Mutagenetix > Incidental Mutations

Incidental Mutation 'R1343:Gm11397'

156441

Institutional Source

Beutler Lab

Gene Symbol

Gm11397

Ensembl Gene

ENSMUSG00000071452

Gene Name

predicted gene 11397

Synonyms

MMRRC Submission

039408-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R1343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33395761-33405285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33404485 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 351 (C351Y)

Ref Sequence

ENSEMBL: ENSMUSP00000049819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050276]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050276
AA Change: C351Y

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049819
Gene: ENSMUSG00000071452
AA Change: C351Y

Domain	Start	End	E-Value	Type
SERPIN	13	377	1.3e-164	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle2	T	C	5: 110,237,966	V361A	probably damaging	Het
Art1	A	G	7: 102,106,953	Y117C	probably damaging	Het
Cecr2	T	C	6: 120,754,711	Y215H	probably damaging	Het
Col6a3	T	C	1: 90,768,347	E2666G	unknown	Het
Cps1	T	A	1: 67,209,609	V1165E	probably damaging	Het
Gpr65	A	T	12: 98,275,629	K180N	probably benign	Het
Gsto2	A	T	19: 47,884,707		probably null	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Kif19a	A	G	11: 114,785,827	D494G	probably benign	Het
Lnx1	T	C	5: 74,597,379	R695G	probably damaging	Het
Lonp1	A	G	17: 56,620,272	L327P	probably damaging	Het
Nat8	T	C	6: 85,830,621	T177A	probably damaging	Het
Nek1	T	A	8: 61,028,675	M208K	probably damaging	Het
Obsl1	G	T	1: 75,492,579	H1239Q	probably damaging	Het
Olfr667	A	G	7: 104,916,627	I223T	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Prmt3	C	T	7: 49,818,108	S354L	probably benign	Het
Ralgapa1	T	A	12: 55,707,978	H1176L	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Strc	T	C	2: 121,365,115	S1618G	probably benign	Het
Syne2	T	C	12: 76,033,643	S4784P	probably damaging	Het
Usp14	T	C	18: 10,016,623	T73A	probably benign	Het
Vmn2r53	G	A	7: 12,584,774	P458L	probably benign	Het
Zfp292	T	C	4: 34,805,238	D2602G	probably damaging	Het

Other mutations in Gm11397

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02206:Gm11397	APN	13	33404199	missense	probably damaging	0.99
IGL02662:Gm11397	APN	13	33404530	missense	possibly damaging	0.51
R0017:Gm11397	UTSW	13	33404511	missense	probably damaging	0.99
R1757:Gm11397	UTSW	13	33399353	missense	probably benign	0.00
R1886:Gm11397	UTSW	13	33404220	missense	possibly damaging	0.56
R5559:Gm11397	UTSW	13	33404318	missense	probably benign
R5681:Gm11397	UTSW	13	33395829	missense	probably damaging	0.98
R6189:Gm11397	UTSW	13	33404444	missense	probably benign
R7585:Gm11397	UTSW	13	33404316	missense	probably benign	0.43
R7746:Gm11397	UTSW	13	33397858	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTCTTCGATGGAAGCAAGGCTG -3'
(R):5'- GTCATCTGACCTGGCAAAGGACAC -3'

Sequencing Primer
(F):5'- GGCTGACTTATCAGGAATGTCTAC -3'
(R):5'- ACGGTGAAAGTTCCTTCATCTTG -3'

Posted On

2014-02-11