Incidental Mutation 'IGL02893:Spata31d1d'
| ID |
363292 |
| 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 # |
IGL02893
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
59873739-59879566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59873793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1247
(K1247N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052978]
|
| AlphaFold |
E9Q5W2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052978
AA Change: K1247N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: K1247N
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,543 (GRCm39) |
V802A |
probably damaging |
Het |
| Acsl6 |
G |
A |
11: 54,236,725 (GRCm39) |
V540M |
probably damaging |
Het |
| Ahctf1 |
A |
C |
1: 179,603,576 (GRCm39) |
Y823* |
probably null |
Het |
| Bbs1 |
T |
A |
19: 4,947,604 (GRCm39) |
K317* |
probably null |
Het |
| Cand2 |
T |
C |
6: 115,768,921 (GRCm39) |
L577P |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,237,180 (GRCm39) |
D449V |
probably damaging |
Het |
| Col28a1 |
C |
T |
6: 8,103,534 (GRCm39) |
G421S |
probably damaging |
Het |
| Dgkd |
A |
G |
1: 87,842,930 (GRCm39) |
|
probably benign |
Het |
| Entpd1 |
T |
C |
19: 40,715,961 (GRCm39) |
V347A |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,765,021 (GRCm39) |
|
probably benign |
Het |
| Fam20a |
G |
A |
11: 109,612,414 (GRCm39) |
A43V |
probably benign |
Het |
| Fbxo9 |
A |
G |
9: 77,989,377 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gale |
T |
C |
4: 135,694,913 (GRCm39) |
V295A |
probably benign |
Het |
| Gpr139 |
A |
T |
7: 118,744,366 (GRCm39) |
V73D |
probably damaging |
Het |
| Hpca |
A |
T |
4: 129,012,215 (GRCm39) |
M107K |
probably damaging |
Het |
| Igdcc4 |
G |
T |
9: 65,040,353 (GRCm39) |
V1002F |
probably damaging |
Het |
| Irx4 |
T |
A |
13: 73,416,897 (GRCm39) |
L431H |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,980,113 (GRCm39) |
T6A |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,305,161 (GRCm39) |
R263C |
possibly damaging |
Het |
| Meikin |
G |
A |
11: 54,308,584 (GRCm39) |
C394Y |
possibly damaging |
Het |
| Mmp25 |
T |
C |
17: 23,863,025 (GRCm39) |
T129A |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,988 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,457,632 (GRCm39) |
M171K |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,570,466 (GRCm39) |
H509Y |
possibly damaging |
Het |
| Nwd1 |
A |
T |
8: 73,394,129 (GRCm39) |
H464L |
probably damaging |
Het |
| Or5k1 |
A |
G |
16: 58,618,020 (GRCm39) |
L63P |
probably damaging |
Het |
| Paqr5 |
G |
A |
9: 61,876,150 (GRCm39) |
A128V |
probably benign |
Het |
| Pcdhb10 |
G |
A |
18: 37,546,687 (GRCm39) |
V588M |
probably damaging |
Het |
| Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
| Rnf31 |
T |
A |
14: 55,836,566 (GRCm39) |
F800Y |
probably damaging |
Het |
| Sag |
T |
G |
1: 87,762,315 (GRCm39) |
S327A |
probably benign |
Het |
| Sdf4 |
T |
C |
4: 156,080,985 (GRCm39) |
|
probably benign |
Het |
| Slc10a6 |
A |
T |
5: 103,776,739 (GRCm39) |
D120E |
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,604,914 (GRCm39) |
V207A |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 7,000,373 (GRCm39) |
L181P |
probably damaging |
Het |
| Tbc1d32 |
T |
C |
10: 55,893,799 (GRCm39) |
E1258G |
probably damaging |
Het |
| Tmem63b |
T |
G |
17: 45,972,826 (GRCm39) |
H656P |
probably damaging |
Het |
| Tmem69 |
T |
A |
4: 116,410,926 (GRCm39) |
M15L |
probably benign |
Het |
| Tmprss7 |
T |
A |
16: 45,489,891 (GRCm39) |
I444F |
possibly damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,614,210 (GRCm39) |
R168L |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,433,251 (GRCm39) |
Y2095C |
possibly damaging |
Het |
| Ube3c |
A |
G |
5: 29,837,761 (GRCm39) |
Y643C |
probably damaging |
Het |
| Ywhaq |
G |
A |
12: 21,446,410 (GRCm39) |
A152V |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,886,619 (GRCm39) |
I813F |
probably benign |
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 |
|
IGL02815:Spata31d1d
|
APN |
13 |
59,874,678 (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