Mutagenetix > Incidental Mutation

Incidental Mutation 'R2362:Fam160b2'

247197

Institutional Source

Beutler Lab

Gene Symbol

Fam160b2

Ensembl Gene

ENSMUSG00000022095

Gene Name

family with sequence similarity 160, member B2

Synonyms

Rai16, G430067P06Rik

MMRRC Submission

040343-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70583296-70599835 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70586365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 568 (Y568H)

Ref Sequence

ENSEMBL: ENSMUSP00000022690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022690] [ENSMUST00000089049] [ENSMUST00000228554]

AlphaFold

Q80YR2

Predicted Effect

probably benign
Transcript: ENSMUST00000022690
AA Change: Y568H

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: Y568H

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	79	477	7.7e-112	PFAM
low complexity region	516	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089049

SMART Domains

Protein: ENSMUSP00000086450
Gene: ENSMUSG00000045211

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:NUDIX	44	165	2.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228554

Meta Mutation Damage Score

0.0651

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Ccdc30	T	A	4: 119,324,056	N636I	probably damaging	Het
Cdr2	T	G	7: 120,970,331	I62L	possibly damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,162,796	E45V	probably damaging	Het
Cyp2b19	A	G	7: 26,764,377	Y318C	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Macc1	T	C	12: 119,447,658		probably benign	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Polr3e	C	G	7: 120,942,564	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Slc10a7	A	G	8: 78,509,632	I20V	probably damaging	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,236,354	V328I	probably benign	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	Het

Other mutations in Fam160b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Fam160b2	APN	14	70585373	missense	probably damaging	1.00
IGL01862:Fam160b2	APN	14	70587690	missense	probably benign	0.03
IGL02306:Fam160b2	APN	14	70588997	missense	probably benign
IGL02534:Fam160b2	APN	14	70585688	missense	probably damaging	0.98
IGL02534:Fam160b2	APN	14	70586190	missense	probably benign
IGL03071:Fam160b2	APN	14	70586209	missense	probably damaging	1.00
IGL03162:Fam160b2	APN	14	70587554	missense	probably damaging	1.00
IGL03166:Fam160b2	APN	14	70590176	missense	probably damaging	1.00
IGL03134:Fam160b2	UTSW	14	70588709	missense	possibly damaging	0.66
R0043:Fam160b2	UTSW	14	70588661	missense	probably benign	0.45
R0628:Fam160b2	UTSW	14	70587721	missense	possibly damaging	0.48
R0691:Fam160b2	UTSW	14	70588287	missense	probably damaging	1.00
R1680:Fam160b2	UTSW	14	70586851	missense	probably damaging	1.00
R1727:Fam160b2	UTSW	14	70593998	missense	probably damaging	0.98
R2059:Fam160b2	UTSW	14	70585049	missense	possibly damaging	0.54
R3423:Fam160b2	UTSW	14	70586585	missense	probably damaging	1.00
R4233:Fam160b2	UTSW	14	70586878	missense	probably damaging	0.99
R4770:Fam160b2	UTSW	14	70588287	missense	probably damaging	1.00
R5903:Fam160b2	UTSW	14	70591681	missense	probably damaging	1.00
R6217:Fam160b2	UTSW	14	70591758	splice site	probably null
R6665:Fam160b2	UTSW	14	70585638	missense	probably damaging	1.00
R7424:Fam160b2	UTSW	14	70594007	missense	probably damaging	1.00
R9176:Fam160b2	UTSW	14	70589100	missense	probably benign	0.40
R9393:Fam160b2	UTSW	14	70594023	nonsense	probably null
R9486:Fam160b2	UTSW	14	70589039	missense	probably benign	0.00
R9529:Fam160b2	UTSW	14	70585139	missense	probably damaging	1.00
R9610:Fam160b2	UTSW	14	70586818	missense	probably benign	0.44
R9611:Fam160b2	UTSW	14	70586818	missense	probably benign	0.44
R9646:Fam160b2	UTSW	14	70590368	missense	probably damaging	0.99
R9699:Fam160b2	UTSW	14	70587739	missense	possibly damaging	0.90
R9760:Fam160b2	UTSW	14	70590181	missense	possibly damaging	0.94
Z1176:Fam160b2	UTSW	14	70586204	missense	not run
Z1177:Fam160b2	UTSW	14	70586204	missense	not run

Predicted Primers

PCR Primer
(F):5'- CCTTTCAGGCTCATGAGAGTC -3'
(R):5'- GGCAGTTGGAGTCACCTGAATC -3'

Sequencing Primer
(F):5'- CTCATGAGAGTCCAAGGGC -3'
(R):5'- CAGTTGGAGTCACCTGAATCATATTC -3'

Posted On

2014-10-30