Mutagenetix > Incidental Mutation

Incidental Mutation 'R6822:Fam50b'

537685

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

044934-MU

Accession Numbers

Essential gene?

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

Stock #

R6822 (G1)

Quality Score

225.009

Status

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: 99.6%
20x: 98.7%

Validation Efficiency

94% (46/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	G	A	11: 102,667,501 (GRCm39)	R687Q	possibly damaging	Het
AI987944	A	G	7: 41,024,232 (GRCm39)	L249P	probably damaging	Het
Ankrd28	T	A	14: 31,458,797 (GRCm39)		probably null	Het
Bahcc1	T	C	11: 120,178,547 (GRCm39)	S2369P	probably damaging	Het
Birc6	T	C	17: 74,887,377 (GRCm39)	S902P	possibly damaging	Het
Birc6	A	T	17: 74,905,039 (GRCm39)	K1277N	probably damaging	Het
Brwd1	T	C	16: 95,842,474 (GRCm39)	E821G	probably benign	Het
Cct8l1	T	C	5: 25,722,937 (GRCm39)	S551P	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cyp2c39	A	T	19: 39,525,261 (GRCm39)	D188V	probably damaging	Het
Dclk3	G	T	9: 111,268,405 (GRCm39)	A25S	probably benign	Het
Dpep2	A	T	8: 106,711,873 (GRCm39)	M518K	probably benign	Het
Dst	T	C	1: 34,314,755 (GRCm39)	V6462A	probably damaging	Het
Entpd3	T	C	9: 120,391,104 (GRCm39)		probably null	Het
Epm2aip1	T	C	9: 111,101,624 (GRCm39)	V199A	probably damaging	Het
Fam193b	A	G	13: 55,689,504 (GRCm39)		probably benign	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fcgbp	T	A	7: 27,806,781 (GRCm39)	Y2250N	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
H2-Aa	C	T	17: 34,506,651 (GRCm39)		probably null	Het
Igsf9	T	A	1: 172,324,730 (GRCm39)	S883T	possibly damaging	Het
Kcnh7	T	G	2: 62,618,248 (GRCm39)	I414L	probably damaging	Het
Kcnma1	T	C	14: 24,053,812 (GRCm39)		probably null	Het
Kcnmb1	T	C	11: 33,914,686 (GRCm39)		probably benign	Het
Kmt2d	A	G	15: 98,747,340 (GRCm39)		probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Map3k13	G	A	16: 21,741,013 (GRCm39)	S780N	probably benign	Het
Nlgn1	T	C	3: 26,187,796 (GRCm39)	T30A	probably benign	Het
Nucb1	A	G	7: 45,148,289 (GRCm39)	F175L	probably damaging	Het
Pax6	T	A	2: 105,516,268 (GRCm39)	V182E	probably benign	Het
Ptger1	A	G	8: 84,395,279 (GRCm39)	D252G	probably benign	Het
Rexo4	T	C	2: 26,850,283 (GRCm39)	D275G	probably damaging	Het
Ripk4	T	C	16: 97,547,236 (GRCm39)	D342G	probably damaging	Het
Rpl10l	A	T	12: 66,330,987 (GRCm39)	C49S	possibly damaging	Het
Sema7a	T	C	9: 57,867,619 (GRCm39)	F457S	probably damaging	Het
Shank3	G	A	15: 89,415,830 (GRCm39)	D155N	probably damaging	Het
Smpd3	G	A	8: 106,992,596 (GRCm39)		probably benign	Het
Smpd4	T	C	16: 17,458,097 (GRCm39)	V465A	probably damaging	Het
Sohlh2	T	C	3: 55,115,107 (GRCm39)	V364A	probably damaging	Het
Sos2	C	T	12: 69,697,423 (GRCm39)	R99Q	probably damaging	Het
Spry2	G	A	14: 106,130,791 (GRCm39)	Q132*	probably null	Het
Tbx19	G	T	1: 164,967,709 (GRCm39)	P346Q	probably damaging	Het
Tdrd6	A	G	17: 43,938,106 (GRCm39)	Y981H	probably damaging	Het
Tinag	T	C	9: 76,938,984 (GRCm39)	K165E	probably benign	Het
Tubb4a	A	T	17: 57,387,904 (GRCm39)	I374N	probably damaging	Het
Umodl1	C	T	17: 31,205,528 (GRCm39)	Q708*	probably null	Het
Vmn2r3	A	T	3: 64,194,876 (GRCm39)	V14E	probably benign	Het
Zfp82	G	A	7: 29,755,712 (GRCm39)	L457F	probably damaging	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
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'- AGCGCAAGATCTCCAACCTG -3'
(R):5'- ACGTACATGAGCTGCTCCAC -3'

Sequencing Primer
(F):5'- ACCTGTCTTTCACGTTGGACGAG -3'
(R):5'- TTCAGGAACTGCTGCAC -3'

Posted On

2018-10-18