Incidental Mutation 'R3980:Spata31d1c'
ID |
311283 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1c
|
Ensembl Gene |
ENSMUSG00000074849 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
Synonyms |
4932441B19Rik, Fam75d1c |
MMRRC Submission |
040843-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3980 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
65180872-65185816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65182974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 172
(D172G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
AlphaFold |
E9QAF1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099427
AA Change: D172G
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097024 Gene: ENSMUSG00000074849 AA Change: D172G
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
G |
A |
15: 74,454,792 (GRCm39) |
G268R |
probably damaging |
Het |
Amacr |
T |
A |
15: 10,989,015 (GRCm39) |
Y240* |
probably null |
Het |
Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
Arhgef25 |
C |
A |
10: 127,023,089 (GRCm39) |
C106F |
probably damaging |
Het |
Bean1 |
A |
T |
8: 104,937,730 (GRCm39) |
Q103L |
possibly damaging |
Het |
Ccr9 |
A |
T |
9: 123,608,441 (GRCm39) |
N41I |
probably benign |
Het |
Ceacam16 |
A |
G |
7: 19,592,558 (GRCm39) |
F117L |
probably benign |
Het |
Col4a1 |
T |
C |
8: 11,289,155 (GRCm39) |
|
probably benign |
Het |
Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,956,056 (GRCm39) |
K3384* |
probably null |
Het |
Ctnnd2 |
T |
A |
15: 30,669,589 (GRCm39) |
H399Q |
probably benign |
Het |
Cutal |
T |
C |
2: 34,772,325 (GRCm39) |
Y30H |
possibly damaging |
Het |
Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
Defb30 |
C |
A |
14: 63,273,421 (GRCm39) |
C64F |
probably damaging |
Het |
Eif2a |
T |
C |
3: 58,446,960 (GRCm39) |
I45T |
probably benign |
Het |
Esyt1 |
T |
A |
10: 128,347,393 (GRCm39) |
D1044V |
probably damaging |
Het |
Gabpb2 |
A |
T |
3: 95,096,081 (GRCm39) |
V382E |
probably damaging |
Het |
Glb1 |
T |
A |
9: 114,246,132 (GRCm39) |
I61K |
probably damaging |
Het |
Insyn2b |
G |
A |
11: 34,352,678 (GRCm39) |
C240Y |
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,783,226 (GRCm39) |
V263A |
possibly damaging |
Het |
Kdm5b |
A |
G |
1: 134,547,408 (GRCm39) |
D1019G |
probably benign |
Het |
Klhl2 |
A |
T |
8: 65,196,109 (GRCm39) |
L545M |
probably damaging |
Het |
Klhl2 |
C |
A |
8: 65,196,115 (GRCm39) |
G543C |
probably damaging |
Het |
Krt31 |
G |
T |
11: 99,939,030 (GRCm39) |
Q264K |
probably damaging |
Het |
Lmnb1 |
A |
G |
18: 56,864,091 (GRCm39) |
D232G |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,501,855 (GRCm39) |
F859L |
probably damaging |
Het |
Map7 |
C |
A |
10: 20,143,099 (GRCm39) |
T416K |
unknown |
Het |
Med18 |
T |
A |
4: 132,190,251 (GRCm39) |
I45F |
probably benign |
Het |
Mn1 |
A |
T |
5: 111,569,636 (GRCm39) |
H1202L |
possibly damaging |
Het |
Mpp7 |
T |
C |
18: 7,444,062 (GRCm39) |
D120G |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,072,437 (GRCm39) |
F469I |
possibly damaging |
Het |
Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,369,984 (GRCm39) |
A206V |
probably benign |
Het |
Nuggc |
T |
C |
14: 65,856,542 (GRCm39) |
|
probably null |
Het |
Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
Or10ak12 |
T |
A |
4: 118,666,500 (GRCm39) |
Y187F |
probably benign |
Het |
Or51a25 |
T |
C |
7: 102,372,959 (GRCm39) |
N246S |
probably damaging |
Het |
Parp3 |
T |
C |
9: 106,351,267 (GRCm39) |
D278G |
probably damaging |
Het |
Phc3 |
T |
A |
3: 30,991,080 (GRCm39) |
Q346L |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,019,231 (GRCm39) |
L1029P |
probably damaging |
Het |
Plcb3 |
A |
G |
19: 6,943,803 (GRCm39) |
I66T |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,069,255 (GRCm39) |
S1019G |
probably benign |
Het |
Plekhg6 |
C |
A |
6: 125,350,146 (GRCm39) |
C264F |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pou4f2 |
G |
T |
8: 79,162,067 (GRCm39) |
H179N |
possibly damaging |
Het |
Prpf39 |
T |
C |
12: 65,108,231 (GRCm39) |
|
probably benign |
Het |
Rapgef1 |
G |
A |
2: 29,609,662 (GRCm39) |
V700I |
probably benign |
Het |
Rdh14 |
A |
G |
12: 10,444,703 (GRCm39) |
I185V |
probably benign |
Het |
Rnf111 |
A |
T |
9: 70,349,607 (GRCm39) |
H785Q |
probably damaging |
Het |
Rttn |
C |
T |
18: 89,035,399 (GRCm39) |
R758W |
probably benign |
Het |
Sik3 |
G |
A |
9: 46,113,361 (GRCm39) |
V601M |
probably damaging |
Het |
Slc22a14 |
T |
C |
9: 119,007,552 (GRCm39) |
T286A |
probably benign |
Het |
Slc36a3 |
G |
A |
11: 55,026,209 (GRCm39) |
T203I |
probably benign |
Het |
Spata31 |
A |
T |
13: 65,070,468 (GRCm39) |
Q872L |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,245,215 (GRCm39) |
|
probably null |
Het |
Stat6 |
T |
C |
10: 127,491,248 (GRCm39) |
V463A |
probably damaging |
Het |
Stx7 |
T |
C |
10: 24,060,947 (GRCm39) |
S225P |
probably damaging |
Het |
Sult2a7 |
A |
T |
7: 14,207,334 (GRCm39) |
|
probably benign |
Het |
Tada2a |
A |
T |
11: 83,993,946 (GRCm39) |
F179L |
probably benign |
Het |
Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,236,187 (GRCm39) |
I382V |
possibly damaging |
Het |
Tshr |
C |
A |
12: 91,504,517 (GRCm39) |
A485D |
probably damaging |
Het |
Vmn1r32 |
T |
A |
6: 66,530,698 (GRCm39) |
Y26F |
probably damaging |
Het |
Vmn1r5 |
A |
G |
6: 56,962,636 (GRCm39) |
T104A |
probably damaging |
Het |
Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
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 |
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'- CAGATCCCTACTGTGGTGTG -3'
(R):5'- GAAGCAGTTCTGTTTCCGGAG -3'
Sequencing Primer
(F):5'- GTGTGTAATGGAGCAACTGC -3'
(R):5'- CTGTTTCCGGAGTGACATATTG -3'
|
Posted On |
2015-04-29 |