Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02952:Fam198b'

364954

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam198b

Ensembl Gene

ENSMUSG00000027955

Gene Name

family with sequence similarity 198, member B

Synonyms

2210419I08Rik, 1110032E23Rik, Ened

Accession Numbers

NCBI RefSeq: NM_133187.3; MGI:1915909

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02952

Quality Score

Status

Chromosome

Chromosomal Location

79884533-79946280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79886339 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 38 (L38P)

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: L38P

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

SMART Domains

Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: L38P

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: L38P

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

SMART Domains

Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: L38P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195082

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415F23Rik	A	T	1: 23,101,990	I81N	probably damaging	Het
A2m	A	T	6: 121,678,025	D1436V	probably damaging	Het
Abca7	G	T	10: 80,007,408	R1239L	probably damaging	Het
Acp2	T	C	2: 91,208,443		probably benign	Het
Adamts4	A	G	1: 171,251,348	N179S	probably damaging	Het
Adgrv1	T	C	13: 81,433,636	D4763G	probably benign	Het
Atp11b	T	C	3: 35,828,695	V633A	probably damaging	Het
Cadm2	A	T	16: 66,664,452	I342K	probably damaging	Het
Capn10	T	C	1: 92,945,174	S541P	probably damaging	Het
Ccnf	A	G	17: 24,231,325	L462P	possibly damaging	Het
Cdc27	T	C	11: 104,517,464	Y546C	probably damaging	Het
Cep120	G	T	18: 53,683,228		probably benign	Het
Cetn2	T	C	X: 72,914,202		probably null	Het
Cyp1a1	C	T	9: 57,702,710	S469L	probably benign	Het
Dnah17	G	A	11: 118,088,268	T1766I	probably benign	Het
Doc2g	G	A	19: 4,006,719	G345D	possibly damaging	Het
Dock4	T	C	12: 40,710,903		probably null	Het
Dopey1	T	A	9: 86,532,922		probably benign	Het
Emilin2	C	A	17: 71,280,821	V99F	probably damaging	Het
Exoc8	A	G	8: 124,897,536	S31P	probably benign	Het
Gm3115	T	C	14: 4,084,302		probably benign	Het
Gm9742	T	A	13: 8,029,894		noncoding transcript	Het
Gpr160	T	C	3: 30,896,294	Y172H	probably benign	Het
Ifnk	T	A	4: 35,152,495	L141Q	probably damaging	Het
Klhl36	A	G	8: 119,870,484	E308G	probably benign	Het
Lrp1b	T	C	2: 41,506,703	I450M	probably benign	Het
Noxa1	T	C	2: 25,091,761	Y110C	probably damaging	Het
Olfr287	T	C	15: 98,207,589	Y265C	probably damaging	Het
Pkd2	A	T	5: 104,480,160	T367S	possibly damaging	Het
Polg2	T	C	11: 106,772,713	I385V	possibly damaging	Het
Prr14l	A	G	5: 32,835,670	S17P	unknown	Het
Prss22	C	A	17: 23,996,723	C75F	probably damaging	Het
Ptgs1	A	G	2: 36,251,241	K567E	probably benign	Het
Ptprz1	A	G	6: 23,036,926	I1141M	probably damaging	Het
R3hcc1l	A	G	19: 42,563,994	K477E	probably damaging	Het
Riok1	A	G	13: 38,048,890	Y194C	probably damaging	Het
Smr2	T	A	5: 88,088,236	C16S	possibly damaging	Het
Stk25	A	T	1: 93,626,076	I187N	probably damaging	Het
Trhde	T	C	10: 114,800,573	E243G	probably damaging	Het
Vmn2r3	T	C	3: 64,278,835	E143G	probably damaging	Het

Other mutations in Fam198b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7025:Fam198b	UTSW	3	79886548	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

Posted On

2015-12-18