Mutagenetix > Incidental Mutation

Incidental Mutation 'R9127:Tfap4'

693362

Institutional Source

Beutler Lab

Gene Symbol

Tfap4

Ensembl Gene

ENSMUSG00000005718

Gene Name

transcription factor AP4

Synonyms

AP-4, Tcfap4, D930048N17Rik, bHLHc41

MMRRC Submission

068926-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.657) question?

Stock #

R9127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4362525-4377718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4365183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 253 (M253K)

Ref Sequence

ENSEMBL: ENSMUSP00000005862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005862] [ENSMUST00000229956] [ENSMUST00000230875]

AlphaFold

Q9JIZ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005862
AA Change: M253K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: M253K

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
HLH	54	105	2.06e-16	SMART
coiled coil region	144	183	N/A	INTRINSIC
low complexity region	193	210	N/A	INTRINSIC
low complexity region	225	238	N/A	INTRINSIC
low complexity region	306	327	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229956

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230875
AA Change: M193K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality and reduced suppression of Cd4 in double negative thymocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,242,080 (GRCm39)	D1314E	probably benign	Het
Abcb1a	A	T	5: 8,724,707 (GRCm39)	R47W	probably benign	Het
Abcc6	T	C	7: 45,629,184 (GRCm39)	N1354S	probably damaging	Het
Abracl	T	C	10: 17,887,444 (GRCm39)	Y61C	probably damaging	Het
Adamtsl1	A	G	4: 86,208,027 (GRCm39)	T633A	probably benign	Het
Agap3	G	A	5: 24,681,439 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,904 (GRCm39)	M647K	probably damaging	Het
Akap7	G	T	10: 25,155,676 (GRCm39)	S72R	unknown	Het
Arhgef12	A	G	9: 42,885,870 (GRCm39)	L1251S	possibly damaging	Het
Astn2	A	T	4: 66,322,164 (GRCm39)	V145E	unknown	Het
Atxn2l	A	T	7: 126,097,393 (GRCm39)	S304R	probably damaging	Het
Cd226	A	T	18: 89,287,155 (GRCm39)	I318F	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cfap65	A	T	1: 74,958,510 (GRCm39)		probably benign	Het
Cfap96	T	G	8: 46,415,403 (GRCm39)	D201A	probably benign	Het
Chtf8	A	G	8: 107,613,640 (GRCm39)	V18A	probably benign	Het
Cit	G	T	5: 116,074,896 (GRCm39)	E683*	probably null	Het
Ckmt2	T	C	13: 92,007,337 (GRCm39)	R286G	probably damaging	Het
Clec4a2	T	A	6: 123,116,218 (GRCm39)	W128R	probably damaging	Het
Clec4n	T	G	6: 123,212,447 (GRCm39)	S88A	probably damaging	Het
Cndp2	G	A	18: 84,699,121 (GRCm39)	A48V	probably benign	Het
Csmd1	T	C	8: 16,273,286 (GRCm39)	T849A	probably benign	Het
Cts3	A	T	13: 61,715,235 (GRCm39)	Y199*	probably null	Het
Dag1	A	T	9: 108,085,734 (GRCm39)	L469*	probably null	Het
Dclre1c	T	C	2: 3,439,125 (GRCm39)	V225A		Het
Dedd	A	G	1: 171,166,409 (GRCm39)	D115G	probably damaging	Het
Efcab3	T	A	11: 104,741,407 (GRCm39)	V2166D	probably benign	Het
Eif2ak3	T	A	6: 70,860,704 (GRCm39)	W427R	probably damaging	Het
Fbln2	T	A	6: 91,210,473 (GRCm39)	V139D	probably damaging	Het
Fbn1	A	T	2: 125,223,985 (GRCm39)	M588K	possibly damaging	Het
Gm17019	A	T	5: 15,081,113 (GRCm39)	Y109*	probably null	Het
Gm32742	T	A	9: 51,056,015 (GRCm39)	N1255Y	probably damaging	Het
Gm5431	T	A	11: 48,779,600 (GRCm39)	K441*	probably null	Het
Golga2	A	G	2: 32,196,079 (GRCm39)	D898G		Het
Gramd4	G	A	15: 85,975,525 (GRCm39)	R39H	probably benign	Het
Gucy1a2	A	G	9: 3,634,553 (GRCm39)	N199S	probably damaging	Het
Heyl	G	A	4: 123,139,885 (GRCm39)	R148H	probably damaging	Het
Ifi208	A	T	1: 173,523,400 (GRCm39)	M557L	probably benign	Het
Igf2r	A	G	17: 12,958,238 (GRCm39)	V145A	probably damaging	Het
Ighv1-4	A	T	12: 114,450,879 (GRCm39)	Y76*	probably null	Het
Ikzf4	T	C	10: 128,468,487 (GRCm39)	D664G	unknown	Het
Il1a	T	A	2: 129,146,715 (GRCm39)	Y126F	possibly damaging	Het
Lmf2	C	A	15: 89,239,771 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,808,827 (GRCm39)	S166P	probably damaging	Het
Mgat5	A	C	1: 127,294,197 (GRCm39)	T180P	probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mov10	G	T	3: 104,711,659 (GRCm39)	Y209*	probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Numa1	T	A	7: 101,641,869 (GRCm39)	S106T	possibly damaging	Het
Or1e1d-ps1	A	T	11: 73,819,167 (GRCm39)	E39V	probably damaging	Het
Or4c124	G	A	2: 89,156,474 (GRCm39)	Q17*	probably null	Het
Or5b107	A	G	19: 13,142,396 (GRCm39)	N6S	probably damaging	Het
Or7g27	A	G	9: 19,250,026 (GRCm39)	H90R	probably benign	Het
Pcdhb14	A	G	18: 37,582,091 (GRCm39)	N399S	probably damaging	Het
Plcl2	T	A	17: 50,918,032 (GRCm39)	S944T	probably benign	Het
Pml	A	T	9: 58,127,660 (GRCm39)	I695N	probably benign	Het
Ppard	G	T	17: 28,505,349 (GRCm39)	R12L	unknown	Het
Ppip5k1	C	T	2: 121,158,125 (GRCm39)		probably null	Het
Ppp1r3g	T	C	13: 36,152,621 (GRCm39)	S14P	probably benign	Het
Pramel55	A	G	5: 95,951,623 (GRCm39)	Y470C	probably damaging	Het
Prrc2b	C	A	2: 32,103,764 (GRCm39)	R1081S	probably damaging	Het
Rasgrp2	A	T	19: 6,454,438 (GRCm39)	E160D	possibly damaging	Het
Rb1cc1	G	A	1: 6,333,073 (GRCm39)	V1331I	probably damaging	Het
Rnd3	A	T	2: 51,022,413 (GRCm39)	S210T	probably benign	Het
Scaf11	T	C	15: 96,312,764 (GRCm39)	T1426A	probably benign	Het
Sin3b	C	T	8: 73,460,034 (GRCm39)	T207I	possibly damaging	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc28a3	C	T	13: 58,724,581 (GRCm39)	M224I	probably benign	Het
Slc30a1	T	C	1: 191,639,342 (GRCm39)	I75T	probably damaging	Het
Slc6a21	T	A	7: 44,929,674 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,243 (GRCm39)	L206Q	probably damaging	Het
Spata31d1e	A	G	13: 59,890,828 (GRCm39)	S331P	probably benign	Het
Sptbn1	A	G	11: 30,104,356 (GRCm39)	V116A	probably damaging	Het
Syngap1	G	A	17: 27,181,095 (GRCm39)	D1008N	probably damaging	Het
Syt11	T	C	3: 88,669,643 (GRCm39)	D83G	probably benign	Het
Syt14	G	A	1: 192,584,131 (GRCm39)	T428I	probably damaging	Het
Taf15	T	A	11: 83,395,085 (GRCm39)	Y338*	probably null	Het
Tnr	T	C	1: 159,713,680 (GRCm39)	S703P	possibly damaging	Het
Trrap	G	A	5: 144,767,830 (GRCm39)	D2577N	probably benign	Het
Uqcc6	A	T	10: 82,458,588 (GRCm39)	M21K	probably benign	Het
Wdr20	C	T	12: 110,759,597 (GRCm39)	S161L	possibly damaging	Het
Zfp503	C	A	14: 22,037,418 (GRCm39)	V62L	probably benign	Het

