Mutagenetix > Incidental Mutations

Incidental Mutation 'R5552:Gm10436'

435189

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

043109-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88178365 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 64 (T64S)

Ref Sequence

ENSEMBL: ENSMUSP00000152194 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071580
AA Change: T72S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: T72S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220521

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081
AA Change: T64S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

unknown
Transcript: ENSMUST00000222556
AA Change: T63S

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,836,548	Y403H	probably benign	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Arhgap19	T	C	19: 41,784,380	I291M	probably benign	Het
Armc4	A	G	18: 7,285,360	V267A	possibly damaging	Het
Blzf1	A	T	1: 164,302,489	I91N	probably damaging	Het
Cdh2	T	C	18: 16,640,463	T270A	possibly damaging	Het
Chd5	T	A	4: 152,385,815	M1906K	possibly damaging	Het
Cpsf1	T	C	15: 76,599,646	D799G	probably benign	Het
Csnk1g3	T	C	18: 53,932,283	F313L	probably benign	Het
Cyfip1	T	C	7: 55,872,107	V53A	possibly damaging	Het
Dcst1	T	C	3: 89,365,066	D30G	probably benign	Het
Dlgap2	G	T	8: 14,831,342	G805*	probably null	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,783,628		probably benign	Het
Epha8	T	C	4: 136,931,899	N843S	probably damaging	Het
Evi5	A	T	5: 107,818,989	V222E	probably damaging	Het
Gli1	C	A	10: 127,330,262	A1041S	probably benign	Het
Glipr1l1	A	T	10: 112,062,338	Q116L	probably benign	Het
Hectd4	T	A	5: 121,342,851	L2985Q	possibly damaging	Het
Hist1h3d	A	G	13: 23,576,121	D107G	probably damaging	Het
Hk2	G	T	6: 82,730,823	R694S	possibly damaging	Het
Htt	A	G	5: 34,821,774	M834V	probably benign	Het
Itpr2	A	G	6: 146,294,080	Y1600H	probably benign	Het
Med1	A	T	11: 98,166,331	Y340*	probably null	Het
Mov10l1	T	A	15: 89,054,366		probably null	Het
Mrc1	T	C	2: 14,279,957	F586L	probably benign	Het
Mrrf	T	A	2: 36,147,961	D81E	possibly damaging	Het
Nod1	A	G	6: 54,944,631	F234S	probably damaging	Het
Olfr1331	T	A	4: 118,869,468	I228N	probably damaging	Het
Olfr822	T	C	10: 130,075,145	V245A	probably damaging	Het
Pde4a	T	C	9: 21,201,386	V343A	probably damaging	Het
Pmfbp1	T	A	8: 109,531,751	L649Q	probably damaging	Het
Polq	A	G	16: 37,094,510	I2511V	possibly damaging	Het
Serac1	T	A	17: 6,056,692	R361*	probably null	Het
Serpina3g	T	C	12: 104,240,336	V132A	probably damaging	Het
Thada	A	C	17: 84,429,130	S908A	probably benign	Het
Zfp280b	C	T	10: 76,039,663	Q459*	probably null	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
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
R7544:Gm10436	UTSW	12	88176080	missense	probably benign	0.00
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'- TGAACCTTTTGTGCAAGCAG -3'
(R):5'- TCGGTAGTGATCTAGCCCTCAC -3'

Sequencing Primer
(F):5'- GTGCAAGCAGTATATCTAGTCCC -3'
(R):5'- GGTAGTGATCTAGCCCTCACACTTC -3'

Posted On

2016-10-24