Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03080:Eif1ad17'

417840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif1ad17

Ensembl Gene

ENSMUSG00000096049

Gene Name

eukaryotic translation initiation factor 1A domain containing 17

Synonyms

Gm2075

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

IGL03080

Quality Score

Status

Chromosome

Chromosomal Location

87978618-87979052 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 87978615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180285]

AlphaFold

J3QMW5

Predicted Effect

probably benign
Transcript: ENSMUST00000180285

SMART Domains

Protein: ENSMUSP00000136486
Gene: ENSMUSG00000096049

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF1a	28	110	2.77e-46	SMART
low complexity region	125	144	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	T	C	8: 80,429,630 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,827 (GRCm39)	M734V	probably benign	Het
Aqp8	T	G	7: 123,065,802 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,632,500 (GRCm39)	D508G	probably damaging	Het
Cyp11b1	A	T	15: 74,711,285 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,937,980 (GRCm39)	D1619G	probably benign	Het
Ephb4	T	A	5: 137,352,345 (GRCm39)		probably benign	Het
Ffar3	A	T	7: 30,554,747 (GRCm39)	V191E	probably damaging	Het
Galnt1	T	A	18: 24,402,574 (GRCm39)	D310E	probably damaging	Het
Igf2r	T	C	17: 12,945,563 (GRCm39)	Y342C	probably benign	Het
Jade1	T	A	3: 41,554,510 (GRCm39)	C251*	probably null	Het
Jhy	T	C	9: 40,855,653 (GRCm39)	E278G	probably damaging	Het
Kif24	A	C	4: 41,394,417 (GRCm39)	S819A	probably benign	Het
Lrp8	T	C	4: 107,712,996 (GRCm39)	L344P	probably damaging	Het
Lrrc27	A	G	7: 138,810,153 (GRCm39)	T375A	probably benign	Het
Mbd3	C	T	10: 80,229,085 (GRCm39)	R204Q	probably damaging	Het
Nab2	T	C	10: 127,500,663 (GRCm39)	N143S	possibly damaging	Het
Nkiras2	T	C	11: 100,515,105 (GRCm39)		probably null	Het
Or7e174	A	T	9: 20,012,705 (GRCm39)	I217F	probably damaging	Het
Palm	C	A	10: 79,654,951 (GRCm39)	H74Q	probably damaging	Het
Pros1	T	A	16: 62,738,506 (GRCm39)	N408K	probably damaging	Het
Psg23	T	A	7: 18,340,910 (GRCm39)	Y448F	probably damaging	Het
Ranbp2	C	A	10: 58,312,613 (GRCm39)	P1111Q	probably benign	Het
Rims2	A	G	15: 39,399,299 (GRCm39)	S1115G	probably damaging	Het
Scn7a	T	C	2: 66,528,160 (GRCm39)	T777A	probably benign	Het
Spata31h1	T	C	10: 82,119,816 (GRCm39)	D428G	probably damaging	Het
Stard3nl	A	T	13: 19,554,648 (GRCm39)		probably null	Het
Sult1d1	T	C	5: 87,704,847 (GRCm39)	D214G	probably benign	Het
Tmprss12	T	C	15: 100,190,529 (GRCm39)	W300R	probably damaging	Het
Tmprss2	T	C	16: 97,398,044 (GRCm39)	Y44C	probably damaging	Het
Ttk	A	G	9: 83,725,136 (GRCm39)	N154D	probably damaging	Het
Tut4	T	A	4: 108,363,021 (GRCm39)	S444R	probably damaging	Het
Tyw1	T	C	5: 130,295,896 (GRCm39)	Y108H	probably damaging	Het
Vmn2r44	C	A	7: 8,386,244 (GRCm39)		probably benign	Het
Zfand1	A	G	3: 10,405,797 (GRCm39)	*269Q	probably null	Het
Zfp142	A	T	1: 74,610,368 (GRCm39)	D1039E	probably benign	Het
Zkscan5	G	T	5: 145,155,460 (GRCm39)	S377I	probably damaging	Het

Other mutations in Eif1ad17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02678:Eif1ad17	APN	12	87,978,946 (GRCm39)	missense	possibly damaging	0.78
R3857:Eif1ad17	UTSW	12	87,979,016 (GRCm39)	missense	unknown
R5161:Eif1ad17	UTSW	12	87,978,887 (GRCm39)	missense	possibly damaging	0.92
R5605:Eif1ad17	UTSW	12	87,978,768 (GRCm39)	missense	probably damaging	1.00
R9178:Eif1ad17	UTSW	12	87,978,786 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02