Mutagenetix > Incidental Mutation

Incidental Mutation 'R6699:Fam217b'

528676

Institutional Source

Beutler Lab

Gene Symbol

Fam217b

Ensembl Gene

ENSMUSG00000070476

Gene Name

family with sequence similarity 217, member B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6699 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178414524-178424428 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 178420417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 58 (M58R)

Ref Sequence

ENSEMBL: ENSMUSP00000091805 (fasta)

Gene Model

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

AlphaFold

A2AJW5

Predicted Effect

probably benign
Transcript: ENSMUST00000094251
AA Change: M58R

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

SMART Domains

Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: M58R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129003

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,144,368	T894A	probably damaging	Het
Adam39	A	G	8: 40,826,657	K695R	probably benign	Het
Agfg1	G	A	1: 82,858,454		probably null	Het
Ankrd44	G	A	1: 54,762,445	T241I	probably damaging	Het
Car15	T	C	16: 17,836,574	D166G	probably null	Het
Cpne2	G	A	8: 94,563,959	V391M	probably damaging	Het
Ddx27	C	T	2: 167,020,503	T155I	possibly damaging	Het
F830045P16Rik	T	C	2: 129,460,421	D417G	probably damaging	Het
Ftmt	T	C	18: 52,331,665	S18P	possibly damaging	Het
Gm16494	C	T	17: 47,016,908	V17M	probably damaging	Het
Gm36864	A	T	7: 44,238,772	I342F	possibly damaging	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Hist1h4k	A	T	13: 21,750,504	M1K	probably null	Het
Hmgcr	T	C	13: 96,660,209	E191G	probably damaging	Het
Hrc	A	G	7: 45,335,695	D90G	possibly damaging	Het
Kbtbd7	A	G	14: 79,428,192	E488G	probably benign	Het
Krtap26-1	T	C	16: 88,647,715	N6S	unknown	Het
Mgat2	A	G	12: 69,184,781	D43G	probably damaging	Het
Mrps30	A	T	13: 118,380,598	S362T	probably damaging	Het
Olfr1124	A	T	2: 87,434,816	I110F	probably benign	Het
Olfr224	T	A	11: 58,567,205	I47L	possibly damaging	Het
Pcdhb11	T	A	18: 37,422,937	V440E	probably damaging	Het
Pcdhb18	T	A	18: 37,491,952	H778Q	probably benign	Het
Plekha7	T	C	7: 116,135,175	E1025G	probably damaging	Het
Rnf39	T	C	17: 36,947,229	W96R	probably damaging	Het
Rph3al	A	T	11: 75,900,837		probably benign	Het
Rrm1	T	A	7: 102,460,825	Y556N	probably damaging	Het
Saal1	A	T	7: 46,692,817	C401S	probably damaging	Het
Sec14l3	T	C	11: 4,075,193	S268P	possibly damaging	Het
Tmem54	A	G	4: 129,111,325	I199M	probably benign	Het
Tomm70a	A	G	16: 57,142,802	M395V	probably benign	Het
Topors	A	G	4: 40,262,300	V328A	probably damaging	Het
Vmn2r61	T	G	7: 42,300,156	S667A	probably benign	Het
Vmn2r68	G	A	7: 85,232,375	A499V	possibly damaging	Het
Zcchc14	A	T	8: 121,608,616		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
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
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'- CTAGCCAATGACTAGACTCTGG -3'
(R):5'- AAACCGGGTCTATCTCTTCGG -3'

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

Posted On

2018-07-24