Mutagenetix > Incidental Mutation

Incidental Mutation 'R7792:Trp63'

599987

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

MMRRC Submission

045848-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R7792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25502513-25710838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25686974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 396 (P396Q)

Ref Sequence

ENSEMBL: ENSMUSP00000110965 (fasta)

Gene Model

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

AlphaFold

O88898

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040231
AA Change: P302Q

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038117
Gene: ENSMUSG00000022510
AA Change: P302Q

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

possibly damaging
Transcript: ENSMUST00000065523
AA Change: P396Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067005
Gene: ENSMUSG00000022510
AA Change: P396Q

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 damaging
Transcript: ENSMUST00000115305
AA Change: P302Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110960
Gene: ENSMUSG00000022510
AA Change: P302Q

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

possibly damaging
Transcript: ENSMUST00000115306
AA Change: P298Q

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110961
Gene: ENSMUSG00000022510
AA Change: P298Q

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

possibly damaging
Transcript: ENSMUST00000115308
AA Change: P392Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110963
Gene: ENSMUSG00000022510
AA Change: P392Q

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

possibly damaging
Transcript: ENSMUST00000115310
AA Change: P396Q

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110965
Gene: ENSMUSG00000022510
AA Change: P396Q

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

0.1324

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (97/97)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	T	8: 111,769,896 (GRCm39)	V332F	possibly damaging	Het
Abhd15	T	A	11: 77,409,560 (GRCm39)	S425T	probably benign	Het
Acads	A	T	5: 115,250,840 (GRCm39)	F152L	probably damaging	Het
Acp3	T	A	9: 104,204,165 (GRCm39)	H43L	probably damaging	Het
Adora2a	A	G	10: 75,169,480 (GRCm39)	S315G	probably benign	Het
Agxt2	A	T	15: 10,381,472 (GRCm39)	D242V	probably damaging	Het
Alx4	A	G	2: 93,473,056 (GRCm39)	D18G	probably damaging	Het
Ankrd11	A	G	8: 123,610,970 (GRCm39)	S2639P	probably damaging	Het
Arhgap35	A	T	7: 16,295,453 (GRCm39)	V1204D	possibly damaging	Het
Arid2	A	G	15: 96,267,256 (GRCm39)	T579A	probably benign	Het
B4galt1	C	T	4: 40,809,373 (GRCm39)	G332S	probably benign	Het
B4galt4	C	A	16: 38,578,172 (GRCm39)	Y206*	probably null	Het
Bcl2l14	A	T	6: 134,409,277 (GRCm39)	T284S	possibly damaging	Het
Bop1	C	T	15: 76,338,548 (GRCm39)	V465M	probably damaging	Het
Cacna1b	A	T	2: 24,567,977 (GRCm39)	L1037H	probably damaging	Het
Cadm2	G	A	16: 66,568,523 (GRCm39)	T254M	probably benign	Het
Ccdc180	T	C	4: 45,890,389 (GRCm39)		probably null	Het
Ccdc7a	A	T	8: 129,618,918 (GRCm39)	D875E	possibly damaging	Het
Cenpu	A	G	8: 47,015,502 (GRCm39)	D139G	possibly damaging	Het
Cep57l1	A	T	10: 41,598,936 (GRCm39)	C292*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chst14	A	G	2: 118,758,256 (GRCm39)	H350R	probably benign	Het
Clca3a1	T	A	3: 144,455,492 (GRCm39)	I434F	possibly damaging	Het
Crispld2	A	G	8: 120,757,809 (GRCm39)	T385A	probably benign	Het
Crmp1	A	C	5: 37,441,439 (GRCm39)	N507T	probably damaging	Het
Cyp4f40	T	A	17: 32,890,143 (GRCm39)	I271N	probably damaging	Het
D630003M21Rik	G	T	2: 158,052,082 (GRCm39)	Q670K	possibly damaging	Het
Ddx42	T	C	11: 106,127,822 (GRCm39)	I342T	probably damaging	Het
Dnah9	T	A	11: 65,740,839 (GRCm39)	I4116F	probably damaging	Het
Ehd2	T	C	7: 15,684,683 (GRCm39)	H372R	probably benign	Het
Gja8	C	A	3: 96,827,092 (GRCm39)	C190F	probably damaging	Het
Gm8297	A	T	14: 16,165,939 (GRCm39)	D72V	possibly damaging	Het
Golgb1	A	G	16: 36,739,092 (GRCm39)	D2518G	probably benign	Het
Hsd17b12	C	A	2: 93,863,986 (GRCm39)	M285I	probably benign	Het
Hus1	T	C	11: 8,950,133 (GRCm39)	E196G	probably damaging	Het
Ift70a2	T	C	2: 75,807,273 (GRCm39)	N413S	probably benign	Het
