Incidental Mutation 'R8382:Spata31e3'
| ID |
646989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e3
|
| Ensembl Gene |
ENSMUSG00000095300 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 3 |
| Synonyms |
LOC380882, Gm906 |
| MMRRC Submission |
067896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8382 (G1)
|
| Quality Score |
148.008 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
50399217-50404344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50401474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 284
(K284R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099521]
|
| AlphaFold |
Q3V0M1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099521
AA Change: K284R
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097121
Gene: ENSMUSG00000095300
AA Change: K284R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
82 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
96 |
414 |
5.3e-15 |
PFAM |
|
SCOP:d1i5pa1
|
811 |
874 |
1e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| Validation Efficiency |
94% (33/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,537,645 (GRCm39) |
R689G |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,016,277 (GRCm39) |
|
probably null |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Cacna1i |
G |
A |
15: 80,261,017 (GRCm39) |
V1342M |
probably damaging |
Het |
| Cblif |
A |
T |
19: 11,727,090 (GRCm39) |
T100S |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,890,018 (GRCm39) |
D170G |
possibly damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,151 (GRCm39) |
V541A |
probably benign |
Het |
| Depdc5 |
C |
T |
5: 33,085,242 (GRCm39) |
T687M |
probably benign |
Het |
| Ear6 |
T |
C |
14: 52,091,570 (GRCm39) |
I39T |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,816,762 (GRCm39) |
A2408V |
probably benign |
Het |
| Frmd4b |
G |
A |
6: 97,282,209 (GRCm39) |
T539I |
probably benign |
Het |
| Gm19410 |
T |
A |
8: 36,276,302 (GRCm39) |
V1653D |
probably damaging |
Het |
| Jade1 |
A |
G |
3: 41,519,369 (GRCm39) |
|
probably null |
Het |
| Kncn |
A |
G |
4: 115,743,947 (GRCm39) |
N75S |
probably benign |
Het |
| Lig4 |
C |
T |
8: 10,022,346 (GRCm39) |
G478D |
probably damaging |
Het |
| Med24 |
G |
A |
11: 98,608,537 (GRCm39) |
T205I |
unknown |
Het |
| Meiob |
A |
G |
17: 25,046,913 (GRCm39) |
E179G |
possibly damaging |
Het |
| Nalf1 |
T |
C |
8: 9,257,972 (GRCm39) |
E392G |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,455 (GRCm39) |
V204A |
probably benign |
Het |
| Or4a27 |
A |
T |
2: 88,559,857 (GRCm39) |
F29I |
probably damaging |
Het |
| Or8b44 |
A |
T |
9: 38,410,588 (GRCm39) |
I208F |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,727,080 (GRCm39) |
D1979E |
unknown |
Het |
| Plxnd1 |
A |
T |
6: 115,949,433 (GRCm39) |
H784Q |
probably benign |
Het |
| Prim1 |
A |
T |
10: 127,856,138 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,612,691 (GRCm39) |
I371N |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,224,671 (GRCm39) |
S288L |
possibly damaging |
Het |
| Taf1c |
G |
T |
8: 120,329,789 (GRCm39) |
D117E |
probably damaging |
Het |
| Tekt5 |
T |
C |
16: 10,212,928 (GRCm39) |
D119G |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,705,867 (GRCm39) |
I508T |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,279,196 (GRCm39) |
I673T |
probably benign |
Het |
| Vmn2r17 |
G |
T |
5: 109,576,387 (GRCm39) |
M419I |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,153,054 (GRCm39) |
Q562* |
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,650,328 (GRCm39) |
D885E |
probably benign |
Het |
|
| Other mutations in Spata31e3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00575:Spata31e3
|
APN |
13 |
50,400,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Spata31e3
|
APN |
13 |
50,400,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0464:Spata31e3
|
UTSW |
13 |
50,402,311 (GRCm39) |
splice site |
probably benign |
|
|
R0481:Spata31e3
|
UTSW |
13 |
50,401,000 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0781:Spata31e3
|
UTSW |
13 |
50,402,296 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1110:Spata31e3
|
UTSW |
13 |
50,402,296 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1945:Spata31e3
|
UTSW |
13 |
50,399,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3119:Spata31e3
|
UTSW |
13 |
50,401,005 (GRCm39) |
nonsense |
probably null |
|
|
R3824:Spata31e3
|
UTSW |
13 |
50,399,548 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3861:Spata31e3
|
UTSW |
13 |
50,400,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4256:Spata31e3
|
UTSW |
13 |
50,404,141 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4607:Spata31e3
|
UTSW |
13 |
50,399,542 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6126:Spata31e3
|
UTSW |
13 |
50,400,326 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6550:Spata31e3
|
UTSW |
13 |
50,399,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6913:Spata31e3
|
UTSW |
13 |
50,399,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6970:Spata31e3
|
UTSW |
13 |
50,401,007 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7339:Spata31e3
|
UTSW |
13 |
50,401,204 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7347:Spata31e3
|
UTSW |
13 |
50,399,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7607:Spata31e3
|
UTSW |
13 |
50,404,296 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7655:Spata31e3
|
UTSW |
13 |
50,401,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7656:Spata31e3
|
UTSW |
13 |
50,401,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7711:Spata31e3
|
UTSW |
13 |
50,401,131 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7803:Spata31e3
|
UTSW |
13 |
50,400,226 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8510:Spata31e3
|
UTSW |
13 |
50,404,228 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9006:Spata31e3
|
UTSW |
13 |
50,401,589 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9013:Spata31e3
|
UTSW |
13 |
50,401,588 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9172:Spata31e3
|
UTSW |
13 |
50,401,417 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9452:Spata31e3
|
UTSW |
13 |
50,400,808 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9721:Spata31e3
|
UTSW |
13 |
50,400,688 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGTCCTTCTTGATGGTG -3'
(R):5'- AAGCCTGCCTGGGAAACATG -3'
Sequencing Primer
(F):5'- TGTAGGCACAGACCCCTTC -3'
(R):5'- GCCTGGGAAACATGGACCATATTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation