Incidental Mutation 'R4877:Spata31d1a'
| ID |
375010 |
| 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 |
042486-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59850337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 597
(L597P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
| AlphaFold |
E9QA35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066510
AA Change: L597P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: L597P
| 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 benign
Transcript: ENSMUST00000224469
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224982
AA Change: L597P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,258,421 (GRCm39) |
Y475H |
probably damaging |
Het |
| Adamts12 |
G |
T |
15: 11,327,787 (GRCm39) |
G1388V |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,429,982 (GRCm39) |
|
probably null |
Het |
| Atp7b |
T |
A |
8: 22,518,617 (GRCm39) |
I74F |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,977,337 (GRCm39) |
Y1326H |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,871,632 (GRCm39) |
S690G |
probably damaging |
Het |
| Cbx3 |
A |
G |
6: 51,459,540 (GRCm39) |
E169G |
possibly damaging |
Het |
| Cd28 |
A |
T |
1: 60,808,861 (GRCm39) |
M192L |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,871,219 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
C |
T |
19: 39,866,056 (GRCm39) |
C179Y |
probably damaging |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,457 (GRCm39) |
V252E |
probably damaging |
Het |
| Dcp2 |
G |
T |
18: 44,550,659 (GRCm39) |
G378C |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,058,410 (GRCm39) |
I196L |
possibly damaging |
Het |
| Erbin |
G |
A |
13: 103,987,346 (GRCm39) |
P405S |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,881,292 (GRCm39) |
|
probably null |
Het |
| F830104G03Rik |
T |
G |
3: 56,797,917 (GRCm39) |
K33T |
unknown |
Het |
| Fbln2 |
C |
A |
6: 91,210,477 (GRCm39) |
H140Q |
probably damaging |
Het |
| Fxr1 |
A |
G |
3: 34,101,847 (GRCm39) |
T109A |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,785 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9949 |
C |
T |
18: 62,317,140 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
A |
G |
7: 45,504,039 (GRCm39) |
L604P |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 132,711,314 (GRCm39) |
|
probably benign |
Het |
| Ifna16 |
A |
G |
4: 88,594,681 (GRCm39) |
V138A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,226,703 (GRCm39) |
N1314I |
probably damaging |
Het |
| Kitl |
T |
C |
10: 99,916,728 (GRCm39) |
V177A |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,790,488 (GRCm39) |
Q185L |
probably damaging |
Het |
| Lhx9 |
T |
A |
1: 138,766,092 (GRCm39) |
N232I |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,788,784 (GRCm39) |
R111G |
probably benign |
Het |
| Lrrc41 |
A |
G |
4: 115,936,602 (GRCm39) |
I72M |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,069,899 (GRCm39) |
D39V |
possibly damaging |
Het |
| Lyrm7 |
A |
G |
11: 54,731,936 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,857,734 (GRCm39) |
Y2508N |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,328 (GRCm39) |
Y70F |
probably benign |
Het |
| Mc4r |
T |
C |
18: 66,992,409 (GRCm39) |
I235V |
probably benign |
Het |
| Med12l |
G |
A |
3: 59,152,214 (GRCm39) |
V1000M |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,712 (GRCm39) |
H20R |
probably benign |
Het |
| Ms4a1 |
A |
T |
19: 11,231,857 (GRCm39) |
S173T |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,228,477 (GRCm39) |
D339A |
probably damaging |
Het |
| Nars1 |
A |
T |
18: 64,633,643 (GRCm39) |
Y542* |
probably null |
Het |
| Nectin2 |
G |
A |
7: 19,451,645 (GRCm39) |
T463I |
possibly damaging |
Het |
| Nrg4 |
A |
G |
9: 55,166,679 (GRCm39) |
F64L |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 91,395,605 (GRCm39) |
I184F |
probably benign |
Het |
| Nxph2 |
C |
T |
2: 23,289,846 (GRCm39) |
P66L |
probably benign |
Het |
| Or10ag2 |
C |
T |
2: 87,248,907 (GRCm39) |
Q170* |
probably null |
Het |
| Or2v1 |
C |
A |
11: 49,025,608 (GRCm39) |
F196L |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 128,115,018 (GRCm39) |
T579S |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,457,295 (GRCm39) |
I48V |
possibly damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,841,199 (GRCm39) |
|
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,050,618 (GRCm39) |
N235K |
possibly damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,026,214 (GRCm39) |
D17G |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,568,633 (GRCm39) |
|
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,038,762 (GRCm39) |
V42A |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,263,620 (GRCm39) |
R247G |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,524,172 (GRCm39) |
V156D |
probably damaging |
Het |
| Slc22a2 |
T |
A |
17: 12,833,702 (GRCm39) |
Y461N |
possibly damaging |
Het |
| Spag6l |
T |
C |
16: 16,599,622 (GRCm39) |
K280R |
possibly damaging |
Het |
| Srr |
G |
T |
11: 74,798,606 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
| Tgif1 |
A |
C |
17: 71,156,700 (GRCm39) |
|
probably null |
Het |
| Tle3 |
A |
T |
9: 61,280,781 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,020,343 (GRCm39) |
T439A |
probably benign |
Het |
| Twist1 |
C |
T |
12: 34,008,350 (GRCm39) |
T125M |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,111,260 (GRCm39) |
D317V |
possibly damaging |
Het |
| Vmn1r227 |
T |
A |
17: 20,955,407 (GRCm39) |
|
noncoding transcript |
Het |
| Vps72 |
G |
T |
3: 95,025,498 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,144,498 (GRCm39) |
S735P |
possibly damaging |
Het |
| Zfp42 |
A |
T |
8: 43,748,725 (GRCm39) |
C259S |
possibly damaging |
Het |
| Zmiz2 |
A |
G |
11: 6,353,251 (GRCm39) |
H678R |
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 |
|
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 |
|
R5088:Spata31d1a
|
UTSW |
13 |
59,848,966 (GRCm39) |
splice site |
probably null |
|
|
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'- TTACCCCAGAGCTTGGTAGG -3'
(R):5'- CCCATGTGAAATTCAACAGCTG -3'
Sequencing Primer
(F):5'- TGTGTTGGCATTAAACTTATAGAGAG -3'
(R):5'- CAGCTGGAATACAACCTATTGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation