Incidental Mutation 'IGL02687:Spata31d1d'
| ID |
303614 |
| 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 # |
IGL02687
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
59873739-59879566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59875678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 619
(H619L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052978]
|
| AlphaFold |
E9Q5W2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052978
AA Change: H619L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: H619L
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,005,058 (GRCm39) |
V1315A |
probably damaging |
Het |
| Adam2 |
A |
T |
14: 66,306,639 (GRCm39) |
C117S |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,894,883 (GRCm39) |
R792* |
probably null |
Het |
| Atp13a3 |
A |
G |
16: 30,156,369 (GRCm39) |
M938T |
probably damaging |
Het |
| Atp6v0a2 |
C |
T |
5: 124,791,206 (GRCm39) |
T545M |
possibly damaging |
Het |
| BC051019 |
T |
C |
7: 109,315,559 (GRCm39) |
D84G |
possibly damaging |
Het |
| Bdkrb1 |
T |
A |
12: 105,571,091 (GRCm39) |
L219H |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,187,117 (GRCm39) |
D2415G |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,101,376 (GRCm39) |
|
probably null |
Het |
| Cyp4a29 |
T |
C |
4: 115,108,397 (GRCm39) |
C374R |
probably damaging |
Het |
| Dgkb |
C |
A |
12: 38,680,628 (GRCm39) |
P776Q |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,166,896 (GRCm39) |
K1005M |
probably damaging |
Het |
| Dusp6 |
C |
A |
10: 99,102,044 (GRCm39) |
F343L |
probably damaging |
Het |
| Espl1 |
C |
T |
15: 102,221,613 (GRCm39) |
|
probably benign |
Het |
| Filip1l |
T |
C |
16: 57,391,490 (GRCm39) |
S455P |
probably benign |
Het |
| Gm7995 |
A |
G |
14: 42,133,362 (GRCm39) |
I81V |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,404 (GRCm39) |
L114P |
probably damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,747,834 (GRCm39) |
S344P |
probably damaging |
Het |
| Mpc1 |
G |
A |
17: 8,515,975 (GRCm39) |
S162N |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,030,482 (GRCm39) |
K1143* |
probably null |
Het |
| Nek10 |
T |
C |
14: 14,840,570 (GRCm38) |
L152P |
probably damaging |
Het |
| Or52ab7 |
C |
T |
7: 102,978,607 (GRCm39) |
R305* |
probably null |
Het |
| Or5ak25 |
T |
A |
2: 85,268,930 (GRCm39) |
N191Y |
possibly damaging |
Het |
| Or6c217 |
T |
C |
10: 129,737,971 (GRCm39) |
M203V |
probably benign |
Het |
| Rab11a |
A |
G |
9: 64,633,980 (GRCm39) |
I119T |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,021,728 (GRCm39) |
V661E |
possibly damaging |
Het |
| Vmn1r199 |
T |
C |
13: 22,566,961 (GRCm39) |
V85A |
possibly 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 |
|
IGL02815:Spata31d1d
|
APN |
13 |
59,874,678 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
2015-04-16 |
Incidental Mutation