Mutagenetix > Incidental Mutation

Incidental Mutation 'R3840:BC035947'

277088

Institutional Source

Beutler Lab

Gene Symbol

BC035947

Ensembl Gene

ENSMUSG00000090486

Gene Name

cDNA sequence BC035947

Synonyms

MMRRC Submission

040780-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R3840 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78473663-78488795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78474482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 683 (N683K)

Ref Sequence

ENSEMBL: ENSMUSP00000132488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170511]

AlphaFold

B2RQY6

Predicted Effect

probably benign
Transcript: ENSMUST00000170511
AA Change: N683K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132488
Gene: ENSMUSG00000090486
AA Change: N683K

Domain	Start	End	E-Value	Type
PDB:2M9U\|A	43	87	3e-13	PDB
Pfam:TLV_coat	109	691	3.8e-147	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190853

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,620,104 (GRCm39)	K11N	probably benign	Het
Abcc8	A	G	7: 45,757,524 (GRCm39)	I1375T	possibly damaging	Het
Ate1	A	T	7: 130,117,867 (GRCm39)	D39E	probably damaging	Het
Cdca2	A	T	14: 67,917,720 (GRCm39)	Y559*	probably null	Het
Cmya5	A	G	13: 93,231,140 (GRCm39)	V1316A	probably damaging	Het
Cntnap5b	C	T	1: 100,311,202 (GRCm39)	T936I	possibly damaging	Het
Col6a5	T	C	9: 105,805,810 (GRCm39)	N1032S	unknown	Het
Cracd	A	T	5: 77,006,858 (GRCm39)	Q1073L	unknown	Het
Epc2	A	G	2: 49,378,750 (GRCm39)	K68R	probably damaging	Het
Erbb3	A	T	10: 128,406,193 (GRCm39)	F1075I	probably benign	Het
F11r	G	T	1: 171,288,457 (GRCm39)	R100L	probably damaging	Het
Fam171b	C	A	2: 83,710,406 (GRCm39)	Q693K	possibly damaging	Het
Fam83c	C	T	2: 155,676,668 (GRCm39)	R34H	probably benign	Het
Fmn2	GAAGA	GAAGAAAGA	1: 174,409,599 (GRCm39)		probably null	Het
Gask1b	T	A	3: 79,815,897 (GRCm39)	D302E	probably benign	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Hsph1	T	A	5: 149,544,180 (GRCm39)		probably null	Het
Jhy	T	A	9: 40,856,142 (GRCm39)	E115V	probably benign	Het
Kcnu1	G	T	8: 26,375,380 (GRCm39)	V365L	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,537 (GRCm39)	T388A	probably damaging	Het
Mastl	T	C	2: 23,030,563 (GRCm39)	D202G	probably damaging	Het
Medag	T	A	5: 149,350,888 (GRCm39)	I121N	probably damaging	Het
Mideas	T	C	12: 84,218,383 (GRCm39)	R526G	probably damaging	Het
Mocos	C	T	18: 24,809,681 (GRCm39)	A428V	probably damaging	Het
Mok	C	T	12: 110,781,591 (GRCm39)	V59M	probably benign	Het
Neb	C	A	2: 52,097,672 (GRCm39)		probably null	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or10al7	A	G	17: 38,366,239 (GRCm39)	S73P	probably damaging	Het
Or52s1	G	A	7: 102,861,900 (GRCm39)	G267R	probably damaging	Het
Otud1	G	T	2: 19,663,554 (GRCm39)	E228*	probably null	Het
Pcdhga11	A	T	18: 37,890,602 (GRCm39)	N537Y	probably damaging	Het
Pkd1l1	T	C	11: 8,839,050 (GRCm39)	Y878C	probably damaging	Het
Podxl	C	T	6: 31,500,016 (GRCm39)	V485I	probably damaging	Het
Psmd12	T	C	11: 107,376,398 (GRCm39)	I44T	probably benign	Het
Rap1gap	T	C	4: 137,444,758 (GRCm39)	F182S	probably damaging	Het
Slc22a13	T	C	9: 119,037,855 (GRCm39)	D91G	probably benign	Het
Slc4a11	A	G	2: 130,529,974 (GRCm39)	F268S	probably damaging	Het
Snap91	C	T	9: 86,721,618 (GRCm39)	V74M	probably damaging	Het
Tmem87b	T	A	2: 128,668,304 (GRCm39)	L150*	probably null	Het
Tmprss7	T	A	16: 45,481,195 (GRCm39)	R664*	probably null	Het
Tnfrsf11b	T	A	15: 54,115,478 (GRCm39)	H373L	probably damaging	Het
Tnfrsf23	A	G	7: 143,235,266 (GRCm39)	S33P	probably benign	Het
Tro	A	G	X: 149,429,198 (GRCm39)		probably benign	Het
Tulp1	A	G	17: 28,572,689 (GRCm39)	V489A	probably damaging	Het
Wac	C	A	18: 7,918,535 (GRCm39)	P416H	probably damaging	Het
Zap70	T	A	1: 36,817,498 (GRCm39)	I247N	probably damaging	Het
Zfp617	G	A	8: 72,685,961 (GRCm39)	G97E	probably damaging	Het

