Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02821:Fam117a'

361032

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam117a

Ensembl Gene

ENSMUSG00000038893

Gene Name

family with sequence similarity 117, member A

Synonyms

5730593F17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

IGL02821

Quality Score

Status

Chromosome

Chromosomal Location

95227844-95272698 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 95254815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049162 (fasta)

Gene Model

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

AlphaFold

Q7TNF9

Predicted Effect

probably benign
Transcript: ENSMUST00000037502

SMART Domains

Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893

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: ENSMUST00000129290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143482

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	T	C	14: 35,818,473 (GRCm39)	L157S	probably benign	Het
Adam15	A	G	3: 89,252,663 (GRCm39)	S309P	probably damaging	Het
Agtpbp1	A	T	13: 59,630,415 (GRCm39)	M772K	possibly damaging	Het
Ankfn1	T	C	11: 89,282,442 (GRCm39)	M402V	probably benign	Het
Anln	G	A	9: 22,269,418 (GRCm39)	T822I	possibly damaging	Het
Atp13a4	A	G	16: 29,260,125 (GRCm39)	V589A	probably benign	Het
Ccm2l	C	T	2: 152,909,779 (GRCm39)	L44F	probably damaging	Het
Cd177	A	T	7: 24,443,818 (GRCm39)	L760Q	probably damaging	Het
Cd177	G	T	7: 24,443,819 (GRCm39)	L760M	probably damaging	Het
Cfap69	T	C	5: 5,714,017 (GRCm39)	E5G	probably benign	Het
Col4a1	G	A	8: 11,271,375 (GRCm39)	T753I	probably benign	Het
Col6a3	T	A	1: 90,731,600 (GRCm39)	D1551V	probably damaging	Het
Ddx20	A	G	3: 105,586,593 (GRCm39)	V584A	probably benign	Het
Dop1a	C	A	9: 86,402,209 (GRCm39)	H1136Q	probably benign	Het
Egf	T	C	3: 129,496,128 (GRCm39)	E329G	probably damaging	Het
Eif3c	A	G	7: 126,157,831 (GRCm39)	V337A	probably benign	Het
Eif3f	G	T	7: 108,533,881 (GRCm39)		probably benign	Het
Eif3f	C	T	7: 108,533,882 (GRCm39)		probably benign	Het
Evc	T	A	5: 37,483,740 (GRCm39)	I187F	probably benign	Het
H2-M10.4	A	T	17: 36,771,323 (GRCm39)	V285E	probably damaging	Het
Hps4	G	T	5: 112,523,307 (GRCm39)	M608I	probably benign	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Itgam	A	T	7: 127,675,281 (GRCm39)	M169L	probably damaging	Het
Kcnn3	G	A	3: 89,570,029 (GRCm39)	G614D	possibly damaging	Het
Kcnn3	A	G	3: 89,428,281 (GRCm39)	N169S	possibly damaging	Het
Mn1	A	T	5: 111,569,717 (GRCm39)	K1229M	probably damaging	Het
Ms4a19	A	G	19: 11,118,897 (GRCm39)	*71Q	probably null	Het
Nckap5	A	G	1: 125,955,553 (GRCm39)	M401T	probably damaging	Het
Or1af1	T	C	2: 37,110,112 (GRCm39)	S204P	probably damaging	Het
Or8c13	T	C	9: 38,091,964 (GRCm39)	N52D	possibly damaging	Het
Or8d4	T	G	9: 40,038,561 (GRCm39)	E232A	probably benign	Het
Pttg1ip2	G	A	5: 5,502,039 (GRCm39)	Q138*	probably null	Het
Sim2	G	A	16: 93,898,047 (GRCm39)	V94M	probably damaging	Het
Slc46a3	G	A	5: 147,822,822 (GRCm39)	T340M	probably benign	Het
Ssc4d	A	G	5: 135,994,923 (GRCm39)		probably benign	Het
Trav12-1	A	G	14: 53,775,916 (GRCm39)	D22G	probably damaging	Het
Trgv4	T	A	13: 19,369,422 (GRCm39)	D55E	possibly damaging	Het
Trps1	G	A	15: 50,524,273 (GRCm39)	T969M	probably damaging	Het
Ttn	T	A	2: 76,719,894 (GRCm39)		probably benign	Het
Ubqln4	A	G	3: 88,470,458 (GRCm39)	N310S	probably benign	Het
Vapa	T	C	17: 65,889,756 (GRCm39)		probably benign	Het
Vmn1r65	T	C	7: 6,011,893 (GRCm39)	T114A	possibly damaging	Het
Vps13d	T	C	4: 144,875,332 (GRCm39)	E1725G	probably damaging	Het
Vps53	A	G	11: 76,027,143 (GRCm39)		probably benign	Het
Xkr9	T	C	1: 13,742,799 (GRCm39)	L28P	probably damaging	Het

Other mutations in Fam117a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-12-18