Mutagenetix > Incidental Mutation

Incidental Mutation 'R4641:Eif1ad3'

351655

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad3

Ensembl Gene

ENSMUSG00000072905

Gene Name

eukaryotic translation initiation factor 1A domain containing 3

Synonyms

Gm2016

MMRRC Submission

041903-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

R4641 (G1)

Quality Score

163

Status

Not validated

Chromosome

Chromosomal Location

87840842-87844629 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87843446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 31 (Y31C)

Ref Sequence

ENSEMBL: ENSMUSP00000105774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110147]

AlphaFold

Q3TQZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110147
AA Change: Y31C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105774
Gene: ENSMUSG00000072905
AA Change: Y31C

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF1a	28	110	2.58e-46	SMART
low complexity region	125	144	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	A	10: 79,841,615 (GRCm39)		probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Dsg3	T	A	18: 20,653,615 (GRCm39)	F54I	probably benign	Het
Ehbp1	G	A	11: 22,045,892 (GRCm39)	S619L	probably benign	Het
Eif1ad5	A	G	12: 87,946,852 (GRCm39)	D98G	probably benign	Het
Erlec1	G	A	11: 30,898,442 (GRCm39)	Q10*	probably null	Het
Fbxw14	A	G	9: 109,107,750 (GRCm39)		probably null	Het
Fhod1	C	T	8: 106,056,224 (GRCm39)	R1163H	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm4846	G	A	1: 166,311,462 (GRCm39)	P466S	probably damaging	Het
Ift122	A	T	6: 115,865,726 (GRCm39)	K339*	probably null	Het
Il6st	T	C	13: 112,625,064 (GRCm39)	S227P	probably damaging	Het
Letmd1	A	G	15: 100,375,708 (GRCm39)	Y198C	probably damaging	Het
Map3k4	A	T	17: 12,482,932 (GRCm39)	L595Q	probably damaging	Het
Mdc1	C	G	17: 36,168,361 (GRCm39)	R1656G	probably benign	Het
Megf11	C	T	9: 64,597,407 (GRCm39)	S662L	possibly damaging	Het
Mrps25	T	C	6: 92,160,881 (GRCm39)	E25G	probably benign	Het
Myh2	G	T	11: 67,085,520 (GRCm39)	G1815C	probably damaging	Het
Myo15a	A	G	11: 60,393,867 (GRCm39)	D2353G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
P2rx5	A	T	11: 73,058,390 (GRCm39)	H275L	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Rnf123	T	C	9: 107,935,786 (GRCm39)	D920G	probably damaging	Het
Slc44a2	A	G	9: 21,258,178 (GRCm39)	Y474C	probably damaging	Het
Slc9a4	T	A	1: 40,646,285 (GRCm39)	F439I	probably damaging	Het
Snap91	A	G	9: 86,761,528 (GRCm39)	V26A	probably damaging	Het
Spata31d1c	C	A	13: 65,182,862 (GRCm39)	Q135K	probably benign	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 98,110,114 (GRCm39)		probably benign	Het
Tlk2	T	C	11: 105,166,809 (GRCm39)	I669T	probably benign	Het
Tmem273	A	G	14: 32,528,839 (GRCm39)	D68G	probably damaging	Het
Ttc38	T	C	15: 85,728,659 (GRCm39)	S204P	possibly damaging	Het
Ttn	T	A	2: 76,617,155 (GRCm39)	Y16403F	probably damaging	Het
Ttyh2	G	T	11: 114,592,609 (GRCm39)	W213L	probably damaging	Het
Ugt2a2	A	T	5: 87,610,755 (GRCm39)	D360E	probably damaging	Het
Vwa5b2	A	T	16: 20,423,393 (GRCm39)	H1102L	probably damaging	Het
Zbtb41	A	T	1: 139,370,557 (GRCm39)	T665S	probably damaging	Het
Zfp292	T	C	4: 34,807,828 (GRCm39)	I1739V	probably damaging	Het

Other mutations in Eif1ad3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01760:Eif1ad3	APN	12	87,843,791 (GRCm39)	utr 3 prime	probably benign
R1567:Eif1ad3	UTSW	12	87,843,754 (GRCm39)	missense	unknown
R4077:Eif1ad3	UTSW	12	87,843,710 (GRCm39)	missense	possibly damaging	0.94
R4077:Eif1ad3	UTSW	12	87,843,401 (GRCm39)	missense	unknown
R4078:Eif1ad3	UTSW	12	87,843,401 (GRCm39)	missense	unknown
R6358:Eif1ad3	UTSW	12	87,843,770 (GRCm39)	missense	unknown
R7852:Eif1ad3	UTSW	12	87,843,742 (GRCm39)	missense	unknown
R8313:Eif1ad3	UTSW	12	87,843,764 (GRCm39)	missense	unknown
Z1088:Eif1ad3	UTSW	12	87,843,704 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- ATAGTAGCTCTTGGAACTGAGTC -3'
(R):5'- GGAAGTTCTCCATAGGCCTTCAG -3'

Sequencing Primer
(F):5'- TGAGTCACAGCCACTGTCTG -3'
(R):5'- AAGTTCTCCATAGGCCTTCAGACTTC -3'

Posted On

2015-10-08