Mutagenetix > Incidental Mutations

Incidental Mutation 'R6765:Fam160b1'

531895

Institutional Source

Beutler Lab

Gene Symbol

Fam160b1

Ensembl Gene

ENSMUSG00000033478

Gene Name

family with sequence similarity 160, member B1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57361009-57389594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57378745 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 240 (D240G)

Ref Sequence

ENSEMBL: ENSMUSP00000048903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036407]

Predicted Effect

probably benign
Transcript: ENSMUST00000036407
AA Change: D240G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: D240G

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	78	495	1.1e-144	PFAM
low complexity region	713	724	N/A	INTRINSIC

Meta Mutation Damage Score

0.0721

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	G	T	3: 88,686,429	G42W	probably damaging	Het
3110002H16Rik	A	G	18: 12,176,146	N92D	possibly damaging	Het
Adamtsl3	C	A	7: 82,567,024	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,357,242	F336V	possibly damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Aoc1	A	G	6: 48,905,937	N249S	probably benign	Het
Ap1b1	T	A	11: 5,019,427	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,462,509	D530E	probably benign	Het
Arid4b	T	A	13: 14,187,315	M788K	possibly damaging	Het
Atp2c2	A	T	8: 119,753,017	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,776,343	R134L	probably damaging	Het
Cacna2d3	T	C	14: 29,055,977	D687G	probably damaging	Het
Ccdc136	G	A	6: 29,405,941	M95I	probably benign	Het
Cdk12	T	A	11: 98,224,529	I832N	unknown	Het
Clcn2	A	C	16: 20,707,668		probably null	Het
Csrnp2	C	T	15: 100,482,693	R239Q	probably damaging	Het
Dhrs13	T	A	11: 78,037,139	D270E	probably benign	Het
Dlgap2	G	A	8: 14,743,284	G426D	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Fam120a	A	G	13: 48,891,964	Y799H	probably damaging	Het
Farp1	G	A	14: 121,222,654	V112I	probably benign	Het
Fsip2	A	G	2: 82,986,432	I4170V	probably benign	Het
Gm12185	A	G	11: 48,915,704	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,167,122	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,871,788	R7*	probably null	Het
Itih3	C	T	14: 30,909,473	G822D	probably benign	Het
Kcnu1	A	T	8: 25,913,645	D728V	probably damaging	Het
Lnpep	G	A	17: 17,530,496	T976I	probably damaging	Het
Map1b	A	C	13: 99,425,941	H2420Q	unknown	Het
Mc1r	A	G	8: 123,407,696	K63E	probably damaging	Het
Mpped1	G	A	15: 83,836,383	V15M	probably damaging	Het
Ncor1	T	C	11: 62,373,446	T103A	probably benign	Het
Nhsl1	A	T	10: 18,531,314	T1399S	probably benign	Het
Nlrc5	C	T	8: 94,490,368	T995M	probably benign	Het
Nrbp1	G	A	5: 31,245,846		probably null	Het
Olfr1065	T	C	2: 86,445,236	T249A	probably benign	Het
Olfr1221	G	T	2: 89,112,296	T72N	possibly damaging	Het
Olfr979	A	C	9: 40,001,197	F10C	probably damaging	Het
Pcdhb13	T	C	18: 37,443,610	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,058,339	T4047A	probably benign	Het
Prrt2	T	A	7: 127,019,597	D232V	probably damaging	Het
Psmd5	A	C	2: 34,856,533	M344R	probably benign	Het
Pwp1	G	A	10: 85,884,533	E345K	probably damaging	Het
Qsox1	A	G	1: 155,791,105	Y213H	probably benign	Het
Sclt1	T	C	3: 41,730,902	R39G	unknown	Het
Syne1	A	T	10: 5,143,285		probably null	Het
Tmem163	G	T	1: 127,551,341	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,364,100	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,209,309	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,877,765	D1929E	probably damaging	Het
Upb1	A	T	10: 75,438,144	D335V	probably damaging	Het
Vps26b	T	C	9: 27,012,808	E213G	probably damaging	Het
Vwc2	C	T	11: 11,154,215	T249I	probably benign	Het
Wwc2	A	G	8: 47,900,791	Y103H	possibly damaging	Het
Zan	A	G	5: 137,393,147	C4692R	unknown	Het
Zfp106	T	C	2: 120,539,454	E29G	probably damaging	Het
Zfp551	G	A	7: 12,416,840	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,537,906	H429Q	probably benign	Het

