Mutagenetix > Incidental Mutation

Incidental Mutation 'R5287:Tfap2e'

424397

Institutional Source

Beutler Lab

Gene Symbol

Tfap2e

Ensembl Gene

ENSMUSG00000042477

Gene Name

transcription factor AP-2, epsilon

Synonyms

AP-2e, Tcfap2e

MMRRC Submission

042871-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.407) question?

Stock #

R5287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126609799-126630033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126628439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 172 (I172M)

Ref Sequence

ENSEMBL: ENSMUSP00000035902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048194]

AlphaFold

Q6VUP9

Predicted Effect

probably benign
Transcript: ENSMUST00000048194
AA Change: I172M

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

SMART Domains

Protein: ENSMUSP00000035902
Gene: ENSMUSG00000042477
AA Change: I172M

Domain	Start	End	E-Value	Type
low complexity region	50	70	N/A	INTRINSIC
low complexity region	87	109	N/A	INTRINSIC
low complexity region	113	130	N/A	INTRINSIC
low complexity region	143	169	N/A	INTRINSIC
Pfam:TF_AP-2	214	421	3.3e-96	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired olfactory bulb neuronal layer development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	C	2: 93,666,298 (GRCm39)	D463G	probably damaging	Het
Acsbg3	G	T	17: 57,183,221 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,588,001 (GRCm39)	V929I	probably benign	Het
Anp32a	A	T	9: 62,249,275 (GRCm39)	I16F	possibly damaging	Het
Arpin	T	C	7: 79,577,997 (GRCm39)	E144G	probably damaging	Het
Asb18	T	C	1: 89,942,110 (GRCm39)	T64A	probably benign	Het
Asxl2	A	G	12: 3,546,893 (GRCm39)	N559S	probably benign	Het
Brd7	G	T	8: 89,084,169 (GRCm39)	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,711,201 (GRCm39)	W336R	probably benign	Het
Btnl9	A	G	11: 49,060,434 (GRCm39)	V438A	probably benign	Het
Cat	T	C	2: 103,304,705 (GRCm39)	T107A	probably damaging	Het
Catsperg2	T	C	7: 29,397,263 (GRCm39)	Y1080C	possibly damaging	Het
Ccdc138	T	A	10: 58,411,527 (GRCm39)	F632I	possibly damaging	Het
Cd46	C	T	1: 194,744,719 (GRCm39)	V340I	possibly damaging	Het
Celf1	T	C	2: 90,839,552 (GRCm39)	S326P	possibly damaging	Het
Ces1e	T	G	8: 93,935,240 (GRCm39)	D404A	probably benign	Het
Chd3	A	T	11: 69,239,895 (GRCm39)		probably null	Het
Clhc1	A	G	11: 29,528,244 (GRCm39)		probably benign	Het
Cops8	C	T	1: 90,534,342 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Csmd2	C	T	4: 128,380,677 (GRCm39)	R2078C	probably benign	Het
Dnm1l	A	C	16: 16,151,732 (GRCm39)	V240G	probably damaging	Het
Fezf1	C	T	6: 23,248,010 (GRCm39)	V22M	probably benign	Het
Gm6818	T	G	7: 38,099,911 (GRCm39)		noncoding transcript	Het
Hand2	C	T	8: 57,775,080 (GRCm39)	L47F	probably damaging	Het
Insyn2b	A	T	11: 34,353,058 (GRCm39)	T367S	probably benign	Het
Itga7	C	A	10: 128,779,027 (GRCm39)	R351S	probably benign	Het
Mmp8	G	T	9: 7,567,507 (GRCm39)	A456S	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Opn4	T	C	14: 34,314,894 (GRCm39)	T460A	probably benign	Het
Or6b2	A	T	1: 92,408,019 (GRCm39)	V108E	possibly damaging	Het
Otog	T	C	7: 45,918,753 (GRCm39)	F943S	probably damaging	Het
Pcnx1	A	T	12: 82,028,825 (GRCm39)	Y1668F	probably damaging	Het
Pheta1	A	G	5: 121,990,794 (GRCm39)	E52G	possibly damaging	Het
Phf24	A	T	4: 42,933,831 (GRCm39)		probably null	Het
Phkg2	GCTGCCGGACGAGTGGCCT	GCT	7: 127,181,929 (GRCm39)		probably null	Het
Ppargc1a	G	A	5: 51,620,167 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 75,872,405 (GRCm39)	R1355*	probably null	Het
Ptprn2	A	T	12: 117,175,482 (GRCm39)	M721L	probably damaging	Het
Sec23ip	A	G	7: 128,367,860 (GRCm39)	E624G	probably benign	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Snrnp200	T	C	2: 127,073,607 (GRCm39)	V1335A	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Spdye4c	T	C	2: 128,434,560 (GRCm39)	S46P	possibly damaging	Het
Syde1	T	C	10: 78,425,871 (GRCm39)	R99G	probably benign	Het
T2	A	T	17: 8,636,835 (GRCm39)	M57L	probably benign	Het
Tasor2	G	A	13: 3,625,744 (GRCm39)	S1402L	probably benign	Het
Tk1	A	T	11: 117,707,367 (GRCm39)	V140E	probably damaging	Het
Tln2	G	A	9: 67,149,641 (GRCm39)	T1192M	probably damaging	Het
Tmed8	C	A	12: 87,220,957 (GRCm39)	A210S	probably damaging	Het
Tnip2	A	G	5: 34,671,108 (GRCm39)	L45P	probably damaging	Het
Ttc3	T	C	16: 94,260,703 (GRCm39)	V1396A	probably benign	Het
Ttn	G	T	2: 76,562,436 (GRCm39)	S28803Y	probably damaging	Het
Wdr90	A	T	17: 26,080,441 (GRCm39)		probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het

Other mutations in Tfap2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5135:Tfap2e	UTSW	4	126,614,337 (GRCm39)	missense	probably damaging	1.00
R5187:Tfap2e	UTSW	4	126,628,434 (GRCm39)	missense	probably benign	0.02
R5403:Tfap2e	UTSW	4	126,628,439 (GRCm39)	missense	probably benign
R6272:Tfap2e	UTSW	4	126,615,657 (GRCm39)	missense	probably damaging	1.00
R7108:Tfap2e	UTSW	4	126,614,356 (GRCm39)	missense	probably damaging	1.00
R7638:Tfap2e	UTSW	4	126,615,727 (GRCm39)	missense	probably damaging	1.00
Z1176:Tfap2e	UTSW	4	126,613,331 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATTATCCAGCTAGCGCCATG -3'
(R):5'- CAATCATCCAGGCAGTGCTG -3'

Sequencing Primer
(F):5'- TAGCGCCATGGCCTCTC -3'
(R):5'- GCTGCAGCTTAGACGCATATG -3'

Posted On

2016-08-04