Mutagenetix > Incidental Mutation

Incidental Mutation 'R0243:Tfap2b'

37813

Institutional Source

Beutler Lab

Gene Symbol

Tfap2b

Ensembl Gene

ENSMUSG00000025927

Gene Name

transcription factor AP-2 beta

Synonyms

Tcfap2b, E130018K07Rik, AP-2(beta)

MMRRC Submission

038481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0243 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

19279138-19308800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19304347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 368 (I368F)

Ref Sequence

ENSEMBL: ENSMUSP00000064488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027059] [ENSMUST00000064976] [ENSMUST00000187754]

AlphaFold

Q61313

Predicted Effect

probably benign
Transcript: ENSMUST00000027059
AA Change: I386F

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: I386F

Domain	Start	End	E-Value	Type
low complexity region	61	83	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC
low complexity region	196	210	N/A	INTRINSIC
Pfam:TF_AP-2	228	428	7.1e-94	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000064976
AA Change: I368F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: I368F

Domain	Start	End	E-Value	Type
low complexity region	43	65	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
low complexity region	178	192	N/A	INTRINSIC
Pfam:TF_AP-2	208	415	2.2e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187754
AA Change: I386F

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927
AA Change: I386F

Domain	Start	End	E-Value	Type
low complexity region	61	83	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC
low complexity region	196	210	N/A	INTRINSIC
Pfam:TF_AP-2	226	433	2.2e-101	PFAM