Other mutations in Fam160b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Fam160b1	APN	19	57381345	missense	probably benign	0.00
IGL02642:Fam160b1	APN	19	57385350	missense	possibly damaging	0.55
IGL03152:Fam160b1	APN	19	57378832	missense	probably damaging	0.99
fredericksburg	UTSW	19	57384123	nonsense	probably null
williamsburg	UTSW	19	57384265	critical splice donor site	probably null
R0001:Fam160b1	UTSW	19	57381756	missense	probably benign	0.01
R0123:Fam160b1	UTSW	19	57381407	missense	probably benign	0.00
R0368:Fam160b1	UTSW	19	57368578	missense	possibly damaging	0.91
R0446:Fam160b1	UTSW	19	57381407	missense	probably benign	0.00
R0508:Fam160b1	UTSW	19	57378742	missense	probably benign	0.04
R0926:Fam160b1	UTSW	19	57381090	missense	probably damaging	1.00
R1122:Fam160b1	UTSW	19	57382301	missense	probably benign	0.00
R1344:Fam160b1	UTSW	19	57371162	missense	possibly damaging	0.72
R1398:Fam160b1	UTSW	19	57372926	splice site	probably benign
R1418:Fam160b1	UTSW	19	57371162	missense	possibly damaging	0.72
R1506:Fam160b1	UTSW	19	57368575	missense	probably benign	0.30
R1530:Fam160b1	UTSW	19	57386305	missense	probably damaging	0.99
R1695:Fam160b1	UTSW	19	57379171	missense	probably damaging	1.00
R1868:Fam160b1	UTSW	19	57386305	missense	possibly damaging	0.75
R1974:Fam160b1	UTSW	19	57385377	missense	probably damaging	0.99
R2004:Fam160b1	UTSW	19	57381892	missense	probably benign
R2893:Fam160b1	UTSW	19	57384169	missense	probably benign	0.01
R3011:Fam160b1	UTSW	19	57385288	missense	probably damaging	1.00
R3963:Fam160b1	UTSW	19	57373010	missense	possibly damaging	0.77
R4416:Fam160b1	UTSW	19	57385397	splice site	probably null
R4613:Fam160b1	UTSW	19	57371187	missense	probably damaging	0.99
R4735:Fam160b1	UTSW	19	57371229	missense	probably damaging	1.00
R4893:Fam160b1	UTSW	19	57381756	missense	probably benign	0.01
R4937:Fam160b1	UTSW	19	57378637	missense	probably benign
R5049:Fam160b1	UTSW	19	57386305	missense	possibly damaging	0.75
R5050:Fam160b1	UTSW	19	57383170	missense	probably damaging	1.00
R5080:Fam160b1	UTSW	19	57373281	missense	probably damaging	1.00
R5176:Fam160b1	UTSW	19	57371181	missense	probably damaging	0.98
R5317:Fam160b1	UTSW	19	57381709	splice site	probably null
R5347:Fam160b1	UTSW	19	57378619	missense	probably benign
R5497:Fam160b1	UTSW	19	57381151	splice site	probably null
R5969:Fam160b1	UTSW	19	57384123	nonsense	probably null
R6418:Fam160b1	UTSW	19	57381734	missense	probably benign	0.18
R6426:Fam160b1	UTSW	19	57383178	missense	probably damaging	1.00
R7472:Fam160b1	UTSW	19	57368585	missense	probably damaging	1.00
R7583:Fam160b1	UTSW	19	57378602	missense	probably benign	0.01
R7672:Fam160b1	UTSW	19	57385318	missense	possibly damaging	0.95
R8159:Fam160b1	UTSW	19	57384265	critical splice donor site	probably null
R8510:Fam160b1	UTSW	19	57382320	missense	probably benign	0.16
X0023:Fam160b1	UTSW	19	57384147	nonsense	probably null
X0062:Fam160b1	UTSW	19	57385257	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGGAGCTCTGAGTGTCATC -3'
(R):5'- AAGAACGCACACGGAACTTGTC -3'

Sequencing Primer
(F):5'- AGTGTCATCTCAGAGGATGGCC -3'
(R):5'- GCACACGGAACTTGTCAAATTC -3'

Posted On

2018-08-29