |