Incidental Mutation 'R6073:Spata31d1a'
ID |
482595 |
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 |
044234-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6073 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59850808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 440
(N440I)
|
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: N440I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128533 Gene: ENSMUSG00000050876 AA Change: N440I
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: N440I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
Validation Efficiency |
97% (57/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb2 |
A |
T |
18: 62,312,537 (GRCm39) |
M96K |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,143,668 (GRCm39) |
|
probably null |
Het |
Bnip5 |
A |
T |
17: 29,123,597 (GRCm39) |
V367D |
probably damaging |
Het |
C3 |
C |
T |
17: 57,513,223 (GRCm39) |
G183R |
probably null |
Het |
Cad |
A |
G |
5: 31,219,906 (GRCm39) |
T753A |
possibly damaging |
Het |
Cc2d2a |
C |
T |
5: 43,887,317 (GRCm39) |
T1249M |
probably damaging |
Het |
Cd74 |
G |
A |
18: 60,944,558 (GRCm39) |
|
probably null |
Het |
Cenpc1 |
A |
G |
5: 86,206,012 (GRCm39) |
|
probably null |
Het |
Cenpe |
T |
A |
3: 134,965,834 (GRCm39) |
L2104* |
probably null |
Het |
Cttnbp2 |
A |
G |
6: 18,434,232 (GRCm39) |
I542T |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,448,368 (GRCm39) |
D97G |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,896,274 (GRCm39) |
D3546G |
probably benign |
Het |
Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epb41l2 |
T |
G |
10: 25,377,730 (GRCm39) |
H597Q |
probably damaging |
Het |
Erbin |
G |
A |
13: 103,981,429 (GRCm39) |
Q499* |
probably null |
Het |
Erc2 |
A |
T |
14: 27,733,593 (GRCm39) |
I556F |
probably benign |
Het |
Fscn2 |
G |
T |
11: 120,252,613 (GRCm39) |
E27* |
probably null |
Het |
Fsd1l |
A |
G |
4: 53,679,994 (GRCm39) |
T231A |
probably damaging |
Het |
G6pc1 |
T |
A |
11: 101,258,802 (GRCm39) |
N60K |
probably benign |
Het |
Gm43302 |
A |
G |
5: 105,438,825 (GRCm39) |
V21A |
probably damaging |
Het |
Heatr3 |
G |
T |
8: 88,864,768 (GRCm39) |
A41S |
probably benign |
Het |
Hrct1 |
T |
C |
4: 43,727,543 (GRCm39) |
|
probably benign |
Het |
Ihh |
T |
C |
1: 74,990,438 (GRCm39) |
|
probably benign |
Het |
Jph3 |
A |
T |
8: 122,480,291 (GRCm39) |
Y323F |
probably damaging |
Het |
Kcnj5 |
T |
C |
9: 32,229,096 (GRCm39) |
D34G |
probably damaging |
Het |
Magi2 |
G |
A |
5: 20,774,286 (GRCm39) |
E231K |
probably damaging |
Het |
Muc5b |
A |
C |
7: 141,412,025 (GRCm39) |
Y1657S |
unknown |
Het |
Muc5b |
G |
A |
7: 141,402,797 (GRCm39) |
C667Y |
unknown |
Het |
Myo10 |
G |
A |
15: 25,736,728 (GRCm39) |
C459Y |
probably damaging |
Het |
Nemp1 |
A |
G |
10: 127,525,112 (GRCm39) |
K40E |
probably benign |
Het |
Nipsnap1 |
T |
C |
11: 4,838,895 (GRCm39) |
F107S |
possibly damaging |
Het |
Ntrk1 |
T |
C |
3: 87,698,677 (GRCm39) |
|
probably null |
Het |
Pabpc1 |
A |
G |
15: 36,600,895 (GRCm39) |
I305T |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,145,716 (GRCm39) |
F2736S |
probably damaging |
Het |
Pnldc1 |
T |
C |
17: 13,109,250 (GRCm39) |
Y450C |
probably null |
Het |
Polr2g |
A |
T |
19: 8,774,673 (GRCm39) |
V70E |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,424,838 (GRCm39) |
I202V |
probably damaging |
Het |
Prpf8 |
T |
C |
11: 75,384,848 (GRCm39) |
|
probably null |
Het |
Rfxap |
T |
C |
3: 54,714,708 (GRCm39) |
Y130C |
probably damaging |
Het |
Rpl3l |
A |
G |
17: 24,949,861 (GRCm39) |
E20G |
probably benign |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Slc39a10 |
T |
C |
1: 46,871,772 (GRCm39) |
D389G |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,303,101 (GRCm39) |
H496R |
probably damaging |
Het |
Spast |
G |
A |
17: 74,680,300 (GRCm39) |
V420M |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,987,470 (GRCm39) |
T876I |
probably damaging |
Het |
Tdrd1 |
G |
T |
19: 56,831,655 (GRCm39) |
E349* |
probably null |
Het |
Tie1 |
A |
G |
4: 118,339,587 (GRCm39) |
V398A |
probably benign |
Het |
Tmem255b |
T |
A |
8: 13,506,958 (GRCm39) |
L229Q |
probably damaging |
Het |
Tmem59 |
T |
A |
4: 107,050,598 (GRCm39) |
|
probably null |
Het |
Trim3 |
G |
A |
7: 105,266,746 (GRCm39) |
R479C |
probably damaging |
Het |
Ucp2 |
G |
A |
7: 100,147,338 (GRCm39) |
V131M |
possibly damaging |
Het |
Vars1 |
A |
G |
17: 35,220,505 (GRCm39) |
D29G |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,258,184 (GRCm39) |
K343R |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,207,019 (GRCm39) |
K1085E |
possibly damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp963 |
A |
T |
8: 70,195,853 (GRCm39) |
C86* |
probably null |
Het |
Zfp977 |
A |
G |
7: 42,230,165 (GRCm39) |
I120T |
probably benign |
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 |
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 |
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'- CCTTAGAGTTGGCAAGGGAG -3'
(R):5'- AATGCCATCAAATACTTCAGGGG -3'
|
Posted On |
2017-07-14 |