Incidental Mutation 'R9118:Eif4h'
ID |
692637 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif4h
|
Ensembl Gene |
ENSMUSG00000040731 |
Gene Name |
eukaryotic translation initiation factor 4H |
Synonyms |
Wbscr1, D5Ertd355e, E430026L18Rik, Eif4h, Wscr1 |
MMRRC Submission |
068921-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9118 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
134648726-134668263 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 134656481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 70
(V70L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036125]
[ENSMUST00000202622]
|
AlphaFold |
Q9WUK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036125
AA Change: V70L
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000048833 Gene: ENSMUSG00000040731 AA Change: V70L
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
RRM
|
43 |
114 |
1.46e-16 |
SMART |
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
low complexity region
|
164 |
179 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202622
AA Change: V70L
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143910 Gene: ENSMUSG00000040731 AA Change: V70L
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
RRM
|
43 |
114 |
1.46e-16 |
SMART |
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
low complexity region
|
164 |
179 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4286 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (31/32) |
MGI Phenotype |
FUNCTION: This gene encodes eukaryotic translation initiation factor 4H (eIF4H) that plays a critical role in the process of protein synthesis. The encoded protein is an RNA-binding protein that, in concert with other translation initiation factors, helps unwind the 5' cap-proximal region of mRNA to prepare it for ribosomal attachment. Mice lacking the encoded protein displayed growth retardation with a significant reduction of body weight, a smaller brain volume and altered brain morphology. Behaviorally, mice lacking the encoded protein exhibit severe impairments of fear-related associative learning and memory formation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] PHENOTYPE: Mice homozygous for a gene trap allele exhibit growth defects and impaired cognitive behaviors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
A |
T |
9: 118,985,957 (GRCm39) |
S36T |
probably benign |
Het |
Aifm2 |
C |
T |
10: 61,561,681 (GRCm39) |
T9I |
probably benign |
Het |
Ano5 |
T |
A |
7: 51,220,122 (GRCm39) |
F421I |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,262,715 (GRCm39) |
V372M |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,755,853 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,378,906 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,879,925 (GRCm39) |
D421G |
possibly damaging |
Het |
Dgat1 |
A |
T |
15: 76,386,718 (GRCm39) |
W440R |
probably damaging |
Het |
Dnah5 |
TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC |
TGTC |
15: 28,401,994 (GRCm39) |
|
probably null |
Het |
Dnai7 |
A |
G |
6: 145,120,900 (GRCm39) |
Y691H |
probably damaging |
Het |
Dnai7 |
A |
G |
6: 145,120,971 (GRCm39) |
L667P |
probably damaging |
Het |
Gabrd |
C |
A |
4: 155,470,475 (GRCm39) |
V326L |
possibly damaging |
Het |
Krt1c |
C |
T |
15: 101,722,976 (GRCm39) |
E341K |
probably damaging |
Het |
Lrp4 |
C |
T |
2: 91,308,927 (GRCm39) |
A538V |
possibly damaging |
Het |
Mfap3l |
G |
A |
8: 61,109,716 (GRCm39) |
V31M |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,991,573 (GRCm39) |
I1557T |
possibly damaging |
Het |
Or2y16 |
A |
T |
11: 49,335,409 (GRCm39) |
I244F |
probably benign |
Het |
Or5an11 |
T |
C |
19: 12,246,263 (GRCm39) |
V223A |
probably benign |
Het |
Pcyt2 |
G |
A |
11: 120,503,899 (GRCm39) |
P183L |
|
Het |
Rapsn |
A |
G |
2: 90,875,378 (GRCm39) |
H387R |
probably damaging |
Het |
Scaf11 |
G |
A |
15: 96,319,886 (GRCm39) |
A259V |
probably benign |
Het |
Septin9 |
A |
G |
11: 117,157,398 (GRCm39) |
D11G |
probably benign |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
T |
A |
8: 41,351,994 (GRCm39) |
I19N |
possibly damaging |
Het |
Synpr |
T |
C |
14: 13,608,673 (GRCm38) |
V171A |
probably damaging |
Het |
Tmed7 |
T |
C |
18: 46,726,338 (GRCm39) |
N139S |
probably benign |
Het |
Tnks1bp1 |
G |
T |
2: 84,893,720 (GRCm39) |
G1216W |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,386,839 (GRCm39) |
V2338E |
probably damaging |
Het |
Vmn1r152 |
A |
T |
7: 22,222,992 (GRCm39) |
I201F |
|
Het |
Vmn2r106 |
C |
A |
17: 20,505,667 (GRCm39) |
W9L |
probably benign |
Het |
Vmn2r9 |
A |
G |
5: 108,990,937 (GRCm39) |
V808A |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,480,810 (GRCm39) |
T996A |
|
Het |
Zng1 |
T |
C |
19: 24,920,048 (GRCm39) |
R190G |
probably damaging |
Het |
|
Other mutations in Eif4h |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01470:Eif4h
|
APN |
5 |
134,654,393 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02749:Eif4h
|
APN |
5 |
134,668,146 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02800:Eif4h
|
APN |
5 |
134,656,459 (GRCm39) |
missense |
probably benign |
0.08 |
R0184:Eif4h
|
UTSW |
5 |
134,654,229 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1727:Eif4h
|
UTSW |
5 |
134,668,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Eif4h
|
UTSW |
5 |
134,656,531 (GRCm39) |
missense |
probably benign |
0.33 |
R8725:Eif4h
|
UTSW |
5 |
134,654,393 (GRCm39) |
critical splice donor site |
probably null |
|
R8727:Eif4h
|
UTSW |
5 |
134,654,393 (GRCm39) |
critical splice donor site |
probably null |
|
R9676:Eif4h
|
UTSW |
5 |
134,668,242 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAAAATAGTTTCCCCAAGGG -3'
(R):5'- AGGAGCCCTAAACTCTTCTGC -3'
Sequencing Primer
(F):5'- TCCCCAGAGCTGAGTTAAAGG -3'
(R):5'- GGAGCCCTAAACTCTTCTGCATCTC -3'
|
Posted On |
2021-12-30 |