Incidental Mutation 'R5615:Spata31d1c'
ID |
438210 |
Institutional Source |
Beutler Lab
|
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 # |
R5615 (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 A
at 65183078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 207
(L207I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
AlphaFold |
E9QAF1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099427
AA Change: L207I
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097024 Gene: ENSMUSG00000074849 AA Change: L207I
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: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,346,218 (GRCm39) |
L884H |
probably damaging |
Het |
Ahr |
A |
G |
12: 35,553,884 (GRCm39) |
V745A |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,431,295 (GRCm39) |
S830T |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,136,125 (GRCm39) |
T1123A |
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,629,792 (GRCm39) |
|
probably null |
Het |
Bcas3 |
T |
A |
11: 85,361,587 (GRCm39) |
C250S |
probably damaging |
Het |
Bckdk |
T |
C |
7: 127,506,489 (GRCm39) |
I272T |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,287,916 (GRCm39) |
K1897E |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,842,711 (GRCm39) |
I586F |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,367,012 (GRCm39) |
D1121G |
probably damaging |
Het |
Clasrp |
A |
G |
7: 19,320,372 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,199,351 (GRCm39) |
K912N |
probably damaging |
Het |
Dock4 |
G |
T |
12: 40,699,479 (GRCm39) |
R231L |
probably benign |
Het |
Ell |
G |
A |
8: 71,043,382 (GRCm39) |
S505N |
probably benign |
Het |
Ephb6 |
A |
G |
6: 41,596,225 (GRCm39) |
T833A |
probably benign |
Het |
Hemk1 |
T |
A |
9: 107,208,023 (GRCm39) |
|
probably null |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hspa12a |
T |
C |
19: 58,793,082 (GRCm39) |
I368V |
possibly damaging |
Het |
Igkv3-3 |
A |
T |
6: 70,664,214 (GRCm39) |
T19S |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,465,561 (GRCm39) |
A2158T |
possibly damaging |
Het |
Lancl2 |
T |
C |
6: 57,699,496 (GRCm39) |
Y104H |
probably damaging |
Het |
Leng8 |
G |
T |
7: 4,147,957 (GRCm39) |
E634* |
probably null |
Het |
Lrrk1 |
A |
T |
7: 65,937,363 (GRCm39) |
C930S |
probably damaging |
Het |
Lvrn |
C |
T |
18: 46,983,395 (GRCm39) |
S46L |
possibly damaging |
Het |
Mcidas |
G |
A |
13: 113,133,959 (GRCm39) |
V148I |
probably benign |
Het |
Mprip |
A |
T |
11: 59,649,313 (GRCm39) |
T1006S |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,293,234 (GRCm39) |
M106L |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mtor |
G |
A |
4: 148,622,733 (GRCm39) |
V1938I |
possibly damaging |
Het |
Muc2 |
A |
G |
7: 141,277,446 (GRCm39) |
D46G |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or10ag52 |
T |
A |
2: 87,044,083 (GRCm39) |
F282L |
probably benign |
Het |
Or6c215 |
A |
T |
10: 129,637,636 (GRCm39) |
C253S |
probably damaging |
Het |
Osbp2 |
C |
T |
11: 3,813,356 (GRCm39) |
G171D |
probably benign |
Het |
Otud6b |
A |
T |
4: 14,818,187 (GRCm39) |
M238K |
possibly damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,279,476 (GRCm39) |
G819R |
probably benign |
Het |
Pcdhac2 |
G |
T |
18: 37,279,477 (GRCm39) |
G819V |
probably benign |
Het |
Pcdhga12 |
T |
G |
18: 37,901,132 (GRCm39) |
S655A |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,356,842 (GRCm39) |
I756V |
probably benign |
Het |
Plekhd1 |
T |
A |
12: 80,767,364 (GRCm39) |
S251T |
probably damaging |
Het |
Ppp2r1a |
A |
T |
17: 21,179,249 (GRCm39) |
T96S |
probably benign |
Het |
Qser1 |
A |
C |
2: 104,620,039 (GRCm39) |
S258A |
possibly damaging |
Het |
Rsph4a |
G |
A |
10: 33,785,324 (GRCm39) |
A412T |
probably benign |
Het |
Sanbr |
A |
T |
11: 23,556,759 (GRCm39) |
L407H |
probably damaging |
Het |
Sass6 |
T |
A |
3: 116,401,135 (GRCm39) |
C159S |
probably benign |
Het |
Scaf4 |
T |
C |
16: 90,048,848 (GRCm39) |
Q322R |
unknown |
Het |
Sema6d |
C |
T |
2: 124,498,821 (GRCm39) |
H244Y |
probably damaging |
Het |
Sigirr |
T |
G |
7: 140,672,632 (GRCm39) |
L163F |
probably damaging |
Het |
Tacstd2 |
A |
G |
6: 67,512,033 (GRCm39) |
F220L |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tnxb |
C |
A |
17: 34,902,392 (GRCm39) |
Q1082K |
probably damaging |
Het |
Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,807,297 (GRCm39) |
R1014C |
probably damaging |
Het |
Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
T |
A |
7: 41,916,677 (GRCm39) |
M430K |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,917 (GRCm39) |
E779G |
probably damaging |
Het |
Zfp599 |
T |
C |
9: 22,165,165 (GRCm39) |
D70G |
probably benign |
Het |
Zmym1 |
A |
T |
4: 126,943,191 (GRCm39) |
I301N |
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 |
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 |
|
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 |
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'- CCAGTCTGGACTCCACAGTTTC -3'
(R):5'- GCATGACTTGAACTGCAAATGC -3'
Sequencing Primer
(F):5'- CAGTTTCTGTGACGGAGACAGC -3'
(R):5'- GACTTGAACTGCAAATGCCATTG -3'
|
Posted On |
2016-10-26 |