Meta Mutation Damage Score

0.2131

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have kidney cysts and show neonatal or postnatal lethality, depending on strain background. On a congenic 129P2 background, mice have tremors, polydactyly, defective tubular secretory function and ion homeostasis, hypocalcemia, hyperphosphatemia, hyperuremia, and terminal renal failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 64,055,806 (GRCm39)	Y181D	probably benign	Het
1700029H14Rik	A	G	8: 13,604,715 (GRCm39)	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,643,833 (GRCm39)	D7G	probably damaging	Het
Acap1	A	G	11: 69,776,252 (GRCm39)	V249A	probably damaging	Het
Acat2	A	T	17: 13,162,908 (GRCm39)	D313E	probably benign	Het
Actn4	T	C	7: 28,604,823 (GRCm39)	T325A	probably benign	Het
Adamdec1	C	T	14: 68,819,407 (GRCm39)		probably null	Het
Adat2	A	G	10: 13,429,037 (GRCm39)	T10A	probably benign	Het
Aff4	T	A	11: 53,288,685 (GRCm39)	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,621,825 (GRCm39)	P104L	possibly damaging	Het
Alox12	G	T	11: 70,133,542 (GRCm39)	T594K	possibly damaging	Het
Als2	C	A	1: 59,254,546 (GRCm39)	K270N	probably benign	Het
Ankhd1	T	A	18: 36,767,787 (GRCm39)	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,470,778 (GRCm39)	I69N	probably damaging	Het
Aox4	G	A	1: 58,252,235 (GRCm39)	V37I	probably benign	Het
Arfgap3	A	G	15: 83,214,714 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,846,080 (GRCm39)		probably null	Het
Asic1	C	T	15: 99,596,498 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,366,057 (GRCm39)	N776S	probably benign	Het
Bbs7	A	G	3: 36,659,883 (GRCm39)	I184T	probably benign	Het
Bbs9	A	T	9: 22,425,297 (GRCm39)	H117L	probably damaging	Het
Bnip2	T	C	9: 69,902,787 (GRCm39)	W10R	probably damaging	Het
Brd4	G	T	17: 32,443,097 (GRCm39)	Q175K	probably benign	Het
Bysl	A	T	17: 47,917,821 (GRCm39)	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,174,140 (GRCm39)		probably benign	Het
Cc2d2a	T	C	5: 43,853,980 (GRCm39)		probably benign	Het
Ccdc134	G	T	15: 82,025,147 (GRCm39)	E215D	probably damaging	Het
Celsr3	G	T	9: 108,720,923 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 9,781,780 (GRCm39)	D428V	probably damaging	Het
Cog1	A	G	11: 113,547,821 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,281,520 (GRCm39)		probably benign	Het
Cyp4f13	G	A	17: 33,143,943 (GRCm39)		probably benign	Het
Dffb	T	A	4: 154,049,835 (GRCm39)	K343*	probably null	Het
Dnah9	T	A	11: 65,802,678 (GRCm39)	I224F	possibly damaging	Het
Dolk	A	T	2: 30,176,031 (GRCm39)	C5S	probably benign	Het
Dynlt2b	A	G	16: 32,245,705 (GRCm39)	D118G	probably damaging	Het
Ebf1	A	T	11: 44,759,915 (GRCm39)		probably benign	Het
Elac1	A	G	18: 73,875,434 (GRCm39)	L199P	probably damaging	Het
Elmod1	A	C	9: 53,842,831 (GRCm39)		probably benign	Het
Ep400	A	C	5: 110,872,273 (GRCm39)		probably benign	Het
F10	A	T	8: 13,098,196 (GRCm39)	N133I	probably damaging	Het
Fasn	A	G	11: 120,706,141 (GRCm39)	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,622,819 (GRCm39)	E12G	probably damaging	Het
Fer	G	T	17: 64,385,941 (GRCm39)	L304F	probably benign	Het
Filip1	A	C	9: 79,726,285 (GRCm39)	L778R	probably damaging	Het
Fli1	A	T	9: 32,335,277 (GRCm39)	I385N	probably benign	Het
Fpgs	A	T	2: 32,582,506 (GRCm39)	L89*	probably null	Het
Gab2	T	G	7: 96,948,448 (GRCm39)	I346R	probably damaging	Het
Gm10764	G	A	10: 87,126,841 (GRCm39)	G83R	unknown	Het
Gpr83	G	T	9: 14,776,138 (GRCm39)	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,442,695 (GRCm39)	L783P	possibly damaging	Het
Gys2	A	G	6: 142,418,394 (GRCm39)		probably benign	Het
Heatr9	C	T	11: 83,404,164 (GRCm39)	V378I	possibly damaging	Het
Helz	A	T	11: 107,528,740 (GRCm39)	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,296,907 (GRCm39)	Q459L	probably damaging	Het
Ints12	T	C	3: 132,814,806 (GRCm39)	S338P	probably benign	Het
Kif13a	T	C	13: 46,944,827 (GRCm39)	T925A	probably benign	Het
Kif1a	C	T	1: 92,969,815 (GRCm39)	V1051I	probably damaging	Het
Kif7	T	A	7: 79,349,308 (GRCm39)	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,748,018 (GRCm39)		probably benign	Het
Krt90	C	T	15: 101,471,110 (GRCm39)	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,827,572 (GRCm39)	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,258,974 (GRCm39)	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,216,289 (GRCm39)	E493G	probably damaging	Het
Matk	T	G	10: 81,094,326 (GRCm39)	L28V	probably benign	Het
