Incidental Mutation 'R3119:Spata31e3'
| ID |
263156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e3
|
| Ensembl Gene |
ENSMUSG00000095300 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 3 |
| Synonyms |
LOC380882, Gm906 |
| MMRRC Submission |
040592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R3119 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
50399217-50404344 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 50401005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 440
(Y440*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099521]
|
| AlphaFold |
Q3V0M1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099521
AA Change: Y440*
|
| SMART Domains |
Protein: ENSMUSP00000097121
Gene: ENSMUSG00000095300
AA Change: Y440*
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
G |
1: 172,067,393 (GRCm39) |
F580L |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,504,656 (GRCm39) |
T532A |
probably benign |
Het |
| Cstf1 |
A |
G |
2: 172,214,990 (GRCm39) |
E37G |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,362,973 (GRCm39) |
F1679L |
possibly damaging |
Het |
| Dqx1 |
C |
A |
6: 83,043,216 (GRCm39) |
S651* |
probably null |
Het |
| Fhad1 |
CG |
C |
4: 141,645,618 (GRCm39) |
|
probably null |
Het |
| Gata3 |
T |
C |
2: 9,882,396 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
A |
17: 68,732,669 (GRCm39) |
E50K |
probably benign |
Het |
| Man1a |
T |
A |
10: 53,906,890 (GRCm39) |
M295L |
probably damaging |
Het |
| Mbip |
A |
G |
12: 56,392,488 (GRCm39) |
V33A |
probably benign |
Het |
| Mrpl9 |
A |
T |
3: 94,355,097 (GRCm39) |
N223I |
probably damaging |
Het |
| Nrxn1 |
G |
A |
17: 90,904,947 (GRCm39) |
Q219* |
probably null |
Het |
| Or8g51 |
T |
A |
9: 38,608,955 (GRCm39) |
K236* |
probably null |
Het |
| Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
| Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,956,058 (GRCm39) |
M588K |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,560,184 (GRCm39) |
M369T |
possibly damaging |
Het |
| Vwa3b |
G |
A |
1: 37,148,158 (GRCm39) |
V437I |
possibly damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,688 (GRCm39) |
H217R |
possibly damaging |
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 |
|
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 |
|
R8382:Spata31e3
|
UTSW |
13 |
50,401,474 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- GCCTCTGGAAGTGAGTGTATAAAC -3'
(R):5'- TCAAGAAGGACCTTGGTGTG -3'
Sequencing Primer
(F):5'- GAGTGTATAAACTCAGCTCTCTCTGG -3'
(R):5'- CTTGGTGTGGGGGCACAAAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation