Incidental Mutation 'R2882:Spata31d1e'
ID |
260361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1e
|
Ensembl Gene |
ENSMUSG00000051054 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1E |
Synonyms |
1700014D04Rik |
MMRRC Submission |
040470-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R2882 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
59888656-59894566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59890757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 354
(Q354H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055343]
[ENSMUST00000178508]
[ENSMUST00000180139]
|
AlphaFold |
J3QMS2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055343
|
SMART Domains |
Protein: ENSMUSP00000052403 Gene: ENSMUSG00000051054
Domain | Start | End | E-Value | Type |
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178508
|
SMART Domains |
Protein: ENSMUSP00000136897 Gene: ENSMUSG00000051054
Domain | Start | End | E-Value | Type |
Pfam:FAM75
|
66 |
99 |
7.4e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180139
AA Change: Q354H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000136424 Gene: ENSMUSG00000051054 AA Change: Q354H
Domain | Start | End | E-Value | Type |
Pfam:FAM75
|
66 |
439 |
6.9e-97 |
PFAM |
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
low complexity region
|
671 |
693 |
N/A |
INTRINSIC |
low complexity region
|
737 |
763 |
N/A |
INTRINSIC |
low complexity region
|
824 |
835 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225577
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly damaging |
Het |
|
Other mutations in Spata31d1e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
BB010:Spata31d1e
|
UTSW |
13 |
59,891,565 (GRCm39) |
missense |
probably damaging |
1.00 |
BB020:Spata31d1e
|
UTSW |
13 |
59,891,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R0838:Spata31d1e
|
UTSW |
13 |
59,890,282 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1483:Spata31d1e
|
UTSW |
13 |
59,890,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R1794:Spata31d1e
|
UTSW |
13 |
59,890,434 (GRCm39) |
missense |
probably benign |
0.22 |
R1842:Spata31d1e
|
UTSW |
13 |
59,890,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Spata31d1e
|
UTSW |
13 |
59,890,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R2027:Spata31d1e
|
UTSW |
13 |
59,890,401 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2206:Spata31d1e
|
UTSW |
13 |
59,890,920 (GRCm39) |
missense |
probably benign |
0.40 |
R2207:Spata31d1e
|
UTSW |
13 |
59,890,920 (GRCm39) |
missense |
probably benign |
0.40 |
R3508:Spata31d1e
|
UTSW |
13 |
59,890,319 (GRCm39) |
nonsense |
probably null |
|
R4447:Spata31d1e
|
UTSW |
13 |
59,890,012 (GRCm39) |
missense |
probably benign |
0.03 |
R4560:Spata31d1e
|
UTSW |
13 |
59,889,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R4846:Spata31d1e
|
UTSW |
13 |
59,890,047 (GRCm39) |
missense |
probably benign |
0.00 |
R5186:Spata31d1e
|
UTSW |
13 |
59,891,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R5510:Spata31d1e
|
UTSW |
13 |
59,890,234 (GRCm39) |
splice site |
probably null |
|
R5580:Spata31d1e
|
UTSW |
13 |
59,890,070 (GRCm39) |
missense |
probably benign |
0.00 |
R5752:Spata31d1e
|
UTSW |
13 |
59,891,016 (GRCm39) |
missense |
probably damaging |
0.96 |
R6266:Spata31d1e
|
UTSW |
13 |
59,890,126 (GRCm39) |
missense |
probably benign |
0.33 |
R6267:Spata31d1e
|
UTSW |
13 |
59,890,497 (GRCm39) |
missense |
probably benign |
0.13 |
R6296:Spata31d1e
|
UTSW |
13 |
59,890,497 (GRCm39) |
missense |
probably benign |
0.13 |
R6939:Spata31d1e
|
UTSW |
13 |
59,889,872 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6973:Spata31d1e
|
UTSW |
13 |
59,890,521 (GRCm39) |
missense |
probably benign |
0.14 |
R7107:Spata31d1e
|
UTSW |
13 |
59,889,997 (GRCm39) |
nonsense |
probably null |
|
R7123:Spata31d1e
|
UTSW |
13 |
59,891,254 (GRCm39) |
nonsense |
probably null |
|
R7254:Spata31d1e
|
UTSW |
13 |
59,889,790 (GRCm39) |
missense |
probably benign |
0.01 |
R7354:Spata31d1e
|
UTSW |
13 |
59,889,648 (GRCm39) |
nonsense |
probably null |
|
R7536:Spata31d1e
|
UTSW |
13 |
59,889,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R7729:Spata31d1e
|
UTSW |
13 |
59,889,437 (GRCm39) |
missense |
not run |
|
R7912:Spata31d1e
|
UTSW |
13 |
59,890,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R7933:Spata31d1e
|
UTSW |
13 |
59,891,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R8029:Spata31d1e
|
UTSW |
13 |
59,890,191 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8347:Spata31d1e
|
UTSW |
13 |
59,890,050 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8370:Spata31d1e
|
UTSW |
13 |
59,891,766 (GRCm39) |
missense |
probably benign |
|
R8395:Spata31d1e
|
UTSW |
13 |
59,889,540 (GRCm39) |
missense |
probably benign |
0.00 |
R8508:Spata31d1e
|
UTSW |
13 |
59,891,412 (GRCm39) |
missense |
probably benign |
0.02 |
R8930:Spata31d1e
|
UTSW |
13 |
59,890,015 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8932:Spata31d1e
|
UTSW |
13 |
59,890,015 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9127:Spata31d1e
|
UTSW |
13 |
59,890,828 (GRCm39) |
missense |
probably benign |
0.00 |
R9262:Spata31d1e
|
UTSW |
13 |
59,890,402 (GRCm39) |
missense |
probably benign |
0.00 |
R9401:Spata31d1e
|
UTSW |
13 |
59,890,012 (GRCm39) |
missense |
probably benign |
0.03 |
R9514:Spata31d1e
|
UTSW |
13 |
59,890,806 (GRCm39) |
missense |
probably damaging |
0.96 |
R9786:Spata31d1e
|
UTSW |
13 |
59,890,498 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0024:Spata31d1e
|
UTSW |
13 |
59,890,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCATGTGTCTTTGGTCCAAG -3'
(R):5'- TTCGAGCTGTGCAATAGGCC -3'
Sequencing Primer
(F):5'- CCAAGTTCTTCTTTGAGATGGTGAGC -3'
(R):5'- CAGTTCAATCCAACAGGAGTATCTTC -3'
|
Posted On |
2015-01-23 |