Mutagenetix > Incidental Mutation

Incidental Mutation 'R3977:Tfap2d'

311050

Institutional Source

Beutler Lab

Gene Symbol

Tfap2d

Ensembl Gene

ENSMUSG00000042596

Gene Name

transcription factor AP-2, delta

Synonyms

Tcfap2d

MMRRC Submission

040940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19173246-19236570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 19174718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 57 (S57C)

Ref Sequence

ENSEMBL: ENSMUSP00000037699 (fasta)

Gene Model

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

AlphaFold

Q91ZK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037294
AA Change: S57C

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: S57C

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

0.1765

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (50/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,872,664 (GRCm39)	P942L	possibly damaging	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Brpf3	A	G	17: 29,026,016 (GRCm39)	E363G	possibly damaging	Het
Ccdc96	T	C	5: 36,642,510 (GRCm39)	L172P	possibly damaging	Het
Cln3	G	A	7: 126,179,308 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,668,071 (GRCm39)	I1526T	possibly damaging	Het
Entr1	T	A	2: 26,274,805 (GRCm39)	N364I	probably damaging	Het
Fmo3	T	G	1: 162,786,147 (GRCm39)	E281A	probably damaging	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gbp2b	A	G	3: 142,309,470 (GRCm39)	I194V	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hk1	A	G	10: 62,126,098 (GRCm39)	V396A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il19	A	T	1: 130,863,770 (GRCm39)	C74S	probably damaging	Het
Krt1c	T	C	15: 101,719,562 (GRCm39)	T703A	unknown	Het
Lrig2	A	T	3: 104,365,160 (GRCm39)	V664E	probably damaging	Het
Lrrc37a	T	C	11: 103,348,430 (GRCm39)	K2755R	unknown	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mbtd1	A	G	11: 93,796,001 (GRCm39)	N13D	probably benign	Het
Mfsd4b5	T	C	10: 39,850,704 (GRCm39)		probably benign	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Ogfod2	C	A	5: 124,251,272 (GRCm39)		probably null	Het
Or10q3	C	A	19: 11,847,869 (GRCm39)	R237L	possibly damaging	Het
Or10v1	T	A	19: 11,873,880 (GRCm39)	F165Y	probably damaging	Het
Or11a4	T	C	17: 37,536,049 (GRCm39)	V11A	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4c3	C	A	2: 89,852,089 (GRCm39)	G107V	probably damaging	Het
Or6c5	C	T	10: 129,074,377 (GRCm39)	R120C	probably damaging	Het
Pkmyt1	A	G	17: 23,954,305 (GRCm39)	M362V	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1r12b	A	G	1: 134,693,713 (GRCm39)	S983P	probably benign	Het
Ptpn22	A	G	3: 103,780,957 (GRCm39)		probably benign	Het
Raph1	A	T	1: 60,537,682 (GRCm39)	D491E	probably benign	Het
Rc3h1	A	G	1: 160,786,969 (GRCm39)		probably null	Het
Rtn4	T	C	11: 29,643,819 (GRCm39)	L5P	probably benign	Het
Slc23a4	C	T	6: 34,930,723 (GRCm39)	V400I	probably benign	Het
Slco1a5	A	G	6: 142,204,698 (GRCm39)		probably benign	Het
Smpd1	T	C	7: 105,205,108 (GRCm39)	F329S	probably benign	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Ten1	G	A	11: 116,107,771 (GRCm39)		probably null	Het
Tnr	A	G	1: 159,719,593 (GRCm39)	M957V	probably benign	Het
Trbv13-3	A	G	6: 41,107,079 (GRCm39)		probably benign	Het
Trp53rkb	C	T	2: 166,637,446 (GRCm39)	A134V	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r74	T	C	7: 85,607,345 (GRCm39)	Y126C	probably benign	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	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
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
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'- TGAAGGCACTCACTGAGTCC -3'
(R):5'- TAATAAAGTCGGTGGGCTCCCC -3'

Sequencing Primer
(F):5'- CGCCTTGGTTGCAAAATGAC -3'
(R):5'- TCCCCGTGGTGAATCTGCTG -3'

Posted On

2015-04-29