Mutagenetix > Incidental Mutations

Incidental Mutation 'R6654:Gm13757'

526544

Institutional Source

Beutler Lab

Gene Symbol

Gm13757

Ensembl Gene

ENSMUSG00000090097

Gene Name

predicted gene 13757

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88442814-88449131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88446672 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 89 (T89P)

Ref Sequence

ENSEMBL: ENSMUSP00000136580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126038] [ENSMUST00000179450]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126038
AA Change: T89P

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179450
AA Change: T89P

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136580
Gene: ENSMUSG00000090097
AA Change: T89P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	303	1.4e-49	PFAM
Pfam:7tm_1	39	285	1.5e-13	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	A	2: 111,171,884	M154L	unknown	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Armc6	T	C	8: 70,231,375	E9G	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
Ddc	A	T	11: 11,880,452	I64N	probably damaging	Het
Exd1	T	A	2: 119,524,717		probably null	Het
Gm15922	A	T	7: 3,735,929	S560T	probably benign	Het
Gm4847	C	A	1: 166,630,387	G466C	probably damaging	Het
Gm5431	T	C	11: 48,894,600	D316G	possibly damaging	Het
Gsta4	T	C	9: 78,209,099	F197L	probably damaging	Het
Irs2	A	G	8: 11,006,486	Y649H	probably damaging	Het
Kif16b	T	C	2: 142,701,277		probably benign	Het
Krtap12-1	T	C	10: 77,720,703		probably benign	Het
Ktn1	G	A	14: 47,690,000	S537N	probably damaging	Het
Med12l	G	T	3: 59,262,292	G1626W	probably damaging	Het
Mfng	T	A	15: 78,759,339	T223S	probably damaging	Het
Msh3	T	C	13: 92,345,042	T321A	probably benign	Het
Myo7b	T	C	18: 31,990,269	I672V	possibly damaging	Het
Nbas	C	T	12: 13,483,874	Q1837*	probably null	Het
Nlrc4	G	A	17: 74,445,528	A620V	possibly damaging	Het
Nubpl	T	A	12: 52,310,733	V310E	probably damaging	Het
Olfr1109	A	G	2: 87,093,050	S116P	probably benign	Het
P2ry12	A	G	3: 59,218,020	L78P	probably damaging	Het
Pkd1l3	T	G	8: 109,624,283	S587A	probably benign	Het
Prkacb	A	G	3: 146,750,543	V145A	possibly damaging	Het
Rpgrip1l	T	C	8: 91,220,205	E1256G	probably benign	Het
Rsph4a	A	G	10: 33,912,992	Q611R	probably benign	Het
Sorl1	T	C	9: 41,980,645	D1903G	possibly damaging	Het
Tmem39b	A	T	4: 129,686,826	V291D	probably damaging	Het
Unc79	A	C	12: 103,079,048	K685Q	probably damaging	Het
Unc79	A	T	12: 103,079,049	K685I	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r112	G	T	17: 22,603,469	S376I	possibly damaging	Het
Zfp850	A	T	7: 27,985,215	C35*	probably null	Het
Zfp974	A	G	7: 27,926,403	V14A	probably damaging	Het

Other mutations in Gm13757

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0241:Gm13757	UTSW	2	88446545	missense	possibly damaging	0.48
R0627:Gm13757	UTSW	2	88446219	missense	probably damaging	1.00
R0634:Gm13757	UTSW	2	88446617	missense	probably benign	0.10
R1305:Gm13757	UTSW	2	88446302	nonsense	probably null
R1353:Gm13757	UTSW	2	88446551	missense	probably benign	0.42
R1765:Gm13757	UTSW	2	88446023	missense	probably damaging	1.00
R1974:Gm13757	UTSW	2	88446509	missense	probably damaging	0.97
R1990:Gm13757	UTSW	2	88446689	missense	probably damaging	1.00
R2196:Gm13757	UTSW	2	88446710	missense	probably benign	0.10
R2974:Gm13757	UTSW	2	88446574	nonsense	probably null
R4794:Gm13757	UTSW	2	88446347	missense	probably benign	0.12
R5495:Gm13757	UTSW	2	88446057	missense	probably benign	0.03
R5771:Gm13757	UTSW	2	88446308	missense	possibly damaging	0.94
R6756:Gm13757	UTSW	2	88446734	missense	possibly damaging	0.78
R8070:Gm13757	UTSW	2	88446659	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACTAGCATCATAACCTGGGG -3'
(R):5'- GGCTATCTTCCAAGCAGAACAC -3'

Sequencing Primer
(F):5'- CTAGCATCATAACCTGGGGAAAGG -3'
(R):5'- CCAAGCAGAACACTGAAGTATTTTGC -3'

Posted On

2018-07-23