Incidental Mutation 'IGL02815:Spata31d1d'
| ID |
360760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spata31d1d
|
| Ensembl Gene |
ENSMUSG00000043986 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1D |
| Synonyms |
4932411G14Rik, Fam75d1d |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
59873739-59879566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59874678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 952
(N952K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052978]
|
| AlphaFold |
E9Q5W2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052978
AA Change: N952K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: N952K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
70 |
155 |
5.4e-28 |
PFAM |
|
low complexity region
|
228 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
298 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
383 |
733 |
2.6e-93 |
PFAM |
|
low complexity region
|
1017 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224724
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,941,729 (GRCm39) |
I3F |
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
| Ap3m1 |
T |
C |
14: 21,086,750 (GRCm39) |
D393G |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,528,299 (GRCm39) |
I363F |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,324,332 (GRCm39) |
|
probably null |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,954,226 (GRCm39) |
|
probably null |
Het |
| Emc2 |
T |
A |
15: 43,371,326 (GRCm39) |
|
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,628 (GRCm39) |
S534P |
probably benign |
Het |
| Farp2 |
A |
C |
1: 93,488,007 (GRCm39) |
N78T |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,411,857 (GRCm39) |
N106K |
probably benign |
Het |
| Gc |
A |
G |
5: 89,605,518 (GRCm39) |
|
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,037,235 (GRCm39) |
Y660C |
probably damaging |
Het |
| Gfpt2 |
T |
A |
11: 49,714,084 (GRCm39) |
D280E |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,300,249 (GRCm39) |
E348G |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,741,037 (GRCm39) |
T1874M |
probably damaging |
Het |
| Klrb1b |
A |
G |
6: 128,797,937 (GRCm39) |
L52P |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,007,863 (GRCm39) |
|
probably benign |
Het |
| Med17 |
A |
C |
9: 15,173,563 (GRCm39) |
M637R |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,957,601 (GRCm39) |
L1454P |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,845,285 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,359,239 (GRCm39) |
T666A |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,360,267 (GRCm39) |
S348T |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,686,797 (GRCm39) |
K1226M |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,176,753 (GRCm39) |
|
probably benign |
Het |
| Pigr |
T |
A |
1: 130,769,558 (GRCm39) |
V123D |
probably damaging |
Het |
| Pilra |
G |
A |
5: 137,829,567 (GRCm39) |
P163S |
probably benign |
Het |
| Plekha4 |
T |
C |
7: 45,187,836 (GRCm39) |
S303P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,094,265 (GRCm39) |
E549G |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,732,430 (GRCm39) |
S440L |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,016,702 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,155,202 (GRCm39) |
S586P |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,338,979 (GRCm39) |
H95Q |
probably damaging |
Het |
| Stard10 |
T |
A |
7: 100,993,205 (GRCm39) |
C254S |
probably benign |
Het |
| Taar8a |
A |
T |
10: 23,953,278 (GRCm39) |
Y294F |
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,514,971 (GRCm39) |
|
probably null |
Het |
| Tnfrsf8 |
A |
T |
4: 145,025,348 (GRCm39) |
V75D |
possibly damaging |
Het |
| Tor1aip1 |
C |
T |
1: 155,911,662 (GRCm39) |
R107H |
probably damaging |
Het |
| Trpc4 |
C |
T |
3: 54,206,695 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,447,545 (GRCm39) |
L1885P |
possibly damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,990,856 (GRCm39) |
D835G |
possibly damaging |
Het |
| Zfp462 |
A |
T |
4: 55,051,303 (GRCm39) |
I1172F |
probably damaging |
Het |
|
| Other mutations in Spata31d1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01474:Spata31d1d
|
APN |
13 |
59,878,029 (GRCm39) |
splice site |
probably benign |
|
|
IGL02399:Spata31d1d
|
APN |
13 |
59,877,954 (GRCm39) |
splice site |
probably benign |
|
|
IGL02531:Spata31d1d
|
APN |
13 |
59,875,748 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02687:Spata31d1d
|
APN |
13 |
59,875,678 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02893:Spata31d1d
|
APN |
13 |
59,873,793 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03037:Spata31d1d
|
APN |
13 |
59,873,947 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02796:Spata31d1d
|
UTSW |
13 |
59,876,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0612:Spata31d1d
|
UTSW |
13 |
59,875,787 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1345:Spata31d1d
|
UTSW |
13 |
59,873,838 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1572:Spata31d1d
|
UTSW |
13 |
59,876,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1736:Spata31d1d
|
UTSW |
13 |
59,874,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1750:Spata31d1d
|
UTSW |
13 |
59,876,509 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1894:Spata31d1d
|
UTSW |
13 |
59,875,936 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2202:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2203:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2204:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2913:Spata31d1d
|
UTSW |
13 |
59,874,769 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3942:Spata31d1d
|
UTSW |
13 |
59,875,276 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4513:Spata31d1d
|
UTSW |
13 |
59,876,368 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4824:Spata31d1d
|
UTSW |
13 |
59,877,055 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4959:Spata31d1d
|
UTSW |
13 |
59,875,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Spata31d1d
|
UTSW |
13 |
59,875,334 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5406:Spata31d1d
|
UTSW |
13 |
59,876,592 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5618:Spata31d1d
|
UTSW |
13 |
59,874,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5688:Spata31d1d
|
UTSW |
13 |
59,874,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5741:Spata31d1d
|
UTSW |
13 |
59,876,500 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5867:Spata31d1d
|
UTSW |
13 |
59,875,054 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5930:Spata31d1d
|
UTSW |
13 |
59,874,829 (GRCm39) |
missense |
probably benign |
|
|
R6263:Spata31d1d
|
UTSW |
13 |
59,873,797 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6267:Spata31d1d
|
UTSW |
13 |
59,876,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6296:Spata31d1d
|
UTSW |
13 |
59,876,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6597:Spata31d1d
|
UTSW |
13 |
59,873,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6985:Spata31d1d
|
UTSW |
13 |
59,879,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Spata31d1d
|
UTSW |
13 |
59,876,046 (GRCm39) |
missense |
probably benign |
|
|
R7174:Spata31d1d
|
UTSW |
13 |
59,876,394 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7322:Spata31d1d
|
UTSW |
13 |
59,874,790 (GRCm39) |
missense |
probably benign |
|
|
R7444:Spata31d1d
|
UTSW |
13 |
59,875,007 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7946:Spata31d1d
|
UTSW |
13 |
59,878,606 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8206:Spata31d1d
|
UTSW |
13 |
59,879,344 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8912:Spata31d1d
|
UTSW |
13 |
59,875,136 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8995:Spata31d1d
|
UTSW |
13 |
59,874,421 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9215:Spata31d1d
|
UTSW |
13 |
59,875,823 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9800:Spata31d1d
|
UTSW |
13 |
59,874,637 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Spata31d1d
|
UTSW |
13 |
59,873,981 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2015-12-18 |
Incidental Mutation