Mutagenetix > Incidental Mutation

Incidental Mutation 'R2337:Eif1ad5'

246598

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad5

Ensembl Gene

ENSMUSG00000079030

Gene Name

eukaryotic translation initiation factor 1A domain containing 5

Synonyms

Gm2046

Accession Numbers

Essential gene?

Not available question?

Stock #

R2337 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

87937598-87947001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87946948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 130 (V130E)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000110148
AA Change: V130E

SMART Domains

Protein: ENSMUSP00000105775
Gene: ENSMUSG00000079030
AA Change: V130E

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
9930111J21Rik2	T	C	11: 48,911,131 (GRCm39)	N434S	probably benign	Het
Acaca	T	C	11: 84,148,023 (GRCm39)	S691P	possibly damaging	Het
Arid5b	T	C	10: 67,933,607 (GRCm39)	D765G	possibly damaging	Het
Ccdc14	A	G	16: 34,525,388 (GRCm39)	H179R	probably benign	Het
Ccdc177	C	T	12: 80,805,465 (GRCm39)	A270T	unknown	Het
Cdh16	G	T	8: 105,348,902 (GRCm39)	T65K	probably benign	Het
Dag1	G	T	9: 108,084,596 (GRCm39)	Y848*	probably null	Het
Dnhd1	C	T	7: 105,352,674 (GRCm39)	T2609I	probably benign	Het
Fat4	A	G	3: 39,034,160 (GRCm39)	Y2604C	probably damaging	Het
Fhad1	T	C	4: 141,649,655 (GRCm39)	D164G	possibly damaging	Het
Fnip1	G	A	11: 54,366,563 (GRCm39)	D109N	probably damaging	Het
Gfm1	A	G	3: 67,342,847 (GRCm39)	D127G	probably damaging	Het
Gsap	T	A	5: 21,493,628 (GRCm39)	I755N	probably damaging	Het
Hdgfl2	T	C	17: 56,403,987 (GRCm39)	V281A	possibly damaging	Het
Hmg20b	T	C	10: 81,184,347 (GRCm39)	E50G	probably damaging	Het
Myo5a	A	G	9: 75,111,083 (GRCm39)	D1498G	probably damaging	Het
Poc5	T	C	13: 96,547,111 (GRCm39)	V458A	probably damaging	Het
Tada2b	T	C	5: 36,634,258 (GRCm39)	M107V	probably benign	Het
Tle6	T	C	10: 81,428,490 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Xkr7	G	A	2: 152,896,318 (GRCm39)	V391M	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
R1298:Eif1ad5	UTSW	12	87,946,853 (GRCm39)	missense	probably benign	0.00
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

PCR Primer
(F):5'- CCCTACCAGACATTATATTGATTGGTC -3'
(R):5'- CACTGCTGTGCCCTAAGTTC -3'

Sequencing Primer
(F):5'- TGATTGGTCTACGAGACTATCAAG -3'
(R):5'- GCTGTGCCCTAAGTTCAATTATAC -3'

Posted On

2014-10-30