Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01974:Fam217b'

181692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam217b

Ensembl Gene

ENSMUSG00000070476

Gene Name

family with sequence similarity 217, member B

Synonyms

9030418K01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01974

Quality Score

Status

Chromosome

Chromosomal Location

178056317-178066221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 178063020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 328 (R328Q)

Ref Sequence

ENSEMBL: ENSMUSP00000091805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094251]

AlphaFold

A2AJW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094251
AA Change: R328Q

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

SMART Domains

Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: R328Q

Domain	Start	End	E-Value	Type
Pfam:FAM217	103	331	2.2e-91	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129003

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,762 (GRCm39)	D1401G	possibly damaging	Het
Adamts2	G	A	11: 50,667,001 (GRCm39)	G433S	probably damaging	Het
Cacna2d2	A	C	9: 107,394,621 (GRCm39)	S598R	probably benign	Het
Cdkl3	A	G	11: 51,902,064 (GRCm39)	Q91R	probably damaging	Het
Celf2	T	C	2: 6,608,842 (GRCm39)	Y313C	probably damaging	Het
Clint1	C	A	11: 45,799,862 (GRCm39)	N558K	probably benign	Het
Dcbld1	A	G	10: 52,180,777 (GRCm39)	H147R	probably benign	Het
Ednrb	A	C	14: 104,058,254 (GRCm39)	Y350D	probably damaging	Het
Elp2	C	T	18: 24,759,260 (GRCm39)	P539L	probably damaging	Het
Gm9991	G	T	1: 90,603,197 (GRCm39)		noncoding transcript	Het
Herc4	T	G	10: 63,135,020 (GRCm39)		probably null	Het
Hus1	T	C	11: 8,950,088 (GRCm39)	N211S	possibly damaging	Het
Immt	A	G	6: 71,849,842 (GRCm39)	D454G	probably damaging	Het
Itga4	G	A	2: 79,103,471 (GRCm39)		probably benign	Het
Kank1	A	T	19: 25,387,596 (GRCm39)	N423I	possibly damaging	Het
Kynu	T	A	2: 43,571,352 (GRCm39)		probably benign	Het
Mycbp2	A	C	14: 103,380,647 (GRCm39)	S3670A	possibly damaging	Het
Ndufv3	T	C	17: 31,740,583 (GRCm39)	V30A	probably benign	Het
Or8k17	G	T	2: 86,066,304 (GRCm39)	L292I	probably benign	Het
Per2	C	T	1: 91,351,440 (GRCm39)	R1022Q	probably benign	Het
Rad23a	T	C	8: 85,565,568 (GRCm39)	E30G	probably damaging	Het
Ropn1l	T	A	15: 31,449,255 (GRCm39)	Y91F	probably benign	Het
Sertad4	C	A	1: 192,529,274 (GRCm39)	E181*	probably null	Het
Styxl2	A	T	1: 165,928,105 (GRCm39)	C502*	probably null	Het
Tnfrsf1b	G	A	4: 144,942,421 (GRCm39)	P454L	probably damaging	Het
Ttbk2	G	A	2: 120,616,564 (GRCm39)	R110W	probably damaging	Het
Usp17le	G	T	7: 104,417,642 (GRCm39)	S500Y	probably benign	Het

Other mutations in Fam217b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Fam217b	APN	2	178,062,943 (GRCm39)	missense	probably damaging	0.96
IGL01866:Fam217b	APN	2	178,062,224 (GRCm39)	missense	probably benign
IGL02376:Fam217b	APN	2	178,059,366 (GRCm39)	missense	probably benign
R0787:Fam217b	UTSW	2	178,062,702 (GRCm39)	missense	probably benign	0.01
R0833:Fam217b	UTSW	2	178,062,782 (GRCm39)	missense	probably benign	0.00
R0836:Fam217b	UTSW	2	178,062,782 (GRCm39)	missense	probably benign	0.00
R1381:Fam217b	UTSW	2	178,062,218 (GRCm39)	missense	probably benign
R1903:Fam217b	UTSW	2	178,062,374 (GRCm39)	missense	probably benign	0.32
R5953:Fam217b	UTSW	2	178,062,153 (GRCm39)	missense	probably damaging	1.00
R6699:Fam217b	UTSW	2	178,062,210 (GRCm39)	missense	probably benign
R7226:Fam217b	UTSW	2	178,062,996 (GRCm39)	missense	probably benign	0.26
R8517:Fam217b	UTSW	2	178,062,565 (GRCm39)	missense	probably benign	0.30

Posted On

2014-05-07