Incidental Mutation 'R2242:Eif1ad'
| ID |
240710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif1ad
|
| Ensembl Gene |
ENSMUSG00000024841 |
| Gene Name |
eukaryotic translation initiation factor 1A domain containing |
| Synonyms |
2010003J03Rik, Eif1ad1 |
| MMRRC Submission |
040242-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2242 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5416841-5421546 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CGAGGAGGAGGAGGAGGAGG to CGAGGAGGAGGAGGAGG
at 5420086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025759]
[ENSMUST00000025762]
[ENSMUST00000170010]
|
| AlphaFold |
Q3THJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025759
|
| SMART Domains |
Protein: ENSMUSP00000025759
Gene: ENSMUSG00000024841
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,837,460 (GRCm39) |
S630T |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,900 (GRCm39) |
I760V |
possibly damaging |
Het |
| Cdc20 |
A |
G |
4: 118,290,722 (GRCm39) |
V426A |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,796,551 (GRCm39) |
S219G |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,490,054 (GRCm39) |
D603E |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,176,687 (GRCm39) |
Y1205C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,037,828 (GRCm39) |
|
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
G |
7: 80,031,473 (GRCm39) |
E467A |
probably damaging |
Het |
| Ftsj3 |
T |
A |
11: 106,141,604 (GRCm39) |
Q548L |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,902,689 (GRCm39) |
C221Y |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 16,106,755 (GRCm39) |
C1856R |
unknown |
Het |
| Mfsd6 |
G |
T |
1: 52,748,757 (GRCm39) |
P36Q |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,855,769 (GRCm39) |
V248A |
probably damaging |
Het |
| Or2n1b |
A |
G |
17: 38,459,613 (GRCm39) |
I45V |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,855,755 (GRCm39) |
E65G |
probably benign |
Het |
| Sardh |
A |
T |
2: 27,125,527 (GRCm39) |
V329E |
possibly damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,315,739 (GRCm39) |
S446P |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,077,498 (GRCm39) |
T223A |
probably benign |
Het |
| Wdr47 |
A |
G |
3: 108,526,431 (GRCm39) |
D318G |
probably damaging |
Het |
| Zic4 |
C |
T |
9: 91,260,706 (GRCm39) |
|
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 |
|
|
R3401:Eif1ad
|
UTSW |
19 |
5,418,276 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- CCCCGGAAGATGTCACCTATTC -3'
(R):5'- ATGAGCTTCCCTCCACAGAGAG -3'
Sequencing Primer
(F):5'- CGGAAGATGTCACCTATTCTTTCC -3'
(R):5'- GTGTAAGTCATCACCCACCAGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation