Incidental Mutation 'R5088:Spata31d1a'
| ID |
387593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1a
|
| Ensembl Gene |
ENSMUSG00000050876 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1A |
| Synonyms |
1700013B16Rik, Fam75d3, Fam75d1a |
| MMRRC Submission |
042677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5088 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1531 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 59848966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
| AlphaFold |
E9QA35 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066510
AA Change: V1054G
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: V1054G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
66 |
150 |
3.7e-25 |
PFAM |
|
low complexity region
|
196 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
266 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
400 |
772 |
2.9e-108 |
PFAM |
|
low complexity region
|
1144 |
1154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224469
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224982
AA Change: V1054G
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,883,939 (GRCm39) |
C640S |
probably damaging |
Het |
| 4931429L15Rik |
T |
C |
9: 46,217,038 (GRCm39) |
R246G |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,921,462 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,195,412 (GRCm39) |
L695P |
probably damaging |
Het |
| Alcam |
T |
A |
16: 52,109,290 (GRCm39) |
T328S |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,478,969 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
A |
G |
12: 84,970,889 (GRCm39) |
L642P |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,888,964 (GRCm39) |
D741G |
probably damaging |
Het |
| Bmp1 |
T |
C |
14: 70,723,659 (GRCm39) |
T726A |
possibly damaging |
Het |
| Bnip3 |
A |
G |
7: 138,496,337 (GRCm39) |
|
probably null |
Het |
| Cacng5 |
C |
G |
11: 107,768,215 (GRCm39) |
C264S |
possibly damaging |
Het |
| Calr4 |
T |
A |
4: 109,101,859 (GRCm39) |
|
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,811,422 (GRCm39) |
T230S |
probably benign |
Het |
| Cdk16 |
T |
C |
X: 20,562,566 (GRCm39) |
|
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,791,148 (GRCm39) |
E337G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,704,147 (GRCm39) |
I694V |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,312,607 (GRCm39) |
V360D |
probably damaging |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
| Cyp20a1 |
A |
T |
1: 60,402,509 (GRCm39) |
H198L |
probably damaging |
Het |
| Dnai1 |
T |
A |
4: 41,597,630 (GRCm39) |
S38T |
probably benign |
Het |
| Dnai1 |
T |
G |
4: 41,632,251 (GRCm39) |
S562A |
probably benign |
Het |
| Dpy19l4 |
G |
T |
4: 11,303,357 (GRCm39) |
T188K |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,084,621 (GRCm39) |
V304A |
probably damaging |
Het |
| Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,857,784 (GRCm39) |
|
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,727,084 (GRCm39) |
E3G |
possibly damaging |
Het |
| Glis3 |
G |
A |
19: 28,508,979 (GRCm39) |
P335L |
probably benign |
Het |
| Golph3l |
A |
T |
3: 95,524,501 (GRCm39) |
T251S |
possibly damaging |
Het |
| Hnf4g |
C |
T |
3: 3,722,181 (GRCm39) |
A445V |
probably benign |
Het |
| Hykk |
A |
G |
9: 54,853,763 (GRCm39) |
I362V |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,627,089 (GRCm39) |
V294M |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,366,348 (GRCm39) |
I92V |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,252,936 (GRCm39) |
L501P |
probably benign |
Het |
| Mpi |
G |
A |
9: 57,457,887 (GRCm39) |
T105M |
probably damaging |
Het |
| Mrpl37 |
A |
T |
4: 106,921,919 (GRCm39) |
L132H |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,350,056 (GRCm39) |
T600S |
possibly damaging |
Het |
| Npl |
A |
T |
1: 153,384,890 (GRCm39) |
I249N |
possibly damaging |
Het |
| Or10j27 |
C |
T |
1: 172,958,606 (GRCm39) |
M59I |
probably damaging |
Het |
| Or7g30 |
A |
G |
9: 19,353,067 (GRCm39) |
