Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01079:Eif1ad13'

52430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif1ad13

Ensembl Gene

ENSMUSG00000113201

Gene Name

eukaryotic translation initiation factor 1A domain containing 13

Synonyms

Gm21936

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01079

Quality Score

Status

Chromosome

Chromosomal Location

87762282-87762716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87762578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 99 (E99D)

Ref Sequence

ENSEMBL: ENSMUSP00000152437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000221442]

AlphaFold

A0A1Y7VJE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181313
AA Change: E99D

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137889
Gene: ENSMUSG00000097581
AA Change: E99D

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF1a	28	110	1.11e-45	SMART
low complexity region	122	144	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220970

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221442
AA Change: E99D

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d1	T	A	5: 16,575,646 (GRCm39)	S1079T	probably benign	Het
Cstb	T	C	10: 78,262,779 (GRCm39)	S29P	probably benign	Het
F8	T	A	X: 74,330,224 (GRCm39)	D1222V	probably damaging	Het
Fcgbpl1	A	T	7: 27,839,203 (GRCm39)	S339C	probably damaging	Het
Gal3st1	A	G	11: 3,948,564 (GRCm39)	E257G	probably damaging	Het
Gm5424	T	C	10: 61,907,863 (GRCm39)		noncoding transcript	Het
Ikbke	A	T	1: 131,193,384 (GRCm39)	D515E	possibly damaging	Het
Irag1	C	T	7: 110,545,174 (GRCm39)	A41T	possibly damaging	Het
Or51b6	A	G	7: 103,555,669 (GRCm39)	I5V	probably benign	Het
Or5d43	A	C	2: 88,105,060 (GRCm39)	F111C	probably damaging	Het
Or6c209	T	G	10: 129,483,243 (GRCm39)	L82R	possibly damaging	Het
Plekhg3	A	T	12: 76,609,052 (GRCm39)	I142L	possibly damaging	Het
Tet1	G	A	10: 62,715,252 (GRCm39)	T181I	probably damaging	Het
Tfcp2l1	T	C	1: 118,580,612 (GRCm39)	V102A	possibly damaging	Het

Other mutations in Eif1ad13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6232:Eif1ad13	UTSW	12	87,762,351 (GRCm39)	nonsense	probably null
R6482:Eif1ad13	UTSW	12	87,762,565 (GRCm39)	missense	probably damaging	1.00
R7833:Eif1ad13	UTSW	12	87,762,322 (GRCm39)	missense	unknown
R8754:Eif1ad13	UTSW	12	87,762,569 (GRCm39)	missense	possibly damaging	0.89
R9612:Eif1ad13	UTSW	12	87,762,507 (GRCm39)	missense	probably benign	0.04

Posted On

2013-06-21