Incidental Mutation 'IGL01315:Eif3h'
ID |
73822 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif3h
|
Ensembl Gene |
ENSMUSG00000022312 |
Gene Name |
eukaryotic translation initiation factor 3, subunit H |
Synonyms |
9430017H16Rik, EIF3-gamma, EIF3-P40, 1110008A16Rik, Eif3s3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01315
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
51649956-51728901 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51705881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 91
(D91G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022925
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022925]
|
AlphaFold |
Q91WK2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022925
AA Change: D91G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022925 Gene: ENSMUSG00000022312 AA Change: D91G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
32 |
N/A |
INTRINSIC |
JAB_MPN
|
38 |
172 |
2.56e-43 |
SMART |
low complexity region
|
270 |
291 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228583
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. Heterozygous mice exhibit enhanced variegation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
T |
C |
5: 31,050,578 (GRCm39) |
S409P |
probably benign |
Het |
Ankdd1a |
T |
A |
9: 65,415,984 (GRCm39) |
H187L |
probably damaging |
Het |
Ap2a1 |
A |
T |
7: 44,565,713 (GRCm39) |
D51E |
possibly damaging |
Het |
Ccn3 |
T |
C |
15: 54,612,656 (GRCm39) |
S222P |
probably damaging |
Het |
Cog5 |
T |
A |
12: 31,810,985 (GRCm39) |
|
probably benign |
Het |
Ell2 |
A |
G |
13: 75,910,351 (GRCm39) |
|
probably benign |
Het |
Epha4 |
A |
G |
1: 77,375,194 (GRCm39) |
V551A |
probably benign |
Het |
Gpc2 |
A |
G |
5: 138,274,301 (GRCm39) |
S354P |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,841,993 (GRCm39) |
F140L |
probably damaging |
Het |
Hnmt |
A |
G |
2: 23,909,180 (GRCm39) |
Y78H |
probably benign |
Het |
Ighe |
T |
A |
12: 113,234,972 (GRCm39) |
H396L |
unknown |
Het |
Krt87 |
A |
G |
15: 101,384,848 (GRCm39) |
|
probably benign |
Het |
Mgat5b |
T |
C |
11: 116,814,215 (GRCm39) |
S40P |
probably damaging |
Het |
Mov10 |
A |
G |
3: 104,703,261 (GRCm39) |
V876A |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,320,500 (GRCm39) |
V2031A |
probably damaging |
Het |
Ntm |
T |
A |
9: 28,925,480 (GRCm39) |
S26C |
probably damaging |
Het |
Pcsk5 |
G |
A |
19: 17,429,322 (GRCm39) |
T1552I |
probably damaging |
Het |
Pex1 |
A |
T |
5: 3,659,975 (GRCm39) |
D453V |
probably damaging |
Het |
Pkd2l1 |
C |
T |
19: 44,180,635 (GRCm39) |
D27N |
probably benign |
Het |
Plppr5 |
G |
T |
3: 117,456,175 (GRCm39) |
C232F |
probably damaging |
Het |
Slc39a2 |
G |
T |
14: 52,132,593 (GRCm39) |
E179* |
probably null |
Het |
Slc8a3 |
A |
G |
12: 81,361,169 (GRCm39) |
V550A |
probably damaging |
Het |
Smc5 |
T |
A |
19: 23,208,968 (GRCm39) |
T626S |
probably benign |
Het |
Tars1 |
A |
C |
15: 11,389,820 (GRCm39) |
Y363* |
probably null |
Het |
Unc79 |
T |
C |
12: 103,054,780 (GRCm39) |
I906T |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,365,811 (GRCm39) |
P2222S |
possibly damaging |
Het |
Wdr31 |
A |
C |
4: 62,374,074 (GRCm39) |
V306G |
probably damaging |
Het |
Zdhhc1 |
C |
A |
8: 106,199,630 (GRCm39) |
R389S |
probably benign |
Het |
|
Other mutations in Eif3h |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Eif3h
|
APN |
15 |
51,650,195 (GRCm39) |
missense |
probably damaging |
0.96 |
R0389:Eif3h
|
UTSW |
15 |
51,662,660 (GRCm39) |
missense |
probably damaging |
0.98 |
R1832:Eif3h
|
UTSW |
15 |
51,728,832 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1847:Eif3h
|
UTSW |
15 |
51,661,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R1857:Eif3h
|
UTSW |
15 |
51,662,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R4193:Eif3h
|
UTSW |
15 |
51,662,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R6002:Eif3h
|
UTSW |
15 |
51,662,672 (GRCm39) |
missense |
probably benign |
0.02 |
R6437:Eif3h
|
UTSW |
15 |
51,662,660 (GRCm39) |
missense |
probably benign |
0.08 |
R6844:Eif3h
|
UTSW |
15 |
51,728,729 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7276:Eif3h
|
UTSW |
15 |
51,728,717 (GRCm39) |
splice site |
probably null |
|
R7726:Eif3h
|
UTSW |
15 |
51,650,219 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1177:Eif3h
|
UTSW |
15 |
51,728,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |