Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02666:Tfap2d'

302728

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tfap2d

Ensembl Gene

ENSMUSG00000042596

Gene Name

transcription factor AP-2, delta

Synonyms

Tcfap2d

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02666

Quality Score

Status

Chromosome

Chromosomal Location

19173246-19236570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 19174979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 144 (D144A)

Ref Sequence

ENSEMBL: ENSMUSP00000037699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037294]

AlphaFold

Q91ZK0

Predicted Effect

probably benign
Transcript: ENSMUST00000037294
AA Change: D144A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: D144A

Domain	Start	End	E-Value	Type
low complexity region	41	53	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC
low complexity region	162	181	N/A	INTRINSIC
Pfam:TF_AP-2	209	409	3.3e-91	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159108

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit loss of inferior colliculus due to apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,138,944 (GRCm39)		noncoding transcript	Het
Abca15	G	A	7: 119,934,431 (GRCm39)	V136M	probably damaging	Het
Abhd3	A	G	18: 10,645,148 (GRCm39)	I382T	probably benign	Het
Cux1	C	A	5: 136,304,169 (GRCm39)	E1336*	probably null	Het
Cyb5r3	T	C	15: 83,044,554 (GRCm39)	I155V	probably damaging	Het
Ddx24	T	C	12: 103,390,314 (GRCm39)	T226A	possibly damaging	Het
Dld	T	C	12: 31,382,408 (GRCm39)	N465S	probably null	Het
Dnmbp	A	G	19: 43,842,566 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,818,111 (GRCm39)	H1580R	probably benign	Het
Drd3	C	A	16: 43,637,319 (GRCm39)		probably benign	Het
Gabrb2	G	T	11: 42,420,322 (GRCm39)		probably null	Het
Gbp9	T	C	5: 105,242,141 (GRCm39)		probably null	Het
Inhba	A	T	13: 16,201,664 (GRCm39)	I409F	possibly damaging	Het
Iqgap2	T	C	13: 95,764,564 (GRCm39)	N1560S	probably damaging	Het
Itsn1	A	G	16: 91,617,606 (GRCm39)		probably benign	Het
Kat6b	T	C	14: 21,678,938 (GRCm39)	F434L	probably damaging	Het
Klra1	A	G	6: 130,341,278 (GRCm39)	C232R	probably damaging	Het
Krt18	T	A	15: 101,938,302 (GRCm39)	I175N	probably damaging	Het
Lck	A	G	4: 129,450,212 (GRCm39)	V178A	probably damaging	Het
Mroh4	C	A	15: 74,481,624 (GRCm39)	G737V	probably benign	Het
Mug2	A	C	6: 122,058,285 (GRCm39)	L1282F	probably damaging	Het
Myo9a	A	G	9: 59,832,187 (GRCm39)	N2572S	probably benign	Het
Nup88	G	T	11: 70,834,695 (GRCm39)		probably benign	Het
Nxph3	G	T	11: 95,401,834 (GRCm39)	H193Q	possibly damaging	Het
Or5b97	G	T	19: 12,878,221 (GRCm39)	H308N	probably benign	Het
Orm2	A	G	4: 63,283,970 (GRCm39)	T198A	possibly damaging	Het
Pom121	T	C	5: 135,415,686 (GRCm39)	I397V	unknown	Het
Prex1	C	A	2: 166,414,909 (GRCm39)	E1313D	probably benign	Het
Prkg2	T	A	5: 99,145,378 (GRCm39)		probably benign	Het
Prl2a1	A	T	13: 27,990,310 (GRCm39)	K86N	possibly damaging	Het
Ptpro	G	A	6: 137,355,057 (GRCm39)	S188N	probably damaging	Het
Ptprz1	A	T	6: 23,001,209 (GRCm39)	I1100F	probably benign	Het
Ryr1	C	A	7: 28,719,188 (GRCm39)	M4406I	unknown	Het
Sdf4	T	A	4: 156,093,281 (GRCm39)	Y204*	probably null	Het
Serinc1	A	T	10: 57,400,089 (GRCm39)		probably null	Het
Slc39a5	C	T	10: 128,234,324 (GRCm39)	R193H	probably damaging	Het
Smad9	A	G	3: 54,689,888 (GRCm39)	K36R	probably damaging	Het
Spam1	T	A	6: 24,796,123 (GRCm39)	L25I	possibly damaging	Het
Stab2	A	T	10: 86,686,766 (GRCm39)	S809R	possibly damaging	Het
Szt2	G	A	4: 118,231,252 (GRCm39)	R35C	probably damaging	Het
Tcaf2	C	A	6: 42,606,058 (GRCm39)		probably benign	Het
Tmprss11d	A	T	5: 86,479,052 (GRCm39)	V117D	probably damaging	Het
Tnxb	A	G	17: 34,903,913 (GRCm39)	D1141G	probably benign	Het
Traf6	A	T	2: 101,527,512 (GRCm39)	T421S	possibly damaging	Het
Txndc16	G	A	14: 45,448,607 (GRCm39)		probably benign	Het
Utp25	G	A	1: 192,789,904 (GRCm39)	Q752*	probably null	Het
Vmn1r73	C	A	7: 11,490,865 (GRCm39)	P228T	probably damaging	Het
Vmn2r4	A	G	3: 64,296,433 (GRCm39)	I784T	probably benign	Het
Zfp420	A	G	7: 29,573,795 (GRCm39)	D5G	probably benign	Het

