Mutagenetix > Incidental Mutation

Incidental Mutation 'R1791:Tfap4'

201776

Institutional Source

Beutler Lab

Gene Symbol

Tfap4

Ensembl Gene

ENSMUSG00000005718

Gene Name

transcription factor AP4

Synonyms

AP-4, Tcfap4, D930048N17Rik, bHLHc41

MMRRC Submission

039821-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.657) question?

Stock #

R1791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4362525-4377718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4369933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 41 (Q41K)

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: Q41K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: Q41K

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: Q21K

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000230875

Meta Mutation Damage Score

0.1081

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

95% (104/110)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adrm1b	T	A	3: 92,335,538 (GRCm39)	D388V	probably damaging	Het
Akap13	T	G	7: 75,260,783 (GRCm39)	C333G	probably benign	Het
Akap6	T	C	12: 53,115,908 (GRCm39)	S1004P	probably damaging	Het
Akap7	T	C	10: 25,115,583 (GRCm39)	T181A	probably benign	Het
Ap3b1	A	G	13: 94,545,305 (GRCm39)	E186G	possibly damaging	Het
Arhgap17	T	C	7: 122,885,925 (GRCm39)	T736A	probably benign	Het
Bltp3a	T	A	17: 28,113,720 (GRCm39)	D1297E	probably damaging	Het
Bmp8a	G	T	4: 123,218,378 (GRCm39)	R214S	possibly damaging	Het
Cacna1f	T	C	X: 7,486,678 (GRCm39)	S890P	probably damaging	Het
Cd96	A	T	16: 45,938,362 (GRCm39)	Y34*	probably null	Het
Cdc42ep4	A	G	11: 113,620,163 (GRCm39)	L76P	probably damaging	Het
Cdh23	A	G	10: 60,227,505 (GRCm39)	V1195A	possibly damaging	Het
Cfap57	G	A	4: 118,428,921 (GRCm39)	T1015M	possibly damaging	Het
Chrm3	C	A	13: 9,927,452 (GRCm39)	G528V	probably damaging	Het
Cimap1c	A	T	9: 56,759,027 (GRCm39)	F43I	possibly damaging	Het
Clip4	T	C	17: 72,108,937 (GRCm39)		probably benign	Het
Col9a1	A	T	1: 24,224,386 (GRCm39)	R189S	unknown	Het
Cul4b	A	T	X: 37,636,728 (GRCm39)	I481N	probably damaging	Het
Cyp26b1	A	G	6: 84,561,441 (GRCm39)	S74P	probably benign	Het
Cyp3a57	A	G	5: 145,307,820 (GRCm39)	N192S	probably benign	Het
Dcbld1	A	G	10: 52,195,572 (GRCm39)	D260G	probably damaging	Het
Dhrs7	T	C	12: 72,699,939 (GRCm39)	N231S	probably benign	Het
Disp3	G	A	4: 148,325,975 (GRCm39)	P1261L	probably damaging	Het
Dnaaf4	T	C	9: 72,867,966 (GRCm39)	Y76H	possibly damaging	Het
Eml5	C	A	12: 98,853,315 (GRCm39)	V95F	probably benign	Het
Emsy	A	G	7: 98,297,087 (GRCm39)	I32T	probably damaging	Het
Esr1	A	G	10: 4,733,913 (GRCm39)	R238G	probably damaging	Het
Exosc1	T	C	19: 41,916,524 (GRCm39)	K84R	probably benign	Het
F830016B08Rik	T	A	18: 60,433,589 (GRCm39)	V224E	probably benign	Het
Fam228a	T	A	12: 4,782,748 (GRCm39)	N115I	probably damaging	Het
Farp1	T	C	14: 121,494,157 (GRCm39)	I546T	probably damaging	Het
Fbxo30	T	A	10: 11,165,531 (GRCm39)	C84*	probably null	Het
Fbxw17	A	G	13: 50,579,810 (GRCm39)		probably benign	Het
Foxo4	G	C	X: 100,302,069 (GRCm39)	R192P	probably benign	Het
Galnt7	G	T	8: 57,995,564 (GRCm39)	T377K	probably benign	Het
Garnl3	T	C	2: 32,924,139 (GRCm39)	I248V	probably benign	Het
Glod4	A	G	11: 76,128,534 (GRCm39)	Y104H	probably damaging	Het
Glrb	T	C	3: 80,767,482 (GRCm39)	Y246C	probably damaging	Het
Gm5292	A	G	5: 44,101,752 (GRCm39)		noncoding transcript	Het
Gm5424	C	A	10: 61,908,086 (GRCm39)		noncoding transcript	Het
Gm7276	C	T	18: 77,273,431 (GRCm39)		probably benign	Het
Golga5	A	G	12: 102,458,390 (GRCm39)	N611S	possibly damaging	Het
Gucy2c	A	C	6: 136,721,025 (GRCm39)	Y391D	probably damaging	Het
H6pd	A	G	4: 150,066,130 (GRCm39)	I760T	probably damaging	Het
Hapln2	T	A	3: 87,931,712 (GRCm39)	I5F	possibly damaging	Het
