Incidental Mutation 'R2967:Eif2s3y'
| ID |
263303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2s3y
|
| Ensembl Gene |
ENSMUSG00000069049 |
| Gene Name |
eukaryotic translation initiation factor 2, subunit 3, structural gene Y-linked |
| Synonyms |
Spy, Eif-2gy, Tfy |
| MMRRC Submission |
040523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.040)
|
| Stock # |
R2967 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
Y |
| Chromosomal Location |
1010543-1028847 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 1020030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 353
(M353L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091197]
|
| AlphaFold |
Q9Z0N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091197
AA Change: M353L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088736
Gene: ENSMUSG00000069049
AA Change: M353L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
39 |
245 |
1.9e-23 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
276 |
359 |
2.1e-13 |
PFAM |
|
Pfam:eIF2_C
|
369 |
459 |
1.4e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148961
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Hemizygous knockout leads to male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,304,131 (GRCm39) |
S185G |
possibly damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,601 (GRCm39) |
E410K |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,361,993 (GRCm39) |
N733I |
probably damaging |
Het |
| Bola3 |
T |
A |
6: 83,326,280 (GRCm39) |
Y24N |
probably benign |
Het |
| Cntn6 |
G |
A |
6: 104,703,198 (GRCm39) |
V135I |
probably benign |
Het |
| Ercc8 |
C |
A |
13: 108,297,248 (GRCm39) |
P53T |
probably damaging |
Het |
| Gan |
A |
G |
8: 117,910,265 (GRCm39) |
K65E |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,792,339 (GRCm39) |
E597G |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,773,909 (GRCm39) |
H81L |
probably benign |
Het |
| Hs2st1 |
T |
A |
3: 144,170,899 (GRCm39) |
N91I |
probably damaging |
Het |
| Or1e31 |
A |
G |
11: 73,689,933 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,887 (GRCm39) |
I86F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,901,819 (GRCm39) |
S451P |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,686 (GRCm39) |
R394S |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,018,532 (GRCm39) |
L84S |
possibly damaging |
Het |
| Rab1a |
T |
A |
11: 20,173,068 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
T |
C |
13: 51,824,915 (GRCm39) |
S388P |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,609,752 (GRCm39) |
K172R |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,219,339 (GRCm39) |
A1197V |
probably benign |
Het |
| Ttf1 |
T |
A |
2: 28,955,395 (GRCm39) |
V253D |
possibly damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,488 (GRCm39) |
V160E |
probably damaging |
Het |
| Vmn1r81 |
G |
T |
7: 11,993,964 (GRCm39) |
Q215K |
probably damaging |
Het |
| Zfp653 |
A |
G |
9: 21,977,026 (GRCm39) |
L147P |
probably damaging |
Het |
|
| Other mutations in Eif2s3y |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4354001:Eif2s3y
|
UTSW |
Y |
1,020,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1778:Eif2s3y
|
UTSW |
Y |
1,011,287 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3941:Eif2s3y
|
UTSW |
Y |
1,012,079 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4956:Eif2s3y
|
UTSW |
Y |
1,023,407 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5457:Eif2s3y
|
UTSW |
Y |
1,016,057 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5572:Eif2s3y
|
UTSW |
Y |
1,016,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5913:Eif2s3y
|
UTSW |
Y |
1,017,365 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCAAATGAGTTAGTTTTAGAGATCT -3'
(R):5'- CACTCACATGACATTTTACAAAACAT -3'
Sequencing Primer
(F):5'- GTTTTAGAGATCTTTGGAGATATTAG -3'
(R):5'- AAGGTCCTGAGTTCAATTCCCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation