Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4142001:Trp63'

486995

Institutional Source

Beutler Lab

Gene Symbol

Trp63

Ensembl Gene

ENSMUSG00000022510

Gene Name

transformation related protein 63

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

PIT4142001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25502513-25710838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25684013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 300 (T300I)

Ref Sequence

ENSEMBL: ENSMUSP00000110965 (fasta)

Gene Model

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

AlphaFold

O88898

Predicted Effect

probably damaging
Transcript: ENSMUST00000040231
AA Change: T206I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038117
Gene: ENSMUSG00000022510
AA Change: T206I

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 damaging
Transcript: ENSMUST00000065523
AA Change: T300I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067005
Gene: ENSMUSG00000022510
AA Change: T300I

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 damaging
Transcript: ENSMUST00000115304
AA Change: T206I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110959
Gene: ENSMUSG00000022510
AA Change: T206I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115305
AA Change: T206I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110960
Gene: ENSMUSG00000022510
AA Change: T206I

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 damaging
Transcript: ENSMUST00000115306
AA Change: T206I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110961
Gene: ENSMUSG00000022510
AA Change: T206I

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

probably damaging
Transcript: ENSMUST00000115308
AA Change: T300I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110963
Gene: ENSMUSG00000022510
AA Change: T300I

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 damaging
Transcript: ENSMUST00000115310
AA Change: T300I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110965
Gene: ENSMUSG00000022510
AA Change: T300I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (105/114)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,981,022 (GRCm39)	Y107S	possibly damaging	Het
Abhd8	T	C	8: 71,914,499 (GRCm39)	E43G	probably damaging	Het
Ap1b1	T	G	11: 4,990,360 (GRCm39)	L872W	probably damaging	Het
Arid1b	T	A	17: 5,389,518 (GRCm39)	M1688K	probably damaging	Het
Brca1	T	C	11: 101,413,248 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,952,675 (GRCm39)	V1151I	probably benign	Het
Card6	T	A	15: 5,128,113 (GRCm39)	Q1094H	unknown	Het
Cd22	C	A	7: 30,577,224 (GRCm39)	V28F	possibly damaging	Het
Cdc42bpa	A	T	1: 179,859,125 (GRCm39)	N109I	probably damaging	Het
Ces2b	T	C	8: 105,563,442 (GRCm39)	Y390H	probably damaging	Het
Clca4a	T	C	3: 144,674,072 (GRCm39)	Y221C	probably damaging	Het
Cntnap5a	G	T	1: 115,612,686 (GRCm39)		probably benign	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dcc	A	T	18: 71,517,297 (GRCm39)		probably null	Het
