Mutagenetix > Incidental Mutation

Incidental Mutation 'R5148:Gm12790'

395194

Institutional Source

Beutler Lab

Gene Symbol

Gm12790

Ensembl Gene

ENSMUSG00000078626

Gene Name

predicted gene 12790

Synonyms

MMRRC Submission

043262-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5148 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101823444-101832302 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101825268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 49 (V49I)

Ref Sequence

ENSEMBL: ENSMUSP00000102529 (fasta)

Gene Model

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

AlphaFold

B1AUV6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106916
AA Change: V49I

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102529
Gene: ENSMUSG00000078626
AA Change: V49I

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	A	T	3: 126,819,285 (GRCm39)		probably null	Het
Atf7	A	G	15: 102,455,608 (GRCm39)	M252T	probably benign	Het
Cacna1h	C	A	17: 25,606,519 (GRCm39)	D1027Y	probably damaging	Het
Cngb1	A	G	8: 95,992,611 (GRCm39)	V667A	probably benign	Het
Cntf	T	C	19: 12,741,368 (GRCm39)	E164G	probably damaging	Het
Dbt	T	C	3: 116,321,893 (GRCm39)		probably benign	Het
Egfem1	G	A	3: 29,511,972 (GRCm39)		probably benign	Het
Gm5444	C	T	13: 4,884,314 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	T	2: 132,376,110 (GRCm39)	Y574*	probably null	Het
Gss	G	T	2: 155,415,029 (GRCm39)	N225K	possibly damaging	Het
Il17rc	G	T	6: 113,459,958 (GRCm39)	A635S	probably benign	Het
Lhfpl5	T	A	17: 28,798,942 (GRCm39)	D150E	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc40	T	G	3: 157,760,206 (GRCm39)		probably null	Het
Ly6f	A	G	15: 75,143,646 (GRCm39)	T118A	probably benign	Het
Malrd1	A	G	2: 16,147,037 (GRCm39)	N1960D	unknown	Het
Map3k14	T	C	11: 103,130,158 (GRCm39)	H253R	probably benign	Het
Morc2a	T	C	11: 3,639,084 (GRCm39)	L1025P	probably damaging	Het
Nlrc5	G	T	8: 95,203,321 (GRCm39)	G474W	probably damaging	Het
Olr1	G	T	6: 129,470,572 (GRCm39)	D198E	probably benign	Het
Or5b123	C	A	19: 13,596,874 (GRCm39)	S116*	probably null	Het
Or5d14	G	A	2: 87,880,737 (GRCm39)	T77I	probably benign	Het
Or8c16	T	C	9: 38,130,317 (GRCm39)	I66T	probably benign	Het
Pafah1b1	A	T	11: 74,575,278 (GRCm39)	S209T	probably damaging	Het
Phf14	A	T	6: 11,961,641 (GRCm39)	Y426F	possibly damaging	Het
Phldb1	A	G	9: 44,615,455 (GRCm39)	V855A	probably benign	Het
Pira2	T	G	7: 3,847,592 (GRCm39)	R32S	possibly damaging	Het
Pnldc1	T	C	17: 13,111,676 (GRCm39)	I344V	probably benign	Het
Prss29	T	C	17: 25,539,881 (GRCm39)	V93A	probably benign	Het
Ptpn13	C	T	5: 103,640,098 (GRCm39)	L186F	probably damaging	Het
Ralgps1	A	C	2: 33,048,999 (GRCm39)	C303W	probably damaging	Het
Sdr42e1	T	A	8: 118,390,342 (GRCm39)	N100Y	probably damaging	Het
Serpina11	A	T	12: 103,952,503 (GRCm39)	L96Q	probably damaging	Het
Slc12a8	G	A	16: 33,445,288 (GRCm39)	R448H	probably benign	Het
Snrpd1	T	A	18: 10,626,892 (GRCm39)	V53E	probably benign	Het
Ssbp1	T	C	6: 40,454,883 (GRCm39)	V114A	possibly damaging	Het
T	A	G	17: 8,655,037 (GRCm39)	E47G	probably damaging	Het
Tmem156	T	C	5: 65,231,111 (GRCm39)	K189R	probably benign	Het
Trim47	G	T	11: 115,998,678 (GRCm39)	Q314K	possibly damaging	Het
Vmn2r3	G	T	3: 64,186,247 (GRCm39)	P146Q	probably damaging	Het
Vmn2r6	A	C	3: 64,464,015 (GRCm39)	V273G	probably damaging	Het
Wrnip1	G	T	13: 32,990,839 (GRCm39)	R366L	probably damaging	Het
Zfp981	A	T	4: 146,621,357 (GRCm39)	H94L	possibly damaging	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
R5519:Gm12790	UTSW	4	101,824,888 (GRCm39)	missense	probably benign	0.03
R6282:Gm12790	UTSW	4	101,824,713 (GRCm39)	missense	possibly damaging	0.73
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'- ATAATCTGCCTTGATCCCATGC -3'
(R):5'- TTTTCTGGATGCTCCCACAG -3'

Sequencing Primer
(F):5'- GAATGACAACTACAGCTTTGCCTTC -3'
(R):5'- GGACCCCTCTACCGGAATC -3'

Posted On

2016-06-21