Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00655:Fam114a2'

10614

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: 0.147) question?

Stock #

IGL00655

Quality Score

Status

Chromosome

Chromosomal Location

57373819-57409443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57378413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 451 (I451F)

Ref Sequence

ENSEMBL: ENSMUSP00000104478 (fasta)

Gene Model

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

AlphaFold

Q8VE88

Predicted Effect

probably damaging
Transcript: ENSMUST00000020831
AA Change: I444F

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

SMART Domains

Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523
AA Change: I444F

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 damaging
Transcript: ENSMUST00000108850
AA Change: I451F

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

SMART Domains

Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523
AA Change: I451F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	G	A	4: 49,383,250 (GRCm39)	P101L	probably damaging	Het
Akap13	A	G	7: 75,354,146 (GRCm39)	K1756E	probably damaging	Het
Anp32a	T	A	9: 62,278,994 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,937,216 (GRCm39)		probably null	Het
Fbxw22	T	C	9: 109,211,312 (GRCm39)		probably benign	Het
Fndc3b	C	T	3: 27,592,161 (GRCm39)	G246R	probably benign	Het
Gcc1	C	T	6: 28,421,197 (GRCm39)	R40H	possibly damaging	Het
Lig4	A	T	8: 10,023,305 (GRCm39)	N158K	probably benign	Het
Nxph2	A	G	2: 23,290,153 (GRCm39)	I168M	possibly damaging	Het
Ropn1	G	T	16: 34,498,790 (GRCm39)	G193C	probably damaging	Het
Tnni3k	T	A	3: 154,760,192 (GRCm39)	I48F	probably benign	Het
Tuft1	T	A	3: 94,530,091 (GRCm39)	E184D	possibly damaging	Het
Usp24	A	G	4: 106,247,515 (GRCm39)	T1414A	probably damaging	Het

Other mutations in Fam114a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Fam114a2	APN	11	57,405,099 (GRCm39)	start codon destroyed	probably null	1.00
IGL01809:Fam114a2	APN	11	57,404,461 (GRCm39)	critical splice donor site	probably null
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

2012-12-06