Incidental Mutation 'R8370:Spata31d1e'
ID |
646352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1e
|
Ensembl Gene |
ENSMUSG00000051054 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1E |
Synonyms |
1700014D04Rik |
MMRRC Submission |
067809-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R8370 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
59888656-59894566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59891766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 18
(D18G)
|
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
AA Change: D18G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136897 Gene: ENSMUSG00000051054 AA Change: D18G
Domain | Start | End | E-Value | Type |
Pfam:FAM75
|
66 |
99 |
7.4e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180139
AA Change: D18G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136424 Gene: ENSMUSG00000051054 AA Change: D18G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
A |
G |
16: 85,696,881 (GRCm39) |
V92A |
possibly damaging |
Het |
Armc2 |
T |
A |
10: 41,799,833 (GRCm39) |
N675I |
possibly damaging |
Het |
Cav1 |
A |
G |
6: 17,339,293 (GRCm39) |
H126R |
possibly damaging |
Het |
Ccdc202 |
T |
C |
14: 96,119,930 (GRCm39) |
L229P |
probably damaging |
Het |
Clca4b |
A |
G |
3: 144,631,824 (GRCm39) |
F227S |
probably damaging |
Het |
Clec4a4 |
G |
A |
6: 122,968,758 (GRCm39) |
G41D |
probably damaging |
Het |
Commd1 |
A |
T |
11: 22,932,104 (GRCm39) |
L51Q |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,553,192 (GRCm39) |
V1245D |
probably damaging |
Het |
Ephb2 |
A |
G |
4: 136,383,302 (GRCm39) |
I925T |
possibly damaging |
Het |
Eprs1 |
T |
A |
1: 185,131,454 (GRCm39) |
I700K |
probably damaging |
Het |
Fry |
C |
A |
5: 150,319,284 (GRCm39) |
T983K |
probably damaging |
Het |
Gm14325 |
T |
C |
2: 177,474,385 (GRCm39) |
I232M |
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,732,679 (GRCm39) |
H683R |
probably benign |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Kif9 |
C |
T |
9: 110,317,681 (GRCm39) |
R113C |
probably damaging |
Het |
Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,843,280 (GRCm39) |
E489G |
possibly damaging |
Het |
Lhb |
A |
G |
7: 45,071,066 (GRCm39) |
D97G |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,888,117 (GRCm39) |
D2381G |
|
Het |
Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
Mmp17 |
A |
G |
5: 129,682,642 (GRCm39) |
D427G |
probably damaging |
Het |
Mrps18b |
T |
C |
17: 36,223,254 (GRCm39) |
I131V |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,398,882 (GRCm39) |
K567* |
probably null |
Het |
Ncam1 |
T |
A |
9: 49,468,431 (GRCm39) |
R343* |
probably null |
Het |
Nfrkb |
T |
A |
9: 31,316,875 (GRCm39) |
N591K |
probably damaging |
Het |
Numb |
A |
T |
12: 83,854,974 (GRCm39) |
C117* |
probably null |
Het |
Or5b123 |
T |
A |
19: 13,596,661 (GRCm39) |
I2N |
probably damaging |
Het |
Or6ae1 |
A |
T |
7: 139,742,681 (GRCm39) |
Y61N |
probably damaging |
Het |
Pfpl |
A |
T |
19: 12,407,275 (GRCm39) |
N509Y |
probably damaging |
Het |
Prss58 |
C |
A |
6: 40,872,358 (GRCm39) |
G222C |
probably damaging |
Het |
Ptx4 |
C |
A |
17: 25,342,314 (GRCm39) |
P263Q |
possibly damaging |
Het |
Ribc2 |
T |
G |
15: 85,027,489 (GRCm39) |
H323Q |
probably benign |
Het |
Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
G |
A |
17: 71,701,908 (GRCm39) |
T1028M |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,093,022 (GRCm39) |
I806V |
probably benign |
Het |
Trim14 |
A |
T |
4: 46,523,711 (GRCm39) |
L109Q |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,815,208 (GRCm39) |
H1602Q |
|
Het |
Zbtb48 |
A |
G |
4: 152,105,744 (GRCm39) |
|
probably null |
Het |
Zranb3 |
T |
C |
1: 127,895,670 (GRCm39) |
E726G |
probably benign |
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 |
R2882:Spata31d1e
|
UTSW |
13 |
59,890,757 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- TGGACTCACTGTGCAGAGAG -3'
(R):5'- AGATCGTCACGCTGGTTCTC -3'
Sequencing Primer
(F):5'- CAGAAGAGCTGGCTGTGTTTC -3'
(R):5'- TCGGCAGGAGAAAGCTTTCCTG -3'
|
Posted On |
2020-09-02 |