Mutagenetix > Incidental Mutation

Incidental Mutation 'R7795:Fam50b'

600188

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

045851-MU

Accession Numbers

Essential gene?

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

Stock #

R7795 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34918833-34931605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34931084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 187 (E187K)

Ref Sequence

ENSEMBL: ENSMUSP00000152187 (fasta)

Gene Model

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

AlphaFold

Q9WTJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039605
AA Change: E187K

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046980
Gene: ENSMUSG00000038246
AA Change: E187K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221037
AA Change: E187K

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1571

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle1	T	C	8: 71,861,337 (GRCm39)	S391P	probably damaging	Het
Ankmy1	T	C	1: 92,811,570 (GRCm39)	Q606R	probably benign	Het
Bmf	A	G	2: 118,377,358 (GRCm39)	L130P	probably damaging	Het
Ccdc88c	G	A	12: 100,889,570 (GRCm39)	T1491I	probably benign	Het
Cyp2c69	G	A	19: 39,864,663 (GRCm39)	R272C	probably benign	Het
Defa27	A	G	8: 21,806,354 (GRCm39)	N78S	probably benign	Het
Depdc5	T	A	5: 33,101,447 (GRCm39)	D912E	probably damaging	Het
Dsc3	C	T	18: 20,099,288 (GRCm39)	D743N	probably damaging	Het
Epcam	T	C	17: 87,950,983 (GRCm39)	V190A	probably benign	Het
Exoc2	G	A	13: 31,060,756 (GRCm39)	R583*	probably null	Het
Extl1	T	A	4: 134,091,990 (GRCm39)	I288F	probably damaging	Het
Fcer2a	T	A	8: 3,732,910 (GRCm39)	Y299F	probably benign	Het
Frmd4a	G	A	2: 4,595,506 (GRCm39)	G439R	probably damaging	Het
Gal3st4	T	C	5: 138,269,100 (GRCm39)	H120R	probably benign	Het
Grid1	C	A	14: 35,043,642 (GRCm39)	N332K	probably damaging	Het
Igkv4-68	A	G	6: 69,281,896 (GRCm39)	Y92H	probably damaging	Het
Itga1	T	C	13: 115,148,772 (GRCm39)	E283G	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrc24	A	G	15: 76,602,248 (GRCm39)	L169P	probably benign	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mettl8	T	C	2: 70,812,243 (GRCm39)	T131A	probably benign	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Nbr1	T	A	11: 101,460,154 (GRCm39)	D383E	probably damaging	Het
Neto1	A	T	18: 86,479,198 (GRCm39)	K167N	probably benign	Het
Nkx6-1	A	T	5: 101,811,628 (GRCm39)	L158Q	unknown	Het
Nlrp5	G	A	7: 23,118,219 (GRCm39)	V648M	possibly damaging	Het
Nvl	G	T	1: 180,924,722 (GRCm39)	Q811K	probably benign	Het
Or13a21	A	G	7: 139,999,027 (GRCm39)	F220L	possibly damaging	Het
Or13p3	C	A	4: 118,566,855 (GRCm39)	H84N	possibly damaging	Het
Or1j10	A	G	2: 36,267,453 (GRCm39)	T222A	probably benign	Het
Or3a1c	T	A	11: 74,046,844 (GRCm39)	L288Q	probably damaging	Het
Pccb	T	C	9: 100,881,316 (GRCm39)	Y224C	probably damaging	Het
Pcdh10	T	C	3: 45,334,657 (GRCm39)	Y324H	probably benign	Het
Pecam1	C	A	11: 106,586,658 (GRCm39)	E286*	probably null	Het
Prl7d1	A	T	13: 27,893,263 (GRCm39)	L215Q	probably damaging	Het
Ranbp2	T	A	10: 58,319,729 (GRCm39)	Y2514*	probably null	Het
Rgs11	A	G	17: 26,426,552 (GRCm39)	H261R	possibly damaging	Het
Samd15	A	G	12: 87,247,506 (GRCm39)	T64A	probably benign	Het
Shc4	T	A	2: 125,565,285 (GRCm39)	S5C	probably damaging	Het
Shroom3	G	A	5: 93,067,508 (GRCm39)	V109M	probably damaging	Het
Spata13	T	C	14: 60,929,291 (GRCm39)	I283T	possibly damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Synj2bp	G	A	12: 81,548,922 (GRCm39)	P106S	probably benign	Het
Tasor	T	C	14: 27,203,340 (GRCm39)	S289P		Het
Thoc1	T	C	18: 9,986,300 (GRCm39)	V344A	probably damaging	Het
Vmn1r71	A	G	7: 10,482,136 (GRCm39)	L184S	probably damaging	Het
Vps45	A	G	3: 95,926,936 (GRCm39)	I537T	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
R3726:Fam50b	UTSW	13	34,930,869 (GRCm39)	missense	probably damaging	0.96
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
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'- CTGTCTTTCACGTTGGACGAG -3'
(R):5'- GGATGAGATCCTCCTTGACG -3'

Sequencing Primer
(F):5'- TTTCACGTTGGACGAGGAAGAAG -3'
(R):5'- GAGATCCTCCTTGACGTACATGAG -3'

Posted On

2019-11-26