Mutagenetix > Incidental Mutation

Incidental Mutation 'R7301:Fam186b'

567013

Institutional Source

Beutler Lab

Gene Symbol

Fam186b

Ensembl Gene

ENSMUSG00000078907

Gene Name

family with sequence similarity 186, member B

Synonyms

EG545136

MMRRC Submission

045405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99168899-99193769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99176629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 754 (R754G)

Ref Sequence

ENSEMBL: ENSMUSP00000104728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109100] [ENSMUST00000230608]

AlphaFold

D3Z420

Predicted Effect

probably benign
Transcript: ENSMUST00000109100
AA Change: R754G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: R754G

Domain	Start	End	E-Value	Type
Blast:FBG	12	193	1e-19	BLAST
low complexity region	354	363	N/A	INTRINSIC
low complexity region	478	493	N/A	INTRINSIC
low complexity region	508	522	N/A	INTRINSIC
low complexity region	789	810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230608

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,376,308 (GRCm39)	S345N	possibly damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,488,624 (GRCm39)	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,689,940 (GRCm39)	Y493F	probably benign	Het
Atxn2l	G	T	7: 126,093,383 (GRCm39)	Y791*	probably null	Het
Cacng8	C	A	7: 3,463,937 (GRCm39)	T363K	probably benign	Het
Camkmt	A	G	17: 85,738,921 (GRCm39)	T216A	probably benign	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cnppd1	A	G	1: 75,113,068 (GRCm39)	L400P	probably damaging	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Dpyd	T	C	3: 118,692,933 (GRCm39)	V359A	possibly damaging	Het
Dscam	T	C	16: 96,857,732 (GRCm39)	T93A	probably benign	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Entpd2	T	A	2: 25,290,921 (GRCm39)	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,128,060 (GRCm39)	Q715K	probably benign	Het
Fcgbp	T	A	7: 27,792,861 (GRCm39)	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,689,212 (GRCm39)	V361A	possibly damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Greb1l	C	G	18: 10,544,970 (GRCm39)	Q1433E	probably damaging	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-58	A	T	12: 115,275,915 (GRCm39)	N74K	probably benign	Het
Il12rb1	A	G	8: 71,266,343 (GRCm39)	I229M	possibly damaging	Het
Il17rd	T	C	14: 26,798,348 (GRCm39)	I56T	possibly damaging	Het
Itpr1	T	C	6: 108,518,985 (GRCm39)	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Lmf2	C	A	15: 89,239,733 (GRCm39)		probably benign	Het
Lrrc3b	T	C	14: 15,357,934 (GRCm38)	Y224C	probably damaging	Het
Med1	A	C	11: 98,043,634 (GRCm39)	F599C	probably benign	Het
Mrgprb4	A	G	7: 47,848,506 (GRCm39)	S141P	probably damaging	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,436,504 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Nqo1	A	G	8: 108,119,280 (GRCm39)	I99T	probably damaging	Het
Or1j17	T	A	2: 36,578,023 (GRCm39)	M3K	probably benign	Het
Or6c2b	T	C	10: 128,947,568 (GRCm39)	H242R	probably damaging	Het
Pabir1	T	A	19: 24,454,488 (GRCm39)	H78L	probably benign	Het
Pabir1	T	A	19: 24,454,710 (GRCm39)	E4V	probably damaging	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Plpp7	T	G	2: 31,986,067 (GRCm39)	F82V	probably benign	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,128,739 (GRCm39)	W64R	probably damaging	Het
Rilp	G	T	11: 75,400,942 (GRCm39)		probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Slc27a4	C	T	2: 29,702,944 (GRCm39)	T591I	probably null	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Spata31f1e	T	C	4: 42,792,923 (GRCm39)	N403S	possibly damaging	Het
Sptbn1	A	T	11: 30,067,798 (GRCm39)	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Synpo2	A	C	3: 122,907,702 (GRCm39)	M538R	probably benign	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,052,978 (GRCm39)	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	probably benign	Het

Other mutations in Fam186b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Fam186b	APN	15	99,178,199 (GRCm39)	missense	probably benign	0.00
IGL01729:Fam186b	APN	15	99,178,132 (GRCm39)	missense	probably benign	0.02
IGL01948:Fam186b	APN	15	99,178,327 (GRCm39)	missense	probably benign	0.00
IGL02133:Fam186b	APN	15	99,171,584 (GRCm39)	missense	probably damaging	0.96
IGL03010:Fam186b	APN	15	99,178,508 (GRCm39)	missense	possibly damaging	0.80
IGL03371:Fam186b	APN	15	99,178,258 (GRCm39)	missense	probably benign	0.00
R0457:Fam186b	UTSW	15	99,169,166 (GRCm39)	missense	probably benign	0.02
R0522:Fam186b	UTSW	15	99,178,400 (GRCm39)	missense	probably benign	0.00
R0571:Fam186b	UTSW	15	99,184,834 (GRCm39)	missense	probably benign	0.02
R0620:Fam186b	UTSW	15	99,178,009 (GRCm39)	missense	probably benign	0.34
R1575:Fam186b	UTSW	15	99,184,852 (GRCm39)	missense	probably benign	0.00
R1883:Fam186b	UTSW	15	99,176,679 (GRCm39)	missense	probably damaging	0.96
R2144:Fam186b	UTSW	15	99,178,538 (GRCm39)	missense	probably benign	0.00
R2267:Fam186b	UTSW	15	99,183,524 (GRCm39)	missense	probably damaging	0.99
R2332:Fam186b	UTSW	15	99,178,309 (GRCm39)	missense	probably benign	0.42
R2394:Fam186b	UTSW	15	99,178,058 (GRCm39)	missense	probably benign	0.01
R3624:Fam186b	UTSW	15	99,178,396 (GRCm39)	missense	probably benign	0.01
R4681:Fam186b	UTSW	15	99,178,771 (GRCm39)	missense	probably benign	0.00
R4811:Fam186b	UTSW	15	99,178,118 (GRCm39)	missense	probably benign	0.01
R4906:Fam186b	UTSW	15	99,169,202 (GRCm39)	missense	probably damaging	0.99
R5028:Fam186b	UTSW	15	99,178,682 (GRCm39)	missense	probably damaging	0.99
R5047:Fam186b	UTSW	15	99,178,567 (GRCm39)	missense	probably damaging	1.00
R5295:Fam186b	UTSW	15	99,181,755 (GRCm39)	missense	probably damaging	1.00
R5440:Fam186b	UTSW	15	99,171,734 (GRCm39)	missense	possibly damaging	0.75
R5468:Fam186b	UTSW	15	99,176,751 (GRCm39)	missense	possibly damaging	0.93
R5596:Fam186b	UTSW	15	99,169,170 (GRCm39)	missense	possibly damaging	0.90
R5759:Fam186b	UTSW	15	99,177,598 (GRCm39)	missense	probably benign	0.09
R6239:Fam186b	UTSW	15	99,178,315 (GRCm39)	missense	probably benign
R7117:Fam186b	UTSW	15	99,183,471 (GRCm39)	missense	probably damaging	0.98
R7141:Fam186b	UTSW	15	99,181,773 (GRCm39)	missense	probably benign	0.03
R7223:Fam186b	UTSW	15	99,177,718 (GRCm39)	missense	possibly damaging	0.77
R7441:Fam186b	UTSW	15	99,177,970 (GRCm39)	missense	probably benign	0.00
R7614:Fam186b	UTSW	15	99,184,867 (GRCm39)	missense	probably damaging	1.00
R7825:Fam186b	UTSW	15	99,181,728 (GRCm39)	missense	not run
R7853:Fam186b	UTSW	15	99,178,628 (GRCm39)	missense	probably damaging	1.00
R8340:Fam186b	UTSW	15	99,177,595 (GRCm39)	missense	probably benign	0.02
R8523:Fam186b	UTSW	15	99,177,613 (GRCm39)	missense	probably benign	0.00
R8821:Fam186b	UTSW	15	99,178,733 (GRCm39)	missense	possibly damaging	0.69
R8939:Fam186b	UTSW	15	99,177,223 (GRCm39)	missense	probably benign	0.00
R9016:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9018:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9305:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9341:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9343:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9343:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9345:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9346:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9450:Fam186b	UTSW	15	99,183,425 (GRCm39)	missense	probably damaging	0.97
R9464:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9517:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9521:Fam186b	UTSW	15	99,178,419 (GRCm39)	missense	probably benign	0.00
R9563:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9565:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9565:Fam186b	UTSW	15	99,176,685 (GRCm39)	missense	probably damaging	1.00
R9568:Fam186b	UTSW	15	99,176,571 (GRCm39)	missense	probably damaging	1.00
R9652:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9653:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9727:Fam186b	UTSW	15	99,171,669 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATTACACACTGGGCAGTTGC -3'
(R):5'- TCAACTGACTCAGGGTAGGAGG -3'

Sequencing Primer
(F):5'- GCAGTTGCCCTCCCTCAC -3'
(R):5'- TGGTGGTAGGGAAGTCTCTC -3'

Posted On

2019-06-26