Dnaaf5	A	G	5: 139,171,273 (GRCm39)	K812E	possibly damaging	Het
Dnajc13	T	C	9: 104,115,672 (GRCm39)	T46A	probably damaging	Het
Duxf1	A	G	10: 58,059,276 (GRCm39)	C493R	probably benign	Het
Duxf1	C	T	10: 58,060,704 (GRCm39)	E17K	possibly damaging	Het
Duxf1	G	A	10: 58,060,136 (GRCm39)		probably benign	Het
Duxf1	G	C	10: 58,059,278 (GRCm39)	P492R	probably damaging	Het
Duxf3	C	A	10: 58,066,990 (GRCm39)	C503F	probably damaging	Het
Duxf3	C	A	10: 58,066,810 (GRCm39)	R563M	probably damaging	Het
Duxf3	A	C	10: 58,067,498 (GRCm39)	S27A	probably benign	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Etfdh	C	T	3: 79,517,174 (GRCm39)	S345N	probably damaging	Het
Fat3	A	G	9: 15,903,414 (GRCm39)		probably null	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gabra4	T	C	5: 71,729,106 (GRCm39)	N558S	probably damaging	Het
Gm10718	A	T	9: 3,024,417 (GRCm39)	T134S	probably benign	Het
Gm10722	T	C	9: 3,001,350 (GRCm39)	L142S	probably benign	Het
Gm10800	T	C	2: 98,497,163 (GRCm39)	R152G	probably benign	Het
Gm10800	C	A	2: 98,497,250 (GRCm39)	V123F	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCA	C	2: 98,497,361 (GRCm39)		probably null	Het
Gm10800	A	C	2: 98,496,893 (GRCm39)	F220C	probably benign	Het
Gm10801	A	G	2: 98,492,648 (GRCm39)	R23G	probably benign	Het
Gm11168	C	T	9: 3,004,605 (GRCm39)	P49S	probably benign	Het
Gm21663	C	T	5: 26,143,767 (GRCm39)	R185H	probably benign	Het
Gm21738	G	A	14: 19,417,330 (GRCm38)	S66L	probably benign	Het
Gpr107	T	A	2: 31,057,083 (GRCm39)	D58E	probably benign	Het
Gstm7	AAC	A	3: 107,838,799 (GRCm39)		probably null	Het
Hc	C	T	2: 34,921,833 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,194,000 (GRCm39)		probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,089 (GRCm39)	M327K	probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Ifi206	A	G	1: 173,308,730 (GRCm39)	V422A	probably benign	Het
Igf2bp3	A	G	6: 49,094,317 (GRCm39)	V151A	probably damaging	Het
Ivl	TTGC	T	3: 92,479,608 (GRCm39)		probably benign	Het
Kndc1	TC	T	7: 139,503,692 (GRCm39)		probably null	Het
Lig1	GC	G	7: 13,039,850 (GRCm39)		probably null	Het
Lrit1	A	G	14: 36,783,998 (GRCm39)	Y442C	probably damaging	Het
Map3k21	C	A	8: 126,664,047 (GRCm39)	P536H	probably damaging	Het
Marchf10	T	A	11: 105,281,346 (GRCm39)	Y313F	probably benign	Het
Mcm5	A	G	8: 75,853,864 (GRCm39)	H706R	probably benign	Het
Mlycd	T	G	8: 120,137,199 (GRCm39)	I473S	probably damaging	Het
Muc4	T	A	16: 32,755,684 (GRCm38)		probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc4	C	G	16: 32,755,676 (GRCm38)		probably benign	Het
Myo5c	T	C	9: 75,191,230 (GRCm39)	V1088A	probably benign	Het
Nadk2	TG	T	15: 9,100,232 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,198,907 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,784 (GRCm39)	*309Q	probably null	Het
Pak2	A	T	16: 31,841,930 (GRCm39)	Y443N	probably damaging	Het
Pik3r6	T	C	11: 68,417,931 (GRCm39)	I73T	probably damaging	Het
Pla2g4c	A	G	7: 13,077,316 (GRCm39)	E286G	probably benign	Het
