Mutagenetix > Incidental Mutation

Incidental Mutation 'R0238:Trp73'

501782

Institutional Source

Beutler Lab

Gene Symbol

Trp73

Ensembl Gene

ENSMUSG00000029026

Gene Name

transformation related protein 73

Synonyms

deltaNp73, TAp73, p73

MMRRC Submission

038476-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.665) question?

Stock #

R0238 (G1)

Quality Score

129

Status

Not validated

Chromosome

Chromosomal Location

154140706-154224332 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

AGCTGCTGCTGCTGCTGCTG to AGCTGCTGCTGCTGCTG at 154146981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097762] [ENSMUST00000097763] [ENSMUST00000105643] [ENSMUST00000105644] [ENSMUST00000133533] [ENSMUST00000155642]

AlphaFold

Q9JJP2

Predicted Effect

probably benign
Transcript: ENSMUST00000097762

SMART Domains

Protein: ENSMUSP00000095368
Gene: ENSMUSG00000029026

Domain	Start	End	E-Value	Type
Pfam:P53	64	260	2.6e-111	PFAM
Pfam:P53_tetramer	296	337	8.5e-21	PFAM
low complexity region	342	350	N/A	INTRINSIC
Pfam:SAM_2	352	406	1.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097763

SMART Domains

Protein: ENSMUSP00000134196
Gene: ENSMUSG00000029026

Domain	Start	End	E-Value	Type
Pfam:P53	64	260	6.4e-112	PFAM
Pfam:P53_tetramer	296	337	2.3e-21	PFAM
low complexity region	341	362	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105643

SMART Domains

Protein: ENSMUSP00000101268
Gene: ENSMUSG00000029026

Domain	Start	End	E-Value	Type
Pfam:P53	64	260	2.1e-111	PFAM
Pfam:P53_tetramer	296	337	7.6e-21	PFAM
low complexity region	342	350	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105644

SMART Domains

Protein: ENSMUSP00000101269
Gene: ENSMUSG00000029026

Domain	Start	End	E-Value	Type
Pfam:P53	112	308	3.1e-115	PFAM
Pfam:P53_tetramer	344	383	8.3e-21	PFAM
low complexity region	390	398	N/A	INTRINSIC
SAM	486	552	2.71e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133533

SMART Domains

Protein: ENSMUSP00000114418
Gene: ENSMUSG00000029026

Domain	Start	End	E-Value	Type
Pfam:P53	64	260	3.8e-111	PFAM
Pfam:P53_tetramer	296	337	1.1e-20	PFAM
low complexity region	342	350	N/A	INTRINSIC
SAM	438	504	2.71e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155642

SMART Domains

Protein: ENSMUSP00000135281
Gene: ENSMUSG00000029026

Domain	Start	End	E-Value	Type
Pfam:P53	42	213	1.3e-94	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

98% (105/107)