Irf2	G	A	8: 47,260,314 (GRCm39)	R82Q	probably damaging	Het
Irx2	A	G	13: 72,779,493 (GRCm39)	D259G	possibly damaging	Het
Jph1	T	A	1: 17,074,602 (GRCm39)	Q472L	probably benign	Het
Kif2a	T	C	13: 107,124,490 (GRCm39)	Q142R	probably benign	Het
Lonp1	T	C	17: 56,929,515 (GRCm39)	Y174C	probably damaging	Het
Mapk14	T	C	17: 28,965,271 (GRCm39)	F348L	probably damaging	Het
Marchf10	G	T	11: 105,281,054 (GRCm39)	D410E	probably benign	Het
Mff	A	T	1: 82,724,802 (GRCm39)		probably null	Het
Mtrex	A	T	13: 113,009,443 (GRCm39)	D985E	probably benign	Het
Necab3	G	A	2: 154,388,200 (GRCm39)	R271C	probably damaging	Het
Nlrp4e	T	A	7: 23,021,182 (GRCm39)	F556L	possibly damaging	Het
Nt5c2	T	C	19: 46,878,385 (GRCm39)	K425E	probably benign	Het
Ofcc1	A	T	13: 40,296,302 (GRCm39)	W511R	probably damaging	Het
Or1j18	A	C	2: 36,624,342 (GRCm39)	E3A	probably benign	Het
Or2v1	T	A	11: 49,025,496 (GRCm39)	I159N	possibly damaging	Het
Or4k77	T	C	2: 111,199,748 (GRCm39)	I257T	probably benign	Het
Or52p2	T	A	7: 102,238,090 (GRCm39)		probably benign	Het
P2rx2	G	C	5: 110,488,210 (GRCm39)	A448G	possibly damaging	Het
Pcnx2	A	T	8: 126,618,757 (GRCm39)	N56K	possibly damaging	Het
Pdzd7	A	C	19: 45,028,657 (GRCm39)	M162R	possibly damaging	Het
Phyhd1	A	G	2: 30,156,782 (GRCm39)	M1V	probably null	Het
Plaat3	T	C	19: 7,556,660 (GRCm39)	C154R	probably benign	Het
Plekha5	A	G	6: 140,534,950 (GRCm39)	E1126G	possibly damaging	Het
Plekhm1	A	T	11: 103,287,886 (GRCm39)	V87D	probably damaging	Het
Pole	G	A	5: 110,445,332 (GRCm39)		probably null	Het
Pramel22	A	G	4: 143,381,123 (GRCm39)	L300P	probably benign	Het
R3hcc1	T	C	14: 69,942,957 (GRCm39)	M207V	probably benign	Het
R3hcc1l	T	A	19: 42,552,403 (GRCm39)	S467T	probably damaging	Het
Rasgrp4	G	T	7: 28,842,527 (GRCm39)	R267L	probably damaging	Het
Rbm20	T	C	19: 53,838,567 (GRCm39)	I848T	probably benign	Het
Rims2	T	C	15: 39,061,923 (GRCm39)	S56P	possibly damaging	Het
Rmc1	G	A	18: 12,314,656 (GRCm39)	D289N	probably damaging	Het
Sacs	T	A	14: 61,447,222 (GRCm39)	D3089E	probably benign	Het
Sall2	C	T	14: 52,553,521 (GRCm39)	G16R	probably damaging	Het
Scgb1b19	G	A	7: 32,987,912 (GRCm39)	C93Y	probably damaging	Het
Scn3a	T	A	2: 65,297,334 (GRCm39)	K1442*	probably null	Het
Sepsecs	A	G	5: 52,801,391 (GRCm39)	S424P	probably damaging	Het
Set	G	T	2: 29,960,323 (GRCm39)	V219F	probably benign	Het
Sh3tc1	A	T	5: 35,868,295 (GRCm39)	F390I	probably damaging	Het
Simc1	G	A	13: 54,695,143 (GRCm39)	V1269M	probably damaging	Het
Ska3	T	G	14: 58,047,512 (GRCm39)	D341A	probably damaging	Het
Slc16a10	A	T	10: 39,913,411 (GRCm39)		probably null	Het
Srgap1	T	A	10: 121,761,872 (GRCm39)	N92I	probably damaging	Het
Sspo	T	C	6: 48,431,624 (GRCm39)	V639A	probably damaging	Het
Stk11	A	T	10: 79,961,271 (GRCm39)		probably benign	Het
Sult5a1	G	A	8: 123,872,180 (GRCm39)	H221Y	probably benign	Het
Sytl3	T	A	17: 7,003,977 (GRCm39)	M559K	probably benign	Het
Tab2	A	C	10: 7,794,897 (GRCm39)	D528E	possibly damaging	Het
Tbc1d15	A	G	10: 115,057,492 (GRCm39)	I218T	possibly damaging	Het
Tenm4	T	A	7: 96,423,221 (GRCm39)	M672K	possibly damaging	Het
Tent4b	A	T	8: 88,979,182 (GRCm39)	Q561L	probably benign	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Thsd1	G	T	8: 22,733,114 (GRCm39)	G54W	probably damaging	Het
Tmprss15	A	T	16: 78,800,275 (GRCm39)	L618I	probably damaging	Het
Top3a	T	C	11: 60,633,790 (GRCm39)	S769G	probably benign	Het
Uggt1	T	C	1: 36,247,065 (GRCm39)	S311G	probably damaging	Het
Usp10	G	A	8: 120,678,740 (GRCm39)	E574K	possibly damaging	Het
Wfdc6b	T	A	2: 164,459,822 (GRCm39)	I148K	probably damaging	Het
Zcchc2	T	G	1: 105,945,982 (GRCm39)	I474R	probably damaging	Het
Zdhhc2	A	G	8: 40,900,182 (GRCm39)	K82R	probably benign	Het
Zfp273	A	G	13: 67,974,135 (GRCm39)	D421G	possibly damaging	Het
Zfp280d	T	C	9: 72,238,601 (GRCm39)	I639T	probably damaging	Het
Zfp429	A	T	13: 67,538,558 (GRCm39)	C295*	probably null	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
PIT4142001:Trp63	UTSW	16	25,684,013 (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
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'- TTCATCTCCCAGGTTGCTAGG -3'
(R):5'- TCCTAAATTCCAAAGTATTAGCGGG -3'

Sequencing Primer
(F):5'- AGGCTGTTTGTATTTAGTATGTACCC -3'
(R):5'- TTTCAGAAGAGGGCCCTCATCAG -3'

Posted On

2019-11-26