Incidental Mutation 'R0959:Spata31d1c'
| ID |
81792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1c
|
| Ensembl Gene |
ENSMUSG00000074849 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
| Synonyms |
4932441B19Rik, Fam75d1c |
| MMRRC Submission |
039088-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65180872-65185816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65184129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 557
(P557L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
| AlphaFold |
E9QAF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099427
AA Change: P557L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: P557L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
44 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
63 |
148 |
2.4e-31 |
PFAM |
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
380 |
742 |
1.4e-120 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 95.8%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,808,434 (GRCm39) |
V919A |
probably damaging |
Het |
| Adam28 |
G |
A |
14: 68,845,387 (GRCm39) |
P761L |
possibly damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,965,566 (GRCm39) |
C525S |
possibly damaging |
Het |
| Aplf |
G |
A |
6: 87,623,065 (GRCm39) |
P338L |
probably benign |
Het |
| Arl5b |
T |
A |
2: 15,077,942 (GRCm39) |
I89N |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,297,320 (GRCm39) |
V596A |
probably damaging |
Het |
| Baz1b |
T |
G |
5: 135,273,076 (GRCm39) |
F1400C |
probably damaging |
Het |
| Ccdc149 |
A |
T |
5: 52,542,497 (GRCm39) |
L365Q |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,318,870 (GRCm39) |
S149P |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,794,775 (GRCm39) |
C275R |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,563,509 (GRCm39) |
L163P |
probably damaging |
Het |
| Dhx37 |
T |
G |
5: 125,500,496 (GRCm39) |
N570T |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,453,657 (GRCm39) |
N223D |
probably damaging |
Het |
| Gbp5 |
C |
T |
3: 142,208,885 (GRCm39) |
H143Y |
possibly damaging |
Het |
| Gfod1 |
A |
T |
13: 43,456,905 (GRCm39) |
D23E |
probably benign |
Het |
| Gm7361 |
A |
T |
5: 26,467,051 (GRCm39) |
E223D |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,274,415 (GRCm39) |
K161E |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,158,366 (GRCm39) |
N1617S |
possibly damaging |
Het |
| Med13l |
A |
T |
5: 118,892,350 (GRCm39) |
E1924D |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mtg2 |
T |
G |
2: 179,725,221 (GRCm39) |
S145A |
probably benign |
Het |
| Mug2 |
G |
A |
6: 122,062,454 (GRCm39) |
S1442N |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,836,246 (GRCm39) |
I315N |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nsrp1 |
G |
A |
11: 76,937,285 (GRCm39) |
R304* |
probably null |
Het |
| Or2a56 |
G |
T |
6: 42,932,686 (GRCm39) |
V85L |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,885,576 (GRCm39) |
F1552L |
unknown |
Het |
| Pigw |
G |
A |
11: 84,769,033 (GRCm39) |
H99Y |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,158,379 (GRCm39) |
M444I |
possibly damaging |
Het |
| Rchy1 |
A |
G |
5: 92,105,476 (GRCm39) |
F82L |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,432,626 (GRCm39) |
F125V |
probably damaging |
Het |
| Riok1 |
G |
A |
13: 38,241,149 (GRCm39) |
E435K |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,343,407 (GRCm39) |
R3590G |
probably damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,704 (GRCm39) |
E394G |
probably damaging |
Het |
| Scrib |
G |
C |
15: 75,923,310 (GRCm39) |
P1249A |
probably benign |
Het |
| Shc4 |
C |
T |
2: 125,520,607 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,037,450 (GRCm39) |
I520N |
probably damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,021,959 (GRCm39) |
I484T |
probably benign |
Het |
| Slc39a11 |
G |
T |
11: 113,354,899 (GRCm39) |
T110K |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,884,970 (GRCm39) |
S774T |
probably benign |
Het |
| Tada1 |
A |
G |
1: 166,216,198 (GRCm39) |
D133G |
probably benign |
Het |
| Tg |
A |
T |
15: 66,579,859 (GRCm39) |
T1555S |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,644,455 (GRCm39) |
E15G |
possibly damaging |
Het |
| Timd5 |
A |
T |
11: 46,427,247 (GRCm39) |
R187* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,625,440 (GRCm39) |
I15128F |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,066 (GRCm39) |
Y68C |
probably damaging |
Het |
| Uncx |
A |
T |
5: 139,532,442 (GRCm39) |
N169I |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,743,786 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,897 (GRCm39) |
D431G |
probably damaging |
Het |
| Xylb |
C |
A |
9: 119,209,091 (GRCm39) |
A311E |
possibly damaging |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
| Zbtb39 |
C |
A |
10: 127,578,931 (GRCm39) |
H502N |
probably damaging |
Het |
| Zfp82 |
A |
G |
7: 29,755,876 (GRCm39) |
L402P |
probably damaging |
Het |
| Zpbp2 |
G |
A |
11: 98,448,451 (GRCm39) |
R256Q |
probably benign |
Het |
|
| Other mutations in Spata31d1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Spata31d1c
|
APN |
13 |
65,183,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Spata31d1c
|
APN |
13 |
65,183,180 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02947:Spata31d1c
|
APN |
13 |
65,182,759 (GRCm39) |
nonsense |
probably null |
|
|
IGL03133:Spata31d1c
|
APN |
13 |
65,182,799 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03176:Spata31d1c
|
APN |
13 |
65,184,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03183:Spata31d1c
