Mutagenetix > Incidental Mutation

Incidental Mutation 'R8156:Tfap2d'

633296

Institutional Source

Beutler Lab

Gene Symbol

Tfap2d

Ensembl Gene

ENSMUSG00000042596

Gene Name

transcription factor AP-2, delta

Synonyms

Tcfap2d

MMRRC Submission

067582-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19173246-19236570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19173486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 3 (T3A)

Ref Sequence

ENSEMBL: ENSMUSP00000037699 (fasta)

Gene Model

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

AlphaFold

Q91ZK0

Predicted Effect

probably benign
Transcript: ENSMUST00000037294
AA Change: T3A

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

SMART Domains

Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: T3A

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

Meta Mutation Damage Score

0.0560

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.8%

Validation Efficiency

95% (40/42)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alyref	T	C	11: 120,489,074 (GRCm39)	R31G	probably benign	Het
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
Arhgap31	G	T	16: 38,445,991 (GRCm39)	A118E	probably damaging	Het
Asb5	T	A	8: 55,003,541 (GRCm39)	I21K	probably damaging	Het
Asxl2	A	G	12: 3,546,760 (GRCm39)	I515V	probably benign	Het
Bend7	C	T	2: 4,757,665 (GRCm39)	P236S	probably benign	Het
C4bp	T	C	1: 130,566,824 (GRCm39)	T351A	probably benign	Het
Cd1d2	T	A	3: 86,894,569 (GRCm39)		probably null	Het
Chd1	T	A	17: 15,981,666 (GRCm39)	D1368E	probably benign	Het
Chrnb3	A	G	8: 27,883,682 (GRCm39)	I140V	probably benign	Het
Cip2a	A	G	16: 48,817,825 (GRCm39)	D65G	probably damaging	Het
Col6a2	T	C	10: 76,432,625 (GRCm39)	T843A	possibly damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Dop1a	A	G	9: 86,376,510 (GRCm39)	D248G	probably damaging	Het
Dtna	T	A	18: 23,723,388 (GRCm39)	C197*	probably null	Het
Flg2	T	C	3: 93,127,390 (GRCm39)	S2101P	unknown	Het
Foxg1	A	G	12: 49,431,429 (GRCm39)	H54R	unknown	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr35	A	G	1: 92,910,437 (GRCm39)	T50A	probably damaging	Het
Gsta3	A	T	1: 21,330,322 (GRCm39)	Y108F	probably benign	Het
Hdac4	G	T	1: 91,886,138 (GRCm39)	A811E	probably damaging	Het
Hephl1	A	T	9: 14,972,210 (GRCm39)	V910E	possibly damaging	Het
Kcnb2	A	T	1: 15,780,280 (GRCm39)	Y384F	probably damaging	Het
Kmt2a	T	C	9: 44,733,686 (GRCm39)	I2210M	unknown	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lrriq1	A	G	10: 102,992,196 (GRCm39)		probably null	Het
Lsm4	G	A	8: 71,131,018 (GRCm39)	G112S	probably damaging	Het
Myt1	T	C	2: 181,464,554 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,746 (GRCm39)	R396G	probably benign	Het
Or10ag56	A	C	2: 87,139,318 (GRCm39)	I82L	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Prdm2	A	G	4: 142,861,338 (GRCm39)	S651P	probably benign	Het
Prkaa2	T	C	4: 104,909,172 (GRCm39)	M91V	probably benign	Het
Pskh1	G	A	8: 106,640,226 (GRCm39)	R302H	probably benign	Het
Rab11fip4	A	G	11: 79,577,415 (GRCm39)	T390A	probably benign	Het
Snx10	T	C	6: 51,538,999 (GRCm39)		probably benign	Het
Taar5	T	C	10: 23,847,393 (GRCm39)	C264R	probably damaging	Het
Tcf20	A	G	15: 82,737,138 (GRCm39)	C1438R	probably benign	Het
Toporsl	A	G	4: 52,609,975 (GRCm39)		probably benign	Het
Trim71	A	G	9: 114,342,192 (GRCm39)	S697P	probably benign	Het
Ufl1	T	C	4: 25,269,057 (GRCm39)	D258G	probably damaging	Het
Vmn1r28	T	C	6: 58,242,183 (GRCm39)	Y9H	probably damaging	Het
Zfp995	T	A	17: 22,099,115 (GRCm39)	H373L	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
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
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'- GCTATCTGATCCGGGCAAAAC -3'
(R):5'- TGCGACAGATGTCATAACGAAC -3'

Sequencing Primer
(F):5'- TCCGGGCAAAACCATTACAGTTTAG -3'
(R):5'- AGATGTCATAACGAACTTTCTCCCG -3'

Posted On

2020-06-30