Mutagenetix > Incidental Mutation

Incidental Mutation 'R1531:Trp73'

166185

Institutional Source

Beutler Lab

Gene Symbol

Trp73

Ensembl Gene

ENSMUSG00000029026

Gene Name

transformation related protein 73

Synonyms

deltaNp73, p73, TAp73

MMRRC Submission

039570-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

R1531 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154056253-154140208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154063895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 354 (F354S)

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: F306S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095368
Gene: ENSMUSG00000029026
AA Change: F306S

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: F306S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134196
Gene: ENSMUSG00000029026
AA Change: F306S

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: F306S

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101268
Gene: ENSMUSG00000029026
AA Change: F306S

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: F354S

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101269
Gene: ENSMUSG00000029026
AA Change: F354S

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: F306S

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114418
Gene: ENSMUSG00000029026
AA Change: F306S

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	A	G	10: 43,525,320	V211A	probably benign	Het
Agtpbp1	T	A	13: 59,500,634		probably null	Het
Aldh3b2	T	G	19: 3,977,543	F28C	probably damaging	Het
Apaf1	T	C	10: 91,054,521	N540S	probably damaging	Het
Apob	T	C	12: 7,997,880	I953T	possibly damaging	Het
Arhgef1	A	G	7: 24,924,998	T816A	probably damaging	Het
Arid4a	T	A	12: 71,076,005	F1053L	probably benign	Het
Atxn1l	A	C	8: 109,732,059	F524V	probably damaging	Het
Cad	T	A	5: 31,076,219	M1874K	probably benign	Het
Ccdc40	G	A	11: 119,263,189	V1096I	probably benign	Het
Ccdc93	A	G	1: 121,480,822	D358G	probably benign	Het
Cd96	T	C	16: 46,117,806	T99A	probably benign	Het
Cdc42ep3	A	T	17: 79,335,044	M149K	probably benign	Het
Cog4	A	G	8: 110,879,721	E613G	probably benign	Het
Crebbp	A	T	16: 4,084,517	I2286N	probably benign	Het
Csf1	T	C	3: 107,748,338	E459G	possibly damaging	Het
Csrp2	A	T	10: 110,935,205	Y57F	probably benign	Het
Ctdspl	C	T	9: 119,040,582	P244L	probably damaging	Het
Cyp2c29	A	G	19: 39,324,968	R303G	probably damaging	Het
Cyp4a10	C	A	4: 115,518,435	Y38*	probably null	Het
Dmgdh	T	A	13: 93,744,411	I783N	probably damaging	Het
Efcc1	G	A	6: 87,731,166	E92K	probably benign	Het
Eif2ak4	T	A	2: 118,443,210	L872H	probably damaging	Het
Elp2	T	A	18: 24,631,404	S603T	probably benign	Het
Eml2	T	A	7: 19,196,254	L300H	probably damaging	Het
Esp3	A	G	17: 40,635,936	K50R	possibly damaging	Het
Esrp1	A	G	4: 11,379,375	F136L	probably damaging	Het
Exoc1	T	A	5: 76,559,164	D497E	probably damaging	Het
Fat3	A	G	9: 15,997,465	S2414P	probably damaging	Het
Foxj3	C	T	4: 119,620,201	P369S	unknown	Het
Gkn2	G	T	6: 87,375,939		probably null	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Gm21905	A	T	5: 67,946,381		probably benign	Het
Grhl1	T	A	12: 24,582,963		probably null	Het
Grk6	A	G	13: 55,452,154	Y221C	probably damaging	Het
Hcrtr1	T	A	4: 130,130,927	K389*	probably null	Het
Hk1	G	A	10: 62,284,784	R545C	probably damaging	Het
Hsp90b1	A	T	10: 86,696,795	I339N	probably benign	Het
Ikzf3	T	C	11: 98,490,446	R103G	probably damaging	Het
Itgad	A	C	7: 128,178,370	I141L	probably benign	Het
Jmjd6	T	A	11: 116,842,440	Y137F	probably benign	Het
Kcna1	A	G	6: 126,642,067	V430A	probably benign	Het
Kel	A	G	6: 41,688,626	V520A	probably damaging	Het
Klhl41	G	A	2: 69,670,740	V182I	probably benign	Het
Ldhb	C	A	6: 142,501,395	M64I	probably benign	Het
Lrrc23	A	G	6: 124,776,114	S190P	possibly damaging	Het
Mb21d1	A	G	9: 78,442,481	Y200H	probably damaging	Het
Mboat2	T	C	12: 24,959,030	V445A	probably benign	Het
Mlycd	G	A	8: 119,401,519	W188*	probably null	Het
Mpp3	C	T	11: 102,008,649	E349K	probably benign	Het
Myh4	A	G	11: 67,250,540	M780V	probably benign	Het
Myh6	G	A	14: 54,956,506	R809C	probably damaging	Het
Mylip	G	A	13: 45,406,570	V161M	possibly damaging	Het
Nrp1	G	A	8: 128,425,969	V220I	probably null	Het
Nup210	A	T	6: 91,034,841	N455K	probably benign	Het
Olfr116	A	T	17: 37,624,352	Y94*	probably null	Het
Olfr583	C	A	7: 103,051,588	Q97K	probably benign	Het
Pbld2	G	T	10: 63,053,953		probably null	Het
Pclo	C	G	5: 14,521,903	P434R	probably damaging	Het
Pdlim3	A	G	8: 45,896,763	K37E	probably damaging	Het
Prkdc	T	A	16: 15,772,106	I2611N	probably benign	Het
Prr12	T	C	7: 45,028,530	D2019G	unknown	Het
Rab27a	A	G	9: 73,095,403	T205A	probably benign	Het
Rcan3	A	G	4: 135,425,284	L42P	probably damaging	Het
Rchy1	T	C	5: 91,955,615		probably null	Het
Sema6a	T	C	18: 47,248,999	H827R	probably damaging	Het
Sertad4	A	G	1: 192,850,950		probably null	Het
Smarcd1	T	A	15: 99,707,383	C282S	probably damaging	Het
Speg	A	G	1: 75,401,222	T769A	possibly damaging	Het
Syne1	T	A	10: 5,347,875	K1141*	probably null	Het
Synpo2	T	C	3: 123,117,666	E110G	probably benign	Het
Tg	T	A	15: 66,850,502	D333E	probably benign	Het
Tmem132c	A	G	5: 127,359,891	Y148C	probably damaging	Het
Tmem215	T	A	4: 40,473,965	V14E	probably damaging	Het
Tmem229b	A	G	12: 78,964,911	L82P	probably damaging	Het
Togaram1	A	G	12: 64,966,265	T97A	probably benign	Het
Trappc9	G	A	15: 72,693,548	R965*	probably null	Het
Trio	T	C	15: 27,832,985	I104V	probably benign	Het
Ttyh2	T	C	11: 114,686,452	L63P	probably damaging	Het
Ulk4	G	C	9: 121,044,775	P1197A	probably damaging	Het
Vmn1r176	T	C	7: 23,835,111	M206V	possibly damaging	Het
Vps8	T	A	16: 21,466,476	Y402*	probably null	Het
Zbtb41	A	G	1: 139,423,193	I15V	probably benign	Het
Zc3hav1	T	C	6: 38,307,235	I982V	possibly damaging	Het
Zmynd19	T	A	2: 24,958,111	N106K	probably benign	Het