|
APN |
13 |
65,183,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03206:Spata31d1c
|
APN |
13 |
65,183,407 (GRCm39) |
missense |
probably benign |
0.41 |
|
PIT4382001:Spata31d1c
|
UTSW |
13 |
65,183,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0054:Spata31d1c
|
UTSW |
13 |
65,180,876 (GRCm39) |
start gained |
probably benign |
|
|
R1232:Spata31d1c
|
UTSW |
13 |
65,184,428 (GRCm39) |
missense |
probably benign |
|
|
R1347:Spata31d1c
|
UTSW |
13 |
65,183,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1347:Spata31d1c
|
UTSW |
13 |
65,183,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1381:Spata31d1c
|
UTSW |
13 |
65,184,368 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1573:Spata31d1c
|
UTSW |
13 |
65,182,883 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1582:Spata31d1c
|
UTSW |
13 |
65,181,038 (GRCm39) |
missense |
probably benign |
|
|
R1639:Spata31d1c
|
UTSW |
13 |
65,183,853 (GRCm39) |
missense |
probably benign |
|
|
R1716:Spata31d1c
|
UTSW |
13 |
65,181,030 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1781:Spata31d1c
|
UTSW |
13 |
65,183,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1907:Spata31d1c
|
UTSW |
13 |
65,183,690 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2012:Spata31d1c
|
UTSW |
13 |
65,183,041 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2152:Spata31d1c
|
UTSW |
13 |
65,181,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2211:Spata31d1c
|
UTSW |
13 |
65,183,753 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2571:Spata31d1c
|
UTSW |
13 |
65,184,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Spata31d1c
|
UTSW |
13 |
65,181,005 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3978:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3979:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3980:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3981:Spata31d1c
|
UTSW |
13 |
65,182,925 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4014:Spata31d1c
|
UTSW |
13 |
65,183,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,183,531 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,183,502 (GRCm39) |
nonsense |
probably null |
|
|
R4592:Spata31d1c
|
UTSW |
13 |
65,183,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4597:Spata31d1c
|
UTSW |
13 |
65,183,427 (GRCm39) |
nonsense |
probably null |
|
|
R4624:Spata31d1c
|
UTSW |
13 |
65,184,411 (GRCm39) |
missense |
probably benign |
|
|
R4641:Spata31d1c
|
UTSW |
13 |
65,182,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4863:Spata31d1c
|
UTSW |
13 |
65,183,604 (GRCm39) |
nonsense |
probably null |
|
|
R5084:Spata31d1c
|
UTSW |
13 |
65,182,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5152:Spata31d1c
|
UTSW |
13 |
65,183,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Spata31d1c
|
UTSW |
13 |
65,183,248 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5267:Spata31d1c
|
UTSW |
13 |
65,183,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5615:Spata31d1c
|
UTSW |
13 |
65,183,078 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5755:Spata31d1c
|
UTSW |
13 |
65,184,341 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5935:Spata31d1c
|
UTSW |
13 |
65,184,894 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6017:Spata31d1c
|
UTSW |
13 |
65,182,893 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6131:Spata31d1c
|
UTSW |
13 |
65,183,485 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6359:Spata31d1c
|
UTSW |
13 |
65,183,406 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6723:Spata31d1c
|
UTSW |
13 |
65,183,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7028:Spata31d1c
|
UTSW |
13 |
65,183,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7336:Spata31d1c
|
UTSW |
13 |
65,183,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Spata31d1c
|
UTSW |
13 |
65,183,175 (GRCm39) |
missense |
probably benign |
|
|
R7552:Spata31d1c
|
UTSW |
13 |
65,183,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7605:Spata31d1c
|
UTSW |
13 |
65,183,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7666:Spata31d1c
|
UTSW |
13 |
65,183,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8403:Spata31d1c
|
UTSW |
13 |
65,184,044 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8445:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8513:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8515:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8523:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8799:Spata31d1c
|
UTSW |
13 |
65,184,140 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8817:Spata31d1c
|
UTSW |
13 |
65,182,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8854:Spata31d1c
|
UTSW |
13 |
65,183,804 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8917:Spata31d1c
|
UTSW |
13 |
65,183,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9084:Spata31d1c
|
UTSW |
13 |
65,182,959 (GRCm39) |
missense |
probably benign |
|
|
R9197:Spata31d1c
|
UTSW |
13 |
65,183,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9201:Spata31d1c
|
UTSW |
13 |
65,184,773 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9261:Spata31d1c
|
UTSW |
13 |
65,184,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Spata31d1c
|
UTSW |
13 |
65,184,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Spata31d1c
|
UTSW |
13 |
65,184,741 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAATCCACTGCCTGGAATACAAC -3'
(R):5'- TGACATTGGCTCACCTCTGAGGTC -3'
Sequencing Primer
(F):5'- CACTGCCTGGAATACAACATATTG -3'
(R):5'- TCTCACAGTCAGATTGCAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation