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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01974

Quality Score

Status

Chromosome

Chromosomal Location

178414524-178424428 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 178421227 bp (GRCm38)

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: 32,659,805	D1401G	possibly damaging	Het
Adamts2	G	A	11: 50,776,174	G433S	probably damaging	Het
Cacna2d2	A	C	9: 107,517,422	S598R	probably benign	Het
Cdkl3	A	G	11: 52,011,237	Q91R	probably damaging	Het
Celf2	T	C	2: 6,604,031	Y313C	probably damaging	Het
Clint1	C	A	11: 45,909,035	N558K	probably benign	Het
Dcbld1	A	G	10: 52,304,681	H147R	probably benign	Het
Dusp27	A	T	1: 166,100,536	C502*	probably null	Het
Ednrb	A	C	14: 103,820,818	Y350D	probably damaging	Het
Elp2	C	T	18: 24,626,203	P539L	probably damaging	Het
Gm9991	G	T	1: 90,675,475		noncoding transcript	Het
Herc4	T	G	10: 63,299,241		probably null	Het
Hus1	T	C	11: 9,000,088	N211S	possibly damaging	Het
Immt	A	G	6: 71,872,858	D454G	probably damaging	Het
Itga4	G	A	2: 79,273,127		probably benign	Het
Kank1	A	T	19: 25,410,232	N423I	possibly damaging	Het
Kynu	T	A	2: 43,681,340		probably benign	Het
Mycbp2	A	C	14: 103,143,211	S3670A	possibly damaging	Het
Ndufv3	T	C	17: 31,521,609	V30A	probably benign	Het
Olfr1048	G	T	2: 86,235,960	L292I	probably benign	Het
Per2	C	T	1: 91,423,718	R1022Q	probably benign	Het
Rad23a	T	C	8: 84,838,939	E30G	probably damaging	Het
Ropn1l	T	A	15: 31,449,109	Y91F	probably benign	Het
Sertad4	C	A	1: 192,846,966	E181*	probably null	Het
Tnfrsf1b	G	A	4: 145,215,851	P454L	probably damaging	Het
Ttbk2	G	A	2: 120,786,083	R110W	probably damaging	Het
Usp17le	G	T	7: 104,768,435	S500Y	probably benign	Het

Other mutations in Fam217b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Fam217b	APN	2	178421150	missense	probably damaging	0.96
IGL01866:Fam217b	APN	2	178420431	missense	probably benign
IGL02376:Fam217b	APN	2	178417573	missense	probably benign
R0787:Fam217b	UTSW	2	178420909	missense	probably benign	0.01
R0833:Fam217b	UTSW	2	178420989	missense	probably benign	0.00
R0836:Fam217b	UTSW	2	178420989	missense	probably benign	0.00
R1381:Fam217b	UTSW	2	178420425	missense	probably benign
R1903:Fam217b	UTSW	2	178420581	missense	probably benign	0.32
R5953:Fam217b	UTSW	2	178420360	missense	probably damaging	1.00
R6699:Fam217b	UTSW	2	178420417	missense	probably benign
R7226:Fam217b	UTSW	2	178421203	missense	probably benign	0.26
R8517:Fam217b	UTSW	2	178420772	missense	probably benign	0.30

Posted On

2014-05-07