Mutagenetix > Incidental Mutation

Incidental Mutation 'R6844:Eif3h'

534687

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

044950-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6844 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51649956-51728901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51728729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 42 (D42G)

Ref Sequence

ENSEMBL: ENSMUSP00000022925 (fasta)

Gene Model

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

AlphaFold

Q91WK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022925
AA Change: D42G

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022925
Gene: ENSMUSG00000022312
AA Change: D42G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

92% (36/39)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap18	G	A	10: 26,648,682 (GRCm39)	A35T	probably benign	Het
Arhgap21	A	G	2: 20,886,116 (GRCm39)	S354P	probably benign	Het
Casq2	A	T	3: 102,017,578 (GRCm39)	H86L	possibly damaging	Het
Ccdc188	G	A	16: 18,036,074 (GRCm39)	G83E	probably damaging	Het
Cd22	G	T	7: 30,572,856 (GRCm39)		probably null	Het
Cyp2b13	T	A	7: 25,781,122 (GRCm39)	I178N	probably damaging	Het
Cyp4a31	T	A	4: 115,420,989 (GRCm39)	C26S	probably null	Het
Elovl4	T	A	9: 83,672,164 (GRCm39)	I52L	probably benign	Het
Fgfbp3	C	A	19: 36,896,280 (GRCm39)	A113S	possibly damaging	Het
Fsip2	A	T	2: 82,813,969 (GRCm39)	K3429N	possibly damaging	Het
Gemin5	T	C	11: 58,054,730 (GRCm39)	D224G	probably benign	Het
Gm3415	T	C	5: 146,494,811 (GRCm39)	I158T	probably benign	Het
Gpr22	C	A	12: 31,759,951 (GRCm39)	R20L	probably benign	Het
Htr1a	A	G	13: 105,581,455 (GRCm39)	K232E	possibly damaging	Het
Itgax	T	A	7: 127,747,106 (GRCm39)		probably null	Het
Jag2	T	C	12: 112,880,334 (GRCm39)	Y310C	probably damaging	Het
Lce1j	A	G	3: 92,696,656 (GRCm39)	S41P	unknown	Het
Mllt10	A	G	2: 18,164,294 (GRCm39)	I197V	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mybpc1	T	A	10: 88,372,243 (GRCm39)	I796F	possibly damaging	Het
Nr2c1	T	A	10: 94,007,029 (GRCm39)	L289*	probably null	Het
Omp	T	A	7: 97,794,283 (GRCm39)	M115L	probably benign	Het
Pdcd1	C	T	1: 93,967,106 (GRCm39)	R264H	probably benign	Het
Plxna2	T	C	1: 194,476,136 (GRCm39)	F1119L	probably benign	Het
Ralyl	A	G	3: 13,841,938 (GRCm39)	T25A	probably damaging	Het
Rapgef4	A	G	2: 72,064,970 (GRCm39)	T656A	probably damaging	Het
Ripor3	C	T	2: 167,835,253 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,205 (GRCm39)	S54P	probably damaging	Het
Serpinb9g	A	T	13: 33,670,616 (GRCm39)	I35F	probably damaging	Het
Shisa8	T	C	15: 82,096,310 (GRCm39)	S102G	probably damaging	Het
Slc4a1ap	T	A	5: 31,684,822 (GRCm39)	S153T	probably damaging	Het
Slc4a4	T	A	5: 89,376,831 (GRCm39)	D1028E	probably damaging	Het
Slc6a13	T	A	6: 121,302,012 (GRCm39)	I198N	probably damaging	Het
Sst	C	T	16: 23,708,592 (GRCm39)	D80N	probably benign	Het
Synj2	A	G	17: 6,026,081 (GRCm39)	K47E	probably damaging	Het
Tal1	C	T	4: 114,920,464 (GRCm39)	P46L	probably benign	Het
Top2b	A	T	14: 16,429,383 (GRCm38)	N1541I	possibly damaging	Het
Vps13b	T	A	15: 35,877,736 (GRCm39)	N2903K	probably benign	Het
Zfp949	A	G	9: 88,451,464 (GRCm39)	T345A	possibly damaging	Het
Zmat3	A	G	3: 32,395,644 (GRCm39)	Y288H	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
R6437:Eif3h	UTSW	15	51,662,660 (GRCm39)	missense	probably benign	0.08
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'- CGTTTCTCAGCACTCAGGTC -3'
(R):5'- GCCTTAACATAGCGTCACGG -3'

Sequencing Primer
(F):5'- TCAGGTCTCTCGTCGGAAAACAG -3'
(R):5'- TTAACATAGCGTCACGGAGCCTC -3'

Posted On

2018-09-12