Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Fam217b'

291119

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 #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

178414524-178424428 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178417573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3 (D3G)

Ref Sequence

ENSEMBL: ENSMUSP00000091805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058678] [ENSMUST00000094251]

AlphaFold

A2AJW5

Predicted Effect

probably benign
Transcript: ENSMUST00000058678

SMART Domains

Protein: ENSMUSP00000061402
Gene: ENSMUSG00000049999

Domain	Start	End	E-Value	Type
low complexity region	31	46	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:CBM_21	151	258	1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094251
AA Change: D3G

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

SMART Domains

Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: D3G

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,984,554		probably benign	Het
2700081O15Rik	C	T	19: 7,422,376	P496L	probably damaging	Het
Abtb1	A	G	6: 88,838,484		probably benign	Het
Adcy3	G	A	12: 4,201,031	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,418,680	V289A	probably benign	Het
Akr1d1	A	T	6: 37,530,285	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,042,529		probably benign	Het
Arap3	T	C	18: 37,978,453	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,806,059	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,817,735	T444A	probably damaging	Het
Arr3	A	C	X: 100,614,675	K281Q	probably damaging	Het
Arrdc2	A	T	8: 70,838,979	I114N	probably benign	Het
Atg2b	A	T	12: 105,645,468	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,448,068	Y188S	probably benign	Het
Cbx6	C	A	15: 79,828,299	R309L	probably benign	Het
Chrna9	T	C	5: 65,971,159	S237P	probably damaging	Het
Dapk1	G	A	13: 60,696,394	V76I	probably benign	Het
Elk4	T	A	1: 132,014,550	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287	T799P	probably damaging	Het
Exosc2	G	A	2: 31,679,875	V233M	possibly damaging	Het
Farp1	T	A	14: 121,272,856	N755K	probably damaging	Het
Fer	A	G	17: 63,934,346	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,318,963	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300	I658S	probably damaging	Het
Gemin2	A	G	12: 59,021,720	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,668,996	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,319,455	G149D	probably damaging	Het
Krt74	A	C	15: 101,754,503		noncoding transcript	Het
Ltf	A	G	9: 111,029,624	D480G	probably benign	Het
Map1b	A	G	13: 99,435,595	L206P	probably damaging	Het
Meis1	T	C	11: 18,881,752	M429V	probably benign	Het
Myh4	C	A	11: 67,245,728	T444N	probably benign	Het
Nckap1l	A	T	15: 103,471,231	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,556,798	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,007,823		probably null	Het
Ogdhl	T	C	14: 32,343,318	Y710H	probably damaging	Het
Olfr1263	A	G	2: 90,015,460	I177V	probably benign	Het
Otud7b	A	G	3: 96,155,037	K531R	possibly damaging	Het
Pax3	T	C	1: 78,132,292	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,875,223		probably benign	Het
Pik3cb	C	T	9: 99,052,352	M813I	probably benign	Het
Prss42	A	T	9: 110,803,107	D302V	possibly damaging	Het
Rad52	T	C	6: 119,915,230		probably benign	Het
Reln	A	T	5: 22,080,791	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,103,192		probably benign	Het
Sbf2	C	T	7: 110,462,956	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,924,334		probably null	Het
Smg9	A	G	7: 24,415,030	I265V	probably benign	Het
Sppl2b	G	T	10: 80,867,598	E565*	probably null	Het
Stx6	T	A	1: 155,201,979	V244D	probably benign	Het
Tle4	T	C	19: 14,594,404	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,578,567	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,512,558	T220I	possibly damaging	Het
Ttn	A	T	2: 76,727,467	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,892,665	M281L	probably benign	Het
Zfp595	T	C	13: 67,316,450	K586R	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
IGL01866:Fam217b	APN	2	178420431	missense	probably benign
IGL01974:Fam217b	APN	2	178421227	missense	probably damaging	1.00
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

2015-04-16