Incidental Mutation 'R8854:Spata31d1c'
| ID |
675193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1c
|
| Ensembl Gene |
ENSMUSG00000074849 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
| Synonyms |
4932441B19Rik, Fam75d1c |
| MMRRC Submission |
068676-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65180872-65185816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 65183804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 449
(Q449K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
| AlphaFold |
E9QAF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099427
AA Change: Q449K
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: Q449K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
G |
A |
19: 20,588,297 (GRCm39) |
W29* |
probably null |
Het |
| Ankib1 |
C |
A |
5: 3,777,489 (GRCm39) |
W467L |
probably null |
Het |
| Arhgef10 |
A |
G |
8: 15,029,798 (GRCm39) |
|
probably null |
Het |
| Arpc1b |
C |
A |
5: 145,060,405 (GRCm39) |
R66S |
probably benign |
Het |
| Atoh1 |
A |
T |
6: 64,706,189 (GRCm39) |
|
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,575,263 (GRCm39) |
D619E |
possibly damaging |
Het |
| Bbs9 |
T |
C |
9: 22,490,060 (GRCm39) |
I277T |
probably damaging |
Het |
| Cadps2 |
G |
A |
6: 23,385,507 (GRCm39) |
P772S |
probably damaging |
Het |
| Cd1d1 |
T |
A |
3: 86,905,480 (GRCm39) |
D171V |
probably damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,518,638 (GRCm38) |
S273T |
probably damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,852 (GRCm39) |
A588T |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,200,048 (GRCm39) |
K399E |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,406,327 (GRCm39) |
S98P |
probably benign |
Het |
| Cryzl2 |
A |
G |
1: 157,286,370 (GRCm39) |
K36R |
possibly damaging |
Het |
| Cxcl13 |
T |
C |
5: 96,104,861 (GRCm39) |
L11P |
unknown |
Het |
| Dbf4 |
T |
A |
5: 8,458,562 (GRCm39) |
D151V |
probably damaging |
Het |
| Eogt |
A |
T |
6: 97,108,359 (GRCm39) |
C227* |
probably null |
Het |
| Fermt3 |
T |
A |
19: 6,991,310 (GRCm39) |
D231V |
probably damaging |
Het |
| Il2rb |
T |
C |
15: 78,369,953 (GRCm39) |
T229A |
probably benign |
Het |
| Ildr1 |
T |
A |
16: 36,535,910 (GRCm39) |
Y142N |
probably damaging |
Het |
| Kcnv2 |
A |
T |
19: 27,311,258 (GRCm39) |
T542S |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,743,948 (GRCm39) |
G1348E |
possibly damaging |
Het |
| Lancl1 |
C |
T |
1: 67,073,358 (GRCm39) |
E42K |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,378,968 (GRCm39) |
D4010V |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,258,369 (GRCm39) |
V640A |
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,352,469 (GRCm39) |
T1276M |
probably damaging |
Het |
| Meioc |
T |
C |
11: 102,566,589 (GRCm39) |
M735T |
probably damaging |
Het |
| Mfsd4b5 |
C |
A |
10: 39,846,735 (GRCm39) |
V282L |
probably damaging |
Het |
| Mlx |
T |
A |
11: 100,981,951 (GRCm39) |
V286E |
|
Het |
| Ms4a18 |
G |
A |
19: 10,990,887 (GRCm39) |
T69I |
probably benign |
Het |
| Muc1 |
C |
T |
3: 89,139,412 (GRCm39) |
P604L |
probably damaging |
Het |
| Net1 |
G |
T |
13: 3,934,214 (GRCm39) |
D548E |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,281,769 (GRCm38) |
S342P |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,584,950 (GRCm39) |
K516E |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,210 (GRCm39) |
I2405N |
probably damaging |
Het |
| Nkx2-1 |
A |
T |
12: 56,580,206 (GRCm39) |
C245S |
probably benign |
Het |
| Or52ab7 |
T |
C |
7: 102,978,023 (GRCm39) |
I110T |
probably damaging |
Het |
| Or5p76 |
T |
A |
7: 108,122,936 (GRCm39) |
I74L |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,326 (GRCm39) |
Y1117C |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,865,501 (GRCm39) |
T432I |
probably benign |
Het |
| Plpp4 |
T |
A |
7: 128,909,362 (GRCm39) |
L24* |
probably null |
Het |
| Pnma8a |
T |
C |
7: 16,695,104 (GRCm39) |
S320P |
possibly damaging |
Het |
| Sass6 |
C |
A |
3: 116,399,384 (GRCm39) |
Q93K |
possibly damaging |
Het |
| Sirpb1c |
T |
C |
3: 15,887,308 (GRCm39) |
N177S |
possibly damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,363,754 (GRCm39) |
|
probably null |
Het |
| Snd1 |
A |
G |
6: 28,526,968 (GRCm39) |
H217R |
probably benign |
Het |
| Spidr |
A |
G |
16: 15,707,630 (GRCm39) |
V889A |
probably damaging |
Het |
| Suclg2 |
A |
T |
6: 95,572,650 (GRCm39) |
V105D |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,078,503 (GRCm39) |
M974K |
probably benign |
Het |
| Tbrg4 |
A |
T |
11: 6,566,691 (GRCm39) |
D605E |
probably benign |
Het |
| Tcn2 |
A |
G |
11: 3,876,074 (GRCm39) |
F118S |
possibly damaging |
Het |
| Tcstv2b |
T |
A |
13: 120,377,825 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,367,238 (GRCm39) |
H208R |
probably benign |
Het |
| Trf |
A |
G |
9: 103,107,529 (GRCm39) |
|
probably benign |
Het |
| Trpc4 |
A |
T |
3: 54,102,122 (GRCm39) |
K7* |
probably null |
Het |
| Uap1 |
G |
T |
1: 169,976,984 (GRCm39) |
P405Q |
probably damaging |
Het |
| Usp33 |
C |
A |
3: 152,073,967 (GRCm39) |
T271N |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,702,632 (GRCm39) |
D663G |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,144,126 (GRCm39) |
D608G |
probably benign |
Het |
| Wfdc16 |
G |
A |
2: 164,480,486 (GRCm39) |
P3L |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,397,938 (GRCm39) |
I791T |
probably benign |
Het |
| Zfp970 |
A |
T |
2: 177,165,088 (GRCm39) |
T5S |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 726,501 (GRCm39) |
H421Q |
possibly 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 |
|
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 |
|
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'- TTCACACACCCCAGCATTTG -3'
(R):5'- TGGATTGCAGTTGGCTCAAG -3'
Sequencing Primer
(F):5'- TCCAAGACCTCTGAAGATCAGTTAG -3'
(R):5'- GCAGTTGGCTCAAGAGGTTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation