Mutagenetix > Incidental Mutations

Incidental Mutation 'R4416:Fam160b1'

326860

Institutional Source

Beutler Lab

Gene Symbol

Fam160b1

Ensembl Gene

ENSMUSG00000033478

Gene Name

family with sequence similarity 160, member B1

Synonyms

MMRRC Submission

041137-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57361009-57389594 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

G to T at 57385397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048903 (fasta)

Gene Model

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

AlphaFold

Q8CDM8

Predicted Effect

probably null
Transcript: ENSMUST00000036407

SMART Domains

Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
4933412E24Rik	T	A	15: 60,016,423	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229		probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057		probably null	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	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
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
X0023:Fam160b1	UTSW	19	57384147	nonsense	probably null
X0062:Fam160b1	UTSW	19	57385257	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTAAGTCTCAGCACTGTGGATGG -3'
(R):5'- GCCCGTGTTTTAGTGACTTCAG -3'

Sequencing Primer
(F):5'- TCCTGGAGGCACAGACAC -3'
(R):5'- AGTGACTTCAGTGAATTCCTGTAGC -3'

Posted On

2015-07-07