MGI Phenotype

FUNCTION: This gene encodes tumor protein p73, which is a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include p53, p63, and p73 and have high sequence similarity to one another, which 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 involving direct or indirect protein interactions, resulting in regulation of the same target gene promoters or regulation of each other's promoters. The p73 protein is expressed at very low levels in normal tissues and is differentially expressed in a number of tumors. The p73 gene expresses at least 35 mRNA variants due to the use of alternate promoters, alternate translation initiation sites, and multiple splice variations. Theoretically this can account for 29 different p73 isoforms; however, the biological validity and the full-length nature of most variants have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display a variety of defects including hippocampal dysgenesis, hydrocephalus, chronic infections and inflammation, abnormal pheromone sensory pathways, eye abnormalities, impaired growth, and female infertility. [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
Aar2	T	G	2: 156,392,893 (GRCm39)	V94G	probably benign	Het
Acp5	A	T	9: 22,041,218 (GRCm39)	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,089,162 (GRCm39)	N525K	possibly damaging	Het
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Aknad1	A	G	3: 108,688,555 (GRCm39)	M628V	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Ccdc158	A	C	5: 92,809,977 (GRCm39)	M177R	probably benign	Het
Ccdc191	A	T	16: 43,767,859 (GRCm39)	R678*	probably null	Het
Cdkn2d	C	A	9: 21,202,288 (GRCm39)		probably benign	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap44	T	A	16: 44,242,681 (GRCm39)	M695K	probably benign	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chd9	T	C	8: 91,659,456 (GRCm39)	S139P	probably damaging	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Cnga1	A	G	5: 72,762,374 (GRCm39)	I380T	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,633 (GRCm39)	E53D	probably damaging	Het
Cul2	A	G	18: 3,414,115 (GRCm39)		probably benign	Het
Dclk3	A	T	9: 111,311,696 (GRCm39)	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Fam163b	T	C	2: 27,002,646 (GRCm39)	N117S	probably damaging	Het
Fam89a	A	G	8: 125,467,971 (GRCm39)	Y114H	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gnai1	A	G	5: 18,478,548 (GRCm39)	S206P	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Haus3	G	A	5: 34,323,600 (GRCm39)	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hpn	G	T	7: 30,798,815 (GRCm39)		probably benign	Het
Hspa9	A	T	18: 35,079,699 (GRCm39)	Y243*	probably null	Het
Htr3a	T	C	9: 48,817,686 (GRCm39)	T96A	probably benign	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Jph3	A	G	8: 122,480,459 (GRCm39)	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 166,946,889 (GRCm39)	V653A	probably benign	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Map3k21	A	G	8: 126,671,709 (GRCm39)	D999G	possibly damaging	Het
Marf1	T	C	16: 13,969,147 (GRCm39)	I109V	probably benign	Het
Mcam	T	G	9: 44,051,502 (GRCm39)		probably null	Het
Med18	T	C	4: 132,187,337 (GRCm39)	H99R	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Micu2	G	A	14: 58,154,835 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,314,060 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo1e	A	T	9: 70,249,408 (GRCm39)	I503F	possibly damaging	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Myorg	A	T	4: 41,498,912 (GRCm39)	N239K	probably benign	Het
Nbn	T	C	4: 15,986,672 (GRCm39)		probably benign	Het
Ndufa4	C	T	6: 11,906,023 (GRCm39)	V10I	probably benign	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,077,437 (GRCm39)	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,646,139 (GRCm39)	Q338*	probably null	Het
Nt5e	A	G	9: 88,249,385 (GRCm39)	S440G	possibly damaging	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,399,511 (GRCm39)	K51R	probably benign	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pcdhb12	A	G	18: 37,569,780 (GRCm39)	I309V	probably benign	Het
Pck1	T	G	2: 172,998,861 (GRCm39)	I373S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Rab39	G	A	9: 53,617,330 (GRCm39)	T29I	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Rars2	A	C	4: 34,656,030 (GRCm39)	Q421P	probably benign	Het
Rars2	T	C	4: 34,645,838 (GRCm39)	Y252H	probably damaging	Het
Rasa2	A	T	9: 96,450,460 (GRCm39)	D479E	probably damaging	Het
Rbl2	A	T	8: 91,833,135 (GRCm39)	T689S	probably damaging	Het
Rims4	C	T	2: 163,705,945 (GRCm39)	V230M	probably benign	Het
Scgb1b27	G	A	7: 33,721,377 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Six3	G	A	17: 85,928,818 (GRCm39)	G51R	probably damaging	Het
Skp2	A	C	15: 9,127,971 (GRCm39)		probably null	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,641,272 (GRCm39)		probably null	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Susd5	A	G	9: 113,925,977 (GRCm39)	*620W	probably null	Het
Timm21	T	C	18: 84,965,791 (GRCm39)	N239S	probably damaging	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,772,065 (GRCm39)	D1118G	probably damaging	Het
Traf2	G	C	2: 25,427,138 (GRCm39)	A71G	possibly damaging	Het
Trim54	A	G	5: 31,291,463 (GRCm39)	M195V	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp329	G	T	7: 12,544,756 (GRCm39)	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,740,022 (GRCm39)	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,001,903 (GRCm39)	E773G	probably damaging	Het
Zfp866	T	C	8: 70,219,365 (GRCm39)	Y53C	probably damaging	Het

