Mutagenetix > Incidental Mutation

Incidental Mutation 'R5368:Fam117a'

429491

Institutional Source

Beutler Lab

Gene Symbol

Fam117a

Ensembl Gene

ENSMUSG00000038893

Gene Name

family with sequence similarity 117, member A

Synonyms

5730593F17Rik

MMRRC Submission

043204-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

R5368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95227844-95272698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95266459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 193 (S193F)

Ref Sequence

ENSEMBL: ENSMUSP00000049162 (fasta)

Gene Model

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

AlphaFold

Q7TNF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000037502
AA Change: S193F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893
AA Change: S193F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189860

Meta Mutation Damage Score

0.0665

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,925 (GRCm39)	H97L	possibly damaging	Het
Abca9	T	A	11: 110,036,372 (GRCm39)	N579I	probably damaging	Het
Acbd3	A	T	1: 180,549,660 (GRCm39)		probably benign	Het
Ankrd50	A	T	3: 38,509,199 (GRCm39)	I1056N	probably damaging	Het
Ceacam18	T	C	7: 43,291,458 (GRCm39)	V300A	probably benign	Het
Cfap46	C	A	7: 139,207,389 (GRCm39)	R1843S	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,629 (GRCm39)	V1229A	probably damaging	Het
Dbx2	G	A	15: 95,538,522 (GRCm39)	S206L	probably benign	Het
Dnah11	A	T	12: 117,918,628 (GRCm39)	D1530E	probably damaging	Het
Ecm2	A	C	13: 49,674,419 (GRCm39)	T280P	probably benign	Het
Emc2	G	A	15: 43,375,207 (GRCm39)		probably null	Het
Epb42	C	T	2: 120,849,943 (GRCm39)	V689I	probably benign	Het
Fam114a1	T	A	5: 65,163,452 (GRCm39)	M209K	possibly damaging	Het
Foxp2	A	T	6: 15,377,913 (GRCm39)		probably benign	Het
Frmd6	T	A	12: 70,910,874 (GRCm39)	C19*	probably null	Het
Fyb1	A	G	15: 6,610,159 (GRCm39)		probably null	Het
Gata6	C	A	18: 11,063,059 (GRCm39)	H442Q	possibly damaging	Het
Gldc	A	G	19: 30,135,921 (GRCm39)	S160P	probably benign	Het
Gm3952	A	G	8: 129,472,455 (GRCm39)	S1626P	possibly damaging	Het
Gm9762	T	A	3: 78,873,742 (GRCm39)		noncoding transcript	Het
Gtpbp2	T	C	17: 46,477,230 (GRCm39)		probably benign	Het
Hgd	A	T	16: 37,410,113 (GRCm39)	T50S	probably benign	Het
Itpr1	C	T	6: 108,364,459 (GRCm39)	T22M	probably damaging	Het
Kif26b	G	A	1: 178,743,449 (GRCm39)	E1182K	probably damaging	Het
Kirrel3	A	G	9: 34,919,034 (GRCm39)	E230G	probably damaging	Het
Leng8	A	G	7: 4,142,987 (GRCm39)	Y88C	probably damaging	Het
Lpo	T	C	11: 87,711,895 (GRCm39)	D54G	possibly damaging	Het
Lypd2	G	T	15: 74,604,908 (GRCm39)	A29E	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mical3	T	C	6: 120,936,434 (GRCm39)	Y1364C	probably damaging	Het
Mroh2b	A	G	15: 4,935,054 (GRCm39)	N163S	probably damaging	Het
Mtf1	G	A	4: 124,718,872 (GRCm39)	C295Y	probably damaging	Het
Nbn	T	A	4: 15,969,391 (GRCm39)	L212Q	probably damaging	Het
Obscn	A	T	11: 58,959,852 (GRCm39)		probably null	Het
Or10ag56	T	A	2: 87,139,126 (GRCm39)		probably null	Het
Or4c110	A	G	2: 88,832,435 (GRCm39)	S66P	probably damaging	Het
Peli1	A	G	11: 21,098,389 (GRCm39)	T375A	probably damaging	Het
Picalm	T	C	7: 89,856,803 (GRCm39)	*611Q	probably null	Het
Plch1	G	T	3: 63,609,394 (GRCm39)	Q938K	possibly damaging	Het
Plxnb2	A	G	15: 89,043,796 (GRCm39)	V1352A	possibly damaging	Het
Pmepa1	G	A	2: 173,070,115 (GRCm39)	R147W	probably damaging	Het
Prdm16	T	G	4: 154,429,848 (GRCm39)	K373Q	probably damaging	Het
Qki	T	G	17: 10,457,964 (GRCm39)	E135A	probably damaging	Het
Rad50	T	C	11: 53,575,073 (GRCm39)	K556E	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Smg8	G	A	11: 86,971,086 (GRCm39)	S895L	probably benign	Het
Sorl1	T	C	9: 41,890,686 (GRCm39)	I1944M	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tmprss7	A	T	16: 45,481,252 (GRCm39)	W645R	probably damaging	Het
Tns1	T	C	1: 73,980,176 (GRCm39)	M1111V	probably benign	Het
Ttn	A	C	2: 76,608,726 (GRCm39)	D17763E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	G	A	4: 139,124,839 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,260,588 (GRCm39)	H637R	probably damaging	Het
Vps50	A	C	6: 3,567,739 (GRCm39)	E545A	possibly damaging	Het
Wdfy3	G	T	5: 102,020,724 (GRCm39)	L2527M	probably damaging	Het
Wfdc2	T	C	2: 164,405,354 (GRCm39)	V85A	possibly damaging	Het

