Mutagenetix > Incidental Mutation

Incidental Mutation 'R5080:Fam160b1'

453360

Institutional Source

Beutler Lab

Gene Symbol

Fam160b1

Ensembl Gene

ENSMUSG00000033478

Gene Name

family with sequence similarity 160, member B1

Synonyms

MMRRC Submission

042669-MU

Accession Numbers

Essential gene?

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

Stock #

R5080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57361009-57389594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57373281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 134 (K134I)

Ref Sequence

ENSEMBL: ENSMUSP00000048903 (fasta)

Gene Model

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

AlphaFold

Q8CDM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036407
AA Change: K134I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048903
Gene: ENSMUSG00000033478
AA Change: K134I

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

0.4723

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	G	A	14: 103,049,308	G16S	possibly damaging	Het
Adcy4	A	T	14: 55,772,375	M740K	probably damaging	Het
Atp1a2	T	C	1: 172,284,445		probably benign	Het
Atrn	T	A	2: 130,970,124	I663N	possibly damaging	Het
Cacna2d1	T	C	5: 16,362,396		probably null	Het
Carf	C	A	1: 60,150,613	Q631K	probably damaging	Het
Ces1d	T	C	8: 93,181,547	D306G	probably benign	Het
Corin	T	A	5: 72,353,851		probably benign	Het
Csf1r	T	C	18: 61,124,301	F575L	probably damaging	Het
Dcaf6	T	C	1: 165,420,121	D181G	probably damaging	Het
Dnah11	C	T	12: 118,198,830	M1I	probably null	Het
Dnah7b	C	T	1: 46,182,380	R1215*	probably null	Het
Dpp3	T	A	19: 4,915,080	D464V	probably benign	Het
Drosha	C	A	15: 12,842,143	A344D	probably benign	Het
Fat3	G	T	9: 15,999,338	S1789R	probably benign	Het
Frg2f1	T	C	4: 119,531,033	T90A	possibly damaging	Het
Frrs1	T	C	3: 116,902,936	I544T	probably benign	Het
Gm10020	A	G	15: 52,478,050		noncoding transcript	Het
Gm20939	T	C	17: 94,876,991	C356R	probably damaging	Het
Ifi206	T	A	1: 173,473,848	I755F	possibly damaging	Het
Kntc1	T	A	5: 123,762,586	V249E	possibly damaging	Het
Lama5	A	T	2: 180,207,200	L230*	probably null	Het
Lce1e	C	T	3: 92,707,830	C70Y	unknown	Het
Ltbp2	T	C	12: 84,803,864	N892S	probably damaging	Het
Mfsd4b5	T	A	10: 39,970,574	M337L	probably damaging	Het
Noxo1	T	A	17: 24,699,357	C164S	probably damaging	Het
Olfr10	G	T	11: 49,318,087	M180I	probably benign	Het
Olfr1052	G	A	2: 86,297,914	V33M	probably benign	Het
Osbpl6	T	C	2: 76,524,085	S15P	probably benign	Het
Pcdh17	A	G	14: 84,533,310	Y1076C	probably benign	Het
Pik3c2a	T	A	7: 116,348,274	H1391L	probably damaging	Het
Plcg2	A	G	8: 117,590,003	Y573C	probably benign	Het
Prpf3	T	A	3: 95,833,797	H600L	probably benign	Het
Rilpl2	T	C	5: 124,469,813	T115A	probably benign	Het
Serpini1	T	C	3: 75,616,660	S192P	probably damaging	Het
Sp110	G	T	1: 85,596,055	Y18*	probably null	Het
Stard6	A	T	18: 70,496,222	I126F	probably damaging	Het
Strip2	T	A	6: 29,945,593	L660H	probably damaging	Het
Tmed3	G	A	9: 89,699,772	R213*	probably null	Het
Tns1	G	T	1: 73,952,940	P860T	probably damaging	Het
Togaram1	T	C	12: 64,983,403	S994P	probably benign	Het
Tomm34	G	A	2: 164,070,896		probably benign	Het
Trank1	G	A	9: 111,389,221	E1890K	probably damaging	Het
Wasf3	C	T	5: 146,461,097	H225Y	probably benign	Het
Wdr37	A	T	13: 8,847,674		probably null	Het
Zbtb7c	A	C	18: 76,137,342	D167A	probably benign	Het
Zkscan4	A	G	13: 21,481,328	T158A	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
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'- TGTGCAGGTATCCATTCCCC -3'
(R):5'- AAACCTGAATTGCTCCAGAGG -3'

Sequencing Primer
(F):5'- TTCCCCTGGCTTCAGATTAAAAAC -3'
(R):5'- TGAATTGCTCCAGAGGATTTAATTTC -3'

Posted On

2017-02-02