Other mutations in BC035947

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1853:BC035947	UTSW	1	78,475,653 (GRCm39)	missense	possibly damaging	0.95
R2079:BC035947	UTSW	1	78,488,561 (GRCm39)	utr 5 prime	probably benign
R2234:BC035947	UTSW	1	78,474,599 (GRCm39)	missense	probably damaging	0.98
R2235:BC035947	UTSW	1	78,474,599 (GRCm39)	missense	probably damaging	0.98
R3841:BC035947	UTSW	1	78,474,482 (GRCm39)	missense	probably benign	0.00
R4804:BC035947	UTSW	1	78,474,513 (GRCm39)	missense	probably damaging	1.00
R4909:BC035947	UTSW	1	78,474,666 (GRCm39)	missense	probably damaging	0.99
R5139:BC035947	UTSW	1	78,475,884 (GRCm39)	missense	possibly damaging	0.60
R5302:BC035947	UTSW	1	78,488,599 (GRCm39)	start codon destroyed	probably null	0.00
R5669:BC035947	UTSW	1	78,474,550 (GRCm39)	missense	probably damaging	0.98
R5686:BC035947	UTSW	1	78,474,567 (GRCm39)	missense	probably benign	0.03
R5868:BC035947	UTSW	1	78,474,960 (GRCm39)	missense	probably damaging	1.00
R5988:BC035947	UTSW	1	78,475,843 (GRCm39)	nonsense	probably null
R6787:BC035947	UTSW	1	78,475,527 (GRCm39)	missense	possibly damaging	0.64
R6854:BC035947	UTSW	1	78,475,125 (GRCm39)	missense	probably damaging	1.00
R7079:BC035947	UTSW	1	78,474,552 (GRCm39)	missense	probably damaging	1.00
R7168:BC035947	UTSW	1	78,476,230 (GRCm39)	missense	probably benign	0.04
R7387:BC035947	UTSW	1	78,475,098 (GRCm39)	missense	possibly damaging	0.92
R8468:BC035947	UTSW	1	78,474,967 (GRCm39)	missense	probably damaging	0.99
R8990:BC035947	UTSW	1	78,475,486 (GRCm39)	missense	probably damaging	0.98
R9192:BC035947	UTSW	1	78,475,877 (GRCm39)	nonsense	probably null
R9786:BC035947	UTSW	1	78,488,561 (GRCm39)	utr 5 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTGCATCTATCCTACTCTGGATA -3'
(R):5'- GATCCAACTGTTACCTCGTGT -3'

Sequencing Primer
(F):5'- GCATCTATCCTACTCTGGATAAAAGC -3'
(R):5'- GATCCAGTCCTTAAGAGATGCTG -3'

Posted On

2015-04-06