Mutagenetix > Incidental Mutation

Incidental Mutation 'R6738:Tfap4'

530335

Institutional Source

Beutler Lab

Gene Symbol

Tfap4

Ensembl Gene

ENSMUSG00000005718

Gene Name

transcription factor AP4

Synonyms

AP-4, Tcfap4, D930048N17Rik, bHLHc41

MMRRC Submission

044856-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.599) question?

Stock #

R6738 (G1)

Quality Score

133.008

Status

Validated

Chromosome

Chromosomal Location

4362525-4377718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4367311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 184 (Y184H)

Ref Sequence

ENSEMBL: ENSMUSP00000005862 (fasta)

Gene Model

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

AlphaFold

Q9JIZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000005862
AA Change: Y184H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: Y184H

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
AA Change: Y164H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000230875
AA Change: Y124H

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0935

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,684,586 (GRCm39)	Y454H	probably damaging	Het
Ambp	A	T	4: 63,067,711 (GRCm39)	D166E	probably benign	Het
Amigo2	A	G	15: 97,143,345 (GRCm39)	V359A	possibly damaging	Het
Ankrd11	A	T	8: 123,618,660 (GRCm39)	S1710T	probably damaging	Het
Ankrd31	T	C	13: 97,040,635 (GRCm39)	S1713P	possibly damaging	Het
Arhgap45	A	T	10: 79,863,431 (GRCm39)	K758M	probably damaging	Het
Bclaf1	T	C	10: 20,199,515 (GRCm39)	I304T	possibly damaging	Het
C1ra	A	G	6: 124,494,718 (GRCm39)	Y327C	probably damaging	Het
Ccdc73	C	T	2: 104,822,433 (GRCm39)	S794L	probably benign	Het
Cd24a	A	G	10: 43,458,672 (GRCm39)	N48D	possibly damaging	Het
Col11a1	A	G	3: 113,906,116 (GRCm39)		probably benign	Het
Cyp11b2	G	A	15: 74,725,363 (GRCm39)	T252I	possibly damaging	Het
Dlx2	A	G	2: 71,376,406 (GRCm39)	Y111H	probably benign	Het
Dsp	T	C	13: 38,376,186 (GRCm39)	S1324P	possibly damaging	Het
Esyt3	A	T	9: 99,202,346 (GRCm39)	F522I	probably damaging	Het
Fam193b	C	T	13: 55,698,174 (GRCm39)	A45T	probably benign	Het
Flnb	A	G	14: 7,904,536 (GRCm38)	T980A	probably benign	Het
Gabrb2	G	T	11: 42,484,758 (GRCm39)	A272S	possibly damaging	Het
H2al2a	G	T	2: 18,001,429 (GRCm39)	Q86K	possibly damaging	Het
Ikbkb	T	G	8: 23,165,052 (GRCm39)	I243L	probably damaging	Het
Il18r1	A	G	1: 40,537,816 (GRCm39)	E527G	probably benign	Het
Krt35	A	T	11: 99,984,535 (GRCm39)	V320D	probably damaging	Het
Krt76	C	T	15: 101,795,913 (GRCm39)	R419H	probably benign	Het
Lrp2	T	A	2: 69,288,832 (GRCm39)	Y3678F	probably damaging	Het
Mab21l4	G	A	1: 93,087,707 (GRCm39)	L49F	probably benign	Het
Mnat1	T	G	12: 73,319,246 (GRCm39)	S290A	probably benign	Het
Mptx2	T	C	1: 173,102,422 (GRCm39)	E89G	probably benign	Het
Myom1	T	A	17: 71,407,393 (GRCm39)		probably null	Het
Naaladl2	A	G	3: 24,225,806 (GRCm39)	V541A	probably benign	Het
Nbeal2	T	C	9: 110,465,973 (GRCm39)	T851A	possibly damaging	Het
Ncoa4	A	G	14: 31,892,750 (GRCm39)	Y11C	probably benign	Het
Ntn5	T	A	7: 45,343,780 (GRCm39)		probably null	Het
Or10d4c	A	G	9: 39,557,957 (GRCm39)		probably benign	Het
Or1j18	C	T	2: 36,624,444 (GRCm39)	T37I	probably benign	Het
Otop2	A	G	11: 115,220,318 (GRCm39)	Y386C	probably damaging	Het
Ppp2r1a	T	A	17: 21,174,979 (GRCm39)		probably null	Het
Prkd2	C	A	7: 16,599,830 (GRCm39)	N764K	possibly damaging	Het
Ralgapa1	A	G	12: 55,809,512 (GRCm39)	L421S	probably damaging	Het
Ric3	G	A	7: 108,647,269 (GRCm39)	R184*	probably null	Het
Sfswap	A	G	5: 129,618,505 (GRCm39)	K480E	probably damaging	Het
Siah2	A	G	3: 58,598,974 (GRCm39)	V88A	probably benign	Het
Slc22a16	T	C	10: 40,461,298 (GRCm39)	F367L	probably damaging	Het
Slc23a2	T	C	2: 131,920,356 (GRCm39)	D183G	probably benign	Het
Svep1	T	C	4: 58,123,180 (GRCm39)	N712S	possibly damaging	Het
Tex21	A	G	12: 76,286,283 (GRCm39)	V72A	probably benign	Het
Timeless	T	C	10: 128,076,504 (GRCm39)	Y138H	probably damaging	Het
Tln2	A	T	9: 67,293,946 (GRCm39)	N227K	possibly damaging	Het
Trip10	C	T	17: 57,563,899 (GRCm39)	P342S	probably benign	Het
Ttc6	A	T	12: 57,735,426 (GRCm39)	E1156V	probably damaging	Het
Ttn	T	C	2: 76,728,472 (GRCm39)		probably benign	Het
Vmn2r109	G	A	17: 20,774,785 (GRCm39)	S190L	possibly damaging	Het
Wdr54	A	G	6: 83,132,109 (GRCm39)	S99P	probably damaging	Het
Ythdf2	A	C	4: 131,932,272 (GRCm39)	I296R	probably benign	Het
Zfp445	A	G	9: 122,691,123 (GRCm39)	V24A	probably damaging	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
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
R9127:Tfap4	UTSW	16	4,365,183 (GRCm39)	missense	possibly damaging	0.53
X0065:Tfap4	UTSW	16	4,365,140 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTACAGATTCTGAGAACCCCGC -3'
(R):5'- CAGCTAGTCAGTCAGAAGGG -3'

Sequencing Primer
(F):5'- gctctagcttctcctggt -3'
(R):5'- CAGCTAGTCAGTCAGAAGGGAAAGG -3'

Posted On

2018-08-01