Mutagenetix > Incidental Mutation

Incidental Mutation 'R6625:Fam162b'

524744

Institutional Source

Beutler Lab

Gene Symbol

Fam162b

Ensembl Gene

ENSMUSG00000019909

Gene Name

family with sequence similarity 162, member B

Synonyms

9430073N08Rik

MMRRC Submission

044747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6625 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

51461512-51466613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51466391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 43 (G43R)

Ref Sequence

ENSEMBL: ENSMUSP00000020064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020064]

AlphaFold

Q9CX19

Predicted Effect

probably damaging
Transcript: ENSMUST00000020064
AA Change: G43R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020064
Gene: ENSMUSG00000019909
AA Change: G43R

Domain	Start	End	E-Value	Type
Pfam:DUF1075	15	154	3.8e-56	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

91% (30/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Apcdd1	C	A	18: 63,084,929 (GRCm39)	D375E	probably damaging	Het
Cacna2d1	A	T	5: 16,567,391 (GRCm39)	R984W	probably null	Het
Csmd3	T	G	15: 47,470,471 (GRCm39)	I3402L	probably benign	Het
Dnah7a	T	A	1: 53,604,916 (GRCm39)	T1281S	probably benign	Het
Dnmt3b	T	C	2: 153,507,233 (GRCm39)	I139T	probably benign	Het
Dtnbp1	T	C	13: 45,145,507 (GRCm39)	E40G	possibly damaging	Het
G2e3	T	G	12: 51,400,572 (GRCm39)		probably null	Het
Kiss1r	G	A	10: 79,755,368 (GRCm39)	V118I	possibly damaging	Het
Mre11a	T	C	9: 14,716,687 (GRCm39)	M294T	possibly damaging	Het
Muc16	A	T	9: 18,571,574 (GRCm39)	V315D	unknown	Het
Nelfe	C	T	17: 35,073,334 (GRCm39)	P290S	probably benign	Het
Or2v2	T	A	11: 49,003,896 (GRCm39)	Y219F	probably damaging	Het
Or5a3	T	G	19: 12,400,205 (GRCm39)	H177Q	probably damaging	Het
Pcolce2	T	A	9: 95,560,492 (GRCm39)	C180*	probably null	Het
Piezo2	A	T	18: 63,154,333 (GRCm39)	V2482D	probably damaging	Het
Plagl1	T	C	10: 13,003,806 (GRCm39)		probably benign	Het
Pramel31	T	A	4: 144,090,369 (GRCm39)	Y470N	probably damaging	Het
Pramel57	C	T	5: 95,669,342 (GRCm39)	H124Y	possibly damaging	Het
Prss48	G	T	3: 85,905,373 (GRCm39)	Q167K	probably benign	Het
Saxo4	G	A	19: 10,459,100 (GRCm39)	P65L	probably damaging	Het
Scyl1	C	A	19: 5,810,854 (GRCm39)	V488F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,372,594 (GRCm39)	L587Q	possibly damaging	Het
Sim1	A	G	10: 50,860,082 (GRCm39)	D648G	probably benign	Het
Snupn	G	A	9: 56,890,054 (GRCm39)	V292I	probably benign	Het
St6galnac1	T	C	11: 116,656,717 (GRCm39)	H474R	probably damaging	Het
Thap12	G	A	7: 98,365,277 (GRCm39)	V482I	probably benign	Het
Usp13	T	A	3: 32,949,025 (GRCm39)	V454D	probably damaging	Het
Usp40	T	C	1: 87,894,935 (GRCm39)	I862V	probably benign	Het
Vmn2r59	A	T	7: 41,693,177 (GRCm39)	F474L	probably benign	Het
Zbtb38	T	C	9: 96,569,366 (GRCm39)	R573G	probably damaging	Het
Zfp493	C	T	13: 67,934,514 (GRCm39)	Q156*	probably null	Het
Zfp873	C	A	10: 81,896,138 (GRCm39)	P290T	probably damaging	Het

Other mutations in Fam162b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Fam162b	APN	10	51,466,390 (GRCm39)	missense	possibly damaging	0.94
IGL02948:Fam162b	APN	10	51,463,392 (GRCm39)	missense	probably damaging	1.00
R0709:Fam162b	UTSW	10	51,463,347 (GRCm39)	missense	probably damaging	1.00
R1185:Fam162b	UTSW	10	51,466,439 (GRCm39)	missense	probably benign
R1185:Fam162b	UTSW	10	51,466,439 (GRCm39)	missense	probably benign
R1185:Fam162b	UTSW	10	51,466,439 (GRCm39)	missense	probably benign
R1505:Fam162b	UTSW	10	51,463,298 (GRCm39)	missense	probably damaging	1.00
R1735:Fam162b	UTSW	10	51,463,307 (GRCm39)	missense	probably damaging	1.00
R1961:Fam162b	UTSW	10	51,466,430 (GRCm39)	missense	probably benign	0.00
R2401:Fam162b	UTSW	10	51,463,314 (GRCm39)	missense	probably damaging	0.99
R6059:Fam162b	UTSW	10	51,466,403 (GRCm39)	missense	probably benign	0.28
R6196:Fam162b	UTSW	10	51,463,506 (GRCm39)	splice site	probably null
R6284:Fam162b	UTSW	10	51,461,598 (GRCm39)	missense	probably damaging	0.99
R7324:Fam162b	UTSW	10	51,466,282 (GRCm39)	splice site	probably null
R7380:Fam162b	UTSW	10	51,466,572 (GRCm39)	start gained	probably benign
R8945:Fam162b	UTSW	10	51,466,469 (GRCm39)	missense	probably benign	0.02
R9415:Fam162b	UTSW	10	51,466,155 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGATTTGAAACGCCCGGTCC -3'
(R):5'- TCAGCATCCAGGATCAGGAG -3'

Sequencing Primer
(F):5'- CCGGTCCAAAGCAGAATTTTCTTG -3'
(R):5'- TCCAGGATCAGGAGGAGGCC -3'

Posted On

2018-06-22