Mutagenetix > Incidental Mutation

Incidental Mutation 'R0603:Fam117a'

55560

Institutional Source

Beutler Lab

Gene Symbol

Fam117a

Ensembl Gene

ENSMUSG00000038893

Gene Name

family with sequence similarity 117, member A

Synonyms

5730593F17Rik

MMRRC Submission

038792-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

R0603 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

95227844-95272698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95271699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 424 (K424E)

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: K424E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893
AA Change: K424E

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

noncoding transcript
Transcript: ENSMUST00000141284

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

noncoding transcript
Transcript: ENSMUST00000155999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189860

Predicted Effect

probably benign
Transcript: ENSMUST00000232252

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc7	A	G	5: 122,578,233 (GRCm39)	N406S	probably benign	Het
Arhgap4	C	T	X: 72,950,389 (GRCm39)	R54Q	probably damaging	Het
Asb15	T	A	6: 24,556,556 (GRCm39)	I17N	probably damaging	Het
Atp8a1	T	C	5: 67,914,039 (GRCm39)		probably null	Het
Caprin1	A	G	2: 103,627,146 (GRCm39)	V47A	probably benign	Het
Col4a2	T	C	8: 11,464,779 (GRCm39)	V348A	probably benign	Het
Disp2	A	G	2: 118,622,487 (GRCm39)	K1073R	probably damaging	Het
Dmxl2	G	A	9: 54,313,190 (GRCm39)	H1686Y	possibly damaging	Het
Dzank1	C	T	2: 144,353,432 (GRCm39)	V152I	probably benign	Het
Elp1	A	T	4: 56,792,105 (GRCm39)	I221N	possibly damaging	Het
Evl	T	A	12: 108,614,681 (GRCm39)	I25N	probably damaging	Het
Gm17732	C	T	18: 62,795,823 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,820,480 (GRCm39)	I659T	possibly damaging	Het
Hectd4	T	A	5: 121,442,400 (GRCm39)	V1280E	possibly damaging	Het
Irs4	T	C	X: 140,508,071 (GRCm39)	T42A	probably damaging	Het
Kdm4a	C	T	4: 117,999,708 (GRCm39)	V905I	probably damaging	Het
Lmtk3	T	A	7: 45,444,980 (GRCm39)		probably benign	Het
Lsp1	G	A	7: 142,043,115 (GRCm39)	R221H	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mmut	A	T	17: 41,258,057 (GRCm39)	I408F	probably damaging	Het
Nckap1	A	T	2: 80,343,073 (GRCm39)	V942E	probably benign	Het
Neto1	T	A	18: 86,491,785 (GRCm39)	C229S	possibly damaging	Het
Nipal2	A	G	15: 34,650,544 (GRCm39)	I63T	probably damaging	Het
Or11g2	T	C	14: 50,855,967 (GRCm39)	I96T	probably damaging	Het
Or1af1	G	A	2: 37,110,118 (GRCm39)	V206I	probably damaging	Het
Or4k49	A	T	2: 111,495,225 (GRCm39)	Y218F	probably damaging	Het
Or7e165	A	T	9: 19,695,235 (GRCm39)	R269W	probably damaging	Het
Or8g36	C	A	9: 39,422,810 (GRCm39)	V69F	possibly damaging	Het
Pgpep1	T	C	8: 71,103,283 (GRCm39)	E120G	probably benign	Het
Pkhd1	A	T	1: 20,187,397 (GRCm39)	M3637K	probably benign	Het
Pkm	T	C	9: 59,573,164 (GRCm39)	V58A	probably damaging	Het
Ppp2r1b	C	A	9: 50,772,985 (GRCm39)	T154K	probably damaging	Het
Rgs18	T	A	1: 144,631,818 (GRCm39)	D98V	possibly damaging	Het
Rsph6a	G	T	7: 18,799,886 (GRCm39)	A506S	possibly damaging	Het
Selenop	T	A	15: 3,305,183 (GRCm39)	V113E	probably damaging	Het
Slc6a11	G	A	6: 114,221,851 (GRCm39)	V514M	probably benign	Het
Srsf9	C	T	5: 115,470,696 (GRCm39)	S132L	probably damaging	Het
Tchh	G	A	3: 93,351,088 (GRCm39)	R176H	possibly damaging	Het
Tcp11	T	C	17: 28,286,784 (GRCm39)	N405S	probably damaging	Het
Tle1	A	C	4: 72,036,584 (GRCm39)	D760E	probably damaging	Het
Tmem178	A	G	17: 81,252,488 (GRCm39)	D124G	possibly damaging	Het
Trabd	G	A	15: 88,966,929 (GRCm39)	E118K	probably damaging	Het
Ttc39a	A	G	4: 109,283,499 (GRCm39)	D115G	probably damaging	Het
Uaca	T	A	9: 60,778,379 (GRCm39)	M920K	possibly damaging	Het
Uba2	A	T	7: 33,861,038 (GRCm39)	M5K	probably damaging	Het
Unc5c	C	T	3: 141,476,863 (GRCm39)	P343L	probably damaging	Het
Wdhd1	T	C	14: 47,501,043 (GRCm39)	D453G	probably damaging	Het
Wfdc8	A	G	2: 164,445,145 (GRCm39)	Y157H	probably damaging	Het
Zbbx	T	G	3: 74,985,757 (GRCm39)	K432Q	probably benign	Het
Zeb2	G	A	2: 44,907,438 (GRCm39)	T169M	probably benign	Het
Zfp956	A	G	6: 47,932,962 (GRCm39)	E79G	probably damaging	Het
Zzef1	G	A	11: 72,708,895 (GRCm39)	V165I	probably benign	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
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
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'- ACAAAGTCCATTTCAACCCGACTGG -3'
(R):5'- ACACAAGTGTAAGTTGTGAGCTGCC -3'

Sequencing Primer
(F):5'- GACTGGCTCCGCCTTCTG -3'
(R):5'- GAGGTAAGTCTCCTCCCTGTG -3'

Posted On

2013-07-11