Mutagenetix > Incidental Mutation

Incidental Mutation 'R4531:Eif1ad19'

333119

Institutional Source

Beutler Lab

Gene Symbol

Eif1ad19

Ensembl Gene

ENSMUSG00000095724

Gene Name

eukaryotic translation initiation factor 1A domain containing 19

Synonyms

Gm21319

MMRRC Submission

041771-MU

Accession Numbers

Essential gene?

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

Stock #

R4531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87739195-87742525 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 87740314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 82 (Q82*)

Ref Sequence

ENSEMBL: ENSMUSP00000126351 (fasta)

Gene Model

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

AlphaFold

F6YNI8

Predicted Effect

probably null
Transcript: ENSMUST00000164517
AA Change: Q82*

SMART Domains

Protein: ENSMUSP00000126351
Gene: ENSMUSG00000095724
AA Change: Q82*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,736,962 (GRCm39)	T526A	probably benign	Het
Acad12	T	C	5: 121,736,964 (GRCm39)	Q525R	probably benign	Het
Cnot3	T	C	7: 3,661,073 (GRCm39)	V558A	probably benign	Het
Cntnap4	G	A	8: 113,537,240 (GRCm39)	V704M	possibly damaging	Het
Col22a1	T	C	15: 71,878,998 (GRCm39)	D53G	probably damaging	Het
Cspp1	T	A	1: 10,137,072 (GRCm39)		probably benign	Het
Cyp2d10	T	A	15: 82,289,462 (GRCm39)	T217S	probably benign	Het
Dcaf6	T	C	1: 165,239,036 (GRCm39)	T229A	probably damaging	Het
E4f1	A	T	17: 24,664,961 (GRCm39)	S408T	possibly damaging	Het
Gpr149	A	G	3: 62,510,099 (GRCm39)	F339L	probably benign	Het
Hmbox1	A	T	14: 65,062,938 (GRCm39)	C413S	probably benign	Het
Kmo	T	C	1: 175,487,273 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Lrpprc	T	C	17: 85,020,215 (GRCm39)	I1157V	probably benign	Het
Obscn	A	G	11: 58,898,700 (GRCm39)		probably benign	Het
Or14c40	T	A	7: 86,313,479 (GRCm39)	L203H	probably benign	Het
Or8k23	A	T	2: 86,186,318 (GRCm39)	M136K	probably damaging	Het
Pclo	A	G	5: 14,825,422 (GRCm39)	D4657G	unknown	Het
Pgd	T	C	4: 149,241,234 (GRCm39)	K225R	probably benign	Het
Poli	A	T	18: 70,650,548 (GRCm39)	H297Q	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc24a2	T	C	4: 86,909,715 (GRCm39)	I668V	possibly damaging	Het
Tdrd6	A	G	17: 43,939,645 (GRCm39)	S468P	probably damaging	Het
Trav6-4	A	G	14: 53,691,790 (GRCm39)	T3A	probably benign	Het
Trpc2	G	T	7: 101,745,205 (GRCm39)	R807L	probably damaging	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Tubgcp3	G	T	8: 12,713,932 (GRCm39)	L62I	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vwce	A	C	19: 10,641,710 (GRCm39)	E812A	probably benign	Het
Zmynd12	T	C	4: 119,280,194 (GRCm39)		probably null	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
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
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'- CAGCTGAACATCAAGATGCC -3'
(R):5'- TCTACCAGCTCCTGTGGTTG -3'

Sequencing Primer
(F):5'- GCTGAACATCAAGATGCCAATTGTG -3'
(R):5'- TTTCCATCATGCCAAAGAATAAAGGC -3'

Posted On

2015-08-18