Mutagenetix > Incidental Mutation

Incidental Mutation 'R6556:Gm20730'

522154

Institutional Source

Beutler Lab

Gene Symbol

Gm20730

Ensembl Gene

ENSMUSG00000076500

Gene Name

predicted gene, 20730

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43058452-43059031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43058476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 112 (C112Y)

Ref Sequence

ENSEMBL: ENSMUSP00000100102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103301]

AlphaFold

A0A075B5J6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103301
AA Change: C112Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100102
Gene: ENSMUSG00000076500
AA Change: C112Y

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	37	114	2.93e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204422

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atosb	C	T	4: 43,033,896 (GRCm39)	R460H	probably damaging	Het
Atp2a1	G	T	7: 126,049,434 (GRCm39)	P536Q	probably benign	Het
Bnip5	T	A	17: 29,123,585 (GRCm39)	D114V	probably damaging	Het
Cabyr	T	A	18: 12,884,073 (GRCm39)	S187T	probably benign	Het
Camkk1	A	T	11: 72,924,696 (GRCm39)	N303I	probably benign	Het
Cdh13	C	T	8: 119,694,926 (GRCm39)	P259S	probably damaging	Het
Csnk1g3	A	G	18: 54,063,354 (GRCm39)	D255G	possibly damaging	Het
Dennd5b	A	C	6: 148,915,749 (GRCm39)		probably null	Het
Dnajc14	A	G	10: 128,650,500 (GRCm39)	D528G	probably benign	Het
Edem1	T	C	6: 108,831,318 (GRCm39)	F593S	probably benign	Het
Efcab3	A	G	11: 104,899,077 (GRCm39)	N4343S	probably null	Het
Erbb2	G	A	11: 98,326,908 (GRCm39)	D1106N	possibly damaging	Het
Ermp1	T	C	19: 29,590,321 (GRCm39)	M794V	possibly damaging	Het
Fip1l1	T	A	5: 74,707,838 (GRCm39)		probably null	Het
Gtf2h1	T	A	7: 46,458,089 (GRCm39)	C245S	probably damaging	Het
Hdhd5	T	C	6: 120,500,515 (GRCm39)	H61R	probably benign	Het
Ighv1-71	A	T	12: 115,706,092 (GRCm39)	V31E	probably damaging	Het
Igsf9b	T	C	9: 27,240,851 (GRCm39)	F688S	probably damaging	Het
Iqcd	T	C	5: 120,740,443 (GRCm39)	V258A	probably damaging	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Lpo	G	T	11: 87,708,589 (GRCm39)	Y136*	probably null	Het
Med30	A	G	15: 52,593,779 (GRCm39)		probably benign	Het
Mertk	T	A	2: 128,618,341 (GRCm39)	V524D	probably benign	Het
Ndufb11b	A	G	15: 81,864,939 (GRCm39)	D60G	probably damaging	Het
Or4c126	T	A	2: 89,824,517 (GRCm39)	F260Y	probably benign	Het
Or4c52	T	C	2: 89,845,438 (GRCm39)	Y55H	probably damaging	Het
Or5l13	T	C	2: 87,780,320 (GRCm39)	I86V	probably benign	Het
Pde6b	T	A	5: 108,569,367 (GRCm39)	M358K	possibly damaging	Het
Prep	GA	G	10: 45,034,410 (GRCm39)		probably null	Het
Prpf4b	G	A	13: 35,080,015 (GRCm39)	R793Q	probably damaging	Het
Rela	T	A	19: 5,697,366 (GRCm39)	N524K	probably damaging	Het
Relch	T	A	1: 105,654,165 (GRCm39)	F845I	probably damaging	Het
Rnaset2a	T	C	17: 8,360,480 (GRCm39)	D74G	probably damaging	Het
Semp2l2a	G	A	8: 13,887,690 (GRCm39)	Q134*	probably null	Het
Serinc2	T	A	4: 130,152,064 (GRCm39)	I267F	probably damaging	Het
Sesn3	T	C	9: 14,232,549 (GRCm39)	F274S	possibly damaging	Het
Spag1	T	C	15: 36,195,553 (GRCm39)	Y249H	probably damaging	Het
Sstr1	A	T	12: 58,260,478 (GRCm39)	D367V	possibly damaging	Het
Tasor	T	G	14: 27,151,215 (GRCm39)	Y64D	probably benign	Het
Tnnt1	T	C	7: 4,512,576 (GRCm39)	E110G	probably damaging	Het
Tpm1	T	A	9: 66,935,451 (GRCm39)		probably null	Het
Unc93b1	T	C	19: 3,994,105 (GRCm39)	V412A	probably benign	Het
Uox	G	C	3: 146,330,403 (GRCm39)		probably null	Het
Usp44	T	C	10: 93,681,870 (GRCm39)	Y107H	probably benign	Het

Other mutations in Gm20730

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0323:Gm20730	UTSW	6	43,058,449 (GRCm39)	splice site	probably null
R3821:Gm20730	UTSW	6	43,058,656 (GRCm39)	missense	probably benign
R3822:Gm20730	UTSW	6	43,058,656 (GRCm39)	missense	probably benign
R5493:Gm20730	UTSW	6	43,058,746 (GRCm39)	missense	possibly damaging	0.68
R5578:Gm20730	UTSW	6	43,058,474 (GRCm39)	missense	probably benign	0.00
R5796:Gm20730	UTSW	6	43,058,464 (GRCm39)	missense	probably damaging	0.99
R6812:Gm20730	UTSW	6	43,058,722 (GRCm39)	missense	probably benign	0.03
R6836:Gm20730	UTSW	6	43,058,767 (GRCm39)	splice site	probably null
R7615:Gm20730	UTSW	6	43,058,708 (GRCm39)	missense	probably null	0.99
R7809:Gm20730	UTSW	6	43,058,989 (GRCm39)	missense	probably benign	0.00
R8951:Gm20730	UTSW	6	43,058,638 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CATCCCCTGCAGAGAAGATG -3'
(R):5'- CACTTACTTGTATTGGTTCCTGCAG -3'

Sequencing Primer
(F):5'- TATGGAAAGCCCCATTTCCTAGGG -3'
(R):5'- ATTGGTTCCTGCAGAGGCCAG -3'

Posted On

2018-06-06