Incidental Mutation 'IGL02947:Spata31d1c'
ID |
364798 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spata31d1c
|
Ensembl Gene |
ENSMUSG00000074849 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
Synonyms |
4932441B19Rik, Fam75d1c |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02947
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
65180872-65185816 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 65182759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 100
(Y100*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
AlphaFold |
E9QAF1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000099427
AA Change: Y100*
|
SMART Domains |
Protein: ENSMUSP00000097024 Gene: ENSMUSG00000074849 AA Change: Y100*
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,049,957 (GRCm39) |
V13A |
probably benign |
Het |
Atp8b5 |
T |
A |
4: 43,305,774 (GRCm39) |
I106K |
possibly damaging |
Het |
Cdh15 |
T |
C |
8: 123,592,111 (GRCm39) |
S633P |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,723,134 (GRCm39) |
T228A |
probably benign |
Het |
Cfap90 |
T |
A |
13: 68,759,312 (GRCm39) |
F95L |
probably benign |
Het |
Chrng |
A |
G |
1: 87,137,606 (GRCm39) |
|
probably null |
Het |
Coprs |
T |
C |
8: 13,935,782 (GRCm39) |
E79G |
probably damaging |
Het |
Cpb2 |
A |
C |
14: 75,520,758 (GRCm39) |
Y391S |
probably damaging |
Het |
Cyp2j8 |
A |
T |
4: 96,358,815 (GRCm39) |
I368N |
probably damaging |
Het |
Ddah1 |
T |
C |
3: 145,464,842 (GRCm39) |
F76L |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,261,514 (GRCm39) |
T573A |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,835,411 (GRCm39) |
M375L |
probably benign |
Het |
Fasn |
T |
C |
11: 120,706,502 (GRCm39) |
E994G |
probably damaging |
Het |
Fem1a |
T |
A |
17: 56,565,640 (GRCm39) |
C578S |
probably benign |
Het |
Garnl3 |
A |
G |
2: 32,936,606 (GRCm39) |
S188P |
probably damaging |
Het |
Gpn3 |
T |
C |
5: 122,516,551 (GRCm39) |
V60A |
possibly damaging |
Het |
Hnrnpr |
A |
G |
4: 136,043,690 (GRCm39) |
D59G |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,145,094 (GRCm39) |
E815V |
probably damaging |
Het |
Itga9 |
C |
T |
9: 118,487,601 (GRCm39) |
T228M |
probably damaging |
Het |
Kpna7 |
T |
C |
5: 144,930,884 (GRCm39) |
I320M |
probably damaging |
Het |
Lnpep |
T |
C |
17: 17,791,234 (GRCm39) |
T437A |
probably damaging |
Het |
Ltf |
C |
T |
9: 110,868,015 (GRCm39) |
T48I |
probably benign |
Het |
Masp1 |
T |
G |
16: 23,313,476 (GRCm39) |
D153A |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,373 (GRCm39) |
R241* |
probably null |
Het |
Msantd4 |
T |
A |
9: 4,384,787 (GRCm39) |
S171T |
probably damaging |
Het |
Nos1 |
G |
A |
5: 118,081,382 (GRCm39) |
V1229M |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,179,246 (GRCm39) |
S55P |
probably benign |
Het |
Oc90 |
T |
C |
15: 65,759,983 (GRCm39) |
K212R |
probably benign |
Het |
Or2a12 |
A |
G |
6: 42,904,830 (GRCm39) |
I222V |
probably benign |
Het |
Or5t15 |
C |
T |
2: 86,681,130 (GRCm39) |
R304K |
probably benign |
Het |
Or6c202 |
C |
A |
10: 128,996,439 (GRCm39) |
C138F |
probably damaging |
Het |
Prr12 |
T |
A |
7: 44,697,980 (GRCm39) |
Q645L |
unknown |
Het |
Psmd9 |
A |
G |
5: 123,384,278 (GRCm39) |
I145V |
probably benign |
Het |
Rbks |
T |
C |
5: 31,817,407 (GRCm39) |
I121V |
probably benign |
Het |
Rnase2b |
A |
T |
14: 51,400,264 (GRCm39) |
Y115F |
probably damaging |
Het |
Sarnp |
A |
G |
10: 128,675,723 (GRCm39) |
E78G |
probably benign |
Het |
Sltm |
A |
G |
9: 70,498,946 (GRCm39) |
S1007G |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,029,720 (GRCm39) |
S222P |
probably benign |
Het |
Sult3a1 |
G |
A |
10: 33,740,046 (GRCm39) |
R35Q |
possibly damaging |
Het |
Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
Tmem53 |
C |
T |
4: 117,125,285 (GRCm39) |
Q111* |
probably null |
Het |
Togaram1 |
T |
A |
12: 65,068,274 (GRCm39) |
V1709D |
probably damaging |
Het |
Trpm3 |
A |
T |
19: 22,878,483 (GRCm39) |
D628V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,544,838 (GRCm39) |
K31009* |
probably null |
Het |
Vldlr |
A |
G |
19: 27,217,120 (GRCm39) |
I58V |
probably benign |
Het |
Vmn1r4 |
T |
C |
6: 56,934,231 (GRCm39) |
F245S |
probably benign |
Het |
Vrtn |
T |
A |
12: 84,695,258 (GRCm39) |
S3T |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,242,476 (GRCm39) |
|
probably null |
Het |
Wrnip1 |
T |
A |
13: 33,006,053 (GRCm39) |
Y632N |
probably damaging |
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 |
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 |
|
R0959:Spata31d1c
|
UTSW |
13 |
65,184,129 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-12-18 |