Mutagenetix > Incidental Mutation

Incidental Mutation 'R3977:Trp63'

474984

Institutional Source

Beutler Lab

Gene Symbol

Trp63

Ensembl Gene

ENSMUSG00000022510

Gene Name

transformation related protein 63

Synonyms

TAp63, deltaNp63, p63, p73L, p51/p63, KET protein, Trp53rp1

MMRRC Submission

040940-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R3977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25683763-25892102 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 25820740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040231] [ENSMUST00000065523] [ENSMUST00000115304] [ENSMUST00000115305] [ENSMUST00000115306] [ENSMUST00000115307] [ENSMUST00000115308] [ENSMUST00000115310]

AlphaFold

O88898

Predicted Effect

probably benign
Transcript: ENSMUST00000040231

SMART Domains

Protein: ENSMUSP00000038117
Gene: ENSMUSG00000022510

Domain	Start	End	E-Value	Type
Pfam:P53	69	265	5.4e-110	PFAM
Pfam:P53_tetramer	297	338	2.4e-20	PFAM
low complexity region	343	356	N/A	INTRINSIC
low complexity region	358	369	N/A	INTRINSIC
SAM	447	513	1.4e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065523

SMART Domains

Protein: ENSMUSP00000067005
Gene: ENSMUSG00000022510

Domain	Start	End	E-Value	Type
Pfam:P53	163	359	4.9e-110	PFAM
Pfam:P53_tetramer	391	432	2.2e-20	PFAM
low complexity region	437	450	N/A	INTRINSIC
low complexity region	452	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115304

SMART Domains

Protein: ENSMUSP00000110959
Gene: ENSMUSG00000022510

Domain	Start	End	E-Value	Type
Pfam:P53	69	265	1.5e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115305

SMART Domains

Protein: ENSMUSP00000110960
Gene: ENSMUSG00000022510

Domain	Start	End	E-Value	Type
Pfam:P53	69	265	1.1e-110	PFAM
Pfam:P53_tetramer	297	338	5.5e-21	PFAM
low complexity region	343	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115306

SMART Domains

Protein: ENSMUSP00000110961
Gene: ENSMUSG00000022510

Domain	Start	End	E-Value	Type
Pfam:P53	69	265	2.7e-110	PFAM
Pfam:P53_tetramer	293	334	9.2e-21	PFAM
low complexity region	339	352	N/A	INTRINSIC
low complexity region	354	365	N/A	INTRINSIC
SAM	443	509	1.4e-7	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000115307
AA Change: E226G

SMART Domains

Protein: ENSMUSP00000110962
Gene: ENSMUSG00000022510
AA Change: E226G

Domain	Start	End	E-Value	Type
Pfam:P53	163	200	1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115308

SMART Domains

Protein: ENSMUSP00000110963
Gene: ENSMUSG00000022510

Domain	Start	End	E-Value	Type
Pfam:P53	163	359	3.6e-110	PFAM
Pfam:P53_tetramer	387	428	1.8e-20	PFAM
low complexity region	433	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115310

