Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Fam160b1'

700396

Institutional Source

Beutler Lab

Gene Symbol

Fam160b1

Ensembl Gene

ENSMUSG00000033478

Gene Name

family with sequence similarity 160, member B1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R9233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57361009-57389594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57380666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 360 (F360L)

Ref Sequence

ENSEMBL: ENSMUSP00000048903 (fasta)

Gene Model

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

AlphaFold

Q8CDM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036407
AA Change: F360L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: F360L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,140,094	Y444C	possibly damaging	Het
Abca6	G	T	11: 110,191,670	T1159K	probably benign	Het
Acap1	A	G	11: 69,884,658	V479A	probably benign	Het
Actl11	A	G	9: 107,930,701	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,178,391	R418*	probably null	Het
Asic3	G	A	5: 24,413,839	R43H	probably damaging	Het
BC067074	A	T	13: 113,366,220	Y100F		Het
Bsn	A	G	9: 108,117,090	V662A	probably benign	Het
Cacna1a	C	T	8: 84,544,654	R479C	probably damaging	Het
Chchd3	A	T	6: 32,803,910	C214S	probably damaging	Het
Dock9	T	A	14: 121,583,369	T1538S	probably benign	Het
Dyrk1a	A	G	16: 94,666,054	M156V	probably benign	Het
Dzip1	T	C	14: 118,887,223	Q546R	probably benign	Het
Eef2	T	C	10: 81,178,834	V185A	probably benign	Het
Etv4	A	C	11: 101,771,706	V314G	probably damaging	Het
F5	T	A	1: 164,219,451	I2160N	probably damaging	Het
Fbp2	A	T	13: 62,841,808	V228E	possibly damaging	Het
Gcc1	A	G	6: 28,418,711	L541P	probably damaging	Het
Gemin4	A	G	11: 76,213,116	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,145,087	K1193E	possibly damaging	Het
Gmps	C	T	3: 64,016,712	P687L	probably damaging	Het
Gpr162	A	G	6: 124,859,051	L462P	possibly damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hspa12b	T	C	2: 131,134,116	Y13H	probably damaging	Het
Kcnh8	A	C	17: 52,978,140	E1046A	probably damaging	Het
Kcnk12	T	A	17: 87,746,110	T375S	probably benign	Het
Kdm4a	A	G	4: 118,146,996		probably null	Het
Klhl5	G	T	5: 65,143,330	V219L	possibly damaging	Het
Kpna1	A	T	16: 36,033,423	E474D	probably damaging	Het
Lama5	A	T	2: 180,198,709	Y632*	probably null	Het
Lias	A	G	5: 65,393,988	N88S	probably benign	Het
Mei1	C	T	15: 82,089,551	R80C		Het
Micalcl	T	G	7: 112,382,192	S458A	probably benign	Het
Mrps33	A	G	6: 39,805,513	S25P	probably benign	Het
Mttp	T	A	3: 138,116,519	D169V	probably damaging	Het
Npdc1	A	G	2: 25,406,317	E72G	probably damaging	Het
Nsrp1	G	A	11: 77,046,210	R387W	probably benign	Het
Pcnx4	A	G	12: 72,556,813	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pigu	C	T	2: 155,336,690	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,422,200	R52*	probably null	Het
Rbm33	A	G	5: 28,339,241	E165G	probably benign	Het
Rnf5	A	T	17: 34,603,352	V41E	possibly damaging	Het
Ror2	T	C	13: 53,111,554	T501A	probably benign	Het
Rps17	T	G	7: 81,343,749	M105L	probably benign	Het
Ryr2	A	T	13: 11,595,886	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,525,894	M721V	probably benign	Het
Scgb1b30	A	G	7: 34,099,759	T39A	probably damaging	Het
Selenoo	T	C	15: 89,099,841	V620A	probably damaging	Het
Slfn8	A	C	11: 83,003,596	I739R	probably damaging	Het
Smc6	A	G	12: 11,309,290	T972A	probably benign	Het
Spred1	G	A	2: 117,172,163	R221H	unknown	Het
Stag1	T	A	9: 100,929,971	M834K	probably benign	Het
Taf1a	T	C	1: 183,400,724	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,284,192	D158N	probably benign	Het
Tcirg1	G	T	19: 3,902,543	T275K	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tor1b	A	C	2: 30,954,003	I151L	probably benign	Het
Trappc12	T	A	12: 28,722,415	Q471L	possibly damaging	Het
Trim28	G	A	7: 13,029,563	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,465,413	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,761,956	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,088,229	R118G	probably benign	Het
Vps13d	G	A	4: 145,152,774	T1493I		Het
Xrra1	T	G	7: 99,867,367	M6R	probably benign	Het
Zfp142	T	C	1: 74,571,129	E1169G	probably benign	Het
Zfp738	G	T	13: 67,670,898	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,882,517	M1209T	probably damaging	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
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
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'- GGGACATCTCTTATCTGCGTC -3'
(R):5'- TAAGGTAACATCTCTCCAAAGGGG -3'

Sequencing Primer
(F):5'- AGTATCTTCTGATTGGTACCCAG -3'
(R):5'- GAGAGTTCATGAGTGTTTATAGGCAC -3'

Posted On

2022-02-07