Other mutations in Trp73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Trp73	APN	4	154081486	missense	possibly damaging	0.82
IGL02264:Trp73	APN	4	154064428	missense	probably null	0.98
IGL02344:Trp73	APN	4	154062043	missense	possibly damaging	0.92
IGL02663:Trp73	APN	4	154062506	splice site	probably null
IGL02956:Trp73	APN	4	154064463	splice site	probably benign
IGL03093:Trp73	APN	4	154104873	missense	probably benign	0.00
slowpoke	UTSW	4	154064632	splice site	probably null
R0238:Trp73	UTSW	4	154062524	unclassified	probably benign
R0238:Trp73	UTSW	4	154062524	unclassified	probably benign
R0363:Trp73	UTSW	4	154063949	missense	probably benign	0.17
R0409:Trp73	UTSW	4	154064384	missense	possibly damaging	0.81
R1161:Trp73	UTSW	4	154081323	splice site	probably null
R2002:Trp73	UTSW	4	154081445	missense	probably damaging	1.00
R2185:Trp73	UTSW	4	154104817	critical splice donor site	probably null
R3965:Trp73	UTSW	4	154062036	missense	probably benign	0.03
R3966:Trp73	UTSW	4	154062036	missense	probably benign	0.03
R4247:Trp73	UTSW	4	154064632	splice site	probably null
R4595:Trp73	UTSW	4	154064417	missense	probably damaging	0.99
R5170:Trp73	UTSW	4	154104838	missense	possibly damaging	0.95
R5260:Trp73	UTSW	4	154062602	missense	possibly damaging	0.48
R5622:Trp73	UTSW	4	154060592	missense	possibly damaging	0.68
R6173:Trp73	UTSW	4	154104341	missense	probably damaging	1.00
R6252:Trp73	UTSW	4	154064397	missense	probably damaging	1.00
R6950:Trp73	UTSW	4	154062053	missense	probably benign	0.18
R7043:Trp73	UTSW	4	154067007	splice site	probably null
R7050:Trp73	UTSW	4	154081442	missense	probably damaging	1.00
R7052:Trp73	UTSW	4	154064683	missense	probably damaging	0.98
R7620:Trp73	UTSW	4	154059257	nonsense	probably null
R8086:Trp73	UTSW	4	154116595	missense	unknown
R9034:Trp73	UTSW	4	154067631	missense	probably benign	0.00
R9647:Trp73	UTSW	4	154081331	missense	probably damaging	1.00
R9671:Trp73	UTSW	4	154063946	missense	probably benign	0.03
R9746:Trp73	UTSW	4	154081402	missense	probably damaging	0.99
Z1176:Trp73	UTSW	4	154067012	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-04-13