Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01809:Fam114a2'

155780

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam114a2

Ensembl Gene

ENSMUSG00000020523

Gene Name

family with sequence similarity 114, member A2

Synonyms

9030624B09Rik, 1810073G14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL01809

Quality Score

Status

Chromosome

Chromosomal Location

57373819-57409443 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 57404461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020831] [ENSMUST00000108850]

AlphaFold

Q8VE88

Predicted Effect

probably null
Transcript: ENSMUST00000020831

SMART Domains

Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523

Domain	Start	End	E-Value	Type
Pfam:DUF719	68	236	5e-72	PFAM
low complexity region	263	275	N/A	INTRINSIC
low complexity region	338	355	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108850

SMART Domains

Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523

Domain	Start	End	E-Value	Type
Pfam:DUF719	77	243	4.5e-71	PFAM
low complexity region	270	282	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130596

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,240,339 (GRCm39)	N734I	probably damaging	Het
Abi1	T	C	2: 22,836,729 (GRCm39)	I371V	probably benign	Het
Atp8b3	A	G	10: 80,355,845 (GRCm39)	F1289S	probably benign	Het
Brca2	T	A	5: 150,454,526 (GRCm39)		probably null	Het
C8a	A	T	4: 104,703,139 (GRCm39)	I306N	probably benign	Het
Crybg3	G	T	16: 59,345,216 (GRCm39)		probably benign	Het
Disp2	T	A	2: 118,617,745 (GRCm39)		probably benign	Het
Dtl	A	G	1: 191,280,415 (GRCm39)	F373S	probably damaging	Het
Dynlt1a	G	A	17: 6,361,147 (GRCm39)		probably null	Het
Dyrk1a	G	A	16: 94,460,476 (GRCm39)	R44H	probably benign	Het
Fsip2	A	G	2: 82,808,691 (GRCm39)	E1670G	possibly damaging	Het
Gbp10	A	T	5: 105,365,225 (GRCm39)	N594K	probably benign	Het
Gpam	T	A	19: 55,064,057 (GRCm39)	K679*	probably null	Het
Gtf2i	A	T	5: 134,278,804 (GRCm39)	V524E	probably damaging	Het
Itpr2	T	A	6: 146,129,079 (GRCm39)	E2011D	probably damaging	Het
Jag1	C	A	2: 136,957,404 (GRCm39)	G103W	probably damaging	Het
Klkb1	A	T	8: 45,729,090 (GRCm39)	V378E	probably benign	Het
Lyst	T	A	13: 13,812,388 (GRCm39)	S933R	probably damaging	Het
Man2b2	T	C	5: 36,971,860 (GRCm39)	S619G	probably benign	Het
Mex3b	T	C	7: 82,518,920 (GRCm39)	S412P	probably benign	Het
Mtf2	A	G	5: 108,235,191 (GRCm39)	I36V	probably benign	Het
Nckipsd	T	C	9: 108,694,753 (GRCm39)	Y652H	probably damaging	Het
Or5ak24	A	G	2: 85,260,498 (GRCm39)	L225P	probably damaging	Het
Or5w13	T	C	2: 87,524,089 (GRCm39)	I46V	possibly damaging	Het
Or8b12i	A	G	9: 20,082,591 (GRCm39)	I92T	probably damaging	Het
Or8g53	A	T	9: 39,683,990 (GRCm39)	Y35*	probably null	Het
Phykpl	T	C	11: 51,490,351 (GRCm39)	F411L	probably benign	Het
Rbm8a	T	A	3: 96,538,853 (GRCm39)	F101I	probably damaging	Het
Rbp3	G	T	14: 33,677,257 (GRCm39)	G402W	probably damaging	Het
Recql4	G	A	15: 76,593,070 (GRCm39)	R254*	probably null	Het
Rsph14	G	A	10: 74,793,618 (GRCm39)		probably benign	Het
Stau2	A	T	1: 16,510,539 (GRCm39)		probably null	Het
Tmprss11c	G	A	5: 86,385,521 (GRCm39)	S304L	possibly damaging	Het
Vipr1	T	G	9: 121,490,506 (GRCm39)	M184R	possibly damaging	Het
Zfp106	G	A	2: 120,364,152 (GRCm39)	R752C	probably damaging	Het

Other mutations in Fam114a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Fam114a2	APN	11	57,378,413 (GRCm39)	missense	probably damaging	1.00
IGL00943:Fam114a2	APN	11	57,405,099 (GRCm39)	start codon destroyed	probably null	1.00
IGL01972:Fam114a2	APN	11	57,400,220 (GRCm39)	missense	probably damaging	1.00
IGL02541:Fam114a2	APN	11	57,390,627 (GRCm39)	missense	probably benign	0.41
R0010:Fam114a2	UTSW	11	57,404,982 (GRCm39)	missense	probably damaging	1.00
R1594:Fam114a2	UTSW	11	57,404,066 (GRCm39)	critical splice donor site	probably null
R1645:Fam114a2	UTSW	11	57,390,621 (GRCm39)	missense	probably benign	0.00
R2426:Fam114a2	UTSW	11	57,383,906 (GRCm39)	missense	probably benign	0.00
R3021:Fam114a2	UTSW	11	57,390,625 (GRCm39)	missense	probably benign	0.01
R3107:Fam114a2	UTSW	11	57,390,561 (GRCm39)	missense	probably benign	0.39
R6149:Fam114a2	UTSW	11	57,378,415 (GRCm39)	missense	probably benign	0.05
R6248:Fam114a2	UTSW	11	57,383,942 (GRCm39)	missense	possibly damaging	0.51
R6306:Fam114a2	UTSW	11	57,404,972 (GRCm39)	missense	probably damaging	1.00
R6933:Fam114a2	UTSW	11	57,374,897 (GRCm39)	missense	probably benign	0.04
R7485:Fam114a2	UTSW	11	57,404,515 (GRCm39)	missense	probably damaging	1.00
R7486:Fam114a2	UTSW	11	57,404,515 (GRCm39)	missense	probably damaging	1.00
R7487:Fam114a2	UTSW	11	57,404,515 (GRCm39)	missense	probably damaging	1.00
R7531:Fam114a2	UTSW	11	57,404,542 (GRCm39)	missense	probably benign
R7601:Fam114a2	UTSW	11	57,405,042 (GRCm39)	missense	possibly damaging	0.62
R7662:Fam114a2	UTSW	11	57,398,391 (GRCm39)	missense	probably damaging	1.00
R8033:Fam114a2	UTSW	11	57,398,333 (GRCm39)	missense	probably damaging	0.99
R9335:Fam114a2	UTSW	11	57,397,748 (GRCm39)	missense	possibly damaging	0.94
RF024:Fam114a2	UTSW	11	57,383,859 (GRCm39)	missense	probably benign	0.00
Z1177:Fam114a2	UTSW	11	57,404,084 (GRCm39)	missense	probably benign	0.05
Z1186:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1186:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1186:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1186:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1186:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1187:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1187:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1187:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1187:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1187:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1188:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1188:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1188:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1188:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1188:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1189:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1189:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1189:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1189:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1189:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1190:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1190:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1190:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1190:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1190:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1191:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1191:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1191:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1191:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1191:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1192:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1192:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1192:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1192:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1192:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign

Posted On

2014-02-04