Mutagenetix > Incidental Mutation

Incidental Mutation 'R6437:Eif3h'

518834

Institutional Source

Beutler Lab

Gene Symbol

Eif3h

Ensembl Gene

ENSMUSG00000022312

Gene Name

eukaryotic translation initiation factor 3, subunit H

Synonyms

9430017H16Rik, EIF3-gamma, EIF3-P40, 1110008A16Rik, Eif3s3

MMRRC Submission

044575-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51649956-51728901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51662660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 129 (V129I)

Ref Sequence

ENSEMBL: ENSMUSP00000022925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022925]

AlphaFold

Q91WK2

Predicted Effect

probably benign
Transcript: ENSMUST00000022925
AA Change: V129I

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022925
Gene: ENSMUSG00000022312
AA Change: V129I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228625

Meta Mutation Damage Score

0.0840

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,582,347 (GRCm39)	V794E	probably damaging	Het
Agrn	C	T	4: 156,261,235 (GRCm39)	V514I	probably damaging	Het
Atg16l1	T	C	1: 87,718,370 (GRCm39)	L545P	probably damaging	Het
Ces3b	T	A	8: 105,819,238 (GRCm39)	D431E	probably damaging	Het
Cracr2a	A	G	6: 127,608,794 (GRCm39)	D291G	probably damaging	Het
Csmd2	T	G	4: 127,881,893 (GRCm39)	C11G	probably benign	Het
Cstdc3	A	G	16: 36,132,999 (GRCm39)	E92G	probably damaging	Het
Dido1	A	G	2: 180,316,806 (GRCm39)	I127T	probably damaging	Het
Dpp8	A	T	9: 64,981,860 (GRCm39)	Y714F	probably benign	Het
Efcab5	G	A	11: 77,028,728 (GRCm39)	A201V	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fars2	G	A	13: 36,388,846 (GRCm39)	V112I	probably benign	Het
Fbn2	T	G	18: 58,246,435 (GRCm39)	D489A	probably damaging	Het
Frmd4b	G	T	6: 97,273,228 (GRCm39)	S675R	probably damaging	Het
Fsip2	C	T	2: 82,813,836 (GRCm39)	S3385F	possibly damaging	Het
Gtpbp10	A	G	5: 5,607,406 (GRCm39)	Y12H	probably damaging	Het
Kcng3	A	G	17: 83,938,558 (GRCm39)	S164P	probably damaging	Het
Kifap3	T	A	1: 163,685,095 (GRCm39)	L483Q	probably damaging	Het
Klk10	A	G	7: 43,432,241 (GRCm39)	H58R	probably benign	Het
Kntc1	T	G	5: 123,907,754 (GRCm39)	W452G	probably damaging	Het
Krt87	C	T	15: 101,336,273 (GRCm39)	D127N	possibly damaging	Het
Ldaf1	A	T	7: 119,715,584 (GRCm39)		probably null	Het
Lipm	A	G	19: 34,098,657 (GRCm39)	Y377C	probably damaging	Het
Mrc2	G	A	11: 105,240,669 (GRCm39)	R1453H	probably damaging	Het
Nat1	T	C	8: 67,944,388 (GRCm39)	F255L	possibly damaging	Het
Neb	C	T	2: 52,147,569 (GRCm39)		probably null	Het
Nek5	T	A	8: 22,575,476 (GRCm39)	D491V	possibly damaging	Het
Nynrin	T	C	14: 56,109,227 (GRCm39)	S1445P	probably benign	Het
Oog2	T	A	4: 143,921,678 (GRCm39)		probably null	Het
Or2j6	C	T	7: 139,980,434 (GRCm39)	C175Y	probably damaging	Het
Pafah1b1	T	C	11: 74,568,557 (GRCm39)	T391A	probably benign	Het
Pcdhb7	T	C	18: 37,475,743 (GRCm39)	L293P	probably damaging	Het
Plce1	A	T	19: 38,513,576 (GRCm39)	T292S	probably benign	Het
Pold1	G	A	7: 44,188,202 (GRCm39)	R559C	probably damaging	Het
Rfx7	A	G	9: 72,525,768 (GRCm39)	Q986R	possibly damaging	Het
Rrp9	G	T	9: 106,360,150 (GRCm39)	R186L	probably benign	Het
Samm50	T	A	15: 84,088,298 (GRCm39)		probably null	Het
Scoc	T	C	8: 84,164,616 (GRCm39)	D7G	probably benign	Het
Smad9	C	T	3: 54,693,505 (GRCm39)	P145S	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snrk	A	G	9: 121,995,879 (GRCm39)	R553G	probably damaging	Het
Srcap	T	A	7: 127,127,722 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,037,188 (GRCm39)	V3789E	possibly damaging	Het
Thsd7b	T	C	1: 129,744,419 (GRCm39)	I769T	probably damaging	Het
Ttc7	A	G	17: 87,637,534 (GRCm39)	K430E	probably damaging	Het
Ubr4	T	A	4: 139,124,525 (GRCm39)		probably null	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r37	G	T	7: 9,220,850 (GRCm39)	Q338K	probably damaging	Het
Yod1	T	C	1: 130,646,885 (GRCm39)	V254A	probably damaging	Het
Zfpm2	T	C	15: 40,962,793 (GRCm39)	S152P	probably benign	Het
Zmym2	T	A	14: 57,140,461 (GRCm39)	L100H	probably damaging	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
IGL01315:Eif3h	APN	15	51,705,881 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTGTCTAGACTTAGCTGC -3'
(R):5'- GCTAATGTTGGTGGCATCATTAC -3'

Sequencing Primer
(F):5'- TTACTTGAGAAGGCCTGCCAG -3'
(R):5'- CCTCCAGTACAGTATCAGATG -3'

Posted On

2018-05-24