Plekhn1	G	A	4: 156,309,397 (GRCm39)	R196*	probably null	Het
Pramel41	A	C	5: 94,594,643 (GRCm39)	K168Q	probably benign	Het
Prdm10	T	A	9: 31,237,063 (GRCm39)	D145E	probably benign	Het
Ptgis	T	C	2: 167,048,750 (GRCm39)	Y422C	probably damaging	Het
Ralgapb	A	G	2: 158,272,342 (GRCm39)	E132G	probably benign	Het
Rasgrf1	G	A	9: 89,797,626 (GRCm39)	R168H	possibly damaging	Het
Rbmyf1	T	A	Y: 2,787,132 (GRCm39)	N228Y	probably benign	Het
Rpl5	T	C	5: 108,055,049 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,722,682 (GRCm39)	K2603E	probably damaging	Het
Sap130	T	C	18: 31,800,064 (GRCm39)		probably null	Het
Scn5a	C	A	9: 119,315,324 (GRCm39)	D1794Y	probably damaging	Het
Sec31a	A	T	5: 100,555,134 (GRCm39)	S29T	probably damaging	Het
Selplg	T	G	5: 113,957,689 (GRCm39)	K206Q	probably benign	Het
Sfmbt1	A	T	14: 30,538,714 (GRCm39)		probably null	Het
Sirpb1a	A	T	3: 15,476,258 (GRCm39)	F180I	probably benign	Het
Slc44a4	A	G	17: 35,140,251 (GRCm39)	I67V	probably damaging	Het
Sp110	T	C	1: 85,513,975 (GRCm39)	R261G	probably benign	Het
Sp110	C	T	1: 85,513,971 (GRCm39)	R262Q	probably benign	Het
Sp140	T	A	1: 85,528,893 (GRCm39)	Y5N	probably benign	Het
Sp140	A	G	1: 85,570,942 (GRCm39)	S461G	probably benign	Het
Sp140	G	C	1: 85,538,603 (GRCm39)	K113N	probably benign	Het
Sp140l1	G	A	1: 85,077,341 (GRCm39)	A75V	probably benign	Het
Sp140l2	A	C	1: 85,223,395 (GRCm39)		probably benign	Het
Speer4a2	A	T	5: 26,291,485 (GRCm39)	F107Y	probably benign	Het
Speer4a2	C	G	5: 26,294,093 (GRCm39)	W28C	probably damaging	Het
Stab2	A	T	10: 86,703,039 (GRCm39)	S1848R	possibly damaging	Het
Stat6	T	C	10: 127,494,099 (GRCm39)	V642A	possibly damaging	Het
Tfam	T	C	10: 71,070,813 (GRCm39)	K63R	possibly damaging	Het
Trim2	T	C	3: 84,098,164 (GRCm39)	N379S	probably benign	Het
Tymp	C	A	15: 89,260,548 (GRCm39)	W90L	probably damaging	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Ugt1a10	TTCA	T	1: 88,143,880 (GRCm39)		probably benign	Het
Usp47	T	C	7: 111,703,548 (GRCm39)		probably benign	Het
Uvssa	C	T	5: 33,549,428 (GRCm39)	A363V	probably benign	Het
Vldlr	T	A	19: 27,212,269 (GRCm39)	D94E	probably benign	Het
Vmn1r3	C	T	4: 3,184,691 (GRCm39)	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774 (GRCm39)	V178I	probably benign	Het
Vmn1r67	T	A	7: 10,180,877 (GRCm39)	M47K	probably benign	Het
Vmn1r87	A	T	7: 12,866,112 (GRCm39)	H58Q	probably benign	Het
Vmn1r89	A	G	7: 12,953,515 (GRCm39)	T84A	probably benign	Het
Vmn2r109	T	C	17: 20,774,839 (GRCm39)		probably null	Het
Xirp2	T	C	2: 67,349,706 (GRCm39)		probably benign	Het
Zbtb2	A	G	10: 4,319,493 (GRCm39)	S178P	probably benign	Het
Zfp534	C	A	4: 147,762,770 (GRCm39)	D21Y	probably benign	Het
Zfp534	C	T	4: 147,760,031 (GRCm39)	E213K	probably benign	Het
Zfp804b	C	T	5: 6,819,422 (GRCm39)	V1214I	probably damaging	Het
Zfp82	G	T	7: 29,756,701 (GRCm39)	T63K	probably damaging	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het
Zfp992	C	T	4: 146,550,569 (GRCm39)	P97S	probably benign	Het

