Mutagenetix > Incidental Mutations

Incidental Mutation 'R7544:Gm10436'

584107

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88176080 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 451 (Y451F)

Ref Sequence

ENSEMBL: ENSMUSP00000071508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071580] [ENSMUST00000220521] [ENSMUST00000222081] [ENSMUST00000223172]

Predicted Effect

probably benign
Transcript: ENSMUST00000071580
AA Change: Y451F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: Y451F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	247	445	5e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220521
AA Change: Y256F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

probably benign
Transcript: ENSMUST00000222556

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
4933427D14Rik	C	T	11: 72,198,939	V40I	probably damaging	Het
Abcb11	T	C	2: 69,265,486	K837E	probably benign	Het
Arhgef10	T	C	8: 14,979,854	S919P	probably benign	Het
Atxn2	T	C	5: 121,781,368	S530P	probably damaging	Het
Bicc1	T	C	10: 70,956,374	E268G	possibly damaging	Het
Capn7	T	G	14: 31,340,050	L40V	probably damaging	Het
Cd28	A	T	1: 60,769,700	N191I	probably damaging	Het
Cfap69	G	A	5: 5,595,936	T588M	not run	Het
Csmd1	T	C	8: 16,092,296	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,491,086	D398V	probably damaging	Het
Dchs2	T	C	3: 83,355,127	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,126,285	G37S	probably damaging	Het
Diaph1	A	T	18: 37,893,269		probably null	Het
Ech1	T	C	7: 28,825,967	V49A	probably benign	Het
Elovl4	T	C	9: 83,783,218	Y196C	probably damaging	Het
Ern2	G	A	7: 122,173,199	L679F	probably benign	Het
Fbf1	A	T	11: 116,165,833	M17K	probably benign	Het
Flvcr1	C	A	1: 191,025,946	G50W	probably damaging	Het
Fryl	A	G	5: 73,081,039	S1455P	probably benign	Het
Fzd9	A	G	5: 135,249,862	Y390H	probably damaging	Het
Gm12800	T	C	4: 101,911,402	S317P	possibly damaging	Het
Gm884	T	C	11: 103,615,448	E1898G	probably benign	Het
Gnai3	C	T	3: 108,118,386	V126M		Het
Gpc5	T	C	14: 115,428,173	F470L	probably damaging	Het
Grin1	T	C	2: 25,305,074	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,579,542	I117F	possibly damaging	Het
Hydin	A	T	8: 110,589,525	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,757,080	H152Q	probably benign	Het
Kcnk12	A	T	17: 87,746,065	S390T	possibly damaging	Het
Klra9	T	G	6: 130,191,220	T28P	probably benign	Het
Lef1	T	A	3: 131,194,765	I327N	probably damaging	Het
Lin54	A	G	5: 100,485,270	V185A	possibly damaging	Het
Lrrc4b	A	T	7: 44,462,551	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,844	Y85H	possibly damaging	Het
Mars	T	C	10: 127,311,610	E7G	probably benign	Het
Mpnd	G	A	17: 56,011,666	R225H	probably benign	Het
Muc4	T	A	16: 32,736,198	M1K	probably null	Het
Nckap5	A	G	1: 126,026,211	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,697,184	T618M	probably damaging	Het
Npas1	A	T	7: 16,460,974		probably null	Het
Nr2f2	A	T	7: 70,354,751	V384D	probably damaging	Het
Olfr1208	T	A	2: 88,897,361	I79F	probably damaging	Het
Olfr378	A	G	11: 73,425,770	L71P	probably damaging	Het
Olfr516	A	G	7: 108,845,321	S230P	probably benign	Het
Paip1	T	A	13: 119,445,801	F188I	probably damaging	Het
Pcdha4	A	T	18: 36,953,723	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427		probably null	Het
Pgpep1	C	T	8: 70,650,518	G110R	unknown	Het
Pidd1	T	A	7: 141,440,339	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,531,349		probably null	Het
Prkcg	A	G	7: 3,310,565	D96G	probably benign	Het
Prpf40b	A	G	15: 99,306,018	N154S	probably benign	Het
Psg17	A	G	7: 18,819,972	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,009,511	I209T	probably damaging	Het
Reln	T	A	5: 21,976,278	K1835*	probably null	Het
Sf3b3	T	C	8: 110,838,283	M298V	probably benign	Het
Slc5a3	T	A	16: 92,077,794	N246K	probably benign	Het
Slmap	T	A	14: 26,429,846	E522D	probably damaging	Het
Slmap	C	T	14: 26,429,848	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,360,998	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,971,635		probably null	Het
Tet3	A	T	6: 83,404,641	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,071,867	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,280,214		probably benign	Het
Trak2	A	T	1: 58,921,068		probably null	Het
Trappc11	T	A	8: 47,522,414	E256D	possibly damaging	Het
Trim62	C	T	4: 128,902,553	T281I	probably benign	Het
Trip13	T	C	13: 73,932,902	E115G	probably benign	Het
Trp63	A	G	16: 25,802,087	T10A	probably benign	Het
Urah	A	T	7: 140,835,652	H11L	probably damaging	Het
Usp39	G	A	6: 72,342,908	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,237,912	T468A	probably benign	Het
Zfhx4	T	G	3: 5,412,815	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,749,065	R296H	probably benign	Het

