Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01757:Tfap2d'

153202

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01757

Quality Score

Status

Chromosome

Chromosomal Location

19103022-19166346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19104580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 86 (T86A)

Ref Sequence

ENSEMBL: ENSMUSP00000037699 (fasta)

Gene Model

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

AlphaFold

Q91ZK0

Predicted Effect

probably benign
Transcript: ENSMUST00000037294
AA Change: T86A

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

SMART Domains

Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: T86A

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,990,281		probably benign	Het
Adamts9	T	C	6: 92,796,159	Y1789C	probably damaging	Het
Cdcp1	A	T	9: 123,180,001	Y537*	probably null	Het
Chic2	T	C	5: 75,006,767		probably benign	Het
Cpa5	G	A	6: 30,625,927		probably benign	Het
Csgalnact2	T	C	6: 118,129,346	R4G	probably damaging	Het
Dnah10	T	A	5: 124,768,927	V1510D	probably benign	Het
Dnm2	T	A	9: 21,465,619	F91L	probably damaging	Het
Eif2b1	T	C	5: 124,573,140	K189E	probably benign	Het
Fgf17	A	T	14: 70,636,980	L123Q	probably damaging	Het
Ifna15	T	C	4: 88,558,085	K54R	possibly damaging	Het
Isg15	A	G	4: 156,199,844	C76R	probably damaging	Het
Ldb2	A	T	5: 44,541,867		probably benign	Het
Lig4	A	G	8: 9,971,185	I865T	probably benign	Het
Lrrc46	T	C	11: 97,035,875	Y154C	probably damaging	Het
Lrrc8a	G	A	2: 30,255,525	R117H	possibly damaging	Het
Mrpl2	A	G	17: 46,648,257	I96V	probably damaging	Het
Mtif2	G	A	11: 29,541,337		probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Ptpn23	G	A	9: 110,391,636	R269W	probably damaging	Het
Senp2	T	C	16: 22,009,664	V8A	probably benign	Het
Slf1	T	C	13: 77,084,440	D515G	probably benign	Het
Spc25	G	A	2: 69,202,608	Q58*	probably null	Het
Sult2a5	T	C	7: 13,665,154	S229P	probably damaging	Het
Trp53bp1	A	G	2: 121,211,304	V1257A	probably damaging	Het
Wdr6	A	G	9: 108,576,228	V152A	possibly damaging	Het
Zdhhc7	A	G	8: 120,087,923	V49A	probably benign	Het
Zfp648	T	C	1: 154,204,925	S277P	probably damaging	Het

Other mutations in Tfap2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Tfap2d	APN	1	19142881	missense	probably benign	0.44
IGL00837:Tfap2d	APN	1	19119206	missense	probably damaging	1.00
IGL01370:Tfap2d	APN	1	19104785	missense	probably damaging	0.96
IGL01470:Tfap2d	APN	1	19148396	missense	probably damaging	0.98
IGL01986:Tfap2d	APN	1	19119159	splice site	probably benign
IGL02613:Tfap2d	APN	1	19119191	missense	probably damaging	1.00
IGL02666:Tfap2d	APN	1	19104755	missense	probably benign	0.13
IGL02812:Tfap2d	APN	1	19142927	missense	possibly damaging	0.84
IGL02900:Tfap2d	APN	1	19119250	missense	probably damaging	1.00
IGL03184:Tfap2d	APN	1	19118886	missense	probably damaging	1.00
R0389:Tfap2d	UTSW	1	19104367	missense	possibly damaging	0.94
R0443:Tfap2d	UTSW	1	19104367	missense	possibly damaging	0.94
R3962:Tfap2d	UTSW	1	19118965	missense	probably damaging	1.00
R3977:Tfap2d	UTSW	1	19104494	missense	possibly damaging	0.76
R3980:Tfap2d	UTSW	1	19165963	missense	possibly damaging	0.69
R4721:Tfap2d	UTSW	1	19104760	missense	possibly damaging	0.46
R6281:Tfap2d	UTSW	1	19104478	missense	probably benign	0.12
R6283:Tfap2d	UTSW	1	19104478	missense	probably benign	0.12
R6492:Tfap2d	UTSW	1	19104478	missense	probably benign	0.12
R6493:Tfap2d	UTSW	1	19104478	missense	probably benign	0.12
R6751:Tfap2d	UTSW	1	19103283	missense	possibly damaging	0.72
R7288:Tfap2d	UTSW	1	19118983	missense	probably damaging	1.00
R7400:Tfap2d	UTSW	1	19142926	missense	possibly damaging	0.70
R8156:Tfap2d	UTSW	1	19103262	missense	probably benign
R8551:Tfap2d	UTSW	1	19104800	missense	probably benign	0.08
R8686:Tfap2d	UTSW	1	19108284	missense	probably benign	0.06
R8838:Tfap2d	UTSW	1	19104812	missense	possibly damaging	0.83

Posted On

2014-02-04