Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Tfap4'

460582

Institutional Source

Beutler Lab

Gene Symbol

Tfap4

Ensembl Gene

ENSMUSG00000005718

Gene Name

transcription factor AP4

Synonyms

AP-4, bHLHc41, Tcfap4

MMRRC Submission

044137-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R5945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4544661-4559854 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4545629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 314 (S314L)

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: S314L

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

SMART Domains

Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: S314L

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

noncoding transcript
Transcript: ENSMUST00000133440

Predicted Effect

probably benign
Transcript: ENSMUST00000229956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230817

Predicted Effect

probably benign
Transcript: ENSMUST00000230875

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,106,339		noncoding transcript	Het
Abca13	C	T	11: 9,293,398	H1754Y	probably benign	Het
Abi1	T	C	2: 23,039,965	E34G	probably damaging	Het
Apobec3	C	T	15: 79,897,846	T19I	probably damaging	Het
Arel1	C	A	12: 84,926,347	V559L	probably benign	Het
Arhgef10	T	C	8: 14,980,028		probably null	Het
Asb6	T	C	2: 30,828,203		probably benign	Het
Asxl2	T	C	12: 3,500,439	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,237,243	R1100L	probably benign	Het
Atp6v1a	A	G	16: 44,099,946	V429A	probably damaging	Het
Caml	A	G	13: 55,628,632	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,723,588	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,485,850	E400G	probably damaging	Het
Ces1h	T	A	8: 93,363,626	E266V	probably benign	Het
Chd5	G	T	4: 152,379,951	Q1522H	probably benign	Het
CN725425	T	A	15: 91,245,777	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579	E62V	probably null	Het
Cops5	T	A	1: 10,038,010		probably benign	Het
Crhr2	T	A	6: 55,100,682	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,786,316		probably benign	Het
Ddx31	T	A	2: 28,859,890	I308N	probably damaging	Het
Efcab14	T	A	4: 115,756,467	V204D	probably damaging	Het
Emsy	T	C	7: 98,619,383	T484A	probably damaging	Het
Ep400	A	T	5: 110,682,866	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,828,730	Q420L	possibly damaging	Het
Fat4	A	G	3: 38,983,206	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,114,199	T607K	probably damaging	Het
Glod4	T	C	11: 76,234,471	Y135C	probably damaging	Het
Gm10912	A	G	2: 104,066,616	I33M	possibly damaging	Het
Gm5592	T	C	7: 41,215,612		probably benign	Het
Gm6614	T	A	6: 141,994,282	N145I	probably damaging	Het
Gria4	A	G	9: 4,456,122	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,460,626	E220G	probably benign	Het
Itga1	T	G	13: 114,966,590	N1102H	probably benign	Het
Itpk1	A	G	12: 102,588,553	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,745,322	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,568,701		probably null	Het
Kif24	G	A	4: 41,428,670	Q97*	probably null	Het
Klhl2	T	C	8: 64,749,728	I479V	probably benign	Het
Large1	T	C	8: 72,852,200	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,655,497	L169R	probably damaging	Het
Loxl3	T	G	6: 83,037,511	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,584,463	Y4H	unknown	Het
March7	A	G	2: 60,240,987	K612E	probably damaging	Het
Mreg	C	T	1: 72,192,200	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,480,499		probably benign	Het
Nrbf2	G	A	10: 67,267,520	S268F	possibly damaging	Het
Olfr1157	A	T	2: 87,962,602	C97S	probably damaging	Het
Olfr196	A	G	16: 59,168,119	L8P	probably benign	Het
Olfr197	C	T	16: 59,185,728	V252I	unknown	Het
Olfr729	A	G	14: 50,148,763	V37A	probably benign	Het
Oog4	T	A	4: 143,437,723	I341F	probably benign	Het
Pcdhb5	G	A	18: 37,321,470	R301Q	probably benign	Het
Podn	T	C	4: 108,021,713	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,455,532		probably null	Het
Ppp2r1a	C	G	17: 20,959,413	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,514,887	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,573,419		probably benign	Het
Rgl2	A	G	17: 33,932,038		probably null	Het
Ryr2	A	T	13: 11,660,122	I3373N	probably damaging	Het
Scap	A	G	9: 110,384,596	N1209S	probably benign	Het
Sin3b	T	C	8: 72,731,165	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,996,028	I296N	probably damaging	Het
Slco2a1	T	C	9: 103,046,790	S68P	probably damaging	Het
Snx8	A	G	5: 140,353,480	C161R	probably benign	Het
Spryd3	C	T	15: 102,118,195	C347Y	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Strn3	T	C	12: 51,629,496	T333A	probably benign	Het
Swt1	T	A	1: 151,411,170	E190D	probably benign	Het
Tchh	A	T	3: 93,445,337	I695F	unknown	Het
Tigd3	G	T	19: 5,891,866	T412K	probably benign	Het
Tmem184b	T	A	15: 79,365,481		probably null	Het
Trpa1	T	C	1: 14,898,135	D469G	probably benign	Het
Tssk1	T	C	16: 17,894,701	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,619,745	M313K	probably damaging	Het
Tubgcp6	T	C	15: 89,109,217		probably null	Het
Vav1	A	G	17: 57,301,870	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,324,886	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,362,332	L892*	probably null	Het
Zfp46	T	A	4: 136,287,217	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,702,416	P99Q	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp990	T	A	4: 145,538,043	I537N	probably damaging	Het

Other mutations in Tfap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Tfap4	APN	16	4547359	missense	probably damaging	1.00
IGL01816:Tfap4	APN	16	4552092	missense	probably damaging	0.98
IGL02947:Tfap4	APN	16	4551360	missense	probably damaging	0.99
E0370:Tfap4	UTSW	16	4559470	missense	possibly damaging	0.53
R1311:Tfap4	UTSW	16	4559426	critical splice donor site	probably null
R1791:Tfap4	UTSW	16	4552069	missense	possibly damaging	0.53
R4300:Tfap4	UTSW	16	4551360	missense	probably damaging	0.99
R4371:Tfap4	UTSW	16	4551999	missense	probably damaging	1.00
R6219:Tfap4	UTSW	16	4547311	missense	probably damaging	0.96
R6738:Tfap4	UTSW	16	4549447	missense	probably damaging	0.99
R7678:Tfap4	UTSW	16	4551766	missense	possibly damaging	0.53
R8496:Tfap4	UTSW	16	4551306	missense	probably damaging	0.99
R8854:Tfap4	UTSW	16	4549374	missense	probably benign	0.03
R8927:Tfap4	UTSW	16	4551354	missense	probably damaging	0.99
R8928:Tfap4	UTSW	16	4551354	missense	probably damaging	0.99
R9127:Tfap4	UTSW	16	4547319	missense	possibly damaging	0.53
X0065:Tfap4	UTSW	16	4547276	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGTGGCTTCGATCAAAGGTC -3'
(R):5'- GAACAGAAGGGCCTTCTCTTTC -3'

Sequencing Primer
(F):5'- GGCTTCGATCAAAGGTCGACTTAC -3'
(R):5'- AGAAAGCAGCTGGCCCAGTC -3'

Posted On

2017-02-28