Mutagenetix > Incidental Mutation

Incidental Mutation 'R4479:Gm3159'

331409

Institutional Source

Beutler Lab

Gene Symbol

Gm3159

Ensembl Gene

ENSMUSG00000095056

Gene Name

predicted gene 3159

Synonyms

MMRRC Submission

041736-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4479 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

4397526-4406347 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4398584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 92 (Y92H)

Ref Sequence

ENSEMBL: ENSMUSP00000137464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164038] [ENSMUST00000167245] [ENSMUST00000177764]

AlphaFold

K7N760

Predicted Effect

probably damaging
Transcript: ENSMUST00000164038
AA Change: Y92H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126043
Gene: ENSMUSG00000095056
AA Change: Y92H

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	1.3e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167245
AA Change: Y92H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133201
Gene: ENSMUSG00000095056
AA Change: Y92H

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	5.1e-21	PFAM
transmembrane domain	240	262	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177764
AA Change: Y92H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137464
Gene: ENSMUSG00000095056
AA Change: Y92H

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	5.6e-30	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

95% (36/38)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 46,005,239	T553A	possibly damaging	Het
Adamts20	C	T	15: 94,403,445	R66H	probably damaging	Het
Anks1b	A	G	10: 90,049,892	E150G	probably damaging	Het
Chp2	A	G	7: 122,220,918	D97G	probably benign	Het
Cnbd2	T	C	2: 156,333,653		probably benign	Het
D130040H23Rik	C	A	8: 69,302,503	H187N	possibly damaging	Het
Dusp15	A	G	2: 152,944,182	L135P	probably damaging	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Erlin2	G	T	8: 27,025,099	V10L	probably benign	Het
F830104G03Rik	A	G	3: 56,890,213	S98P	unknown	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Ighv1-22	G	T	12: 114,746,663	A15E	possibly damaging	Het
Ints4	T	C	7: 97,484,971	S37P	probably damaging	Het
Irs1	G	A	1: 82,287,294	T1067I	probably damaging	Het
Lrrc28	C	T	7: 67,531,614		probably null	Het
Olfr1243	A	G	2: 89,528,170	I80T	possibly damaging	Het
Olfr1420	A	G	19: 11,896,558	Y179C	probably damaging	Het
Olfr206	G	A	16: 59,344,867	T278I	probably damaging	Het
Psg18	C	T	7: 18,350,862	S103N	probably benign	Het
Psma3	T	C	12: 70,984,781		probably benign	Het
Slc7a11	T	C	3: 50,417,963		probably benign	Het
Tas2r115	T	C	6: 132,737,532	D152G	probably damaging	Het
Tti1	A	T	2: 158,008,395	L308Q	possibly damaging	Het
Unc93b1	G	A	19: 3,935,236	A15T	probably benign	Het
Usp43	G	A	11: 67,856,407	R820C	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vps8	A	T	16: 21,545,236		probably benign	Het
Wdr73	T	C	7: 80,893,221	E213G	probably benign	Het
Zfp286	C	G	11: 62,780,204	G348R	probably damaging	Het
Zkscan5	T	C	5: 145,211,174		probably benign	Het

Other mutations in Gm3159

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02960:Gm3159	APN	14	4400552	critical splice donor site	probably null
R1398:Gm3159	UTSW	14	4398586	nonsense	probably null
R4477:Gm3159	UTSW	14	4398584	missense	probably damaging	1.00
R4480:Gm3159	UTSW	14	4398584	missense	probably damaging	1.00
R5677:Gm3159	UTSW	14	4398582	missense	probably damaging	0.97
R6957:Gm3159	UTSW	14	4398530	missense	possibly damaging	0.94
R7366:Gm3159	UTSW	14	4398525	missense	probably benign	0.27
R7514:Gm3159	UTSW	14	4399690	missense	probably damaging	1.00
R7796:Gm3159	UTSW	14	4400560	makesense	probably null
R7799:Gm3159	UTSW	14	4397585	unclassified	probably benign
R8486:Gm3159	UTSW	14	4400520	missense	probably damaging	1.00
R8493:Gm3159	UTSW	14	4398567	missense	probably damaging	1.00
R9345:Gm3159	UTSW	14	4398488	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CTGGGCCATCAAGTATGCAAAC -3'
(R):5'- AGATTGCAAGCATCCCAGGG -3'

Sequencing Primer
(F):5'- GGCCATCAAGTATGCAAACTCATTTG -3'
(R):5'- TGCAAGCATCCCAGGGTCAAG -3'

Posted On

2015-07-21