Mutagenetix > Incidental Mutations

Incidental Mutation 'R7025:Fam198b'

545893

Institutional Source

Beutler Lab

Gene Symbol

Fam198b

Ensembl Gene

ENSMUSG00000027955

Gene Name

family with sequence similarity 198, member B

Synonyms

2210419I08Rik, 1110032E23Rik, Ened

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_133187.3; MGI:1915909

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79884533-79946280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79886548 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 108 (Y108H)

Ref Sequence

ENSEMBL: ENSMUSP00000114093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029567] [ENSMUST00000118853] [ENSMUST00000135021] [ENSMUST00000145992]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029567
AA Change: Y108H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: Y108H

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
Pfam:FAM198	202	516	9.1e-156	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118853
AA Change: Y108H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: Y108H

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
Pfam:FAM198	202	516	1.1e-155	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135021

Predicted Effect

probably benign
Transcript: ENSMUST00000145992

SMART Domains

Protein: ENSMUSP00000120603
Gene: ENSMUSG00000027955

Domain	Start	End	E-Value	Type
Pfam:FAM198	1	51	5.4e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 103,104,538	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550	R593*	probably null	Het
Bicral	T	C	17: 46,801,668	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,610,606	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,670,980	D137V	probably damaging	Het
Dbr1	A	G	9: 99,575,983	T19A	probably damaging	Het
Dnah3	C	T	7: 120,030,010	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871	I207T	possibly damaging	Het
Fam219a	T	C	4: 41,521,925	S41G	probably benign	Het
Gm15448	T	A	7: 3,821,262	K629*	probably null	Het
Ifi203	T	C	1: 173,928,385		probably benign	Het
Inpp4a	T	C	1: 37,369,423	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197	Q182L	probably benign	Het
Krt90	T	C	15: 101,557,175	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,483,028	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787	Y813S	unknown	Het
Myh7	C	A	14: 54,974,644	E1548*	probably null	Het
Myh8	A	G	11: 67,297,539	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508		probably benign	Het
Neb	T	C	2: 52,296,273	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848	M65I	possibly damaging	Het
Nop56	C	T	2: 130,277,881	R81*	probably null	Het
Npnt	C	T	3: 132,908,396	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262	K148E	probably damaging	Het
Olfr1243	T	A	2: 89,527,604	I269F	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,675	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760	D959E	probably benign	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187		probably benign	Het
Prpf40b	C	T	15: 99,306,400	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403	V378I	possibly damaging	Het
Trpm1	A	T	7: 64,226,714		probably null	Het
Ubqln3	A	G	7: 104,141,275	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083	I393F	possibly damaging	Het

Other mutations in Fam198b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02952:Fam198b	APN	3	79886339	missense	probably damaging	1.00
P0015:Fam198b	UTSW	3	79936608	missense	probably damaging	1.00
PIT4362001:Fam198b	UTSW	3	79886939	missense	possibly damaging	0.78
R1519:Fam198b	UTSW	3	79941464	missense	possibly damaging	0.88
R1723:Fam198b	UTSW	3	79936663	missense	probably benign
R1782:Fam198b	UTSW	3	79886531	missense	possibly damaging	0.85
R3040:Fam198b	UTSW	3	79887125	missense	possibly damaging	0.95
R3840:Fam198b	UTSW	3	79908590	missense	probably benign	0.32
R4841:Fam198b	UTSW	3	79936605	missense	probably damaging	1.00
R4842:Fam198b	UTSW	3	79936605	missense	probably damaging	1.00
R4860:Fam198b	UTSW	3	79936674	nonsense	probably null
R4860:Fam198b	UTSW	3	79936674	nonsense	probably null
R5181:Fam198b	UTSW	3	79886311	missense	probably benign	0.08
R5266:Fam198b	UTSW	3	79936603	missense	probably damaging	0.96
R6353:Fam198b	UTSW	3	79941340	missense	probably damaging	1.00
R6698:Fam198b	UTSW	3	79936595	missense	probably damaging	0.97
R6856:Fam198b	UTSW	3	79886141	intron	probably benign
R6927:Fam198b	UTSW	3	79941462	missense	probably damaging	1.00
R7189:Fam198b	UTSW	3	79886807	nonsense	probably null
R7434:Fam198b	UTSW	3	79941362	missense	probably damaging	1.00
R7557:Fam198b	UTSW	3	79886608	nonsense	probably null
R7780:Fam198b	UTSW	3	79941404	missense	probably damaging	1.00
R7891:Fam198b	UTSW	3	79886284	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACTTTGGAGTAGTCGGCGTC -3'
(R):5'- GCCAGGTACTTCAGCATCTG -3'

Sequencing Primer
(F):5'- TGTGCCATCTACCTGGGC -3'
(R):5'- GCATCTGCTGCCCGTGC -3'

Posted On

2019-05-13