SMART Domains

Protein: ENSMUSP00000110965
Gene: ENSMUSG00000022510

Domain	Start	End	E-Value	Type
Pfam:P53	163	359	1.3e-112	PFAM
Pfam:P53_tetramer	391	431	7e-21	PFAM
low complexity region	437	450	N/A	INTRINSIC
low complexity region	452	463	N/A	INTRINSIC
SAM	541	607	1.4e-7	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: This gene encodes tumor protein p63, a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include tumor proteins p53, p63, and p73, which have high sequence similarity to one another. This similarity allows p63 and p73 to transactivate p53-responsive genes causing cell cycle arrest and apoptosis. The family members can interact with each other in many ways, including direct and indirect protein interactions. This results in mutual regulation of target gene promoters. Tumor protein p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Both alternative splicing and the use of alternative promoters result in multiple transcript variants encoding different protein isoforms.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygotes for null mutations lack hair follicles, teeth, eyelids, and all squamous epithelia and derivatives including mammary, lacrymal, salivary, and prostate glands. Mutants have craniofacial anomalies, missing or truncated limbs, and small genitalia, and they die perinatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,981,838	P942L	possibly damaging	Het
Adam28	A	G	14: 68,610,994	V671A	probably benign	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Bicral	T	A	17: 46,830,991	M1L	unknown	Het
Brpf3	A	G	17: 28,807,042	E363G	possibly damaging	Het
Ccdc96	T	C	5: 36,485,166	L172P	possibly damaging	Het
Cln3	G	A	7: 126,580,136		probably benign	Het
Dnah7c	T	C	1: 46,628,911	I1526T	possibly damaging	Het
Fmo3	T	G	1: 162,958,578	E281A	probably damaging	Het
Frem2	A	G	3: 53,652,070	I1672T	probably benign	Het
Gbp2b	A	G	3: 142,603,709	I194V	probably benign	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
Hk1	A	G	10: 62,290,319	V396A	probably benign	Het
Hoxc13	T	C	15: 102,921,240	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Il19	A	T	1: 130,936,033	C74S	probably damaging	Het
Krt2	T	C	15: 101,811,127	T703A	unknown	Het
Lrig2	A	T	3: 104,457,844	V664E	probably damaging	Het
Lrrc37a	T	C	11: 103,457,604	K2755R	unknown	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mbtd1	A	G	11: 93,905,175	N13D	probably benign	Het
Mfsd4b5	T	C	10: 39,974,708		probably benign	Het
Nras	A	G	3: 103,060,225	I46V	probably benign	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Ogfod2	C	A	5: 124,113,209		probably null	Het
Olfr1264	C	A	2: 90,021,745	G107V	probably damaging	Het
Olfr1369-ps1	T	A	13: 21,115,861	H56Q	probably benign	Het
Olfr1419	C	A	19: 11,870,505	R237L	possibly damaging	Het
Olfr1420	T	A	19: 11,896,516	F165Y	probably damaging	Het
Olfr774	C	T	10: 129,238,508	R120C	probably damaging	Het
Olfr96	T	C	17: 37,225,158	V11A	probably benign	Het
Pkmyt1	A	G	17: 23,735,331	M362V	probably benign	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Ppp1r12b	A	G	1: 134,765,975	S983P	probably benign	Het
Ptpn22	A	G	3: 103,873,641		probably benign	Het
Raph1	A	T	1: 60,498,523	D491E	probably benign	Het
Rc3h1	A	G	1: 160,959,399		probably null	Het
Rtn4	T	C	11: 29,693,819	L5P	probably benign	Het
Sdccag3	T	A	2: 26,384,793	N364I	probably damaging	Het
Slc23a4	C	T	6: 34,953,788	V400I	probably benign	Het
Slco1a5	A	G	6: 142,258,972		probably benign	Het
Smpd1	T	C	7: 105,555,901	F329S	probably benign	Het
Sycp2l	A	G	13: 41,141,964	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,036,317	L262P	probably benign	Het
Ten1	G	A	11: 116,216,945		probably null	Het
Tfap2d	C	G	1: 19,104,494	S57C	possibly damaging	Het
Tnr	A	G	1: 159,892,023	M957V	probably benign	Het
Trbv13-3	A	G	6: 41,130,145		probably benign	Het
Trp53rkb	C	T	2: 166,795,526	A134V	possibly damaging	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r74	T	C	7: 85,958,137	Y126C	probably benign	Het
Vmn2r96	T	A	17: 18,597,679	I698N	probably damaging	Het

