Mutagenetix > Incidental Mutation

Incidental Mutation 'R1298:Eif1ad5'

158224

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad5

Ensembl Gene

ENSMUSG00000079030

Gene Name

eukaryotic translation initiation factor 1A domain containing 5

Synonyms

Gm2046

MMRRC Submission

039364-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1298 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87937598-87947001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87946853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 98 (D98E)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110148
AA Change: D98E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105775
Gene: ENSMUSG00000079030
AA Change: D98E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222056

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	G	6: 116,404,225 (GRCm39)	W145R	probably damaging	Het
Aspm	T	A	1: 139,385,157 (GRCm39)	V267D	probably benign	Het
Bbs4	A	T	9: 59,247,096 (GRCm39)	W135R	probably damaging	Het
Cavin4	T	C	4: 48,672,593 (GRCm39)	V346A	probably benign	Het
Cdk18	A	C	1: 132,050,189 (GRCm39)		probably benign	Het
Cyp2j11	C	T	4: 96,195,497 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,136,118 (GRCm39)	I1007K	probably damaging	Het
Dnmt1	T	C	9: 20,852,752 (GRCm39)	E118G	probably benign	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Gm14496	T	C	2: 181,637,885 (GRCm39)	F320L	probably benign	Het
Gsdmc3	A	T	15: 63,732,130 (GRCm39)	L299M	probably damaging	Het
H6pd	T	C	4: 150,066,971 (GRCm39)	I472V	probably benign	Het
Hao2	G	T	3: 98,790,985 (GRCm39)	T63K	possibly damaging	Het
Jag2	C	T	12: 112,879,939 (GRCm39)		probably benign	Het
Mapre3	A	G	5: 31,022,211 (GRCm39)	Y211C	probably damaging	Het
Mycbp2	A	G	14: 103,393,334 (GRCm39)	S2966P	probably damaging	Het
Nsd3	T	A	8: 26,169,952 (GRCm39)	V696E	possibly damaging	Het
Obscn	A	G	11: 58,945,723 (GRCm39)	Y4163H	possibly damaging	Het
Or11h4b	A	T	14: 50,918,337 (GRCm39)	Y251*	probably null	Het
Or12e8	G	A	2: 87,188,414 (GRCm39)	A209T	probably benign	Het
Or6c3	G	T	10: 129,308,933 (GRCm39)	C124F	probably damaging	Het
Pde2a	A	G	7: 101,156,409 (GRCm39)	E607G	probably benign	Het
Pinlyp	T	A	7: 24,244,391 (GRCm39)	D51V	probably damaging	Het
Rcbtb2	T	A	14: 73,399,828 (GRCm39)	I87N	probably damaging	Het
Sfswap	A	G	5: 129,618,442 (GRCm39)	I459V	probably benign	Het
Slitrk6	T	C	14: 110,989,297 (GRCm39)	N137D	possibly damaging	Het
Smg1	A	T	7: 117,767,434 (GRCm39)		probably benign	Het
Sobp	T	A	10: 42,898,331 (GRCm39)	H418L	probably damaging	Het
Spock1	A	C	13: 57,660,563 (GRCm39)	D180E	probably benign	Het
Upk3a	G	A	15: 84,904,752 (GRCm39)	V167I	probably benign	Het
Vmn1r180	T	C	7: 23,652,572 (GRCm39)	V245A	possibly damaging	Het
Zbtb25	T	C	12: 76,396,775 (GRCm39)	E149G	probably benign	Het
Zgrf1	T	C	3: 127,377,538 (GRCm39)	C44R	possibly damaging	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
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
R8234:Eif1ad5	UTSW	12	87,940,508 (GRCm39)	missense	noncoding transcript

Predicted Primers

Posted On

2014-02-18