Other mutations in Tfap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Tfap4	APN	16	4,365,223 (GRCm39)	missense	probably damaging	1.00
IGL01816:Tfap4	APN	16	4,369,956 (GRCm39)	missense	probably damaging	0.98
IGL02947:Tfap4	APN	16	4,369,224 (GRCm39)	missense	probably damaging	0.99
E0370:Tfap4	UTSW	16	4,377,334 (GRCm39)	missense	possibly damaging	0.53
R1311:Tfap4	UTSW	16	4,377,290 (GRCm39)	critical splice donor site	probably null
R1791:Tfap4	UTSW	16	4,369,933 (GRCm39)	missense	possibly damaging	0.53
R4300:Tfap4	UTSW	16	4,369,224 (GRCm39)	missense	probably damaging	0.99
R4371:Tfap4	UTSW	16	4,369,863 (GRCm39)	missense	probably damaging	1.00
R5945:Tfap4	UTSW	16	4,363,493 (GRCm39)	missense	possibly damaging	0.53
R6219:Tfap4	UTSW	16	4,365,175 (GRCm39)	missense	probably damaging	0.96
R6738:Tfap4	UTSW	16	4,367,311 (GRCm39)	missense	probably damaging	0.99
R7678:Tfap4	UTSW	16	4,369,630 (GRCm39)	missense	possibly damaging	0.53
R8496:Tfap4	UTSW	16	4,369,170 (GRCm39)	missense	probably damaging	0.99
R8854:Tfap4	UTSW	16	4,367,238 (GRCm39)	missense	probably benign	0.03
R8927:Tfap4	UTSW	16	4,369,218 (GRCm39)	missense	probably damaging	0.99
R8928:Tfap4	UTSW	16	4,369,218 (GRCm39)	missense	probably damaging	0.99
X0065:Tfap4	UTSW	16	4,365,140 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTACAGGAGCTCCATCTTGC -3'
(R):5'- ACAGCCATGATGAGAGCTATG -3'

Sequencing Primer
(F):5'- AGCTCCATCTTGCTCTTGATCCAC -3'
(R):5'- TACTGGAGACCAAGCCTTTG -3'

Posted On

2022-01-20