Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Fam217b'

162987

Institutional Source

Beutler Lab

Gene Symbol

Fam217b

Ensembl Gene

ENSMUSG00000070476

Gene Name

family with sequence similarity 217, member B

Synonyms

MMRRC Submission

039443-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1381 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

178414524-178424428 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 178420425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 61 (V61I)

Ref Sequence

ENSEMBL: ENSMUSP00000091805 (fasta)

Gene Model

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

AlphaFold

A2AJW5

Predicted Effect

probably benign
Transcript: ENSMUST00000094251
AA Change: V61I

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

SMART Domains

Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: V61I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129003

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,731,086	F252L	probably benign	Het
Aadac	A	T	3: 60,039,930	M350L	probably damaging	Het
Agtrap	G	A	4: 148,083,965	T19I	probably damaging	Het
Apba3	C	T	10: 81,271,756	T142M	possibly damaging	Het
Cd55b	T	A	1: 130,419,675	K133I	probably damaging	Het
Cep295	A	C	9: 15,322,565	C2312G	probably benign	Het
Ces1a	A	G	8: 93,034,031	V231A	probably damaging	Het
Chdh	C	A	14: 30,036,834	L579I	probably damaging	Het
Cyb5r4	T	A	9: 87,022,233	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,372,508	R355L	probably benign	Het
Dach2	T	C	X: 113,298,775	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,774,532	R93K	probably benign	Het
Dph2	G	T	4: 117,889,668	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,835,117	D634G	probably benign	Het
Fbln7	A	C	2: 128,877,379	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,588,741	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,090,471	I958N	probably damaging	Het
Foxp2	T	A	6: 15,409,766	M455K	possibly damaging	Het
Gabrr2	G	A	4: 33,081,420	G152D	probably damaging	Het
Galntl6	G	T	8: 58,472,955	P92Q	probably damaging	Het
Gm5592	A	T	7: 41,286,172	T33S	probably benign	Het
Grid2ip	A	T	5: 143,362,651	T166S	probably benign	Het
Grsf1	G	A	5: 88,665,864	S225L	probably benign	Het
Hadha	G	T	5: 30,128,836	T395K	probably benign	Het
Hars2	C	T	18: 36,789,217	A295V	possibly damaging	Het
Hsf5	T	A	11: 87,638,169	S577T	probably benign	Het
Ice2	A	G	9: 69,400,527	Y31C	probably damaging	Het
Ift80	A	T	3: 68,914,783	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,476,640	D222E	probably benign	Het
Ilvbl	C	A	10: 78,576,596	S50R	probably damaging	Het
Invs	C	A	4: 48,421,942	S858*	probably null	Het
Ipo13	T	G	4: 117,904,395	T508P	probably damaging	Het
Itgb4	T	C	11: 115,994,337	I1015T	probably benign	Het
Kank4	A	T	4: 98,779,938	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,720,904	A906T	probably benign	Het
Klk4	G	A	7: 43,885,282	V222M	probably damaging	Het
Lipo4	T	A	19: 33,499,341	M336L	probably benign	Het
Lrig1	T	C	6: 94,606,130	N1002D	probably benign	Het
Lzts3	A	G	2: 130,635,299	S524P	probably damaging	Het
Maz	A	T	7: 127,023,152	C409*	probably null	Het
Mmp24	A	T	2: 155,814,127	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 47,235,302	V206I	possibly damaging	Het
Myof	A	G	19: 37,995,485	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,314,105	V1030D	probably damaging	Het
Neb	T	A	2: 52,260,532	I2495F	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,267,826	T166M	probably damaging	Het
Nup153	T	C	13: 46,689,181	D837G	probably damaging	Het
Nup210	C	A	6: 91,075,960	G331V	probably damaging	Het
Olfr1143	T	C	2: 87,803,136	L245P	probably damaging	Het
Olfr1447	T	C	19: 12,900,956	T275A	probably benign	Het
Olfr5	A	G	7: 6,481,009		probably null	Het
Olfr923	T	A	9: 38,828,338	S210T	probably benign	Het
Pabpc4	T	A	4: 123,289,059	L163H	probably damaging	Het
Papd5	T	A	8: 88,243,309	M203K	possibly damaging	Het
Pcdh7	T	A	5: 57,721,540	Y126*	probably null	Het
Pdzd2	A	G	15: 12,385,439	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,150,463	I649M	probably benign	Het
Plcl2	G	A	17: 50,607,729	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674	T325N	possibly damaging	Het
Pqlc1	T	G	18: 80,283,314	S126A	probably benign	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,929,849		probably benign	Het
Ptcd2	A	G	13: 99,344,597	S25P	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rusc2	T	A	4: 43,416,137	V481E	probably damaging	Het
Sephs2	G	T	7: 127,272,967	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,003,154	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,956,870		probably null	Het
Smarca2	T	C	19: 26,630,828	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,036,554	I637L	probably benign	Het
Ston2	A	T	12: 91,740,492	S115T	probably damaging	Het
Tal2	A	C	4: 53,785,999	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,826,140	T41S	probably benign	Het
Tespa1	T	C	10: 130,360,691	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,439	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,638,510		probably benign	Het
Txnl4a	T	C	18: 80,207,264	V25A	probably benign	Het
Utp4	C	A	8: 106,906,276	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,636,938	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,618,486	I643F	probably damaging	Het
Vmn2r121	C	A	X: 124,128,140	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,786,733	S190T	probably damaging	Het
Zfp507	A	G	7: 35,776,010	V926A	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGGAGGGCTCACAGTCATAATG -3'
(R):5'- ATGACAACAGCCATATCCCGGAGG -3'

Sequencing Primer
(F):5'- GCCAATGACTAGACTCTGGTTTTAC -3'
(R):5'- CTGAAGGAAACCGGGTCTATCTC -3'

Posted On

2014-03-17