Other mutations in Trp63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00935:Trp63	APN	16	25871076	missense	probably damaging	1.00
IGL01402:Trp63	APN	16	25820385	splice site	probably benign
IGL01404:Trp63	APN	16	25820385	splice site	probably benign
IGL01874:Trp63	APN	16	25882585	missense	possibly damaging	0.88
IGL01887:Trp63	APN	16	25865319	missense	probably damaging	1.00
IGL02008:Trp63	APN	16	25862461	missense	probably damaging	1.00
IGL02336:Trp63	APN	16	25820442	missense	probably damaging	1.00
IGL02470:Trp63	APN	16	25820384	splice site	probably benign
IGL02720:Trp63	APN	16	25863741	missense	probably damaging	0.96
IGL03230:Trp63	APN	16	25889010	missense	probably damaging	1.00
PIT4142001:Trp63	UTSW	16	25865263	missense	probably damaging	1.00
R0086:Trp63	UTSW	16	25871087	missense	probably damaging	1.00
R0281:Trp63	UTSW	16	25764302	splice site	probably benign
R1448:Trp63	UTSW	16	25889120	missense	possibly damaging	0.67
R1517:Trp63	UTSW	16	25889253	missense	probably damaging	1.00
R1539:Trp63	UTSW	16	25884849	missense	probably benign	0.02
R3922:Trp63	UTSW	16	25889009	missense	probably damaging	1.00
R3978:Trp63	UTSW	16	25820740	intron	probably benign
R3979:Trp63	UTSW	16	25820740	intron	probably benign
R4689:Trp63	UTSW	16	25865262	missense	possibly damaging	0.90
R4870:Trp63	UTSW	16	25866218	makesense	probably null
R5009:Trp63	UTSW	16	25868227	missense	probably damaging	0.99
R5033:Trp63	UTSW	16	25763306	missense	probably damaging	0.99
R5058:Trp63	UTSW	16	25882594	missense	probably damaging	1.00
R5118:Trp63	UTSW	16	25889010	missense	unknown
R5354:Trp63	UTSW	16	25684355	splice site	probably null
R5363:Trp63	UTSW	16	25863718	missense	probably damaging	0.99
R5668:Trp63	UTSW	16	25866185	missense	possibly damaging	0.52
R6004:Trp63	UTSW	16	25763396	critical splice donor site	probably null
R6029:Trp63	UTSW	16	25868214	missense	probably damaging	1.00
R6170:Trp63	UTSW	16	25884853	missense	probably benign	0.28
R6186:Trp63	UTSW	16	25876733	intron	probably benign
R6266:Trp63	UTSW	16	25862460	missense	probably damaging	0.99
R6466:Trp63	UTSW	16	25763358	missense	probably damaging	1.00
R6486:Trp63	UTSW	16	25865340	missense	probably damaging	0.99
R6913:Trp63	UTSW	16	25889168	missense	probably damaging	1.00
R6980:Trp63	UTSW	16	25802093	missense	probably benign
R7097:Trp63	UTSW	16	25820477	missense	probably damaging	1.00
R7122:Trp63	UTSW	16	25820477	missense	probably damaging	1.00
R7544:Trp63	UTSW	16	25802087	missense	probably benign
R7690:Trp63	UTSW	16	25876733	missense	unknown
R7743:Trp63	UTSW	16	25882625	missense	probably benign	0.05
R7766:Trp63	UTSW	16	25868219	missense	probably damaging	0.97
R7792:Trp63	UTSW	16	25868224	missense	possibly damaging	0.94
R7816:Trp63	UTSW	16	25889240	missense	probably damaging	1.00
R7978:Trp63	UTSW	16	25820686	missense	unknown
R8324:Trp63	UTSW	16	25876734	missense	unknown
R8857:Trp63	UTSW	16	25820476	missense	probably damaging	1.00
R9041:Trp63	UTSW	16	25763333	missense	probably benign
R9123:Trp63	UTSW	16	25820497	missense	probably damaging	1.00
R9491:Trp63	UTSW	16	25876722	missense	unknown
R9642:Trp63	UTSW	16	25863758	missense	probably benign	0.35
Z1088:Trp63	UTSW	16	25763313	missense	probably benign	0.06

Predicted Primers

Posted On

2017-04-14