Mutagenetix > Incidental Mutation

Incidental Mutation 'R6282:Gm12790'

507988

Institutional Source

Beutler Lab

Gene Symbol

Gm12790

Ensembl Gene

ENSMUSG00000078626

Gene Name

predicted gene 12790

Synonyms

MMRRC Submission

044452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6282 (G1)

Quality Score

100.008

Status

Not validated

Chromosome

Chromosomal Location

101823444-101832302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101824713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 185 (V185A)

Ref Sequence

ENSEMBL: ENSMUSP00000102529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106916]

AlphaFold

B1AUV6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106916
AA Change: V185A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102529
Gene: ENSMUSG00000078626
AA Change: V185A

Domain	Start	End	E-Value	Type
low complexity region	131	136	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,690,781 (GRCm39)	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,099,650 (GRCm39)	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,252,822 (GRCm39)	I708N	probably benign	Het
Axin1	C	G	17: 26,362,011 (GRCm39)	D118E	probably damaging	Het
Bace2	A	T	16: 97,216,297 (GRCm39)	I297F	probably damaging	Het
Ccdc30	T	A	4: 119,181,214 (GRCm39)	D649V	probably damaging	Het
Cd180	G	A	13: 102,830,265 (GRCm39)	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,047,758 (GRCm39)	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,074,228 (GRCm39)	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,542,760 (GRCm39)	H2470R	probably damaging	Het
Drap1	G	A	19: 5,474,464 (GRCm39)		probably null	Het
Fbxo5	T	A	10: 5,751,216 (GRCm39)	K257M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7361	A	G	5: 26,465,411 (GRCm39)	N136S	probably benign	Het
Il10ra	C	A	9: 45,171,703 (GRCm39)	C255F	probably damaging	Het
Insyn2b	A	G	11: 34,352,819 (GRCm39)	D287G	possibly damaging	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Ktn1	A	T	14: 47,901,428 (GRCm39)	N62I	probably damaging	Het
Ldb2	A	G	5: 44,690,007 (GRCm39)	L204P	probably damaging	Het
Map2k4	T	C	11: 65,597,842 (GRCm39)	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,535,428 (GRCm39)	D287E	probably benign	Het
Mier2	A	G	10: 79,380,576 (GRCm39)	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,195,937 (GRCm39)	M609T	probably benign	Het
Myo1d	A	T	11: 80,448,338 (GRCm39)	V929D	probably damaging	Het
Naprt	A	T	15: 75,763,828 (GRCm39)	M364K	probably benign	Het
Nod2	T	A	8: 89,397,088 (GRCm39)	C833S	probably benign	Het
Nrip3	C	T	7: 109,362,686 (GRCm39)		probably null	Het
Ntsr2	A	G	12: 16,708,426 (GRCm39)	Y320C	probably damaging	Het
Or14j8	G	A	17: 38,263,315 (GRCm39)	S200F	possibly damaging	Het
Or4p7	C	A	2: 88,221,877 (GRCm39)	C95*	probably null	Het
Or51h1	G	A	7: 102,308,854 (GRCm39)	M275I	probably benign	Het
Osbpl3	A	T	6: 50,325,063 (GRCm39)		probably null	Het
Pcdhb3	C	T	18: 37,434,699 (GRCm39)	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,744,200 (GRCm39)	R184S	probably benign	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rad50	A	T	11: 53,560,597 (GRCm39)		probably null	Het
Rad51ap2	A	T	12: 11,507,560 (GRCm39)	H494L	probably benign	Het
Rbm25	T	C	12: 83,722,863 (GRCm39)	M762T	probably damaging	Het
Sars1	G	T	3: 108,335,590 (GRCm39)	S338*	probably null	Het
Usp35	T	C	7: 96,975,155 (GRCm39)	E6G	probably damaging	Het
Vash2	T	C	1: 190,692,422 (GRCm39)	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,763,443 (GRCm39)		probably benign	Het
Wfdc1	G	A	8: 120,406,146 (GRCm39)	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,667,805 (GRCm39)	H224Q	probably benign	Het

Other mutations in Gm12790

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02286:Gm12790	APN	4	101,824,918 (GRCm39)	missense	probably benign	0.06
R0184:Gm12790	UTSW	4	101,824,811 (GRCm39)	nonsense	probably null
R0217:Gm12790	UTSW	4	101,825,231 (GRCm39)	missense	probably damaging	1.00
R1401:Gm12790	UTSW	4	101,825,396 (GRCm39)	missense	probably benign	0.01
R1708:Gm12790	UTSW	4	101,825,174 (GRCm39)	missense	possibly damaging	0.83
R2116:Gm12790	UTSW	4	101,824,848 (GRCm39)	missense	possibly damaging	0.83
R4441:Gm12790	UTSW	4	101,825,337 (GRCm39)	missense	probably damaging	0.98
R4575:Gm12790	UTSW	4	101,825,324 (GRCm39)	missense	probably benign	0.17
R4578:Gm12790	UTSW	4	101,825,324 (GRCm39)	missense	probably benign	0.17
R5148:Gm12790	UTSW	4	101,825,268 (GRCm39)	missense	possibly damaging	0.57
R5519:Gm12790	UTSW	4	101,824,888 (GRCm39)	missense	probably benign	0.03
R8230:Gm12790	UTSW	4	101,825,280 (GRCm39)	missense	probably benign	0.19
R9274:Gm12790	UTSW	4	101,824,743 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGAGATCTAAGCCAGCCCAC -3'
(R):5'- ACTCCAACACGGGATCTTCTC -3'

Sequencing Primer
(F):5'- CCCACGGCACAACATGATTATTTTG -3'
(R):5'- AACACGGGATCTTCTCCGAGTTC -3'

Posted On

2018-03-15