N286S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,809,812 (GRCm39) |
K3497E |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 162,080,095 (GRCm39) |
N235D |
probably benign |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Rcvrn |
A |
T |
11: 67,586,340 (GRCm39) |
Q33L |
probably benign |
Het |
| Rif1 |
A |
T |
2: 51,982,307 (GRCm39) |
K524I |
possibly damaging |
Het |
| Rnf139 |
A |
T |
15: 58,771,790 (GRCm39) |
N605I |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,727,129 (GRCm39) |
G2411* |
probably null |
Het |
| Scn3a |
A |
T |
2: 65,302,643 (GRCm39) |
S1268T |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,382,196 (GRCm39) |
I784F |
probably damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,837,627 (GRCm39) |
I135T |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,738,343 (GRCm39) |
N507K |
possibly damaging |
Het |
| Spata7 |
A |
T |
12: 98,635,761 (GRCm39) |
D527V |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,140,833 (GRCm39) |
T1477A |
probably benign |
Het |
| Srl |
C |
A |
16: 4,300,633 (GRCm39) |
D375Y |
probably damaging |
Het |
| Stk4 |
A |
T |
2: 163,925,608 (GRCm39) |
K58* |
probably null |
Het |
| Svep1 |
T |
G |
4: 58,120,648 (GRCm39) |
H795P |
possibly damaging |
Het |
| Trak2 |
T |
A |
1: 58,974,967 (GRCm39) |
Q75L |
probably benign |
Het |
| Ubxn2a |
T |
A |
12: 4,933,904 (GRCm39) |
N169I |
probably damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,283,473 (GRCm39) |
L52* |
probably null |
Het |
| Vmn2r108 |
A |
T |
17: 20,690,454 (GRCm39) |
N459K |
possibly damaging |
Het |
| Vstm5 |
A |
G |
9: 15,168,601 (GRCm39) |
D55G |
possibly damaging |
Het |
| Wdr24 |
T |
A |
17: 26,047,181 (GRCm39) |
|
probably null |
Het |
| Zfp13 |
C |
A |
17: 23,796,035 (GRCm39) |
E179* |
probably null |
Het |
| Zfp839 |
T |
C |
12: 110,834,610 (GRCm39) |
S546P |
probably damaging |
Het |
|
| Other mutations in Spata31d1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Spata31d1a
|
APN |
13 |
59,849,999 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01397:Spata31d1a
|
APN |
13 |
59,849,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01448:Spata31d1a
|
APN |
13 |
59,849,373 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02715:Spata31d1a
|
APN |
13 |
59,851,549 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02983:Spata31d1a
|
APN |
13 |
59,851,508 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03224:Spata31d1a
|
APN |
13 |
59,848,840 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
PIT1430001:Spata31d1a
|
UTSW |
13 |
59,849,010 (GRCm39) |
missense |
probably benign |
|
|
R0302:Spata31d1a
|
UTSW |
13 |
59,850,964 (GRCm39) |
missense |
probably benign |
|
|
R0387:Spata31d1a
|
UTSW |
13 |
59,851,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0464:Spata31d1a
|
UTSW |
13 |
59,849,573 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0606:Spata31d1a
|
UTSW |
13 |
59,850,245 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0617:Spata31d1a
|
UTSW |
13 |
59,850,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0691:Spata31d1a
|
UTSW |
13 |
59,848,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0746:Spata31d1a
|
UTSW |
13 |
59,850,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1019:Spata31d1a
|
UTSW |
13 |
59,850,182 (GRCm39) |
missense |
probably benign |
|
|
R1397:Spata31d1a
|
UTSW |
13 |
59,852,853 (GRCm39) |
splice site |
probably benign |
|
|
R1543:Spata31d1a
|
UTSW |
13 |
59,850,056 (GRCm39) |
missense |
probably benign |
|
|
R1619:Spata31d1a
|
UTSW |
13 |
59,850,247 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Spata31d1a
|
UTSW |
13 |
59,851,216 (GRCm39) |
missense |
probably benign |
|
|
R1820:Spata31d1a
|
UTSW |
13 |
59,849,069 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1885:Spata31d1a
|
UTSW |
13 |
59,849,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1909:Spata31d1a
|
UTSW |
13 |
59,850,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Spata31d1a
|
UTSW |
13 |
59,850,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2099:Spata31d1a
|