Other mutations in Fam117a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02821:Fam117a	APN	11	95,254,815 (GRCm39)	splice site	probably benign
IGL03027:Fam117a	APN	11	95,268,399 (GRCm39)	missense	probably benign	0.00
R0328:Fam117a	UTSW	11	95,266,452 (GRCm39)	splice site	probably benign
R0603:Fam117a	UTSW	11	95,271,699 (GRCm39)	missense	probably damaging	0.99
R1779:Fam117a	UTSW	11	95,269,779 (GRCm39)	missense	probably damaging	1.00
R1941:Fam117a	UTSW	11	95,271,624 (GRCm39)	missense	probably damaging	1.00
R4801:Fam117a	UTSW	11	95,254,896 (GRCm39)	missense	probably damaging	0.99
R4802:Fam117a	UTSW	11	95,254,896 (GRCm39)	missense	probably damaging	0.99
R5328:Fam117a	UTSW	11	95,254,996 (GRCm39)	critical splice donor site	probably null
R6166:Fam117a	UTSW	11	95,271,607 (GRCm39)	missense	possibly damaging	0.89
R6267:Fam117a	UTSW	11	95,254,971 (GRCm39)	missense	possibly damaging	0.93
R6296:Fam117a	UTSW	11	95,254,971 (GRCm39)	missense	possibly damaging	0.93
R7077:Fam117a	UTSW	11	95,268,498 (GRCm39)	missense	probably benign	0.01
R7354:Fam117a	UTSW	11	95,271,529 (GRCm39)	missense	probably damaging	1.00
R7670:Fam117a	UTSW	11	95,269,660 (GRCm39)	missense	probably benign	0.00
R7673:Fam117a	UTSW	11	95,262,322 (GRCm39)	missense	probably benign	0.15
R8176:Fam117a	UTSW	11	95,227,965 (GRCm39)	missense	unknown
R8984:Fam117a	UTSW	11	95,254,823 (GRCm39)	critical splice acceptor site	probably null
R9134:Fam117a	UTSW	11	95,271,745 (GRCm39)	nonsense	probably null
R9250:Fam117a	UTSW	11	95,228,071 (GRCm39)	missense	possibly damaging	0.83
R9367:Fam117a	UTSW	11	95,271,570 (GRCm39)	missense	probably damaging	1.00
R9780:Fam117a	UTSW	11	95,268,309 (GRCm39)	missense	possibly damaging	0.84
Z1088:Fam117a	UTSW	11	95,262,350 (GRCm39)	missense	possibly damaging	0.50
Z1177:Fam117a	UTSW	11	95,265,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTGTCCCTTATAGTCCATAACC -3'
(R):5'- ACATGTTGTTGCTTGCAGAG -3'

Sequencing Primer
(F):5'- GTCCATAACCATGATGCTGTATG -3'
(R):5'- CTGAGAGTCCCCAAAGAGCG -3'

Posted On

2016-09-06