Mutagenetix > Incidental Mutation

Incidental Mutation 'R3726:Fam50b'

270806

Institutional Source

Beutler Lab

Gene Symbol

Fam50b

Ensembl Gene

ENSMUSG00000038246

Gene Name

family with sequence similarity 50, member B

Synonyms

XAP-5-like, D0H6S2654E, X5L

MMRRC Submission

040717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R3726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34918833-34931605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34930869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 115 (R115H)

Ref Sequence

ENSEMBL: ENSMUSP00000152187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039605] [ENSMUST00000221037]

AlphaFold

Q9WTJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039605
AA Change: R115H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046980
Gene: ENSMUSG00000038246
AA Change: R115H

Domain	Start	End	E-Value	Type
coiled coil region	9	45	N/A	INTRINSIC
Pfam:XAP5	110	333	2.7e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221037
AA Change: R115H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.4360

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402K13Rik	AGAGGAG	AGAG	X: 8,971,342 (GRCm39)		probably benign	Het
Caap1	A	T	4: 94,389,380 (GRCm39)	V318D	probably damaging	Het
Camsap3	T	C	8: 3,653,785 (GRCm39)	L485P	probably damaging	Het
Ccsap	T	C	8: 124,586,100 (GRCm39)	E17G	possibly damaging	Het
Cdk5rap2	C	A	4: 70,153,674 (GRCm39)	K1716N	possibly damaging	Het
Coq3	T	C	4: 21,892,941 (GRCm39)		probably benign	Het
Daam2	T	A	17: 49,776,766 (GRCm39)	D773V	probably damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fam209	T	C	2: 172,315,915 (GRCm39)	S97P	probably benign	Het
Fbxo31	A	G	8: 122,305,248 (GRCm39)	F83L	probably damaging	Het
Fsip2	G	T	2: 82,819,311 (GRCm39)	A5015S	possibly damaging	Het
Galnt13	A	G	2: 54,988,669 (GRCm39)	H497R	probably damaging	Het
Ggnbp2	A	G	11: 84,744,920 (GRCm39)	C201R	possibly damaging	Het
Gm8730	T	C	8: 103,591,664 (GRCm39)		noncoding transcript	Het
Gsr	A	G	8: 34,161,565 (GRCm39)	K124R	probably benign	Het
Hdgf	T	C	3: 87,821,804 (GRCm39)	S140P	probably benign	Het
Iqcg	C	T	16: 32,849,411 (GRCm39)	E292K	probably damaging	Het
Lamb1	C	T	12: 31,371,074 (GRCm39)	A1375V	probably null	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lonp1	A	G	17: 56,925,310 (GRCm39)		probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Or6c212	A	T	10: 129,558,984 (GRCm39)	V143D	probably damaging	Het
Pcdhb9	T	C	18: 37,534,654 (GRCm39)	L216P	possibly damaging	Het
Ppp3cb	A	G	14: 20,581,010 (GRCm39)		probably null	Het
Ptprm	G	A	17: 67,263,855 (GRCm39)	P464L	possibly damaging	Het
Rars2	A	G	4: 34,645,787 (GRCm39)	T235A	probably benign	Het
Rimkla	A	T	4: 119,334,986 (GRCm39)		probably null	Het
Rnf216	A	T	5: 143,013,701 (GRCm39)	I708N	probably damaging	Het
Six5	T	A	7: 18,830,855 (GRCm39)	V494E	possibly damaging	Het
Slc43a2	A	G	11: 75,433,980 (GRCm39)		probably benign	Het
Slmap	C	A	14: 26,148,397 (GRCm39)	R671S	probably damaging	Het
Smarcal1	T	C	1: 72,665,755 (GRCm39)	F751S	possibly damaging	Het
Sptan1	G	A	2: 29,908,431 (GRCm39)	D1711N	possibly damaging	Het
Sptssa	T	C	12: 54,703,180 (GRCm39)	E30G	probably damaging	Het
Taf1c	A	G	8: 120,329,809 (GRCm39)	F111L	probably damaging	Het
Thbs1	A	G	2: 117,945,191 (GRCm39)	I255V	probably benign	Het
Tmem19	A	G	10: 115,195,675 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmod1	T	C	4: 46,097,026 (GRCm39)	V273A	probably benign	Het
Trpm8	A	T	1: 88,255,918 (GRCm39)	Y191F	probably benign	Het
Ube4a	T	C	9: 44,844,621 (GRCm39)	I934V	probably damaging	Het
Vpreb3	G	A	10: 75,779,125 (GRCm39)		probably null	Het
Vwf	G	T	6: 125,654,911 (GRCm39)		probably benign	Het
Wdr53	T	C	16: 32,075,538 (GRCm39)	C248R	probably benign	Het
Zfp217	A	G	2: 169,961,130 (GRCm39)	V399A	probably damaging	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het

Other mutations in Fam50b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
G1citation:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R0395:Fam50b	UTSW	13	34,931,220 (GRCm39)	missense	probably damaging	1.00
R2276:Fam50b	UTSW	13	34,930,823 (GRCm39)	nonsense	probably null
R2279:Fam50b	UTSW	13	34,930,823 (GRCm39)	nonsense	probably null
R6330:Fam50b	UTSW	13	34,930,652 (GRCm39)	missense	probably benign	0.01
R6820:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R6822:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R6824:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R7019:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R7193:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R7795:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R7796:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R7797:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R7871:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R7880:Fam50b	UTSW	13	34,930,802 (GRCm39)	missense	probably benign	0.01
R7920:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R7921:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R8081:Fam50b	UTSW	13	34,931,084 (GRCm39)	missense	possibly damaging	0.89
R8175:Fam50b	UTSW	13	34,930,847 (GRCm39)	missense	probably benign
R8443:Fam50b	UTSW	13	34,930,856 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTGAAGTCCAGTACGGTG -3'
(R):5'- AGTAGCTGAAGGTGATCTCCAC -3'

Sequencing Primer
(F):5'- GGGCCTGGTGACCCTGAATG -3'
(R):5'- TCGCGCAACCGGTTCTC -3'

Posted On

2015-03-18