Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01866:Fam217b'

178523

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 #

IGL01866

Quality Score

Status

Chromosome

Chromosomal Location

178414524-178424428 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178420431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 63 (T63A)

Ref Sequence

ENSEMBL: ENSMUSP00000091805 (fasta)

Gene Model

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

AlphaFold

A2AJW5

Predicted Effect

probably benign
Transcript: ENSMUST00000094251
AA Change: T63A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: T63A

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	C	4: 144,528,549	Y180H	possibly damaging	Het
Abi3bp	A	T	16: 56,671,973	I1361L	probably benign	Het
Amph	A	T	13: 19,142,002	D634V	probably damaging	Het
Ank1	G	A	8: 23,093,855	V317I	possibly damaging	Het
Ap4e1	G	A	2: 127,046,910	V460I	possibly damaging	Het
Arhgap19	A	T	19: 41,786,577	H198Q	probably benign	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cacna1g	C	T	11: 94,457,111	G717D	probably damaging	Het
Camkk2	A	G	5: 122,763,950	S99P	probably damaging	Het
Catsperb	T	A	12: 101,509,311	Y371*	probably null	Het
Cbl	A	T	9: 44,153,825	C735*	probably null	Het
Ccdc146	C	A	5: 21,333,054	A91S	probably damaging	Het
Col1a2	G	T	6: 4,524,132	D531Y	probably damaging	Het
Dscam	T	A	16: 96,685,350	T1042S	probably benign	Het
Dtnb	A	G	12: 3,732,626	Y363C	probably benign	Het
Ear10	A	G	14: 43,923,328	L14P	probably damaging	Het
Egf	A	G	3: 129,735,880	S294P	probably benign	Het
Erbb3	T	C	10: 128,569,368	*1340W	probably null	Het
Fig4	G	A	10: 41,232,164	P680L	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm6882	T	A	7: 21,427,587	I119F	probably damaging	Het
Hdac10	C	A	15: 89,124,533	G442W	probably damaging	Het
Mc2r	C	T	18: 68,407,423	M266I	possibly damaging	Het
Mep1b	A	G	18: 21,094,993	Q551R	probably benign	Het
Mtrf1	T	A	14: 79,401,508	C27S	probably benign	Het
Myo5c	T	A	9: 75,269,582	M603K	probably benign	Het
Nuf2	A	G	1: 169,498,838	L448P	possibly damaging	Het
Olfr1535	T	C	13: 21,555,173	N283S	probably benign	Het
Olfr390	A	T	11: 73,787,828	I297L	probably benign	Het
Olfr517	C	T	7: 108,868,799	M118I	possibly damaging	Het
Olfr952	A	T	9: 39,426,729	M114K	probably damaging	Het
Ppp2r5c	T	C	12: 110,567,827	Y375H	probably benign	Het
Pstpip2	A	G	18: 77,877,625	I317M	probably benign	Het
Pxdn	A	G	12: 29,984,571	T208A	probably benign	Het
Rab3gap1	C	T	1: 127,891,080	H116Y	probably damaging	Het
Rarb	T	A	14: 16,443,751	D179V	probably benign	Het
Rasal1	G	A	5: 120,675,423	A621T	probably damaging	Het
Rnf6	G	A	5: 146,210,907	R434C	probably damaging	Het
Scn10a	C	A	9: 119,635,502	E1011*	probably null	Het
Sec24d	C	T	3: 123,293,595	Q137*	probably null	Het
Slc35g1	C	A	19: 38,403,194	A308E	probably damaging	Het
Smtnl1	C	A	2: 84,818,745	C55F	possibly damaging	Het
Stt3a	A	T	9: 36,734,366	D676E	probably benign	Het
Sytl2	T	C	7: 90,381,839		probably benign	Het
Trabd2b	A	G	4: 114,408,920	T44A	probably damaging	Het
Trim12a	T	C	7: 104,304,153		probably benign	Het
Tti1	A	T	2: 158,007,698	D540E	probably benign	Het
Tubgcp6	A	G	15: 89,103,488	V1094A	probably benign	Het
Vmn1r34	A	G	6: 66,637,389	Y122H	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfp579	T	A	7: 4,994,258	Q218L	possibly damaging	Het

Other mutations in Fam217b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Fam217b	APN	2	178421150	missense	probably damaging	0.96
IGL01974:Fam217b	APN	2	178421227	missense	probably damaging	1.00
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