Mutagenetix > Incidental Mutation

Incidental Mutation 'R1602:Gm12169'

176216

Institutional Source

Beutler Lab

Gene Symbol

Gm12169

Ensembl Gene

ENSMUSG00000078924

Gene Name

predicted gene 12169

Synonyms

MMRRC Submission

039639-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R1602 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46524212-46538156 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46535588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 174 (I174T)

Ref Sequence

ENSEMBL: ENSMUSP00000104851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109228]

AlphaFold

F2Z474

Predicted Effect

probably benign
Transcript: ENSMUST00000109228
AA Change: I174T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104851
Gene: ENSMUSG00000078924
AA Change: I174T

Domain	Start	End	E-Value	Type
IG	22	128	3.76e-8	SMART
transmembrane domain	159	181	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119281

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.4%

Validation Efficiency

91% (49/54)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	A	T	17: 65,983,688	Y1583*	probably null	Het
Ankrd34c	T	C	9: 89,729,005	T428A	possibly damaging	Het
Arfgef1	G	C	1: 10,204,890	I312M	probably benign	Het
Atr	T	C	9: 95,951,557	L2620P	probably damaging	Het
Ccdc110	A	G	8: 45,938,918	Y54C	probably benign	Het
Cecr2	T	C	6: 120,755,587	V480A	possibly damaging	Het
Chfr	A	G	5: 110,151,665	D308G	probably benign	Het
Cit	T	A	5: 115,997,730	I1919N	probably damaging	Het
Ctsc	T	A	7: 88,278,304	D34E	possibly damaging	Het
Diaph3	T	A	14: 87,091,158		probably benign	Het
Dnah6	T	A	6: 73,067,469	I3220F	probably damaging	Het
Elmod3	A	G	6: 72,569,259		probably null	Het
Fam35a	A	G	14: 34,267,650	I433T	probably damaging	Het
Fgd5	T	C	6: 92,066,184	V1215A	possibly damaging	Het
Filip1	T	C	9: 79,820,591	M249V	probably damaging	Het
Fmn1	C	T	2: 113,525,623	P803L	unknown	Het
Gcfc2	A	G	6: 81,944,420	K469R	probably damaging	Het
Gm6803	C	A	12: 88,018,364	E136D	probably benign	Het
Gm8994	G	A	6: 136,328,780	A80T	probably damaging	Het
Itgad	A	G	7: 128,190,939	T637A	probably damaging	Het
Kank2	T	C	9: 21,769,837	S799G	probably damaging	Het
Kcnc4	A	T	3: 107,448,204	D309E	possibly damaging	Het
Lamc2	G	A	1: 153,127,028	T1069M	probably benign	Het
Lepr	T	A	4: 101,745,645	M210K	possibly damaging	Het
Lig3	T	C	11: 82,792,194		probably null	Het
Oat	G	T	7: 132,570,007	T33K	probably benign	Het
Olfr1356	T	A	10: 78,846,968	M316L	probably benign	Het
Olfr1368	T	C	13: 21,142,650	M136V	probably damaging	Het
Olfr32	A	G	2: 90,139,055	F28S	probably damaging	Het
Pcnx3	G	T	19: 5,672,515	A1383E	probably damaging	Het
Pctp	T	C	11: 89,988,735	Y100C	probably damaging	Het
Pex6	G	T	17: 46,712,137	R213L	probably benign	Het
Phlpp2	T	C	8: 109,934,023	L770S	possibly damaging	Het
Pkn2	A	T	3: 142,853,538	D75E	possibly damaging	Het
Pla2g12b	T	C	10: 59,421,553		probably null	Het
Plch2	C	T	4: 154,984,450	V1135I	probably damaging	Het
Pskh1	T	A	8: 105,912,821	S44R	probably benign	Het
Ptpa	G	T	2: 30,437,590	A119S	probably benign	Het
Slfn3	A	G	11: 83,212,715	I137M	probably damaging	Het
St6galnac1	A	T	11: 116,769,287	S67T	probably benign	Het
Treml1	A	G	17: 48,364,889	E137G	probably damaging	Het
Ubr2	A	C	17: 46,941,061	C1518G	probably benign	Het
Vmn2r55	A	T	7: 12,652,644	C470S	probably damaging	Het

Other mutations in Gm12169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Gm12169	UTSW	11	46535539	missense	probably benign	0.13
BB019:Gm12169	UTSW	11	46535539	missense	probably benign	0.13
R0314:Gm12169	UTSW	11	46528537	missense	probably damaging	1.00
R0959:Gm12169	UTSW	11	46536420	nonsense	probably null
R1719:Gm12169	UTSW	11	46526294	missense	probably damaging	1.00
R1917:Gm12169	UTSW	11	46528531	missense	possibly damaging	0.82
R1918:Gm12169	UTSW	11	46528531	missense	possibly damaging	0.82
R1919:Gm12169	UTSW	11	46528531	missense	possibly damaging	0.82
R2202:Gm12169	UTSW	11	46528567	missense	probably benign	0.06
R2205:Gm12169	UTSW	11	46528567	missense	probably benign	0.06
R3964:Gm12169	UTSW	11	46535513	missense	possibly damaging	0.56
R3965:Gm12169	UTSW	11	46535513	missense	possibly damaging	0.56
R3966:Gm12169	UTSW	11	46535513	missense	possibly damaging	0.56
R5022:Gm12169	UTSW	11	46528532	missense	probably damaging	0.97
R5023:Gm12169	UTSW	11	46528532	missense	probably damaging	0.97
R7294:Gm12169	UTSW	11	46535612	missense	probably benign	0.41
R7441:Gm12169	UTSW	11	46528555	nonsense	probably null
R7932:Gm12169	UTSW	11	46535539	missense	probably benign	0.13
R8027:Gm12169	UTSW	11	46537917	missense	probably benign
R9306:Gm12169	UTSW	11	46528692	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TACAATACCCAACCGGCAATGGAGG -3'
(R):5'- TCCAAGCAATCTGAGACACAAGGTC -3'

Sequencing Primer
(F):5'- GGAAAAGTCTGGCTTGAGGTATG -3'
(R):5'- TGTCACTAAGGTAGCACACTG -3'

Posted On

2014-04-24