Mutagenetix > Incidental Mutation

Incidental Mutation 'R7354:Fam117a'

570822

Institutional Source

Beutler Lab

Gene Symbol

Fam117a

Ensembl Gene

ENSMUSG00000038893

Gene Name

family with sequence similarity 117, member A

Synonyms

5730593F17Rik

MMRRC Submission

045440-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R7354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95227844-95272698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95271529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 367 (D367G)

Ref Sequence

ENSEMBL: ENSMUSP00000049162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021243] [ENSMUST00000037502] [ENSMUST00000131193] [ENSMUST00000146556] [ENSMUST00000232252]

AlphaFold

Q7TNF9

Predicted Effect

probably benign
Transcript: ENSMUST00000021243

SMART Domains

Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873

Domain	Start	End	E-Value	Type
Pfam:TPT	12	309	1.3e-14	PFAM
Pfam:UAA	13	313	2.1e-58	PFAM
Pfam:EamA	170	309	1.9e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000037502
AA Change: D367G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893
AA Change: D367G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131193

SMART Domains

Protein: ENSMUSP00000125307
Gene: ENSMUSG00000020873

Domain	Start	End	E-Value	Type
Pfam:UAA	14	91	5.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146556

SMART Domains

Protein: ENSMUSP00000125597
Gene: ENSMUSG00000020873

Domain	Start	End	E-Value	Type
low complexity region	14	23	N/A	INTRINSIC
Pfam:EmrE	38	149	3.9e-9	PFAM
Pfam:UAA	46	153	4.5e-30	PFAM
Pfam:EamA	63	146	1.4e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232252

