Mutagenetix > Incidental Mutation

Incidental Mutation 'R0363:Trp73'

30176

Institutional Source

Beutler Lab

Gene Symbol

Trp73

Ensembl Gene

ENSMUSG00000029026

Gene Name

transformation related protein 73

Synonyms

deltaNp73, TAp73, p73

MMRRC Submission

038569-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R0363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154140706-154224332 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154148406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 336 (I336T)

Ref Sequence

ENSEMBL: ENSMUSP00000101269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097762] [ENSMUST00000097763] [ENSMUST00000105643] [ENSMUST00000105644] [ENSMUST00000133533] [ENSMUST00000139634] [ENSMUST00000155642]

AlphaFold

Q9JJP2

Predicted Effect

probably benign
Transcript: ENSMUST00000097762
AA Change: I288T

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095368
Gene: ENSMUSG00000029026
AA Change: I288T

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
AA Change: I288T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134196
Gene: ENSMUSG00000029026
AA Change: I288T

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
AA Change: I288T

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101268
Gene: ENSMUSG00000029026
AA Change: I288T

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
AA Change: I336T

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101269
Gene: ENSMUSG00000029026
AA Change: I336T

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
AA Change: I288T

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114418
Gene: ENSMUSG00000029026
AA Change: I288T

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: ENSMUST00000139634

SMART Domains

Protein: ENSMUSP00000114736
Gene: ENSMUSG00000029026

Domain	Start	End	E-Value	Type
low complexity region	9	27	N/A	INTRINSIC
Pfam:P53	152	204	3.1e-25	PFAM

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,381,520 (GRCm39)	Q86L	probably null	Het
Abhd2	A	G	7: 79,000,561 (GRCm39)	D262G	possibly damaging	Het
Abhd5	T	C	9: 122,197,211 (GRCm39)	F133L	possibly damaging	Het
Agap2	T	A	10: 126,926,834 (GRCm39)	V957E	probably damaging	Het
Ankrd12	T	C	17: 66,292,676 (GRCm39)	K919R	probably damaging	Het
Ap1m1	T	C	8: 73,006,738 (GRCm39)	S245P	probably benign	Het
Ap1m1	T	C	8: 73,010,568 (GRCm39)		probably benign	Het
Apcdd1	A	G	18: 63,070,168 (GRCm39)	Y145C	possibly damaging	Het
Apob	A	T	12: 8,060,136 (GRCm39)	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,981,027 (GRCm39)	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,885,944 (GRCm39)	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,533,400 (GRCm39)	I48N	probably damaging	Het
Chd6	A	G	2: 160,856,244 (GRCm39)	S672P	probably damaging	Het
Ciz1	G	C	2: 32,267,375 (GRCm39)		probably null	Het
Cmbl	G	A	15: 31,585,588 (GRCm39)		probably null	Het
Cmya5	A	G	13: 93,231,377 (GRCm39)	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 113,583,143 (GRCm39)	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,202,193 (GRCm39)	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cuzd1	A	T	7: 130,917,991 (GRCm39)	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,392,689 (GRCm39)		probably benign	Het
Dlgap3	A	G	4: 127,129,314 (GRCm39)	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,275,948 (GRCm39)	S2612P	probably damaging	Het
Epas1	T	G	17: 87,113,276 (GRCm39)		probably benign	Het
Etv5	G	A	16: 22,230,458 (GRCm39)	A192V	probably benign	Het
Fa2h	T	A	8: 112,075,921 (GRCm39)	H234L	probably damaging	Het
Fcho1	T	C	8: 72,170,134 (GRCm39)	Y47C	probably damaging	Het
Flvcr1	T	A	1: 190,744,451 (GRCm39)		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	T	C	8: 82,610,886 (GRCm39)		probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kmt2a	A	G	9: 44,721,010 (GRCm39)		probably null	Het
Krt4	G	A	15: 101,833,081 (GRCm39)	R9C	possibly damaging	Het
Map1a	T	C	2: 121,132,525 (GRCm39)	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,250,190 (GRCm39)		probably null	Het
Msh2	C	T	17: 88,024,904 (GRCm39)	T594M	probably benign	Het
Mtmr3	A	G	11: 4,437,536 (GRCm39)	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,354,697 (GRCm39)	M889L	probably benign	Het
Ntn1	A	G	11: 68,276,369 (GRCm39)	I193T	probably benign	Het
Nudt13	A	T	14: 20,359,851 (GRCm39)	I193F	probably damaging	Het
Or2n1	A	G	17: 38,486,338 (GRCm39)	D121G	probably damaging	Het
Or3a1	C	T	11: 74,225,925 (GRCm39)	G44D	probably damaging	Het
Or4b1b	A	T	2: 90,112,200 (GRCm39)	S240T	probably damaging	Het
Or5p73	A	T	7: 108,064,941 (GRCm39)	T137S	possibly damaging	Het
Otulin	A	G	15: 27,606,381 (GRCm39)	V344A	probably damaging	Het
P2rx7	C	T	5: 122,795,093 (GRCm39)	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,652,213 (GRCm39)	R227H	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pltp	C	T	2: 164,682,056 (GRCm39)	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,177,836 (GRCm39)	A324P	probably damaging	Het
Pramel14	C	T	4: 143,718,221 (GRCm39)	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737 (GRCm39)	V251G	unknown	Het
Prkg1	T	C	19: 31,641,596 (GRCm39)	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,525,380 (GRCm39)	S409P	unknown	Het
Rp1	T	A	1: 4,417,941 (GRCm39)	D1057V	probably damaging	Het
Rttn	G	A	18: 89,029,079 (GRCm39)	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,416,153 (GRCm39)	R213Q	probably benign	Het
Slc3a1	T	C	17: 85,340,273 (GRCm39)	Y232H	probably damaging	Het
Slx4	G	A	16: 3,797,953 (GRCm39)	A1477V	probably damaging	Het
Ssrp1	T	G	2: 84,871,018 (GRCm39)	I218S	probably damaging	Het
St6galnac1	A	C	11: 116,659,756 (GRCm39)	S186A	probably benign	Het
Stab1	A	G	14: 30,880,965 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 177,988,204 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,118,981 (GRCm39)	I5867N	probably damaging	Het
Taar7f	T	A	10: 23,925,839 (GRCm39)	D144E	probably damaging	Het
Tlcd5	A	T	9: 43,023,048 (GRCm39)	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,673,153 (GRCm39)	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,768 (GRCm39)	T127A	probably benign	Het
Ttl	A	G	2: 128,917,981 (GRCm39)	I148V	probably damaging	Het
Ttll7	T	C	3: 146,649,970 (GRCm39)	Y667H	probably benign	Het
Ubr4	A	G	4: 139,119,171 (GRCm39)	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,413,636 (GRCm39)	V198E	probably damaging	Het
Vps52	T	A	17: 34,181,091 (GRCm39)	F376L	probably benign	Het
Zfp1007	T	C	5: 109,824,754 (GRCm39)	E232G	probably benign	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
R0238:Trp73	UTSW	4	154,146,981 (GRCm39)	unclassified	probably benign
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

PCR Primer
(F):5'- CAGGGCCACAGTTTCAATCCTCAG -3'
(R):5'- TCCAAAGGTGCCAAGCATAGCTTC -3'

Sequencing Primer
(F):5'- ACAGTTTCAATCCTCAGGTGTCAG -3'
(R):5'- GCTTCATCCAAAGATGGATCTGG -3'

Posted On

2013-04-24