Mcc	T	A	18: 44,892,366 (GRCm39)	T83S	probably benign	Het
Mtch1	A	T	17: 29,559,080 (GRCm39)	M204K	possibly damaging	Het
Muc4	T	G	16: 32,586,120 (GRCm39)	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,093,405 (GRCm39)		probably null	Het
Myoz3	T	C	18: 60,712,023 (GRCm39)	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,503,438 (GRCm39)	V196A	probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nup214	T	A	2: 31,888,069 (GRCm39)		probably benign	Het
Or2aj4	T	G	16: 19,385,044 (GRCm39)	E196D	probably damaging	Het
Or2y13	T	C	11: 49,414,739 (GRCm39)	L63P	probably damaging	Het
Or4c126	T	A	2: 89,824,150 (GRCm39)	F138I	probably benign	Het
Pank3	T	C	11: 35,672,543 (GRCm39)		probably benign	Het
Parm1	A	T	5: 91,742,153 (GRCm39)	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,583,244 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,825,434 (GRCm39)	K4661M	unknown	Het
Pcsk7	A	C	9: 45,827,357 (GRCm39)	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,668,200 (GRCm39)	S784I	possibly damaging	Het
Pex6	T	A	17: 47,034,663 (GRCm39)		probably null	Het
Pi4ka	C	T	16: 17,115,499 (GRCm39)	V1384M	probably benign	Het
Polr3f	T	A	2: 144,378,195 (GRCm39)		probably benign	Het
Ppp2r3d	A	T	9: 101,089,483 (GRCm39)	V280E	probably damaging	Het
Prdm14	C	T	1: 13,192,672 (GRCm39)	G356R	probably damaging	Het
Prepl	A	G	17: 85,372,466 (GRCm39)		probably null	Het
Primpol	T	C	8: 47,052,849 (GRCm39)	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,814,307 (GRCm39)	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,642,253 (GRCm39)	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,446,662 (GRCm39)	D405E	probably damaging	Het
Rbm26	T	C	14: 105,369,374 (GRCm39)	T686A	probably benign	Het
Resf1	T	C	6: 149,227,739 (GRCm39)	Y262H	probably damaging	Het
Rint1	A	G	5: 24,021,930 (GRCm39)		probably benign	Het
Rnasek	G	T	11: 70,129,266 (GRCm39)	Y62*	probably null	Het
Rnf17	T	G	14: 56,719,541 (GRCm39)	N930K	possibly damaging	Het
Sap130	A	G	18: 31,813,734 (GRCm39)		probably benign	Het
Sectm1b	T	A	11: 120,946,611 (GRCm39)	I95F	probably damaging	Het
Sema4f	A	T	6: 82,916,447 (GRCm39)	I53N	possibly damaging	Het
Shld1	T	C	2: 132,592,559 (GRCm39)	V202A	probably benign	Het
Siglec1	T	C	2: 130,927,396 (GRCm39)	T137A	probably damaging	Het
Six5	A	C	7: 18,830,947 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,322,721 (GRCm39)	I345N	probably benign	Het
Slc25a27	A	T	17: 43,954,518 (GRCm39)	M316K	probably benign	Het
Slc2a8	A	T	2: 32,870,116 (GRCm39)		probably benign	Het
Snx1	G	A	9: 66,008,608 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,992,684 (GRCm39)	T1727A	probably benign	Het
Spata20	T	C	11: 94,372,472 (GRCm39)	D633G	probably benign	Het
Spock1	C	T	13: 57,583,922 (GRCm39)		probably null	Het
Sra1	A	T	18: 36,808,759 (GRCm39)	Y291*	probably null	Het
Sspo	C	A	6: 48,470,120 (GRCm39)	P4520T	probably damaging	Het
Stat4	A	G	1: 52,051,016 (GRCm39)	N25S	probably benign	Het
Tbx18	A	T	9: 87,597,569 (GRCm39)		probably benign	Het
Tep1	T	A	14: 51,084,444 (GRCm39)	I187F	probably damaging	Het
Tmtc1	A	T	6: 148,148,335 (GRCm39)	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,556,613 (GRCm39)		probably benign	Het
Tnc	G	T	4: 63,888,657 (GRCm39)	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,511,700 (GRCm39)	P281S	probably benign	Het
Trim45	A	G	3: 100,837,160 (GRCm39)	R499G	probably benign	Het
Tulp3	A	T	6: 128,302,921 (GRCm39)	Y299*	probably null	Het
Ube4a	A	T	9: 44,857,476 (GRCm39)		probably benign	Het
Ubr3	T	G	2: 69,781,749 (GRCm39)	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,817,431 (GRCm39)	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,578,327 (GRCm39)	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,907,839 (GRCm39)	V24I	probably benign	Het
Wdr41	C	T	13: 95,153,914 (GRCm39)	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,020,755 (GRCm39)	N44D	probably benign	Het
Wnt7b	C	A	15: 85,443,103 (GRCm39)		probably null	Het
Zfp108	T	C	7: 23,961,208 (GRCm39)	S600P	possibly damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp385b	A	G	2: 77,246,072 (GRCm39)		probably null	Het
Zfp395	T	C	14: 65,623,929 (GRCm39)	S133P	probably benign	Het
Zfp407	T	A	18: 84,576,836 (GRCm39)	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,187,008 (GRCm39)	N191T	possibly damaging	Het
Zfp687	T	C	3: 94,918,864 (GRCm39)	S303G	probably damaging	Het
Zfp759	T	A	13: 67,286,877 (GRCm39)	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,409,095 (GRCm39)	E1690Q	probably damaging	Het

