Mutagenetix > Incidental Mutation

Incidental Mutation 'R8686:Tfap2d'

662015

Institutional Source

Beutler Lab

Gene Symbol

Tfap2d

Ensembl Gene

ENSMUSG00000042596

Gene Name

transcription factor AP-2, delta

Synonyms

Tcfap2d

MMRRC Submission

068541-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8686 (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 19178508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 191 (N191S)

Ref Sequence

ENSEMBL: ENSMUSP00000037699 (fasta)

Gene Model

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

AlphaFold

Q91ZK0

Predicted Effect

probably benign
Transcript: ENSMUST00000037294
AA Change: N191S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: N191S

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

0.0669

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,521 (GRCm39)	T596A	probably benign	Het
Adamts6	A	G	13: 104,450,207 (GRCm39)	I303V	probably damaging	Het
Alpl	A	T	4: 137,471,112 (GRCm39)	H341Q	probably damaging	Het
Cachd1	G	A	4: 100,845,325 (GRCm39)	R939H	probably damaging	Het
Cd22	G	A	7: 30,569,494 (GRCm39)	R541C	probably benign	Het
Cenpf	A	T	1: 189,391,801 (GRCm39)	M660K	probably benign	Het
Cmya5	A	T	13: 93,231,888 (GRCm39)	S1067T	possibly damaging	Het
Col5a2	C	T	1: 45,461,147 (GRCm39)	G250D	probably damaging	Het
Cylc2	C	T	4: 51,229,651 (GRCm39)	T331M	unknown	Het
Dgka	A	G	10: 128,568,962 (GRCm39)	M201T	probably benign	Het
Dnajc13	T	C	9: 104,048,004 (GRCm39)	I1804V	probably benign	Het
Dym	T	A	18: 75,419,754 (GRCm39)	Y642N	probably damaging	Het
Efr3b	A	T	12: 4,050,886 (GRCm39)	D26E	probably damaging	Het
Emilin1	A	T	5: 31,075,040 (GRCm39)	K427M	possibly damaging	Het
Fam187b	T	C	7: 30,676,659 (GRCm39)	L56S	probably benign	Het
Fbh1	C	T	2: 11,760,469 (GRCm39)	V694I	probably benign	Het
Fgd2	C	T	17: 29,597,997 (GRCm39)	T644I	probably benign	Het
G6pc1	T	G	11: 101,265,533 (GRCm39)		probably null	Het
Gli2	A	G	1: 118,764,417 (GRCm39)	S1245P	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Ighv1-84	T	C	12: 115,944,524 (GRCm39)	D50G	probably benign	Het
Impdh1	C	A	6: 29,216,214 (GRCm39)		probably benign	Het
Inhca	C	T	9: 103,136,627 (GRCm39)	A525T	probably benign	Het
Irf4	A	T	13: 30,945,433 (GRCm39)	D393V	possibly damaging	Het
Kalrn	A	G	16: 34,181,305 (GRCm39)	L111P	probably damaging	Het
Lrch3	T	C	16: 32,802,223 (GRCm39)	V58A	possibly damaging	Het
Lrif1	C	T	3: 106,640,097 (GRCm39)	T394I	probably damaging	Het
Map4k1	A	G	7: 28,693,498 (GRCm39)	T434A	probably benign	Het
Mcur1	G	A	13: 43,695,193 (GRCm39)	T327M	probably damaging	Het
Myo9b	G	T	8: 71,786,966 (GRCm39)	S716I	probably benign	Het
Nol10	T	A	12: 17,419,772 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,573,841 (GRCm39)	T202A	possibly damaging	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Or14j7	T	C	17: 38,235,168 (GRCm39)	V237A	probably benign	Het
Or2d4	A	C	7: 106,543,905 (GRCm39)	M101R	probably benign	Het
Parp12	A	T	6: 39,094,856 (GRCm39)	S80T	probably benign	Het
Pde1a	C	T	2: 79,758,086 (GRCm39)	V50I	probably benign	Het
Pfkl	A	T	10: 77,833,356 (GRCm39)		probably null	Het
Phkg1	A	T	5: 129,895,056 (GRCm39)	Y207N	probably damaging	Het
Pik3r4	A	G	9: 105,535,728 (GRCm39)	T640A	possibly damaging	Het
Pip5k1c	C	A	10: 81,147,827 (GRCm39)	H411N	probably damaging	Het
Pla2g4e	A	G	2: 120,075,172 (GRCm39)	S73P	probably damaging	Het
Polr2b	T	C	5: 77,483,510 (GRCm39)	V662A	probably damaging	Het
Prss43	C	T	9: 110,658,494 (GRCm39)	R265C	possibly damaging	Het
Rap1b	A	T	10: 117,658,746 (GRCm39)	V29D	probably damaging	Het
Rraga	A	G	4: 86,495,048 (GRCm39)	E298G	probably damaging	Het
Rrp8	A	T	7: 105,382,781 (GRCm39)	I418N	probably damaging	Het
Siglecf	T	C	7: 43,005,030 (GRCm39)	V420A	probably benign	Het
Snx14	T	A	9: 88,297,746 (GRCm39)	N174I	probably damaging	Het
Speer4e1	T	C	5: 14,984,129 (GRCm39)	N229S	probably benign	Het
Spopfm2	T	C	3: 94,083,427 (GRCm39)	D128G	probably benign	Het
Teddm3	A	G	16: 20,971,685 (GRCm39)	*295Q	probably null	Het
Tfap2c	A	G	2: 172,393,926 (GRCm39)	D245G	possibly damaging	Het
Tmt1b	A	T	10: 128,796,476 (GRCm39)	M111K	possibly damaging	Het
Unc80	A	G	1: 66,651,427 (GRCm39)	R1591G	possibly damaging	Het
Vmn1r116	T	C	7: 20,606,616 (GRCm39)	W146R	probably damaging	Het
Vps13b	C	G	15: 35,925,535 (GRCm39)	S3823R	probably damaging	Het
Wiz	T	A	17: 32,586,821 (GRCm39)	D163V	probably damaging	Het
Xylt1	G	C	7: 116,980,594 (GRCm39)	A61P	unknown	Het
Zfp521	A	C	18: 13,978,701 (GRCm39)	F571V	probably damaging	Het
Zfp664	T	A	5: 124,963,133 (GRCm39)	C176S	possibly damaging	Het
Zfyve26	T	C	12: 79,334,227 (GRCm39)	N264D	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
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
R8838:Tfap2d	UTSW	1	19,175,036 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TAAGCGTGCTCCAGCTCTATG -3'
(R):5'- GTATTGGAGAGTCCCCAGCAAAG -3'

Sequencing Primer
(F):5'- CTCCAGCTCTATGGTGCTTTGAATG -3'
(R):5'- ATGTAGATACGCCTGTATGGACC -3'

Posted On

2021-03-08