Hdac11	G	T	6: 91,145,806 (GRCm39)	V169L	probably benign	Het
Hectd2	T	C	19: 36,586,816 (GRCm39)	V557A	possibly damaging	Het
Huwe1	T	A	X: 150,647,749 (GRCm39)	N747K	probably benign	Het
Ints1	A	G	5: 139,760,277 (GRCm39)	S66P	probably benign	Het
Ipo7	A	G	7: 109,626,339 (GRCm39)	D49G	probably damaging	Het
Itgb4	G	A	11: 115,879,346 (GRCm39)	C575Y	probably damaging	Het
Klhl3	A	G	13: 58,181,044 (GRCm39)	V250A	possibly damaging	Het
Klk1b24	A	G	7: 43,839,852 (GRCm39)		probably null	Het
Map3k11	T	A	19: 5,745,600 (GRCm39)	Y333*	probably null	Het
Mbp	A	G	18: 82,572,474 (GRCm39)	T57A	probably benign	Het
Myh9	A	G	15: 77,657,464 (GRCm39)		probably benign	Het
Mypn	C	T	10: 62,961,472 (GRCm39)	R1040Q	probably damaging	Het
Ncdn	A	G	4: 126,645,732 (GRCm39)		probably null	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Or10ab5	T	A	7: 108,245,571 (GRCm39)	T71S	probably benign	Het
Or11h4	AGGGATTGGG	AGGGATTGGGATTGGG	14: 50,974,144 (GRCm39)		probably benign	Het
Or4k15c	A	G	14: 50,321,499 (GRCm39)	F213S	probably benign	Het
Or51b6b	T	C	7: 103,310,005 (GRCm39)		probably null	Het
Or51f1	G	A	7: 102,505,569 (GRCm39)	Q307*	probably null	Het
Or8d2	T	A	9: 38,759,901 (GRCm39)	S164T	possibly damaging	Het
Pbx3	T	C	2: 34,114,464 (GRCm39)	T82A	possibly damaging	Het
Pi15	T	C	1: 17,672,945 (GRCm39)	F48S	probably benign	Het
Pkhd1	A	G	1: 20,655,376 (GRCm39)		probably benign	Het
Ppard	C	G	17: 28,505,348 (GRCm39)	R12G	unknown	Het
Prrc2c	G	T	1: 162,532,551 (GRCm39)		probably benign	Het
Prune1	A	G	3: 95,175,553 (GRCm39)	Y41H	possibly damaging	Het
Rcsd1	T	C	1: 165,483,541 (GRCm39)	D150G	probably damaging	Het
Rgs12	A	T	5: 35,123,456 (GRCm39)	Q413L	possibly damaging	Het
Rhox2h	A	G	X: 36,850,848 (GRCm39)	Y185H	probably damaging	Het
Rnf17	T	A	14: 56,741,464 (GRCm39)	C1306*	probably null	Het
Ros1	T	A	10: 51,976,183 (GRCm39)	M1499L	probably benign	Het
Rubcnl	T	C	14: 75,284,989 (GRCm39)	S503P	probably damaging	Het
Sap18b	A	T	8: 96,552,342 (GRCm39)	R117S	probably benign	Het
Shank2	A	G	7: 143,964,336 (GRCm39)	E858G	probably damaging	Het
Shtn1	T	C	19: 59,020,632 (GRCm39)	R197G	probably damaging	Het
Slamf8	G	A	1: 172,412,087 (GRCm39)	R163*	probably null	Het
Slc6a3	T	C	13: 73,714,411 (GRCm39)	I392T	possibly damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Sp8	T	C	12: 118,812,751 (GRCm39)	V202A	possibly damaging	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Stpg2	A	T	3: 139,023,162 (GRCm39)	T393S	probably benign	Het
Tagap	T	C	17: 8,150,299 (GRCm39)	M228T	probably damaging	Het
Tagap	A	G	17: 8,152,377 (GRCm39)	T521A	probably benign	Het
Tas2r123	T	G	6: 132,824,528 (GRCm39)	S142A	probably damaging	Het
Tat	T	A	8: 110,718,261 (GRCm39)	S49T	probably benign	Het
Thbs2	T	C	17: 14,906,075 (GRCm39)	N275S	probably benign	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tnrc6a	T	C	7: 122,792,140 (GRCm39)	V1886A	possibly damaging	Het
Trim56	G	A	5: 137,143,252 (GRCm39)	A88V	probably damaging	Het
Trio	A	G	15: 27,841,842 (GRCm39)	Y1081H	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ube2o	G	A	11: 116,432,320 (GRCm39)	T882I	probably benign	Het
Upk3a	A	G	15: 84,904,815 (GRCm39)	T188A	possibly damaging	Het
Vmn1r79	A	C	7: 11,910,358 (GRCm39)	D80A	probably damaging	Het
Wls	C	A	3: 159,617,450 (GRCm39)	T375K	probably benign	Het
Wnt5a	T	C	14: 28,233,835 (GRCm39)	M1T	probably null	Het
Zcchc4	A	G	5: 52,953,932 (GRCm39)	E204G	probably damaging	Het
Zfp513	G	A	5: 31,357,678 (GRCm39)	P232S	possibly 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
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
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'- GTGAGAGTACAACACCTCCTCC -3'
(R):5'- CACAGACAGCTGCTTCAGTC -3'

Sequencing Primer
(F):5'- TCCTCCAGGAAGCCCTCC -3'
(R):5'- AGACAGCTGCTTCAGTCCACTG -3'

Posted On

2014-06-23