Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Fam117a'

549289

Institutional Source

Beutler Lab

Gene Symbol

Fam117a

Ensembl Gene

ENSMUSG00000038893

Gene Name

family with sequence similarity 117, member A

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95337018-95381872 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95377672 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 300 (G300S)

Ref Sequence

ENSEMBL: ENSMUSP00000049162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037502]

Predicted Effect

probably benign
Transcript: ENSMUST00000037502
AA Change: G300S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893
AA Change: G300S

Domain	Start	End	E-Value	Type
low complexity region	3	27	N/A	INTRINSIC
Pfam:FAM117	86	397	3.6e-116	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in Fam117a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02821:Fam117a	APN	11	95363989	splice site	probably benign
IGL03027:Fam117a	APN	11	95377573	missense	probably benign	0.00
R0328:Fam117a	UTSW	11	95375626	splice site	probably benign
R0603:Fam117a	UTSW	11	95380873	missense	probably damaging	0.99
R1779:Fam117a	UTSW	11	95378953	missense	probably damaging	1.00
R1941:Fam117a	UTSW	11	95380798	missense	probably damaging	1.00
R4801:Fam117a	UTSW	11	95364070	missense	probably damaging	0.99
R4802:Fam117a	UTSW	11	95364070	missense	probably damaging	0.99
R5328:Fam117a	UTSW	11	95364170	critical splice donor site	probably null
R5368:Fam117a	UTSW	11	95375633	missense	probably damaging	0.98
R6166:Fam117a	UTSW	11	95380781	missense	possibly damaging	0.89
R6267:Fam117a	UTSW	11	95364145	missense	possibly damaging	0.93
R6296:Fam117a	UTSW	11	95364145	missense	possibly damaging	0.93
R7354:Fam117a	UTSW	11	95380703	missense	probably damaging	1.00
R7670:Fam117a	UTSW	11	95378834	missense	probably benign	0.00
R7673:Fam117a	UTSW	11	95371496	missense	probably benign	0.15
Z1088:Fam117a	UTSW	11	95371524	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGAGAAGACCCTGGACTGAG -3'
(R):5'- GTCAGAGTGCTGTAAGGACC -3'

Sequencing Primer
(F):5'- GAAGACCCTGGACTGAGTCTCTTC -3'
(R):5'- GCTGTAAGGACCATTATTATCACAGG -3'

Posted On

2019-05-15