Mutagenetix > Incidental Mutation

Incidental Mutation 'R0443:Tfap2d'

39248

Institutional Source

Beutler Lab

Gene Symbol

Tfap2d

Ensembl Gene

ENSMUSG00000042596

Gene Name

transcription factor AP-2, delta

Synonyms

Tcfap2d

MMRRC Submission

038644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0443 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

19173246-19236570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19174591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 15 (R15C)

Ref Sequence

ENSEMBL: ENSMUSP00000037699 (fasta)

Gene Model

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

AlphaFold

Q91ZK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037294
AA Change: R15C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: R15C

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

Meta Mutation Damage Score

0.1479

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 95.6%

Validation Efficiency

96% (52/54)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	G	T	5: 26,053,409 (GRCm39)	R246L	probably damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Caskin1	C	T	17: 24,724,374 (GRCm39)	A1054V	probably damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Ccn2	T	C	10: 24,471,701 (GRCm39)		probably benign	Het
Cnot6l	T	G	5: 96,239,604 (GRCm39)		probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cux2	C	T	5: 122,025,500 (GRCm39)	R56H	possibly damaging	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Epg5	T	C	18: 77,999,118 (GRCm39)		probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Gapvd1	A	G	2: 34,594,633 (GRCm39)		probably benign	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gsdma2	C	T	11: 98,548,514 (GRCm39)	T255I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Itgam	C	T	7: 127,680,806 (GRCm39)	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Ms4a6b	A	G	19: 11,499,044 (GRCm39)	I53V	possibly damaging	Het
Mtf1	C	T	4: 124,718,075 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nop9	A	G	14: 55,991,205 (GRCm39)	S621G	probably benign	Het
Or1e19	A	G	11: 73,316,581 (GRCm39)	V76A	probably damaging	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Or9a2	T	A	6: 41,748,829 (GRCm39)	I135F	possibly damaging	Het
Pacs1	A	T	19: 5,322,611 (GRCm39)	Y102*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Pih1d2	A	G	9: 50,532,403 (GRCm39)	R170G	possibly damaging	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Pknox1	A	G	17: 31,811,193 (GRCm39)	S156G	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Psg16	T	A	7: 16,829,088 (GRCm39)	I224N	probably benign	Het
Ro60	A	G	1: 143,641,661 (GRCm39)		probably benign	Het
Slc25a40	T	A	5: 8,497,348 (GRCm39)	S229T	probably benign	Het
Slc43a2	T	C	11: 75,435,493 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tonsl	T	C	15: 76,523,884 (GRCm39)	S39G	probably benign	Het
Trpc2	A	G	7: 101,742,727 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Uvssa	A	G	5: 33,546,168 (GRCm39)	R180G	possibly damaging	Het
Vmn1r197	T	A	13: 22,512,241 (GRCm39)	I54K	possibly damaging	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Zbtb49	T	C	5: 38,358,174 (GRCm39)	E693G	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
IGL02666:Tfap2d	APN	1	19,174,979 (GRCm39)	missense	probably benign	0.13
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGTGAAGGCACTCACTGAGTCC -3'
(R):5'- CCGCGCATTGTGCAGGTTAATAAAG -3'

Sequencing Primer
(F):5'- TCACTGAGTCCGGCTGC -3'
(R):5'- TAATAAAGTCGGTGGGCTCC -3'

Posted On

2013-05-23