Other mutations in Tfap2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Tfap2d	APN	1	19,213,105 (GRCm39)	missense	probably benign	0.44
IGL00837:Tfap2d	APN	1	19,189,430 (GRCm39)	missense	probably damaging	1.00
IGL01370:Tfap2d	APN	1	19,175,009 (GRCm39)	missense	probably damaging	0.96
IGL01470:Tfap2d	APN	1	19,218,620 (GRCm39)	missense	probably damaging	0.98
IGL01757:Tfap2d	APN	1	19,174,804 (GRCm39)	missense	probably benign
IGL01986:Tfap2d	APN	1	19,189,383 (GRCm39)	splice site	probably benign
IGL02613:Tfap2d	APN	1	19,189,415 (GRCm39)	missense	probably damaging	1.00
IGL02812:Tfap2d	APN	1	19,213,151 (GRCm39)	missense	possibly damaging	0.84
IGL02900:Tfap2d	APN	1	19,189,474 (GRCm39)	missense	probably damaging	1.00
IGL03184:Tfap2d	APN	1	19,189,110 (GRCm39)	missense	probably damaging	1.00
R0389:Tfap2d	UTSW	1	19,174,591 (GRCm39)	missense	possibly damaging	0.94
R0443:Tfap2d	UTSW	1	19,174,591 (GRCm39)	missense	possibly damaging	0.94
R3962:Tfap2d	UTSW	1	19,189,189 (GRCm39)	missense	probably damaging	1.00
R3977:Tfap2d	UTSW	1	19,174,718 (GRCm39)	missense	possibly damaging	0.76
R3980:Tfap2d	UTSW	1	19,236,187 (GRCm39)	missense	possibly damaging	0.69
R4721:Tfap2d	UTSW	1	19,174,984 (GRCm39)	missense	possibly damaging	0.46
R6281:Tfap2d	UTSW	1	19,174,702 (GRCm39)	missense	probably benign	0.12
R6283:Tfap2d	UTSW	1	19,174,702 (GRCm39)	missense	probably benign	0.12
R6492:Tfap2d	UTSW	1	19,174,702 (GRCm39)	missense	probably benign	0.12
R6493:Tfap2d	UTSW	1	19,174,702 (GRCm39)	missense	probably benign	0.12
R6751:Tfap2d	UTSW	1	19,173,507 (GRCm39)	missense	possibly damaging	0.72
R7288:Tfap2d	UTSW	1	19,189,207 (GRCm39)	missense	probably damaging	1.00
R7400:Tfap2d	UTSW	1	19,213,150 (GRCm39)	missense	possibly damaging	0.70
R8156:Tfap2d	UTSW	1	19,173,486 (GRCm39)	missense	probably benign
R8551:Tfap2d	UTSW	1	19,175,024 (GRCm39)	missense	probably benign	0.08
R8686:Tfap2d	UTSW	1	19,178,508 (GRCm39)	missense	probably benign	0.06
R8838:Tfap2d	UTSW	1	19,175,036 (GRCm39)	missense	possibly damaging	0.83

Posted On

2015-04-16