UTSW |
13 |
59,853,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2132:Spata31d1a
|
UTSW |
13 |
59,848,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2224:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2225:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2226:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2358:Spata31d1a
|
UTSW |
13 |
59,851,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2495:Spata31d1a
|
UTSW |
13 |
59,849,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3081:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3151:Spata31d1a
|
UTSW |
13 |
59,849,180 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3971:Spata31d1a
|
UTSW |
13 |
59,849,971 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4156:Spata31d1a
|
UTSW |
13 |
59,852,861 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4760:Spata31d1a
|
UTSW |
13 |
59,849,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Spata31d1a
|
UTSW |
13 |
59,848,969 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Spata31d1a
|
UTSW |
13 |
59,850,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4894:Spata31d1a
|
UTSW |
13 |
59,849,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4961:Spata31d1a
|
UTSW |
13 |
59,849,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4990:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4992:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5094:Spata31d1a
|
UTSW |
13 |
59,852,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5330:Spata31d1a
|
UTSW |
13 |
59,848,217 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5587:Spata31d1a
|
UTSW |
13 |
59,850,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5832:Spata31d1a
|
UTSW |
13 |
59,849,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6073:Spata31d1a
|
UTSW |
13 |
59,850,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6208:Spata31d1a
|
UTSW |
13 |
59,848,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6224:Spata31d1a
|
UTSW |
13 |
59,854,134 (GRCm39) |
start gained |
probably benign |
|
|
R6250:Spata31d1a
|
UTSW |
13 |
59,849,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6359:Spata31d1a
|
UTSW |
13 |
59,850,920 (GRCm39) |
missense |
probably benign |
|
|
R6806:Spata31d1a
|
UTSW |
13 |
59,851,032 (GRCm39) |
missense |
probably benign |
|
|
R6848:Spata31d1a
|
UTSW |
13 |
59,849,777 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6851:Spata31d1a
|
UTSW |
13 |
59,851,725 (GRCm39) |
missense |
unknown |
|
|
R6985:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7007:Spata31d1a
|
UTSW |
13 |
59,851,448 (GRCm39) |
missense |
probably benign |
|
|
R7037:Spata31d1a
|
UTSW |
13 |
59,848,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7124:Spata31d1a
|
UTSW |
13 |
59,850,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7271:Spata31d1a
|
UTSW |
13 |
59,849,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7346:Spata31d1a
|
UTSW |
13 |
59,851,015 (GRCm39) |
missense |
probably benign |
|
|
R7556:Spata31d1a
|
UTSW |
13 |
59,849,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7581:Spata31d1a
|
UTSW |
13 |
59,851,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7891:Spata31d1a
|
UTSW |
13 |
59,848,139 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7995:Spata31d1a
|
UTSW |
13 |
59,848,924 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8379:Spata31d1a
|
UTSW |
13 |
59,850,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8497:Spata31d1a
|
UTSW |
13 |
59,848,988 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8837:Spata31d1a
|
UTSW |
13 |
59,850,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9108:Spata31d1a
|
UTSW |
13 |
59,850,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Spata31d1a
|
UTSW |
13 |
59,850,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACAGTCCTTGTTCTTGCTC -3'
(R):5'- TCCACAGAGCTACACAAGGG -3'
Sequencing Primer
(F):5'- CTCTTGCCTGAGACATATGCAGG -3'
(R):5'- GAGAGCAACTCCCGGGTCTTC -3'
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| Posted On |
2016-06-06 |
Incidental Mutation