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	T	A	4: 126,311,099 (GRCm39)	Q38L	possibly damaging	Het
Apon	T	A	10: 128,090,607 (GRCm39)	I95N	probably benign	Het
Arid1a	G	T	4: 133,421,258 (GRCm39)	P464Q	unknown	Het
Arid4b	A	G	13: 14,339,455 (GRCm39)	D503G	probably benign	Het
Asxl2	T	C	12: 3,505,637 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,048,028 (GRCm39)	V594D	probably damaging	Het
Begain	A	G	12: 108,999,215 (GRCm39)	F519L	possibly damaging	Het
Bora	A	G	14: 99,284,794 (GRCm39)	T15A	probably damaging	Het
Btbd7	A	T	12: 102,804,464 (GRCm39)	M192K	probably benign	Het
Ccdc125	T	G	13: 100,814,382 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,858,458 (GRCm39)	C1042Y	possibly damaging	Het
Cdcp3	G	T	7: 130,873,762 (GRCm39)	C1696F	unknown	Het
Cfap74	G	T	4: 155,549,804 (GRCm39)	V146L	unknown	Het
Crisp1	G	A	17: 40,630,071 (GRCm39)		probably benign	Het
Ctbp1	A	T	5: 33,407,732 (GRCm39)	H292Q	possibly damaging	Het
Defb5	T	A	8: 19,300,750 (GRCm39)	M34K	probably benign	Het
Dnajc27	A	G	12: 4,146,249 (GRCm39)	I93V	probably benign	Het
Dqx1	T	A	6: 83,037,957 (GRCm39)	Y448*	probably null	Het
Dynap	A	T	18: 70,374,371 (GRCm39)	C52S	possibly damaging	Het
Ehd4	C	A	2: 119,932,613 (GRCm39)	R271L	probably damaging	Het
Ercc2	T	G	7: 19,127,579 (GRCm39)	I619S	possibly damaging	Het
Etf1	A	G	18: 35,039,040 (GRCm39)	I409T	probably damaging	Het
Fancd2	A	G	6: 113,572,907 (GRCm39)	D1447G	unknown	Het
Fbxw9	T	C	8: 85,788,825 (GRCm39)	S192P	probably damaging	Het
Frzb	A	T	2: 80,277,153 (GRCm39)	L11Q	probably damaging	Het
Gm14496	T	C	2: 181,642,479 (GRCm39)	S717P	probably damaging	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gm4353	C	T	7: 115,683,146 (GRCm39)	R145Q	probably benign	Het
Gpr12	A	T	5: 146,520,772 (GRCm39)	V50D	probably damaging	Het
Hes1	T	C	16: 29,884,746 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,682,196 (GRCm39)	C451*	probably null	Het
Iars1	T	C	13: 49,857,796 (GRCm39)	V347A	probably benign	Het
Igfn1	A	G	1: 135,903,770 (GRCm39)	S323P	possibly damaging	Het
Itga6	G	A	2: 71,650,574 (GRCm39)	A207T	probably damaging	Het
Lgi4	T	A	7: 30,760,047 (GRCm39)	L81H	probably damaging	Het
Lrp1	T	C	10: 127,407,277 (GRCm39)	E1888G	probably damaging	Het
Man2a1	C	T	17: 65,059,539 (GRCm39)	T1142M	probably damaging	Het
Mdfic2	T	A	6: 98,215,242 (GRCm39)	D127V	probably damaging	Het
Mgam	A	T	6: 40,721,732 (GRCm39)	Y350F	probably damaging	Het
Miga1	T	C	3: 151,996,137 (GRCm39)	D351G	probably damaging	Het
Mro	A	G	18: 74,006,385 (GRCm39)	T111A	probably benign	Het
Mtrr	A	T	13: 68,714,326 (GRCm39)	V471E	probably damaging	Het
Myh3	C	A	11: 66,987,708 (GRCm39)	L1394I	probably damaging	Het
Myocd	A	G	11: 65,078,319 (GRCm39)	V492A	probably benign	Het
Nbeal2	A	G	9: 110,458,247 (GRCm39)	F2115S	probably damaging	Het
Nlrp1b	A	T	11: 71,072,376 (GRCm39)	M489K	possibly damaging	Het
Or12j5	A	C	7: 140,084,099 (GRCm39)	I91R	probably damaging	Het
Or14j7	A	G	17: 38,235,284 (GRCm39)	I276V	probably benign	Het
Or1e1c	A	T	11: 73,266,201 (GRCm39)	I212F	probably benign	Het
Or4c122	T	C	2: 89,079,031 (GRCm39)		probably null	Het
Or4k44	C	T	2: 111,367,909 (GRCm39)	A242T	possibly damaging	Het
Orc2	A	G	1: 58,508,906 (GRCm39)	S462P	possibly damaging	Het
Pcdh9	T	C	14: 94,125,706 (GRCm39)	T155A	probably benign	Het
Pcdhb16	G	A	18: 37,611,177 (GRCm39)	V46I	possibly damaging	Het
Pcdhb22	A	G	18: 37,653,311 (GRCm39)	D336G	probably damaging	Het
Pde4dip	T	A	3: 97,626,646 (GRCm39)	R1297S	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Plxnb2	A	G	15: 89,049,928 (GRCm39)	M531T	possibly damaging	Het
Poc5	T	C	13: 96,531,033 (GRCm39)	V77A	probably benign	Het
Recql5	G	A	11: 115,819,027 (GRCm39)	R180C	probably damaging	Het
Rho	C	A	6: 115,912,464 (GRCm39)	Y268*	probably null	Het
Riok1	A	T	13: 38,231,288 (GRCm39)	H182L	probably benign	Het
Rnf207	T	C	4: 152,398,548 (GRCm39)	D273G	probably damaging	Het
Serpinb11	A	G	1: 107,305,263 (GRCm39)	Y213C	probably benign	Het
Slc16a10	T	C	10: 39,952,951 (GRCm39)	Y181C	probably damaging	Het
Slc22a15	G	A	3: 101,771,897 (GRCm39)	H401Y	probably benign	Het
Slc5a5	C	A	8: 71,342,247 (GRCm39)	R268L	probably damaging	Het
Slc9a8	T	C	2: 167,316,051 (GRCm39)	F576S	possibly damaging	Het
Slx4	T	C	16: 3,804,963 (GRCm39)	E617G	probably benign	Het
Spata31d1e	A	T	13: 59,889,648 (GRCm39)	L724*	probably null	Het
Top1	T	C	2: 160,546,878 (GRCm39)	I386T	probably damaging	Het
Tor1aip1	G	T	1: 155,911,859 (GRCm39)	D41E	probably damaging	Het
Tsc22d4	G	A	5: 137,766,371 (GRCm39)	R479Q	probably benign	Het
Unc79	C	T	12: 103,108,961 (GRCm39)	T2191I	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,043 (GRCm39)	D771E	probably damaging	Het
Vmn2r82	A	C	10: 79,192,464 (GRCm39)	M14L	probably benign	Het
Zc3h7a	C	T	16: 10,966,378 (GRCm39)	S583N	probably damaging	Het
Zfp518b	G	A	5: 38,840,122 (GRCm39)		probably benign	Het
Zswim4	A	G	8: 84,955,478 (GRCm39)	W314R	probably 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
R5368:Fam117a	UTSW	11	95,266,459 (GRCm39)	missense	probably damaging	0.98
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
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'- CAAAAGTGGCAGAGCTTTCC -3'
(R):5'- TTGGAAGCTTCTGGACCCTTC -3'

Sequencing Primer
(F):5'- CTGTCATTTTGAGCAGGAACCCAG -3'
(R):5'- TTCTGGACCCTTCCGAGGTG -3'

Posted On

2019-09-13