Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01118:Eif1ad19'

52472

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif1ad19

Ensembl Gene

ENSMUSG00000095724

Gene Name

eukaryotic translation initiation factor 1A domain containing 19

Synonyms

Gm21319

Accession Numbers

Essential gene?

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

Stock #

IGL01118

Quality Score

Status

Chromosome

Chromosomal Location

87739195-87742525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87740212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 116 (N116Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126351 (fasta)

Gene Model

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

AlphaFold

F6YNI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000164517
AA Change: N116Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126351
Gene: ENSMUSG00000095724
AA Change: N116Y

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,195,058 (GRCm39)	R539Q	probably benign	Het
Abcb1a	G	A	5: 8,724,687 (GRCm39)	R40H	probably damaging	Het
Acan	T	A	7: 78,748,401 (GRCm39)	S1057R	possibly damaging	Het
Ahnak	A	T	19: 8,989,942 (GRCm39)	D3742V	probably damaging	Het
Amdhd1	A	T	10: 93,367,430 (GRCm39)	D241E	probably benign	Het
Cntn5	T	C	9: 9,831,565 (GRCm39)	Y605C	possibly damaging	Het
Dnmt3l	T	C	10: 77,893,120 (GRCm39)	F299S	probably damaging	Het
Ess2	A	T	16: 17,720,796 (GRCm39)	I350N	probably damaging	Het
G6pd2	A	T	5: 61,967,406 (GRCm39)	M394L	probably benign	Het
Gm9839	A	T	1: 32,558,924 (GRCm39)	M386K	probably benign	Het
Gtf2h3	T	C	5: 124,733,731 (GRCm39)	V268A	probably damaging	Het
Hgs	T	C	11: 120,366,040 (GRCm39)	V195A	probably damaging	Het
Igkv3-2	A	T	6: 70,675,978 (GRCm39)	S96C	probably damaging	Het
Mgl2	A	G	11: 70,025,015 (GRCm39)	E12G	probably benign	Het
Mup11	A	T	4: 60,615,779 (GRCm39)	F153I	probably damaging	Het
Nf1	T	A	11: 79,437,812 (GRCm39)	C2057S	probably damaging	Het
Nkrf	A	G	X: 36,152,410 (GRCm39)	F624S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Or8k40	A	G	2: 86,584,314 (GRCm39)	I256T	probably benign	Het
Pax8	T	C	2: 24,332,944 (GRCm39)		probably benign	Het
Psg28	A	T	7: 18,162,017 (GRCm39)	V162D	probably damaging	Het
Rai1	T	C	11: 60,078,264 (GRCm39)	F776S	probably damaging	Het
Taar8a	A	T	10: 23,952,759 (GRCm39)	H121L	probably damaging	Het
Tas2r113	A	G	6: 132,870,278 (GRCm39)	N102S	probably benign	Het
Trpm1	A	G	7: 63,885,572 (GRCm39)	T863A	probably benign	Het
Ttf2	A	G	3: 100,874,413 (GRCm39)		probably benign	Het
Wdr62	T	C	7: 29,942,206 (GRCm39)	H611R	probably damaging	Het
Wdr90	A	T	17: 26,073,661 (GRCm39)	L762Q	probably damaging	Het
Yeats2	T	G	16: 20,005,054 (GRCm39)	S364A	probably damaging	Het
Zdhhc15	G	T	X: 103,641,712 (GRCm39)	Q82K	probably benign	Het

Other mutations in Eif1ad19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0089:Eif1ad19	UTSW	12	87,740,283 (GRCm39)	missense	probably damaging	1.00
R0559:Eif1ad19	UTSW	12	87,740,223 (GRCm39)	missense	probably benign
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

Posted On

2013-06-21