Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02388:Fam114a1'

291654

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam114a1

Ensembl Gene

ENSMUSG00000029185

Gene Name

family with sequence similarity 114, member A1

Synonyms

1190001N04Rik, 9130005N14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02388

Quality Score

Status

Chromosome

Chromosomal Location

65127459-65199217 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 65166323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031080] [ENSMUST00000139366]

AlphaFold

Q9D281

Predicted Effect

probably benign
Transcript: ENSMUST00000031080

SMART Domains

Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185

Domain	Start	End	E-Value	Type
Pfam:DUF719	125	300	5e-65	PFAM
low complexity region	355	365	N/A	INTRINSIC
low complexity region	413	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139366

SMART Domains

Protein: ENSMUSP00000119284
Gene: ENSMUSG00000029185

Domain	Start	End	E-Value	Type
Pfam:DUF719	121	177	7e-16	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930597O21Rik	A	T	6: 66,873,097 (GRCm39)		probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Asphd1	A	T	7: 126,545,884 (GRCm39)		probably benign	Het
Ccdc77	G	A	6: 120,308,858 (GRCm39)	A301V	probably benign	Het
Cep350	G	T	1: 155,829,499 (GRCm39)	T135K	probably benign	Het
Chrna7	A	T	7: 62,757,439 (GRCm39)	D153E	probably damaging	Het
Clec4b2	G	T	6: 123,179,187 (GRCm39)		probably null	Het
Cyp2c67	T	C	19: 39,631,799 (GRCm39)	N133D	probably benign	Het
Dglucy	T	C	12: 100,823,257 (GRCm39)	I484T	probably damaging	Het
Dtna	G	T	18: 23,730,571 (GRCm39)	M319I	probably benign	Het
E2f5	T	A	3: 14,653,340 (GRCm39)	M152K	probably benign	Het
Emsy	A	T	7: 98,290,873 (GRCm39)	M58K	probably damaging	Het
Epha1	A	G	6: 42,341,950 (GRCm39)	Y367H	probably damaging	Het
Etv1	A	G	12: 38,831,798 (GRCm39)	S32G	possibly damaging	Het
Fbxo30	T	A	10: 11,166,122 (GRCm39)	N281K	probably benign	Het
Galnt12	G	T	4: 47,117,941 (GRCm39)	R412L	probably damaging	Het
Gm5786	T	A	12: 59,128,382 (GRCm39)		noncoding transcript	Het
Gm9845	T	C	3: 39,412,616 (GRCm39)		noncoding transcript	Het
Hecw2	A	G	1: 53,964,858 (GRCm39)	V656A	probably benign	Het
Hpse2	A	T	19: 43,282,692 (GRCm39)	V187D	probably damaging	Het
Itsn2	T	A	12: 4,679,557 (GRCm39)	M122K	possibly damaging	Het
Kcnj11	A	G	7: 45,749,213 (GRCm39)	S37P	probably benign	Het
Kif13b	T	C	14: 65,037,807 (GRCm39)	I1491T	probably damaging	Het
Krt36	T	A	11: 99,995,990 (GRCm39)	K145*	probably null	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mical2	C	A	7: 111,934,620 (GRCm39)	H880N	probably benign	Het
Myo1d	A	T	11: 80,528,823 (GRCm39)	C666*	probably null	Het
Nlrx1	C	T	9: 44,175,302 (GRCm39)	R158H	probably benign	Het
Or10ag53	T	A	2: 87,082,295 (GRCm39)	Y5N	probably benign	Het
Or10q1	C	A	19: 13,726,994 (GRCm39)	H175N	possibly damaging	Het
Or13a17	A	G	7: 140,271,024 (GRCm39)	T69A	probably benign	Het
Or1e21	A	T	11: 73,344,106 (GRCm39)	L311I	probably benign	Het
Or4a78	T	C	2: 89,497,316 (GRCm39)	S305G	probably benign	Het
Pdgfrl	A	G	8: 41,430,094 (GRCm39)	R154G	probably benign	Het
Pitpnb	T	C	5: 111,478,699 (GRCm39)	F7S	possibly damaging	Het
Ppm1n	G	A	7: 19,013,097 (GRCm39)	R285C	probably damaging	Het
Prdm11	A	T	2: 92,805,957 (GRCm39)	I331N	possibly damaging	Het
Ptprb	C	T	10: 116,203,426 (GRCm39)	P2066L	probably damaging	Het
Ric8b	T	C	10: 84,828,135 (GRCm39)		probably benign	Het
Setx	A	G	2: 29,063,665 (GRCm39)	I2320M	probably damaging	Het
Skil	C	A	3: 31,165,787 (GRCm39)	S368*	probably null	Het
Slc1a5	G	T	7: 16,519,644 (GRCm39)		probably null	Het
Trpm7	A	C	2: 126,661,811 (GRCm39)	V1079G	possibly damaging	Het
Tulp1	A	G	17: 28,577,633 (GRCm39)	F2L	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Zbtb17	A	G	4: 141,189,224 (GRCm39)	Y48C	probably damaging	Het
Zfp605	T	A	5: 110,275,506 (GRCm39)	I208N	possibly damaging	Het