Other mutations in Tfap2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Tfap2b	APN	1	19,284,250 (GRCm39)	missense	possibly damaging	0.94
IGL01868:Tfap2b	APN	1	19,284,506 (GRCm39)	missense	probably damaging	0.98
IGL02408:Tfap2b	APN	1	19,304,485 (GRCm39)	missense	probably damaging	0.99
IGL02412:Tfap2b	APN	1	19,289,427 (GRCm39)	missense	probably damaging	0.99
R0552:Tfap2b	UTSW	1	19,304,449 (GRCm39)	missense	probably damaging	1.00
R1077:Tfap2b	UTSW	1	19,304,373 (GRCm39)	nonsense	probably null
R1541:Tfap2b	UTSW	1	19,304,294 (GRCm39)	missense	probably damaging	1.00
R1816:Tfap2b	UTSW	1	19,279,436 (GRCm39)	missense	probably damaging	0.98
R2474:Tfap2b	UTSW	1	19,284,599 (GRCm39)	missense	possibly damaging	0.49
R5019:Tfap2b	UTSW	1	19,296,666 (GRCm39)	missense	probably benign	0.31
R5300:Tfap2b	UTSW	1	19,298,677 (GRCm39)	missense	probably damaging	1.00
R5331:Tfap2b	UTSW	1	19,296,722 (GRCm39)	missense	probably benign
R5383:Tfap2b	UTSW	1	19,296,722 (GRCm39)	missense	probably benign
R5541:Tfap2b	UTSW	1	19,284,250 (GRCm39)	missense	possibly damaging	0.94
R5744:Tfap2b	UTSW	1	19,289,445 (GRCm39)	missense	probably benign	0.15
R7239:Tfap2b	UTSW	1	19,304,404 (GRCm39)	missense	probably damaging	1.00
R7684:Tfap2b	UTSW	1	19,284,511 (GRCm39)	missense	probably damaging	1.00
R7686:Tfap2b	UTSW	1	19,284,511 (GRCm39)	missense	probably damaging	1.00
R7775:Tfap2b	UTSW	1	19,304,531 (GRCm39)	missense	probably damaging	0.98
R7778:Tfap2b	UTSW	1	19,304,531 (GRCm39)	missense	probably damaging	0.98
R7824:Tfap2b	UTSW	1	19,304,531 (GRCm39)	missense	probably damaging	0.98
R8305:Tfap2b	UTSW	1	19,296,660 (GRCm39)	missense	possibly damaging	0.80
R8816:Tfap2b	UTSW	1	19,284,337 (GRCm39)	missense	probably benign	0.00
R9040:Tfap2b	UTSW	1	19,304,314 (GRCm39)	missense	probably damaging	1.00
R9223:Tfap2b	UTSW	1	19,282,649 (GRCm39)	critical splice donor site	probably null
R9629:Tfap2b	UTSW	1	19,289,468 (GRCm39)	missense	probably damaging	1.00
R9715:Tfap2b	UTSW	1	19,284,373 (GRCm39)	missense	probably damaging	0.96
X0026:Tfap2b	UTSW	1	19,296,774 (GRCm39)	missense	probably damaging	1.00
Z1176:Tfap2b	UTSW	1	19,304,357 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TCCTAAAGCAGAATACAGGTGGTCCC -3'
(R):5'- GTTGTTCAAGAACATCTTGTCCATGCC -3'

Sequencing Primer
(F):5'- CGAAAGATAGCTTTGCTGTCC -3'
(R):5'- GAACATCTTGTCCATGCCTTTGAG -3'

Posted On

2013-05-23