Mutagenetix > Incidental Mutation

Incidental Mutation 'R8234:Eif1ad5'

637281

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad5

Ensembl Gene

ENSMUSG00000079030

Gene Name

eukaryotic translation initiation factor 1A domain containing 5

Synonyms

Gm2046

MMRRC Submission

067666-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8234 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87937598-87947001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87940508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 71 (I71L)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110148
AA Change: I71L

SMART Domains

Protein: ENSMUSP00000105775
Gene: ENSMUSG00000079030
AA Change: I71L

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF1a	28	110	6.82e-46	SMART
low complexity region	125	144	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	A	14: 54,499,133 (GRCm39)	M38K	probably benign	Het
Ackr1	T	A	1: 173,159,582 (GRCm39)	R312S	probably benign	Het
Akap9	T	C	5: 4,094,845 (GRCm39)	V2213A	probably benign	Het
Alox5	T	A	6: 116,390,835 (GRCm39)	R439W	probably damaging	Het
Atrn	A	T	2: 130,864,920 (GRCm39)		probably null	Het
Casd1	A	G	6: 4,601,209 (GRCm39)	N14S	probably damaging	Het
Cry2	T	C	2: 92,242,974 (GRCm39)	S542G	probably benign	Het
Cyb5rl	A	G	4: 106,925,935 (GRCm39)	Y39C	probably damaging	Het
Dmpk	A	T	7: 18,822,048 (GRCm39)	K335N	probably benign	Het
Dnai1	A	G	4: 41,625,221 (GRCm39)	D395G	probably benign	Het
Dock4	C	T	12: 40,884,837 (GRCm39)		probably null	Het
Fmo4	T	C	1: 162,632,757 (GRCm39)	D198G	probably damaging	Het
Foxc2	G	A	8: 121,844,777 (GRCm39)	R475Q	probably damaging	Het
Gipr	C	A	7: 18,898,533 (GRCm39)	G37V	unknown	Het
Gpat3	T	C	5: 101,005,076 (GRCm39)		probably null	Het
Hcn4	A	G	9: 58,751,433 (GRCm39)	D353G	unknown	Het
Hectd4	T	A	5: 121,477,607 (GRCm39)	N2843K	possibly damaging	Het
Hmcn1	C	T	1: 150,469,761 (GRCm39)	V4973M	possibly damaging	Het
Il20rb	C	T	9: 100,341,263 (GRCm39)	S281N	probably benign	Het
Kcnh4	A	T	11: 100,643,093 (GRCm39)	N391K	possibly damaging	Het
Kitl	A	G	10: 99,887,708 (GRCm39)	T6A	probably damaging	Het
Krt36	A	G	11: 99,995,027 (GRCm39)	Y182H	probably damaging	Het
Lrp1b	T	G	2: 41,202,668 (GRCm39)	I1262L		Het
Mtf1	A	G	4: 124,738,039 (GRCm39)	E644G	probably benign	Het
Mtx2	A	G	2: 74,699,706 (GRCm39)	Y159C	probably damaging	Het
Nags	C	T	11: 102,039,824 (GRCm39)	S504F	probably damaging	Het
Ncam1	A	T	9: 49,456,523 (GRCm39)	F475L	probably damaging	Het
Nipal2	G	T	15: 34,600,178 (GRCm39)	T213N	possibly damaging	Het
Or52m1	T	A	7: 102,289,678 (GRCm39)	L75Q	probably damaging	Het
Or8h8	A	G	2: 86,753,313 (GRCm39)	S188P	probably damaging	Het
Pkm	T	C	9: 59,577,882 (GRCm39)	V233A	possibly damaging	Het
Pros1	T	A	16: 62,748,540 (GRCm39)	I671N	possibly damaging	Het
Rasd1	T	C	11: 59,855,118 (GRCm39)	I121V	probably damaging	Het
Relch	T	C	1: 105,681,235 (GRCm39)	S1180P	possibly damaging	Het
Samhd1	A	G	2: 156,958,270 (GRCm39)		probably null	Het
Serpinb9f	A	T	13: 33,509,898 (GRCm39)	Y30F	probably benign	Het
Slc5a10	T	C	11: 61,564,107 (GRCm39)	I543V	probably benign	Het
Stat5a	A	G	11: 100,770,129 (GRCm39)	I469V	possibly damaging	Het
Sugct	T	C	13: 17,032,459 (GRCm39)	E431G	probably benign	Het
Tecr	C	A	8: 84,299,880 (GRCm39)	R133L	possibly damaging	Het
Tiparp	A	G	3: 65,439,002 (GRCm39)	N106S	probably benign	Het
Triml1	T	C	8: 43,594,285 (GRCm39)	S49G	probably benign	Het
Trpm3	T	A	19: 22,692,640 (GRCm39)	S244T	possibly damaging	Het
Ttn	T	C	2: 76,553,324 (GRCm39)	D31055G	probably damaging	Het
Vcp	A	T	4: 42,985,242 (GRCm39)	I369N	probably damaging	Het
Vmn2r110	A	C	17: 20,804,691 (GRCm39)	N76K	probably benign	Het
Vmn2r12	T	C	5: 109,234,074 (GRCm39)	T713A	probably benign	Het
Vmn2r17	A	T	5: 109,601,235 (GRCm39)	K844N	probably benign	Het

Other mutations in Eif1ad5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01602:Eif1ad5	APN	12	87,940,530 (GRCm39)	unclassified	noncoding transcript
IGL01605:Eif1ad5	APN	12	87,940,530 (GRCm39)	unclassified	noncoding transcript
R1298:Eif1ad5	UTSW	12	87,946,853 (GRCm39)	missense	probably benign	0.00
R2337:Eif1ad5	UTSW	12	87,946,948 (GRCm39)	missense	unknown
R4641:Eif1ad5	UTSW	12	87,946,852 (GRCm39)	missense	probably benign	0.03
R8185:Eif1ad5	UTSW	12	87,940,433 (GRCm39)	missense	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- ACCTTTTCCATCATGCCAAAG -3'
(R):5'- CCCATTGGACTTGCAAACTGTATATG -3'

Sequencing Primer
(F):5'- TTTCCATCATGCCAAAGAATAAAGGC -3'
(R):5'- TTGCAAACTGTATATGCCCCAG -3'

Posted On

2020-07-13