Other mutations in Fam114a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Fam114a1	APN	5	65,137,347 (GRCm39)	missense	probably benign	0.31
IGL01013:Fam114a1	APN	5	65,188,738 (GRCm39)	critical splice donor site	probably null
IGL02032:Fam114a1	APN	5	65,172,714 (GRCm39)	missense	probably benign	0.11
IGL02117:Fam114a1	APN	5	65,187,465 (GRCm39)	missense	probably benign	0.08
IGL02563:Fam114a1	APN	5	65,163,491 (GRCm39)	splice site	probably null
IGL02803:Fam114a1	APN	5	65,163,135 (GRCm39)	splice site	probably benign
R1183:Fam114a1	UTSW	5	65,191,731 (GRCm39)	missense	probably damaging	1.00
R2073:Fam114a1	UTSW	5	65,153,247 (GRCm39)	critical splice donor site	probably null
R2086:Fam114a1	UTSW	5	65,137,402 (GRCm39)	missense	probably benign	0.39
R3834:Fam114a1	UTSW	5	65,163,416 (GRCm39)	missense	possibly damaging	0.65
R4519:Fam114a1	UTSW	5	65,163,225 (GRCm39)	missense	probably benign
R4749:Fam114a1	UTSW	5	65,166,409 (GRCm39)	missense	probably damaging	1.00
R4937:Fam114a1	UTSW	5	65,137,070 (GRCm39)	missense	probably damaging	0.97
R5038:Fam114a1	UTSW	5	65,166,388 (GRCm39)	missense	probably damaging	1.00
R5096:Fam114a1	UTSW	5	65,137,234 (GRCm39)	missense	probably benign
R5368:Fam114a1	UTSW	5	65,163,452 (GRCm39)	missense	possibly damaging	0.52
R5460:Fam114a1	UTSW	5	65,185,776 (GRCm39)	missense	probably damaging	0.99
R5734:Fam114a1	UTSW	5	65,166,389 (GRCm39)	missense	probably damaging	1.00
R6242:Fam114a1	UTSW	5	65,188,695 (GRCm39)	missense	probably damaging	0.98
R6950:Fam114a1	UTSW	5	65,137,322 (GRCm39)	missense	possibly damaging	0.88
R7460:Fam114a1	UTSW	5	65,196,050 (GRCm39)	missense	possibly damaging	0.51
R7570:Fam114a1	UTSW	5	65,187,402 (GRCm39)	splice site	probably null
R8913:Fam114a1	UTSW	5	65,185,821 (GRCm39)	missense	possibly damaging	0.77
R9095:Fam114a1	UTSW	5	65,188,733 (GRCm39)	missense	probably benign	0.08
R9171:Fam114a1	UTSW	5	65,191,713 (GRCm39)	critical splice acceptor site	probably null
R9203:Fam114a1	UTSW	5	65,137,300 (GRCm39)	missense	probably damaging	1.00
R9318:Fam114a1	UTSW	5	65,153,227 (GRCm39)	missense	possibly damaging	0.77
R9640:Fam114a1	UTSW	5	65,166,394 (GRCm39)	missense	probably damaging	0.99
R9656:Fam114a1	UTSW	5	65,163,246 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16