Incidental Mutation 'R3401:Eif1ad'
| ID |
259207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif1ad
|
| Ensembl Gene |
ENSMUSG00000024841 |
| Gene Name |
eukaryotic translation initiation factor 1A domain containing |
| Synonyms |
2010003J03Rik, Eif1ad1 |
| MMRRC Submission |
040620-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5416841-5421546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5418276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 20
(V20A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025759]
[ENSMUST00000025762]
[ENSMUST00000170010]
|
| AlphaFold |
Q3THJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025759
AA Change: V20A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000025759
Gene: ENSMUSG00000024841
AA Change: V20A
| Domain | Start | End | E-Value | Type |
|---|
|
eIF1a
|
20 |
103 |
1.03e-40 |
SMART |
|
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025762
|
| SMART Domains |
Protein: ENSMUSP00000025762
Gene: ENSMUSG00000024844
| Domain | Start | End | E-Value | Type |
|---|
|
BAF
|
1 |
88 |
3.68e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170010
|
| SMART Domains |
Protein: ENSMUSP00000126202
Gene: ENSMUSG00000024844
| Domain | Start | End | E-Value | Type |
|---|
|
BAF
|
1 |
88 |
3.68e-59 |
SMART |
|
| Meta Mutation Damage Score |
0.0739 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gat1 |
C |
A |
9: 26,667,149 (GRCm39) |
T127K |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,532,512 (GRCm39) |
M747K |
probably benign |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,418,229 (GRCm39) |
V119I |
probably damaging |
Het |
| Fli1 |
G |
A |
9: 32,372,570 (GRCm39) |
S156L |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,635,154 (GRCm39) |
D399E |
probably benign |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Htr2a |
T |
C |
14: 74,882,499 (GRCm39) |
S162P |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,358,411 (GRCm39) |
Q942* |
probably null |
Het |
| Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,628,193 (GRCm39) |
I422M |
possibly damaging |
Het |
| Polr3b |
C |
T |
10: 84,535,355 (GRCm39) |
T888M |
probably damaging |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,705,922 (GRCm39) |
T2323A |
possibly damaging |
Het |
| Sntg2 |
A |
G |
12: 30,338,171 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,170 (GRCm39) |
I3476V |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,873,097 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,901,707 (GRCm39) |
M334T |
probably benign |
Het |
| Uprt |
A |
G |
X: 103,549,864 (GRCm39) |
D310G |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
T |
A |
5: 138,455,273 (GRCm39) |
N490K |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
probably benign |
Het |
|
| Other mutations in Eif1ad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Eif1ad
|
APN |
19 |
5,418,212 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02012:Eif1ad
|
APN |
19 |
5,418,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Eif1ad
|
APN |
19 |
5,418,445 (GRCm39) |
unclassified |
probably benign |
|
|
R0699:Eif1ad
|
UTSW |
19 |
5,418,726 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1238:Eif1ad
|
UTSW |
19 |
5,420,111 (GRCm39) |
makesense |
probably null |
|
|
R1921:Eif1ad
|
UTSW |
19 |
5,420,086 (GRCm39) |
unclassified |
probably benign |
|
|
R2242:Eif1ad
|
UTSW |
19 |
5,420,086 (GRCm39) |
unclassified |
probably benign |
|
|
R4671:Eif1ad
|
UTSW |
19 |
5,418,219 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7667:Eif1ad
|
UTSW |
19 |
5,418,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9010:Eif1ad
|
UTSW |
19 |
5,418,726 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTAACAGGGCGAGGTGGC -3'
(R):5'- TGCAGATTGTTCCCAGGAG -3'
Sequencing Primer
(F):5'- GCACTTTTTCGTATAAGGCTGC -3'
(R):5'- AGCGAGAACTAGCCACTT -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation