Mutagenetix > Incidental Mutation

Incidental Mutation 'R1727:Eif4h'

198222

Institutional Source

Beutler Lab

Gene Symbol

Eif4h

Ensembl Gene

ENSMUSG00000040731

Gene Name

eukaryotic translation initiation factor 4H

Synonyms

Eif4h, Wbscr1, E430026L18Rik, D5Ertd355e, Wscr1

MMRRC Submission

039759-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1727 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

134619721-134639490 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134639280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 7 (Y7C)

Ref Sequence

ENSEMBL: ENSMUSP00000143910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036125] [ENSMUST00000202622]

AlphaFold

Q9WUK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036125
AA Change: Y7C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048833
Gene: ENSMUSG00000040731
AA Change: Y7C

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

noncoding transcript
Transcript: ENSMUST00000200874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202289

Predicted Effect

probably damaging
Transcript: ENSMUST00000202622
AA Change: Y7C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143910
Gene: ENSMUSG00000040731
AA Change: Y7C

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

96% (98/102)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,428,964		probably benign	Het
Ak2	C	T	4: 129,007,763	P159L	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Akr1a1	A	G	4: 116,641,051	L99P	probably damaging	Het
Anxa8	T	A	14: 34,089,590	M34K	probably damaging	Het
Axl	T	G	7: 25,760,766	D767A	possibly damaging	Het
B430305J03Rik	A	G	3: 61,363,878		probably benign	Het
Cdh24	A	T	14: 54,638,638	Y182*	probably null	Het
Cdk5rap2	T	C	4: 70,272,679	D1043G	probably benign	Het
Cdk5rap2	A	T	4: 70,289,972	S746T	possibly damaging	Het
Cep120	T	C	18: 53,727,729	M210V	probably benign	Het
Chga	C	T	12: 102,561,437	H117Y	possibly damaging	Het
Cnga4	T	C	7: 105,405,754	W79R	probably damaging	Het
Cntnap5b	C	T	1: 100,213,744	T575I	possibly damaging	Het
Col6a3	T	A	1: 90,796,574		probably null	Het
Copz2	T	C	11: 96,853,475	V71A	probably benign	Het
Dennd3	G	T	15: 73,565,128	R1068L	possibly damaging	Het
Dhrs7	T	C	12: 72,659,464	T56A	probably damaging	Het
Dnah17	G	A	11: 118,070,489	T2557I	probably damaging	Het
Dnah17	A	T	11: 118,096,536	L1320*	probably null	Het
Eif3b	T	C	5: 140,425,322	I176T	probably damaging	Het
Eif4b	T	A	15: 102,090,062	D392E	possibly damaging	Het
Enam	A	T	5: 88,503,994	S1046C	probably damaging	Het
Epg5	T	A	18: 78,015,815	V1928E	possibly damaging	Het
Erbin	T	A	13: 103,827,968	E1222V	probably benign	Het
Fam160b2	C	A	14: 70,593,998	G32V	probably damaging	Het
Fhdc1	T	A	3: 84,446,176	I581F	possibly damaging	Het
Fstl4	A	C	11: 53,068,651	Q173P	probably damaging	Het
Gm266	A	G	12: 111,485,479	F98L	possibly damaging	Het
Gsdmc2	T	C	15: 63,849,779		probably benign	Het
Gtf2h3	A	G	5: 124,590,356	Q156R	probably benign	Het
H2-T23	T	C	17: 36,031,653	T198A	possibly damaging	Het
Il1r1	C	A	1: 40,293,264	A68E	probably benign	Het
Kcna7	A	T	7: 45,409,506	I406F	possibly damaging	Het
Lbr	A	G	1: 181,819,916	I432T	probably benign	Het
Lnx1	A	T	5: 74,607,916		probably null	Het
Lrrcc1	T	A	3: 14,537,363	I50N	probably damaging	Het
Lss	T	C	10: 76,539,844	V237A	possibly damaging	Het
Mcm10	A	G	2: 5,006,525	F212L	probably benign	Het
Methig1	A	C	15: 100,353,249	I14L	probably benign	Het
Mrpl41	A	T	2: 24,974,624	V55E	probably damaging	Het
Mtfp1	C	A	11: 4,093,982	D83Y	probably damaging	Het
Myh1	T	A	11: 67,210,466		probably benign	Het
Myo1e	T	C	9: 70,376,524	F834S	possibly damaging	Het
Ndufs7	A	T	10: 80,256,019		probably benign	Het
Nlrp4e	T	A	7: 23,320,995	N302K	probably benign	Het
Nt5e	T	A	9: 88,328,029	M115K	possibly damaging	Het
Nup153	A	T	13: 46,693,785	C723S	probably damaging	Het
Obox6	G	A	7: 15,834,577	P125S	probably benign	Het
Olfr1104	A	G	2: 87,022,263	F94L	probably damaging	Het
Olfr235	T	G	19: 12,269,001	I257S	possibly damaging	Het
Olfr330	A	T	11: 58,529,516	S157T	possibly damaging	Het
Olfr354	G	A	2: 36,907,393	C149Y	probably benign	Het
Olfr665	C	T	7: 104,881,514	T269I	probably benign	Het
Pcdh1	A	C	18: 38,203,032	Y44*	probably null	Het
Pcdhb6	A	T	18: 37,334,587	D187V	probably damaging	Het
Pclo	A	G	5: 14,676,987		probably benign	Het
Pdcl3	T	A	1: 38,995,755	I80K	possibly damaging	Het
Pde12	A	T	14: 26,668,867	V229E	probably benign	Het
Plcg1	A	G	2: 160,748,088	E142G	probably benign	Het
Plxnb1	A	G	9: 109,101,057		probably null	Het
Pnpla1	A	G	17: 28,878,534	I225V	probably benign	Het
Polr2f	A	G	15: 79,144,605		probably benign	Het
Prob1	A	G	18: 35,654,311	S297P	possibly damaging	Het
Qsox2	A	C	2: 26,220,958	S132A	probably benign	Het
Rab19	T	A	6: 39,388,161	Y118*	probably null	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rptn	T	C	3: 93,397,138	S593P	possibly damaging	Het
Sept11	T	C	5: 93,156,924	I200T	probably damaging	Het
Slc10a4	T	A	5: 73,016,148		probably benign	Het
Slc9c1	A	T	16: 45,601,961	I1130F	probably benign	Het
Slit3	C	T	11: 35,629,832	R599C	probably damaging	Het
Snx19	C	T	9: 30,433,366	P622L	probably damaging	Het
Sspo	T	C	6: 48,494,848	L50P	probably damaging	Het
St8sia1	A	T	6: 142,876,727	C137S	probably damaging	Het
Syt11	G	C	3: 88,761,952	T211S	possibly damaging	Het
Tanc1	A	C	2: 59,790,809	Y324S	probably damaging	Het
Tas2r136	T	C	6: 132,777,790	I125V	possibly damaging	Het
Tbc1d15	A	T	10: 115,210,225	W458R	probably damaging	Het
Tctex1d2	T	A	16: 32,422,933	M78K	probably benign	Het
Tecta	G	T	9: 42,359,301	T1237N	probably damaging	Het
Tet2	T	A	3: 133,487,290	D461V	probably damaging	Het
Tmco3	G	A	8: 13,318,866	V573M	possibly damaging	Het
Tmem212	A	T	3: 27,884,812	M175K	probably benign	Het
Traf6	A	G	2: 101,696,739	H278R	probably benign	Het
Trerf1	T	A	17: 47,341,166		noncoding transcript	Het
Ttn	A	C	2: 76,746,644	V24635G	probably damaging	Het
Ush1c	A	T	7: 46,209,231	D544E	probably damaging	Het
Usp47	C	T	7: 112,086,100	T586M	probably damaging	Het
Vmn2r1	T	A	3: 64,081,742	M34K	probably benign	Het
Vmn2r102	T	A	17: 19,677,508	W262R	probably damaging	Het
Wasf3	C	T	5: 146,466,959	A293V	probably benign	Het
Xrn2	A	G	2: 147,061,516	Q812R	probably benign	Het
Zc3h7b	T	C	15: 81,768,029	I10T	probably damaging	Het
Zfp747	A	T	7: 127,374,077	L307Q	probably damaging	Het
Zfp777	A	T	6: 48,043,890	F266Y	probably damaging	Het

Other mutations in Eif4h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Eif4h	APN	5	134625539	critical splice donor site	probably null
IGL02749:Eif4h	APN	5	134639292	missense	probably damaging	1.00
IGL02800:Eif4h	APN	5	134627605	missense	probably benign	0.08
R0184:Eif4h	UTSW	5	134625375	missense	possibly damaging	0.88
R2005:Eif4h	UTSW	5	134627677	missense	probably benign	0.33
R8725:Eif4h	UTSW	5	134625539	critical splice donor site	probably null
R8727:Eif4h	UTSW	5	134625539	critical splice donor site	probably null
R9118:Eif4h	UTSW	5	134627627	missense	probably benign	0.24
R9676:Eif4h	UTSW	5	134639388	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGATCTAACTTTCCGACCGAGGC -3'
(R):5'- TGCAGGGTGACAGACAACGC -3'

Sequencing Primer
(F):5'- AGCCTAACCGTCGCCAG -3'
(R):5'- TGACAGACAACGCCCGAG -3'

Posted On

2014-05-23