Mutagenetix > Incidental Mutation

Incidental Mutation 'R6447:Eif1ad10'

519233

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad10

Ensembl Gene

ENSMUSG00000095799

Gene Name

eukaryotic translation initiation factor 1A domain containing 10

Synonyms

Gm8332

MMRRC Submission

044389-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88216436-88216870 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88216494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 126 (D126G)

Ref Sequence

ENSEMBL: ENSMUSP00000136709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179468]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000179468
AA Change: D126G

SMART Domains

Protein: ENSMUSP00000136709
Gene: ENSMUSG00000095799
AA Change: D126G

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF1a	28	110	2.58e-46	SMART
low complexity region	125	144	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221854

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	G	3: 59,772,819 (GRCm39)	I108V	probably damaging	Het
Axl	C	A	7: 25,469,708 (GRCm39)	R476I	probably damaging	Het
Casr	A	G	16: 36,315,907 (GRCm39)	L721P	probably damaging	Het
Cntn6	A	T	6: 104,836,409 (GRCm39)	H925L	probably damaging	Het
Csmd1	T	C	8: 15,960,527 (GRCm39)	Y3296C	probably damaging	Het
Dnah3	G	A	7: 119,522,277 (GRCm39)	T3972M	probably benign	Het
Ect2	A	G	3: 27,169,633 (GRCm39)	F740S	probably damaging	Het
Exoc1	T	A	5: 76,691,364 (GRCm39)	D222E	probably damaging	Het
Hdac2	T	C	10: 36,869,812 (GRCm39)	V258A	possibly damaging	Het
Lrrk1	A	G	7: 65,952,476 (GRCm39)	S487P	probably benign	Het
Lyplal1	A	T	1: 185,821,639 (GRCm39)		probably null	Het
Nwd2	T	A	5: 63,964,898 (GRCm39)	I1494N	probably benign	Het
Pcdhb22	A	G	18: 37,653,269 (GRCm39)	E579G	possibly damaging	Het
Samd8	T	C	14: 21,842,624 (GRCm39)		probably null	Het
Sccpdh	A	G	1: 179,506,453 (GRCm39)	*131W	probably null	Het
Smarcal1	C	T	1: 72,625,033 (GRCm39)	S60L	probably damaging	Het
Stau2	A	T	1: 16,460,049 (GRCm39)	V264E	possibly damaging	Het
T	T	C	17: 8,660,463 (GRCm39)	I217T	possibly damaging	Het
Tbc1d1	C	T	5: 64,490,836 (GRCm39)	L896F	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,676,086 (GRCm39)	Y365C	probably damaging	Het
Trdv4	A	G	14: 54,312,931 (GRCm39)	T102A	probably damaging	Het
Vmn1r205	G	T	13: 22,776,912 (GRCm39)	N63K	probably damaging	Het
Vps13b	T	C	15: 35,572,272 (GRCm39)	V963A	probably benign	Het
Zswim2	T	C	2: 83,745,457 (GRCm39)		probably null	Het

Other mutations in Eif1ad10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1742:Eif1ad10	UTSW	12	88,216,453 (GRCm39)	missense	unknown
R3872:Eif1ad10	UTSW	12	88,216,476 (GRCm39)	missense	unknown
R3873:Eif1ad10	UTSW	12	88,216,476 (GRCm39)	missense	unknown
R3875:Eif1ad10	UTSW	12	88,216,476 (GRCm39)	missense	unknown
R5784:Eif1ad10	UTSW	12	88,216,525 (GRCm39)	missense	probably damaging	1.00
R6667:Eif1ad10	UTSW	12	88,216,475 (GRCm39)	missense	unknown
R7670:Eif1ad10	UTSW	12	88,216,524 (GRCm39)	missense	probably benign	0.14
R7852:Eif1ad10	UTSW	12	88,216,588 (GRCm39)	missense	probably damaging	1.00
R8508:Eif1ad10	UTSW	12	88,216,455 (GRCm39)	missense	unknown
Z1177:Eif1ad10	UTSW	12	88,216,572 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGCATTAACAAGACACACGTATGC -3'
(R):5'- ACCAAAATGCTGGGATGTGGAC -3'

Sequencing Primer
(F):5'- GACACACGTATGCCAAATGAAG -3'
(R):5'- CTGTGCCACATAAGAGGGAAGTTG -3'

Posted On

2018-05-24