Mutagenetix > Incidental Mutation

Incidental Mutation 'R8838:Tfap2d'

674252

Institutional Source

Beutler Lab

Gene Symbol

Tfap2d

Ensembl Gene

ENSMUSG00000042596

Gene Name

transcription factor AP-2, delta

Synonyms

Tcfap2d

MMRRC Submission

068666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19173246-19236570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19175036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 163 (L163P)

Ref Sequence

ENSEMBL: ENSMUSP00000037699 (fasta)

Gene Model

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

AlphaFold

Q91ZK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037294
AA Change: L163P

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: L163P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,920,881 (GRCm39)	I1498F	probably damaging	Het
Aco2	T	A	15: 81,796,128 (GRCm39)	N508K	probably damaging	Het
Aff4	T	C	11: 53,297,465 (GRCm39)	S896P	possibly damaging	Het
Anapc2	T	G	2: 25,163,546 (GRCm39)	V261G	probably benign	Het
Atm	A	G	9: 53,427,851 (GRCm39)	S420P	probably damaging	Het
Bag6	C	T	17: 35,363,367 (GRCm39)	R736C	probably damaging	Het
Brca2	A	G	5: 150,465,005 (GRCm39)	T1590A	possibly damaging	Het
Cacna2d3	C	T	14: 28,691,220 (GRCm39)	C35Y	probably benign	Het
Cep170b	G	A	12: 112,710,159 (GRCm39)	R1433H	probably damaging	Het
Cmtm2a	A	G	8: 105,008,036 (GRCm39)	C138R	probably damaging	Het
Cntnap5c	T	A	17: 58,198,964 (GRCm39)	V86E		Het
Cog7	A	G	7: 121,549,106 (GRCm39)	I385T	probably damaging	Het
Col28a1	A	T	6: 8,091,839 (GRCm39)		probably null	Het
Dkk3	T	C	7: 111,717,542 (GRCm39)	E309G	probably benign	Het
Dnah10	T	C	5: 124,842,614 (GRCm39)	V1411A	probably benign	Het
Enox1	G	T	14: 77,819,950 (GRCm39)	R235L	probably benign	Het
Foxn1	T	C	11: 78,252,438 (GRCm39)	N317D	possibly damaging	Het
Grip2	G	A	6: 91,762,721 (GRCm39)		probably benign	Het
Hmmr	T	C	11: 40,604,854 (GRCm39)	T406A	probably benign	Het
Hpcal1	G	A	12: 17,836,197 (GRCm39)	R9H	probably benign	Het
Iglv3	A	T	16: 19,060,132 (GRCm39)	Y65*	probably null	Het
Itgal	A	G	7: 126,910,433 (GRCm39)	Y514C	probably damaging	Het
Kcnk9	T	C	15: 72,418,019 (GRCm39)	E37G	possibly damaging	Het
Klhl40	A	G	9: 121,609,107 (GRCm39)	D424G	probably benign	Het
Lbr	A	G	1: 181,648,294 (GRCm39)	L389P	possibly damaging	Het
Ly9	A	G	1: 171,421,569 (GRCm39)	Y561H	probably damaging	Het
Mcoln3	T	C	3: 145,845,126 (GRCm39)	F441L	probably damaging	Het
Muc20	G	T	16: 32,613,829 (GRCm39)	T516K	possibly damaging	Het
Naa35	T	C	13: 59,775,775 (GRCm39)	M551T	probably benign	Het
Nkx6-2	T	A	7: 139,161,868 (GRCm39)	T170S	probably damaging	Het
Nlrp4c	T	A	7: 6,069,337 (GRCm39)	F413I		Het
Or10w1	G	A	19: 13,632,371 (GRCm39)	V193M	probably damaging	Het
Or1s2	C	A	19: 13,758,381 (GRCm39)	T133K	probably benign	Het
Or6c1b	T	G	10: 129,273,065 (GRCm39)	L128R	probably damaging	Het
Or8k22	T	C	2: 86,163,317 (GRCm39)	K128E	possibly damaging	Het
Pcdhga10	C	T	18: 37,881,952 (GRCm39)	T571I	possibly damaging	Het
Pla2g4a	A	T	1: 149,747,256 (GRCm39)	M310K	probably benign	Het
Plaa	T	C	4: 94,471,791 (GRCm39)	T353A	probably benign	Het
Rapgef1	T	C	2: 29,627,458 (GRCm39)	F1172S	possibly damaging	Het
Rfx2	T	C	17: 57,087,877 (GRCm39)	T505A	possibly damaging	Het
Rfx4	T	C	10: 84,676,758 (GRCm39)	V216A	probably damaging	Het
Rps6kb2	G	T	19: 4,211,183 (GRCm39)	A114D	probably damaging	Het
Sdc2	T	A	15: 33,023,897 (GRCm39)	L92*	probably null	Het
Slc18b1	A	G	10: 23,696,764 (GRCm39)	Y319C	probably benign	Het
Slc22a15	A	T	3: 101,790,849 (GRCm39)	Y219N	probably damaging	Het
Tarbp1	A	T	8: 127,177,569 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,193,973 (GRCm39)	I666V	probably benign	Het
Trav14-1	G	T	14: 53,792,009 (GRCm39)	A120S	probably damaging	Het
Trps1	T	A	15: 50,753,007 (GRCm39)	N20I	probably benign	Het
Txndc16	A	G	14: 45,378,028 (GRCm39)	Y682H	probably damaging	Het
Ube4a	A	T	9: 44,837,261 (GRCm39)	D991E	probably damaging	Het
Zswim4	C	T	8: 84,940,699 (GRCm39)	R800Q	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
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

Predicted Primers

PCR Primer
(F):5'- TACCAGCAGATTCACCACGG -3'
(R):5'- GCAGAGTCCTCCTGTAATCTCATG -3'

Sequencing Primer
(F):5'- GGGAGCCCACCGACTTTATTAAC -3'
(R):5'- CATGACTTTTTCTAATTCGTGTGCG -3'

Posted On

2021-07-15