Mutagenetix > Incidental Mutation

Incidental Mutation 'R0368:Fam160b1'

30351

Institutional Source

Beutler Lab

Gene Symbol

Fam160b1

Ensembl Gene

ENSMUSG00000033478

Gene Name

family with sequence similarity 160, member B1

Synonyms

MMRRC Submission

038574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0368 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57361009-57389594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57368578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 34 (T34A)

Ref Sequence

ENSEMBL: ENSMUSP00000048903 (fasta)

Gene Model

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

AlphaFold

Q8CDM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036407
AA Change: T34A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: T34A

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 9,008,350	K2333*	probably null	Het
Aox4	C	T	1: 58,213,079	L38F	probably benign	Het
Arhgef15	T	C	11: 68,954,693	E111G	probably damaging	Het
Atp8a2	A	T	14: 59,860,212	I789N	probably damaging	Het
Cdca2	A	G	14: 67,700,347	S286P	possibly damaging	Het
Chrnb1	T	A	11: 69,784,757	K457M	probably damaging	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Cyb5r3	G	A	15: 83,158,792	A233V	probably benign	Het
Cyp4a10	T	A	4: 115,525,377	L278*	probably null	Het
Dnmt1	T	C	9: 20,941,757	E56G	probably damaging	Het
Fam166a	T	A	2: 25,220,673	D164E	probably benign	Het
Fbln5	A	G	12: 101,809,714		probably null	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gabrr3	A	G	16: 59,440,596	D289G	probably damaging	Het
Gpr45	T	C	1: 43,033,016	L273P	probably damaging	Het
Hkdc1	T	C	10: 62,411,707	E125G	probably null	Het
Il25	A	G	14: 54,935,174		probably null	Het
Itfg1	A	T	8: 85,764,407	W298R	probably damaging	Het
Kank1	A	T	19: 25,410,603	K547*	probably null	Het
Lama5	G	A	2: 180,181,230	R2748*	probably null	Het
Lrp4	C	T	2: 91,477,734	T508I	probably damaging	Het
Map3k10	C	T	7: 27,663,360	V434I	probably damaging	Het
Map3k6	A	G	4: 133,252,659	M1265V	probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Msh4	T	A	3: 153,888,825	Y113F	probably damaging	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Nrip1	A	G	16: 76,294,016	S218P	probably damaging	Het
Olfr1281	T	C	2: 111,328,787	Y123H	probably damaging	Het
Olfr1287	T	C	2: 111,449,788	I216T	probably benign	Het
Olig1	C	T	16: 91,270,652	S259F	probably damaging	Het
Osbpl9	A	G	4: 109,066,932	V499A	probably damaging	Het
Pafah2	T	C	4: 134,422,491	V371A	probably benign	Het
Pkp1	T	A	1: 135,875,683	M712L	probably benign	Het
Pkp1	T	C	1: 135,886,852	S244G	probably benign	Het
Ppp1r3a	T	C	6: 14,718,960	T652A	probably benign	Het
Rab21	A	T	10: 115,298,890	V108E	probably damaging	Het
Rab5b	C	T	10: 128,682,903	R120Q	probably benign	Het
Scd2	G	A	19: 44,301,246	V227I	probably benign	Het
Sema5b	T	A	16: 35,628,100	V82E	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc13a2	A	T	11: 78,404,800	L80*	probably null	Het
Slc1a5	C	T	7: 16,782,178	P93L	probably damaging	Het
Slc35b2	T	C	17: 45,566,463	V172A	probably benign	Het
Slfn8	A	G	11: 83,017,132	L195P	probably damaging	Het
Smox	G	A	2: 131,522,158	S320N	probably damaging	Het
Sptan1	T	C	2: 29,993,915	V589A	probably benign	Het
Stim2	G	A	5: 54,110,140		probably null	Het
V1ra8	A	G	6: 90,202,962	D49G	probably damaging	Het
Vmn1r233	A	T	17: 20,994,607	V27D	possibly damaging	Het
Vmn2r98	A	T	17: 19,065,827	K196*	probably null	Het
Wdr77	T	C	3: 105,962,066		probably null	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
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
R6765:Fam160b1	UTSW	19	57378745	missense	probably benign
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
R9060:Fam160b1	UTSW	19	57373018	missense	probably damaging	0.99
R9214:Fam160b1	UTSW	19	57385324	missense	probably damaging	0.99
R9233:Fam160b1	UTSW	19	57380666	missense	probably damaging	1.00
R9689:Fam160b1	UTSW	19	57381278	missense	probably benign	0.01
X0023:Fam160b1	UTSW	19	57384147	nonsense	probably null
X0062:Fam160b1	UTSW	19	57385257	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTGCCAGCGACTCTTCACC -3'
(R):5'- TGTGTGCGACTGACTACTCCACTC -3'

Sequencing Primer
(F):5'- TACATCAGTCACAGAATGACGG -3'
(R):5'- ctccactcccccatgcc -3'

Posted On

2013-04-24