Other mutations in Gm10436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Gm10436	APN	12	88177112	missense	probably benign	0.35
IGL01391:Gm10436	APN	12	88178455	missense	possibly damaging	0.84
IGL01432:Gm10436	APN	12	88176432	missense	probably benign	0.44
IGL01519:Gm10436	APN	12	88177561	missense	probably benign	0.00
IGL01784:Gm10436	APN	12	88176315	missense	probably benign
IGL02121:Gm10436	APN	12	88178472	missense	possibly damaging	0.83
IGL02728:Gm10436	APN	12	88176022	missense	probably benign	0.17
R0336:Gm10436	UTSW	12	88178191	missense	probably benign	0.20
R0554:Gm10436	UTSW	12	88177558	missense	probably benign	0.10
R1279:Gm10436	UTSW	12	88175880	missense	probably benign	0.42
R1832:Gm10436	UTSW	12	88178448	missense	possibly damaging	0.73
R1833:Gm10436	UTSW	12	88178448	missense	possibly damaging	0.73
R1900:Gm10436	UTSW	12	88177260	missense	probably benign	0.02
R2412:Gm10436	UTSW	12	88177110	missense	probably damaging	0.98
R3040:Gm10436	UTSW	12	88178348	missense	probably benign	0.00
R3625:Gm10436	UTSW	12	88175961	missense	probably benign	0.06
R4078:Gm10436	UTSW	12	88175913	missense	probably benign	0.38
R4270:Gm10436	UTSW	12	88178283	missense	probably damaging	1.00
R4271:Gm10436	UTSW	12	88178283	missense	probably damaging	1.00
R5318:Gm10436	UTSW	12	88176228	missense	probably benign	0.01
R5552:Gm10436	UTSW	12	88178365	missense	probably benign	0.03
R5601:Gm10436	UTSW	12	88176047	missense	probably damaging	1.00
R5881:Gm10436	UTSW	12	88176341	missense	probably damaging	1.00
R5973:Gm10436	UTSW	12	88175913	missense	probably benign	0.02
R6058:Gm10436	UTSW	12	88177225	missense	possibly damaging	0.91
R6488:Gm10436	UTSW	12	88177587	missense	possibly damaging	0.87
R6656:Gm10436	UTSW	12	88175993	missense	possibly damaging	0.89
R7307:Gm10436	UTSW	12	88181749	missense	probably damaging	1.00
R7332:Gm10436	UTSW	12	88176417	missense	possibly damaging	0.72
R7569:Gm10436	UTSW	12	88176315	missense	probably benign
R7645:Gm10436	UTSW	12	88176258	missense	probably damaging	1.00
R7752:Gm10436	UTSW	12	88175999	missense	probably damaging	1.00
R7855:Gm10436	UTSW	12	88176083	missense	probably benign	0.03
R7860:Gm10436	UTSW	12	88176352	missense	possibly damaging	0.89
R8113:Gm10436	UTSW	12	88177080	missense	probably benign	0.00
R8356:Gm10436	UTSW	12	88177216	missense	probably benign	0.01
R8456:Gm10436	UTSW	12	88177216	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACAAAACGGCAACATTGGG -3'
(R):5'- CCTTGAGAGAGTTGGAGATACC -3'

Sequencing Primer
(F):5'- GCAACATTGGGTATGCCGATC -3'
(R):5'- GTTGGAGATACCCTGAAAACCCTG -3'

Posted On

2019-10-17