Mutagenetix > Incidental Mutation

Incidental Mutation 'R7717:Gm14190'

594988

Institutional Source

Beutler Lab

Gene Symbol

Gm14190

Ensembl Gene

ENSMUSG00000078276

Gene Name

predicted gene 14190

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99581414-99581566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99581476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 31 (C31S)

Ref Sequence

ENSEMBL: ENSMUSP00000100694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105073]

AlphaFold

B1AQ87

Predicted Effect

unknown
Transcript: ENSMUST00000105073
AA Change: C31S

SMART Domains

Protein: ENSMUSP00000100694
Gene: ENSMUSG00000078276
AA Change: C31S

Domain	Start	End	E-Value	Type
SCOP:d1auk__	11	32	2e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	C	17: 43,761,644 (GRCm39)	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 4,013,970 (GRCm39)	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,251 (GRCm39)	D132G	probably benign	Het
Cep290	C	T	10: 100,328,543 (GRCm39)	R111W	probably benign	Het
Cfap44	A	G	16: 44,250,298 (GRCm39)	D792G	probably damaging	Het
Col20a1	C	T	2: 180,649,408 (GRCm39)	R1029W	probably damaging	Het
Csf3r	A	G	4: 125,931,403 (GRCm39)	Y462C	probably damaging	Het
Cthrc1	T	C	15: 38,940,511 (GRCm39)	V38A	probably benign	Het
Cxcr2	T	C	1: 74,197,998 (GRCm39)	V164A	probably benign	Het
Efr3b	A	G	12: 4,034,574 (GRCm39)	S199P	probably damaging	Het
Elavl4	A	G	4: 110,063,663 (GRCm39)	C342R	probably damaging	Het
Gemin5	A	T	11: 58,042,356 (GRCm39)		probably null	Het
Golt1b	T	A	6: 142,339,769 (GRCm39)	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,741,061 (GRCm39)	D29V	probably damaging	Het
Itih1	T	A	14: 30,653,142 (GRCm39)	D766V	probably damaging	Het
Larp1b	C	T	3: 40,926,879 (GRCm39)	S251F	probably damaging	Het
Lrp8	A	G	4: 107,691,940 (GRCm39)	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,395,126 (GRCm39)	S100P	probably benign	Het
Lss	T	C	10: 76,381,286 (GRCm39)	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,597,073 (GRCm39)	V568A	possibly damaging	Het
Myo10	A	T	15: 25,732,056 (GRCm39)	T311S	probably benign	Het
Nsd3	T	C	8: 26,172,578 (GRCm39)	V779A	probably benign	Het
Or10ak12	A	T	4: 118,666,130 (GRCm39)	S310R	probably damaging	Het
Or11h23	T	A	14: 50,948,219 (GRCm39)	L144Q	probably damaging	Het
Or2ag16	A	G	7: 106,351,843 (GRCm39)	W251R	possibly damaging	Het
Or2n1e	C	A	17: 38,586,471 (GRCm39)	Q270K	probably damaging	Het
Or51v8	T	C	7: 103,320,152 (GRCm39)	T29A	probably benign	Het
Or5b21	A	T	19: 12,839,159 (GRCm39)	I7F	probably benign	Het
Pak1	T	A	7: 97,535,555 (GRCm39)	D215E	probably benign	Het
Pde7b	A	G	10: 20,282,937 (GRCm39)	F355L	probably benign	Het
Phaf1	C	A	8: 105,978,236 (GRCm39)	Q397K	probably benign	Het
Pi4ka	A	G	16: 17,194,787 (GRCm39)	S204P		Het
Pirb	T	C	7: 3,720,782 (GRCm39)	K239E	not run	Het
Pirb	C	T	7: 3,720,800 (GRCm39)	G233R	not run	Het
Pnp	G	A	14: 51,188,460 (GRCm39)	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,822 (GRCm39)	L319Q	probably benign	Het
Rspry1	G	T	8: 95,349,750 (GRCm39)	C46F	probably damaging	Het
Sanbr	A	C	11: 23,556,757 (GRCm39)	C408G	probably benign	Het
Sec11c	C	T	18: 65,945,783 (GRCm39)	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,827,134 (GRCm39)	V414A	probably benign	Het
Tenm2	A	G	11: 36,755,762 (GRCm39)	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,042,019 (GRCm39)	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,193,394 (GRCm39)	S593P	probably damaging	Het
Zfp143	T	G	7: 109,685,427 (GRCm39)	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,821,293 (GRCm39)	N590S	possibly damaging	Het

Other mutations in Gm14190

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1937:Gm14190	UTSW	11	99,581,556 (GRCm39)	missense	unknown
R1990:Gm14190	UTSW	11	99,581,431 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TATTTGATGCTCTAGGGGACAAG -3'
(R):5'- TCAGGAAGAAGGCATGCTGC -3'

Sequencing Primer
(F):5'- GAATGGGTGATCATGGCCC -3'
(R):5'- CACATGAGGAGAGTGGACCCTC -3'

Posted On

2019-11-12