Incidental Mutation 'R1820:Spata31d1a'
| ID |
204806 |
| 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 |
039848-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1820 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59849069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1020
(C1020S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
| AlphaFold |
E9QA35 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066510
AA Change: C1020S
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: C1020S
| 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 |
possibly damaging
Transcript: ENSMUST00000224982
AA Change: C1020S
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,197,018 (GRCm39) |
V197A |
possibly damaging |
Het |
| 9230109A22Rik |
T |
C |
15: 25,139,176 (GRCm39) |
|
noncoding transcript |
Het |
| Acbd3 |
A |
G |
1: 180,572,703 (GRCm39) |
N321S |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,054,156 (GRCm39) |
|
probably null |
Het |
| Aldh5a1 |
T |
C |
13: 25,111,555 (GRCm39) |
D124G |
probably benign |
Het |
| Arhgap35 |
G |
A |
7: 16,295,874 (GRCm39) |
R1064W |
possibly damaging |
Het |
| Arhgef9 |
T |
A |
X: 94,125,142 (GRCm39) |
I225F |
probably damaging |
Het |
| Arl16 |
T |
C |
11: 120,357,587 (GRCm39) |
T43A |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,485 (GRCm39) |
W409R |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,885,655 (GRCm39) |
H320L |
probably damaging |
Het |
| Chac2 |
T |
A |
11: 30,927,496 (GRCm39) |
N141I |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,944,913 (GRCm39) |
G211C |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,299,129 (GRCm39) |
K3106E |
unknown |
Het |
| Cwf19l1 |
T |
A |
19: 44,115,826 (GRCm39) |
Y201F |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,973,153 (GRCm39) |
L114* |
probably null |
Het |
| Fdps |
A |
T |
3: 89,002,350 (GRCm39) |
H249Q |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,573,136 (GRCm39) |
T938S |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,756 (GRCm39) |
Y329F |
probably damaging |
Het |
| Kctd8 |
T |
A |
5: 69,497,684 (GRCm39) |
I321F |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,525,408 (GRCm39) |
R299L |
possibly damaging |
Het |
| Kif23 |
T |
C |
9: 61,833,720 (GRCm39) |
T494A |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,678,545 (GRCm39) |
H208R |
probably damaging |
Het |
| Lipo5 |
A |
T |
19: 33,441,995 (GRCm39) |
|
probably null |
Het |
| Lrrc28 |
G |
T |
7: 67,290,859 (GRCm39) |
T54K |
probably damaging |
Het |
| Luc7l2 |
G |
A |
6: 38,575,754 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
A |
G |
7: 80,008,681 (GRCm39) |
F899L |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,786,002 (GRCm39) |
I633T |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,107,835 (GRCm39) |
I981F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,612 (GRCm39) |
S138T |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,695 (GRCm39) |
I91T |
possibly damaging |
Het |
| Pank1 |
A |
G |
19: 34,855,084 (GRCm39) |
|
probably null |
Het |
| Phc2 |
C |
T |
4: 128,637,336 (GRCm39) |
A47V |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,466,954 (GRCm39) |
R262G |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,914 (GRCm39) |
P300Q |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,849,780 (GRCm39) |
S345T |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,570,958 (GRCm39) |
T514A |
probably benign |
Het |
| Psmd5 |
T |
C |
2: 34,760,758 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
G |
10: 51,599,221 (GRCm39) |
|
probably null |
Het |
| Rhbdd2 |
G |
A |
5: 135,664,903 (GRCm39) |
C78Y |
probably damaging |
Het |
| Rnf157 |
G |
T |
11: 116,245,477 (GRCm39) |
P313T |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,602,202 (GRCm39) |
L4560P |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,996,990 (GRCm39) |
M268K |
possibly damaging |
Het |
| Scd3 |
A |
T |
19: 44,230,245 (GRCm39) |
T343S |
probably benign |
Het |
| Scimp |
A |
T |
11: 70,682,423 (GRCm39) |
S98T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,680,461 (GRCm39) |
N207S |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
| Sp1 |
T |
A |
15: 102,317,511 (GRCm39) |
S343R |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,122,486 (GRCm39) |
N317S |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,776,624 (GRCm39) |
D224G |
probably damaging |
Het |
| St8sia3 |
T |
C |
18: 64,402,703 (GRCm39) |
I114T |
probably damaging |
Het |
| Zscan5b |
C |
A |
7: 6,242,162 (GRCm39) |
H460Q |
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 |
|
|
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 |
|
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'- ACCTGAGAAACTGCCATGTCC -3'
(R):5'- CCAACACATGAGAGATTGGCTTC -3'
Sequencing Primer
(F):5'- AAGTCATTTCTTGTGGGGCAAAG -3'
(R):5'- TTCCAGCACCAACACACAAGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation