Mutagenetix > Incidental Mutation

Incidental Mutation 'R0559:Eif1ad19'

45799

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad19

Ensembl Gene

ENSMUSG00000095724

Gene Name

eukaryotic translation initiation factor 1A domain containing 19

Synonyms

Gm21319

MMRRC Submission

038751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R0559 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

87739195-87742525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87740223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 112 (H112L)

Ref Sequence

ENSEMBL: ENSMUSP00000126351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164517]

AlphaFold

F6YNI8

Predicted Effect

probably benign
Transcript: ENSMUST00000164517
AA Change: H112L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126351
Gene: ENSMUSG00000095724
AA Change: H112L

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
eIF1a	28	110	6.17e-44	SMART
low complexity region	125	144	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222683

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,748,535 (GRCm39)	I289F	probably benign	Het
Adam15	G	A	3: 89,251,085 (GRCm39)	A540V	probably damaging	Het
Adat1	T	C	8: 112,709,062 (GRCm39)	T254A	probably damaging	Het
Agtpbp1	A	G	13: 59,644,814 (GRCm39)	V684A	probably benign	Het
Ahi1	A	G	10: 20,876,618 (GRCm39)		probably benign	Het
Arl5b	T	C	2: 15,077,998 (GRCm39)	Y108H	probably damaging	Het
Cep85l	A	G	10: 53,224,597 (GRCm39)	F331L	probably benign	Het
Ctnna2	T	C	6: 76,892,833 (GRCm39)	K785E	probably damaging	Het
Dgkd	T	A	1: 87,842,826 (GRCm39)	I118N	probably damaging	Het
Dicer1	G	A	12: 104,672,560 (GRCm39)	R896W	probably damaging	Het
Fbxl19	G	T	7: 127,349,390 (GRCm39)	W160L	possibly damaging	Het
H1f8	T	C	6: 115,924,760 (GRCm39)	Y89H	probably damaging	Het
Ipo5	T	C	14: 121,176,053 (GRCm39)	V626A	probably damaging	Het
Isx	A	G	8: 75,600,369 (GRCm39)	K34R	probably benign	Het
Myh6	T	C	14: 55,196,011 (GRCm39)	E596G	probably benign	Het
Olfml2a	T	C	2: 38,849,832 (GRCm39)	I516T	probably damaging	Het
Or14j5	C	T	17: 38,161,746 (GRCm39)	R88*	probably null	Het
Or5w12	T	G	2: 87,502,244 (GRCm39)	T156P	possibly damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Parp9	T	C	16: 35,768,362 (GRCm39)	F181L	probably benign	Het
Pkdcc	G	A	17: 83,523,454 (GRCm39)	G187D	probably benign	Het
Plekhh3	C	T	11: 101,055,592 (GRCm39)	E483K	possibly damaging	Het
Ptx4	C	T	17: 25,342,082 (GRCm39)	Q186*	probably null	Het
Qsox2	T	A	2: 26,104,169 (GRCm39)	H287L	probably benign	Het
Rev3l	G	A	10: 39,700,483 (GRCm39)	G1660D	probably damaging	Het
Scamp1	G	T	13: 94,344,690 (GRCm39)	A217E	possibly damaging	Het
Slc5a9	T	C	4: 111,742,779 (GRCm39)	I438V	probably benign	Het
Sort1	T	C	3: 108,263,895 (GRCm39)	F818S	probably damaging	Het
Srl	G	A	16: 4,314,842 (GRCm39)	P267S	probably benign	Het
Tbc1d1	T	C	5: 64,331,136 (GRCm39)	I105T	probably damaging	Het
Tifab	A	G	13: 56,324,060 (GRCm39)	Y128H	probably benign	Het
Trp53bp1	A	T	2: 121,058,282 (GRCm39)	S907T	probably damaging	Het
Ubr1	G	A	2: 120,778,364 (GRCm39)	R225*	probably null	Het
Upk3bl	A	G	5: 136,086,330 (GRCm39)	T89A	probably benign	Het
Vars1	T	A	17: 35,233,034 (GRCm39)	C916*	probably null	Het
Ywhaz	T	C	15: 36,791,208 (GRCm39)	E5G	possibly damaging	Het
Zfp91	T	C	19: 12,747,419 (GRCm39)	D568G	probably damaging	Het
Zgpat	T	C	2: 181,021,985 (GRCm39)		probably benign	Het

Other mutations in Eif1ad19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Eif1ad19	APN	12	87,740,212 (GRCm39)	missense	probably damaging	1.00
R0089:Eif1ad19	UTSW	12	87,740,283 (GRCm39)	missense	probably damaging	1.00
R1185:Eif1ad19	UTSW	12	87,740,478 (GRCm39)	missense	probably benign	0.14
R1185:Eif1ad19	UTSW	12	87,740,478 (GRCm39)	missense	probably benign	0.14
R1185:Eif1ad19	UTSW	12	87,740,478 (GRCm39)	missense	probably benign	0.14
R3800:Eif1ad19	UTSW	12	87,740,491 (GRCm39)	missense	possibly damaging	0.95
R4531:Eif1ad19	UTSW	12	87,740,314 (GRCm39)	nonsense	probably null
R5013:Eif1ad19	UTSW	12	87,740,512 (GRCm39)	nonsense	probably null
R5817:Eif1ad19	UTSW	12	87,740,201 (GRCm39)	missense	probably benign	0.01
R7137:Eif1ad19	UTSW	12	87,740,316 (GRCm39)	missense	possibly damaging	0.90
R7187:Eif1ad19	UTSW	12	87,740,708 (GRCm39)	start gained	probably benign
R7403:Eif1ad19	UTSW	12	87,740,314 (GRCm39)	missense	probably benign	0.10
R7505:Eif1ad19	UTSW	12	87,740,270 (GRCm39)	missense	probably benign	0.20
R8711:Eif1ad19	UTSW	12	87,740,130 (GRCm39)	missense	unknown
R8966:Eif1ad19	UTSW	12	87,740,273 (GRCm39)	nonsense	probably null
R9751:Eif1ad19	UTSW	12	87,740,526 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CAATGCACTGCTGTGCCCTAAATTC -3'
(R):5'- GTGTAAGGAGGCTGTGCCACATAAG -3'

Sequencing Primer
(F):5'- aattCATCAATTTGCATTAACAAGCC -3'
(R):5'- CTGTGCCACATAAGAGGAAAGTTG -3'

Posted On

2013-06-11