Other mutations in Trp73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Trp73	APN	4	154,165,943 (GRCm39)	missense	possibly damaging	0.82
IGL02264:Trp73	APN	4	154,148,885 (GRCm39)	missense	probably null	0.98
IGL02344:Trp73	APN	4	154,146,500 (GRCm39)	missense	possibly damaging	0.92
IGL02663:Trp73	APN	4	154,146,963 (GRCm39)	splice site	probably null
IGL02956:Trp73	APN	4	154,148,920 (GRCm39)	splice site	probably benign
IGL03093:Trp73	APN	4	154,189,330 (GRCm39)	missense	probably benign	0.00
slowpoke	UTSW	4	154,149,089 (GRCm39)	splice site	probably null
R0238:Trp73	UTSW	4	154,146,981 (GRCm39)	unclassified	probably benign
R0363:Trp73	UTSW	4	154,148,406 (GRCm39)	missense	probably benign	0.17
R0409:Trp73	UTSW	4	154,148,841 (GRCm39)	missense	possibly damaging	0.81
R1161:Trp73	UTSW	4	154,165,780 (GRCm39)	splice site	probably null
R1531:Trp73	UTSW	4	154,148,352 (GRCm39)	missense	probably benign	0.31
R2002:Trp73	UTSW	4	154,165,902 (GRCm39)	missense	probably damaging	1.00
R2185:Trp73	UTSW	4	154,189,274 (GRCm39)	critical splice donor site	probably null
R3965:Trp73	UTSW	4	154,146,493 (GRCm39)	missense	probably benign	0.03
R3966:Trp73	UTSW	4	154,146,493 (GRCm39)	missense	probably benign	0.03
R4247:Trp73	UTSW	4	154,149,089 (GRCm39)	splice site	probably null
R4595:Trp73	UTSW	4	154,148,874 (GRCm39)	missense	probably damaging	0.99
R5170:Trp73	UTSW	4	154,189,295 (GRCm39)	missense	possibly damaging	0.95
R5260:Trp73	UTSW	4	154,147,059 (GRCm39)	missense	possibly damaging	0.48
R5622:Trp73	UTSW	4	154,145,049 (GRCm39)	missense	possibly damaging	0.68
R6173:Trp73	UTSW	4	154,188,798 (GRCm39)	missense	probably damaging	1.00
R6252:Trp73	UTSW	4	154,148,854 (GRCm39)	missense	probably damaging	1.00
R6950:Trp73	UTSW	4	154,146,510 (GRCm39)	missense	probably benign	0.18
R7043:Trp73	UTSW	4	154,151,464 (GRCm39)	splice site	probably null
R7050:Trp73	UTSW	4	154,165,899 (GRCm39)	missense	probably damaging	1.00
R7052:Trp73	UTSW	4	154,149,140 (GRCm39)	missense	probably damaging	0.98
R7620:Trp73	UTSW	4	154,143,714 (GRCm39)	nonsense	probably null
R8086:Trp73	UTSW	4	154,201,052 (GRCm39)	missense	unknown
R9034:Trp73	UTSW	4	154,152,088 (GRCm39)	missense	probably benign	0.00
R9647:Trp73	UTSW	4	154,165,788 (GRCm39)	missense	probably damaging	1.00
R9671:Trp73	UTSW	4	154,148,403 (GRCm39)	missense	probably benign	0.03
R9746:Trp73	UTSW	4	154,165,859 (GRCm39)	missense	probably damaging	0.99
Z1176:Trp73	UTSW	4	154,151,469 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-12-01