Mutagenetix > Incidental Mutation

Incidental Mutation 'R3021:Fam114a2'

257749

Institutional Source

Beutler Lab

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 #

R3021 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57373819-57409443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57390625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 303 (D303G)

Ref Sequence

ENSEMBL: ENSMUSP00000104478 (fasta)

Gene Model

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

AlphaFold

Q8VE88

Predicted Effect

probably benign
Transcript: ENSMUST00000020831
AA Change: D296G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523
AA Change: D296G

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 benign
Transcript: ENSMUST00000108850
AA Change: D303G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523
AA Change: D303G

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

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1c1	T	C	15: 38,689,460 (GRCm39)	V307A	possibly damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Ccdc85a	T	C	11: 28,526,894 (GRCm39)	E210G	possibly damaging	Het
Dennd1c	C	T	17: 57,381,180 (GRCm39)		probably null	Het
Eng	T	C	2: 32,568,580 (GRCm39)	V474A	probably damaging	Het
Fat1	T	A	8: 45,497,048 (GRCm39)	C4178S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Inpp4b	A	T	8: 82,629,467 (GRCm39)	E267D	possibly damaging	Het
Itch	A	G	2: 155,051,046 (GRCm39)	K578E	possibly damaging	Het
Mttp	T	C	3: 137,817,464 (GRCm39)	M444V	probably benign	Het
Or2a56	T	C	6: 42,933,118 (GRCm39)	S229P	possibly damaging	Het
Pgm3	A	T	9: 86,449,588 (GRCm39)	V144E	possibly damaging	Het
Ppp3cb	A	T	14: 20,573,921 (GRCm39)	Y271*	probably null	Het
Pramel31	T	A	4: 144,088,369 (GRCm39)	M55K	probably damaging	Het
Ptk2b	A	T	14: 66,415,632 (GRCm39)		probably null	Het
Rdh1	G	A	10: 127,596,077 (GRCm39)	V91M	possibly damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Smad2	T	G	18: 76,395,703 (GRCm39)	S47R	probably damaging	Het
Smchd1	G	T	17: 71,694,093 (GRCm39)	S1217R	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCATTATATGTATGTATTGCCAGG -3'
(R):5'- AGCACACCATTTTGTTTGTTTG -3'

Sequencing Primer
(F):5'- TTCAGCCTCCGAAGTGGTG -3'
(R):5'- AGACAGGGTTTCTCTGTATAGCCC -3'

Posted On

2015-01-11