Incidental Mutation 'R2495:Spata31d1a'
| ID |
251010 |
| 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 |
040409-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2495 (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 59849807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 774
(S774P)
|
| 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: S774P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: S774P
| 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: S774P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
| Meta Mutation Damage Score |
0.1075 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,536,109 (GRCm39) |
F125S |
unknown |
Het |
| Abhd17c |
C |
T |
7: 83,759,884 (GRCm39) |
W290* |
probably null |
Het |
| Acsl5 |
A |
T |
19: 55,282,031 (GRCm39) |
K536* |
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,034,749 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
A |
G |
6: 34,823,699 (GRCm39) |
H788R |
probably damaging |
Het |
| Agrp |
T |
C |
8: 106,293,408 (GRCm39) |
N126D |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,615,663 (GRCm39) |
I349T |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,622,280 (GRCm39) |
W1610R |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,227,567 (GRCm39) |
L1224P |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,881,706 (GRCm39) |
H798Y |
possibly damaging |
Het |
| Capn11 |
T |
A |
17: 45,949,689 (GRCm39) |
M426L |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,700,108 (GRCm39) |
K290E |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,991,201 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 18,860,579 (GRCm39) |
M389K |
probably damaging |
Het |
| Cnksr1 |
A |
T |
4: 133,959,473 (GRCm39) |
L387Q |
probably benign |
Het |
| Cntrob |
G |
T |
11: 69,213,749 (GRCm39) |
P14T |
probably damaging |
Het |
| Crmp1 |
G |
A |
5: 37,403,441 (GRCm39) |
|
probably null |
Het |
| Dido1 |
A |
G |
2: 180,331,181 (GRCm39) |
V89A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,645,040 (GRCm39) |
I999F |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,377,453 (GRCm39) |
L1746Q |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,238,454 (GRCm39) |
S3897P |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,040,545 (GRCm39) |
F887L |
probably benign |
Het |
| Gm21961 |
T |
A |
15: 64,886,722 (GRCm39) |
H11L |
unknown |
Het |
| Gm4559 |
A |
T |
7: 141,827,557 (GRCm39) |
C182S |
unknown |
Het |
| Golga3 |
T |
A |
5: 110,355,462 (GRCm39) |
S939T |
probably damaging |
Het |
| Got2 |
A |
G |
8: 96,614,918 (GRCm39) |
S6P |
possibly damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,307 (GRCm39) |
H1410Q |
probably damaging |
Het |
| Gpx5 |
T |
A |
13: 21,475,610 (GRCm39) |
T39S |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,710,180 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Gsn |
A |
C |
2: 35,193,205 (GRCm39) |
N538T |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,874,705 (GRCm39) |
S1930P |
probably damaging |
Het |
| Krt6b |
A |
T |
15: 101,586,757 (GRCm39) |
F286Y |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 103,038,242 (GRCm39) |
R854C |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,507,776 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,626,819 (GRCm39) |
|
probably benign |
Het |
| Msc |
T |
G |
1: 14,825,473 (GRCm39) |
Y167S |
probably benign |
Het |
| Mycbp2 |
T |
G |
14: 103,437,554 (GRCm39) |
K2103Q |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,023,421 (GRCm39) |
D1586Y |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,427 (GRCm39) |
D791E |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,746,616 (GRCm39) |
T1272A |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,247,105 (GRCm39) |
L15P |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,351,074 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,203,320 (GRCm39) |
D1091E |
possibly damaging |
Het |
| Rbbp8nl |
C |
A |
2: 179,920,895 (GRCm39) |
K496N |
probably null |
Het |
| Rbm26 |
T |
C |
14: 105,388,748 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
C |
10: 51,602,771 (GRCm39) |
|
probably benign |
Het |
| Rras |
G |
A |
7: 44,667,488 (GRCm39) |
G17R |
probably damaging |
Het |
| Shisa6 |
G |
A |
11: 66,108,459 (GRCm39) |
P473S |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,822 (GRCm39) |
K316E |
probably damaging |
Het |
| Slco1a7 |
C |
A |
6: 141,711,503 (GRCm39) |
M69I |
probably benign |
Het |
| Spsb4 |
T |
C |
9: 96,877,840 (GRCm39) |
Y161C |
probably damaging |
Het |
| Taf3 |
G |
T |
2: 9,957,644 (GRCm39) |
N174K |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trnt1 |
T |
A |
6: 106,750,330 (GRCm39) |
V78E |
possibly damaging |
Het |
| Ubox5 |
A |
T |
2: 130,441,441 (GRCm39) |
C415* |
probably null |
Het |
| Ucn2 |
C |
T |
9: 108,815,477 (GRCm39) |
P80S |
possibly damaging |
Het |
| Vmn2r10 |
G |
A |
5: 109,143,961 (GRCm39) |
T663I |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,222 (GRCm39) |
F337L |
probably null |
Het |
| Zfp287 |
A |
T |
11: 62,605,459 (GRCm39) |
C483S |
probably damaging |
Het |
| Zyg11b |
A |
G |
4: 108,101,921 (GRCm39) |
|
probably null |
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 |
|
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'- CAAATGCCATCCTTCTGCGG -3'
(R):5'- AGAGATCCCATACAATGTAAGTCCTG -3'
Sequencing Primer
(F):5'- CTTCTGCGGAAGGCTGTGATG -3'
(R):5'- CCCATACAATGTAAGTCCTGTGGAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation