Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01948:Fam186b'

180984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam186b

Ensembl Gene

ENSMUSG00000078907

Gene Name

family with sequence similarity 186, member B

Synonyms

EG545136

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01948

Quality Score

Status

Chromosome

Chromosomal Location

99168899-99193769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99178327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 333 (H333R)

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: H333R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: H333R

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

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	C	5: 3,627,326 (GRCm39)	F101L	probably damaging	Het
Cacna1d	T	C	14: 29,846,751 (GRCm39)	T552A	probably damaging	Het
Ccdc81	T	C	7: 89,525,063 (GRCm39)	D506G	possibly damaging	Het
Fam222b	T	C	11: 78,045,165 (GRCm39)	V242A	probably damaging	Het
Gabra2	A	G	5: 71,119,228 (GRCm39)	F425L	probably damaging	Het
Gm10717	A	T	9: 3,025,819 (GRCm39)	T135S	probably damaging	Het
Gm8104	A	T	14: 42,966,607 (GRCm39)	M120L	probably benign	Het
Gsdmc	T	C	15: 63,650,430 (GRCm39)	D308G	probably damaging	Het
Hook3	T	A	8: 26,549,340 (GRCm39)	E168V	possibly damaging	Het
Ighv5-17	T	A	12: 113,823,046 (GRCm39)	E25V	probably damaging	Het
Imp4	T	G	1: 34,483,356 (GRCm39)		probably benign	Het
Ms4a5	A	C	19: 11,256,717 (GRCm39)	M60R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Prokr2	G	T	2: 132,215,603 (GRCm39)	A286E	probably damaging	Het
Ranbp9	T	A	13: 43,576,029 (GRCm39)	Q226L	probably damaging	Het
Scara3	A	G	14: 66,168,261 (GRCm39)	V452A	probably damaging	Het
Tmem38b	C	T	4: 53,850,530 (GRCm39)	P171S	probably damaging	Het
Zdhhc17	G	T	10: 110,782,137 (GRCm39)	T519K	possibly damaging	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
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
R7301:Fam186b	UTSW	15	99,176,629 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-05-07