Other mutations in Trp63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00935:Trp63	APN	16	25,689,826 (GRCm39)	missense	probably damaging	1.00
IGL01402:Trp63	APN	16	25,639,135 (GRCm39)	splice site	probably benign
IGL01404:Trp63	APN	16	25,639,135 (GRCm39)	splice site	probably benign
IGL01874:Trp63	APN	16	25,701,335 (GRCm39)	missense	possibly damaging	0.88
IGL01887:Trp63	APN	16	25,684,069 (GRCm39)	missense	probably damaging	1.00
IGL02008:Trp63	APN	16	25,681,211 (GRCm39)	missense	probably damaging	1.00
IGL02336:Trp63	APN	16	25,639,192 (GRCm39)	missense	probably damaging	1.00
IGL02470:Trp63	APN	16	25,639,134 (GRCm39)	splice site	probably benign
IGL02720:Trp63	APN	16	25,682,491 (GRCm39)	missense	probably damaging	0.96
IGL03230:Trp63	APN	16	25,707,760 (GRCm39)	missense	probably damaging	1.00
R0086:Trp63	UTSW	16	25,689,837 (GRCm39)	missense	probably damaging	1.00
R0281:Trp63	UTSW	16	25,583,052 (GRCm39)	splice site	probably benign
R1448:Trp63	UTSW	16	25,707,870 (GRCm39)	missense	possibly damaging	0.67
R1517:Trp63	UTSW	16	25,708,003 (GRCm39)	missense	probably damaging	1.00
R1539:Trp63	UTSW	16	25,703,599 (GRCm39)	missense	probably benign	0.02
R3922:Trp63	UTSW	16	25,707,759 (GRCm39)	missense	probably damaging	1.00
R3977:Trp63	UTSW	16	25,639,490 (GRCm39)	intron	probably benign
R3978:Trp63	UTSW	16	25,639,490 (GRCm39)	intron	probably benign
R3979:Trp63	UTSW	16	25,639,490 (GRCm39)	intron	probably benign
R4689:Trp63	UTSW	16	25,684,012 (GRCm39)	missense	possibly damaging	0.90
R4870:Trp63	UTSW	16	25,684,968 (GRCm39)	makesense	probably null
R5009:Trp63	UTSW	16	25,686,977 (GRCm39)	missense	probably damaging	0.99
R5033:Trp63	UTSW	16	25,582,056 (GRCm39)	missense	probably damaging	0.99
R5058:Trp63	UTSW	16	25,701,344 (GRCm39)	missense	probably damaging	1.00
R5118:Trp63	UTSW	16	25,707,760 (GRCm39)	missense	unknown
R5354:Trp63	UTSW	16	25,503,105 (GRCm39)	splice site	probably null
R5363:Trp63	UTSW	16	25,682,468 (GRCm39)	missense	probably damaging	0.99
R5668:Trp63	UTSW	16	25,684,935 (GRCm39)	missense	possibly damaging	0.52
R6004:Trp63	UTSW	16	25,582,146 (GRCm39)	critical splice donor site	probably null
R6029:Trp63	UTSW	16	25,686,964 (GRCm39)	missense	probably damaging	1.00
R6170:Trp63	UTSW	16	25,703,603 (GRCm39)	missense	probably benign	0.28
R6186:Trp63	UTSW	16	25,695,483 (GRCm39)	intron	probably benign
R6266:Trp63	UTSW	16	25,681,210 (GRCm39)	missense	probably damaging	0.99
R6466:Trp63	UTSW	16	25,582,108 (GRCm39)	missense	probably damaging	1.00
R6486:Trp63	UTSW	16	25,684,090 (GRCm39)	missense	probably damaging	0.99
R6913:Trp63	UTSW	16	25,707,918 (GRCm39)	missense	probably damaging	1.00
R6980:Trp63	UTSW	16	25,620,843 (GRCm39)	missense	probably benign
R7097:Trp63	UTSW	16	25,639,227 (GRCm39)	missense	probably damaging	1.00
R7122:Trp63	UTSW	16	25,639,227 (GRCm39)	missense	probably damaging	1.00
R7544:Trp63	UTSW	16	25,620,837 (GRCm39)	missense	probably benign
R7690:Trp63	UTSW	16	25,695,483 (GRCm39)	missense	unknown
R7743:Trp63	UTSW	16	25,701,375 (GRCm39)	missense	probably benign	0.05
R7766:Trp63	UTSW	16	25,686,969 (GRCm39)	missense	probably damaging	0.97
R7792:Trp63	UTSW	16	25,686,974 (GRCm39)	missense	possibly damaging	0.94
R7816:Trp63	UTSW	16	25,707,990 (GRCm39)	missense	probably damaging	1.00
R7978:Trp63	UTSW	16	25,639,436 (GRCm39)	missense	unknown
R8324:Trp63	UTSW	16	25,695,484 (GRCm39)	missense	unknown
R8857:Trp63	UTSW	16	25,639,226 (GRCm39)	missense	probably damaging	1.00
R9041:Trp63	UTSW	16	25,582,083 (GRCm39)	missense	probably benign
R9123:Trp63	UTSW	16	25,639,247 (GRCm39)	missense	probably damaging	1.00
R9491:Trp63	UTSW	16	25,695,472 (GRCm39)	missense	unknown
R9642:Trp63	UTSW	16	25,682,508 (GRCm39)	missense	probably benign	0.35
Z1088:Trp63	UTSW	16	25,582,063 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AAGACTGTGAGAGCTCTCCAGG -3'
(R):5'- CTTTCTAAAGGCAAAGGCAGTG -3'

Sequencing Primer
(F):5'- AGAGCTCTCCAGGGGATTTTAC -3'
(R):5'- ACTGCCACTTACTCTCTGG -3'

Posted On

2017-09-21