Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00548:Fam98a'

5745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam98a

Ensembl Gene

ENSMUSG00000002017

Gene Name

family with sequence similarity 98, member A

Synonyms

2810405J04Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

IGL00548

Quality Score

Status

Chromosome

Chromosomal Location

75844081-75858941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75845813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 311 (E311G)

Ref Sequence

ENSEMBL: ENSMUSP00000108126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112507]

AlphaFold

Q3TJZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000112507
AA Change: E311G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108126
Gene: ENSMUSG00000002017
AA Change: E311G

Domain	Start	End	E-Value	Type
Pfam:DUF2465	11	328	1.1e-137	PFAM
low complexity region	334	396	N/A	INTRINSIC
low complexity region	401	441	N/A	INTRINSIC
low complexity region	448	481	N/A	INTRINSIC
low complexity region	485	501	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140729

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 110,976,081 (GRCm39)	Y146C	probably damaging	Het
Dctn5	T	A	7: 121,743,019 (GRCm39)	C120*	probably null	Het
Ddah2	A	G	17: 35,279,607 (GRCm39)	D109G	possibly damaging	Het
Dgke	G	A	11: 88,946,197 (GRCm39)	T201I	probably benign	Het
Elmo1	A	G	13: 20,445,749 (GRCm39)	I146V	probably benign	Het
Herc2	T	A	7: 55,856,313 (GRCm39)	M3881K	probably benign	Het
Mroh2b	A	G	15: 4,960,798 (GRCm39)	K787E	probably benign	Het
Neb	A	G	2: 52,133,984 (GRCm39)	V3333A	probably benign	Het
Prkch	C	A	12: 73,749,585 (GRCm39)	Q393K	probably damaging	Het
Rfx3	A	G	19: 27,783,586 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,004,565 (GRCm39)	T1281A	probably benign	Het
Usp24	A	G	4: 106,198,495 (GRCm39)	T134A	probably damaging	Het

Other mutations in Fam98a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Fam98a	APN	17	75,858,742 (GRCm39)	missense	probably damaging	1.00
IGL02170:Fam98a	APN	17	75,847,187 (GRCm39)	critical splice acceptor site	probably null
IGL02399:Fam98a	APN	17	75,845,936 (GRCm39)	splice site	probably benign
IGL03062:Fam98a	APN	17	75,847,100 (GRCm39)	splice site	probably benign
IGL03246:Fam98a	APN	17	75,845,848 (GRCm39)	missense	probably damaging	0.99
R0584:Fam98a	UTSW	17	75,851,772 (GRCm39)	missense	probably damaging	1.00
R0594:Fam98a	UTSW	17	75,845,482 (GRCm39)	nonsense	probably null
R1121:Fam98a	UTSW	17	75,845,529 (GRCm39)	missense	unknown
R1366:Fam98a	UTSW	17	75,846,381 (GRCm39)	splice site	probably benign
R1387:Fam98a	UTSW	17	75,845,264 (GRCm39)	missense	unknown
R1424:Fam98a	UTSW	17	75,847,173 (GRCm39)	missense	probably damaging	1.00
R1533:Fam98a	UTSW	17	75,848,276 (GRCm39)	missense	probably damaging	1.00
R1651:Fam98a	UTSW	17	75,854,710 (GRCm39)	missense	probably benign	0.16
R2211:Fam98a	UTSW	17	75,845,940 (GRCm39)	critical splice donor site	probably null
R4295:Fam98a	UTSW	17	75,848,342 (GRCm39)	missense	probably damaging	1.00
R4350:Fam98a	UTSW	17	75,848,220 (GRCm39)	missense	probably damaging	1.00
R4963:Fam98a	UTSW	17	75,845,977 (GRCm39)	missense	probably damaging	0.99
R5320:Fam98a	UTSW	17	75,845,810 (GRCm39)	missense	probably damaging	1.00
R5383:Fam98a	UTSW	17	75,845,576 (GRCm39)	missense	unknown
R6031:Fam98a	UTSW	17	75,846,427 (GRCm39)	missense	probably damaging	0.98
R6031:Fam98a	UTSW	17	75,846,427 (GRCm39)	missense	probably damaging	0.98
R7058:Fam98a	UTSW	17	75,845,384 (GRCm39)	missense	unknown
R7182:Fam98a	UTSW	17	75,846,013 (GRCm39)	nonsense	probably null
R7505:Fam98a	UTSW	17	75,845,233 (GRCm39)	missense	unknown
R7554:Fam98a	UTSW	17	75,854,670 (GRCm39)	nonsense	probably null
R7566:Fam98a	UTSW	17	75,854,657 (GRCm39)	missense	probably damaging	1.00
R8095:Fam98a	UTSW	17	75,845,766 (GRCm39)	missense	probably damaging	1.00
R8467:Fam98a	UTSW	17	75,851,830 (GRCm39)	missense	probably damaging	1.00
R8790:Fam98a	UTSW	17	75,854,684 (GRCm39)	missense	possibly damaging	0.93
R8827:Fam98a	UTSW	17	75,851,824 (GRCm39)	missense	possibly damaging	0.74
R9375:Fam98a	UTSW	17	75,848,330 (GRCm39)	missense	possibly damaging	0.55
R9625:Fam98a	UTSW	17	75,845,474 (GRCm39)	missense	unknown

Posted On

2012-04-20