Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Trp73'

401360

Institutional Source

Beutler Lab

Gene Symbol

Trp73

Ensembl Gene

ENSMUSG00000029026

Gene Name

transformation related protein 73

Synonyms

deltaNp73, TAp73, p73

MMRRC Submission

042829-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R5260 (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 154147059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 322 (V322A)

Ref Sequence

ENSEMBL: ENSMUSP00000134196 (fasta)

Gene Model

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

AlphaFold

Q9JJP2

Predicted Effect

probably benign
Transcript: ENSMUST00000097762
AA Change: V322A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095368
Gene: ENSMUSG00000029026
AA Change: V322A

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

possibly damaging
Transcript: ENSMUST00000097763
AA Change: V322A

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134196
Gene: ENSMUSG00000029026
AA Change: V322A

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: V322A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101268
Gene: ENSMUSG00000029026
AA Change: V322A

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: V370A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101269
Gene: ENSMUSG00000029026
AA Change: V370A

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: V322A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114418
Gene: ENSMUSG00000029026
AA Change: V322A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,461,003 (GRCm39)	I14F	probably damaging	Het
Acin1	T	C	14: 54,880,279 (GRCm39)		probably benign	Het
Adamts9	C	A	6: 92,784,118 (GRCm39)	V1579L	probably benign	Het
Adra2a	T	A	19: 54,035,039 (GRCm39)	C132S	probably damaging	Het
Aif1	T	A	17: 35,390,917 (GRCm39)		probably null	Het
Atf5	A	T	7: 44,464,510 (GRCm39)	Y27*	probably null	Het
Atm	A	G	9: 53,417,911 (GRCm39)	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,235,210 (GRCm39)		probably benign	Het
Chaf1a	C	T	17: 56,372,000 (GRCm39)	H723Y	probably damaging	Het
Clint1	T	C	11: 45,798,769 (GRCm39)	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,565,230 (GRCm39)	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,389,301 (GRCm39)	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,760,017 (GRCm39)	G512S	probably damaging	Het
Dnah8	T	A	17: 30,919,393 (GRCm39)	V1122D	probably benign	Het
Doc2b	C	A	11: 75,676,989 (GRCm39)	G128V	probably damaging	Het
Dysf	T	C	6: 84,127,016 (GRCm39)	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,028,477 (GRCm39)	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,829,324 (GRCm39)	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,870,113 (GRCm39)	H933Q	probably damaging	Het
Erc1	A	T	6: 119,738,120 (GRCm39)	N574K	probably damaging	Het
Eri2	A	T	7: 119,387,069 (GRCm39)		probably benign	Het
Faxc	A	G	4: 21,948,744 (GRCm39)	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,585 (GRCm39)	Y354F	probably damaging	Het
Fras1	T	A	5: 96,883,046 (GRCm39)	I2526N	possibly damaging	Het
Gm5424	A	T	10: 61,907,374 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,701 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,503 (GRCm39)	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,942,062 (GRCm39)		probably benign	Het
Gusb	A	T	5: 130,028,829 (GRCm39)	Y220*	probably null	Het
Gvin3	A	G	7: 106,198,411 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,471,612 (GRCm39)	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,055,931 (GRCm39)	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058 (GRCm39)	L802P	probably damaging	Het
Kif5c	A	G	2: 49,625,602 (GRCm39)	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,740,741 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,456,823 (GRCm39)	G186C	possibly damaging	Het
Lca5	G	A	9: 83,305,276 (GRCm39)	R177C	probably damaging	Het
Mab21l4	A	T	1: 93,087,700 (GRCm39)	V51E	probably damaging	Het
Mier1	T	C	4: 103,019,907 (GRCm39)	S318P	probably benign	Het
Obscn	A	T	11: 58,894,195 (GRCm39)	I1207N	probably damaging	Het
Oog4	C	T	4: 143,164,424 (GRCm39)	G369D	probably benign	Het
Or4c126	A	G	2: 89,824,526 (GRCm39)	D263G	probably damaging	Het
Or4k52	A	G	2: 111,611,526 (GRCm39)	Y287C	probably damaging	Het
Or52d13	A	G	7: 103,109,822 (GRCm39)	F198L	probably benign	Het
Or5d35	A	C	2: 87,855,818 (GRCm39)	I251L	probably benign	Het
Plec	T	C	15: 76,060,824 (GRCm39)	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,884,593 (GRCm39)	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,190,149 (GRCm39)	S65C	probably damaging	Het
Psma3	T	C	12: 71,031,416 (GRCm39)		probably benign	Het
Ptpn18	T	A	1: 34,502,591 (GRCm39)		probably benign	Het
Ptprv	T	C	1: 135,039,998 (GRCm39)		noncoding transcript	Het
Rac1	C	A	5: 143,493,886 (GRCm39)	V104L	probably benign	Het
Serpinb7	A	T	1: 107,362,479 (GRCm39)	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,511,347 (GRCm39)		probably benign	Het
Srl	G	A	16: 4,300,759 (GRCm39)	R333*	probably null	Het
Srprb	A	T	9: 103,079,119 (GRCm39)	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,378,102 (GRCm39)	S269P	probably damaging	Het
Tdo2	C	T	3: 81,882,630 (GRCm39)		probably null	Het
Teddm1a	T	C	1: 153,767,646 (GRCm39)	Y37H	probably benign	Het
Tenm3	T	C	8: 48,689,890 (GRCm39)	Y1899C	probably damaging	Het
Tep1	T	C	14: 51,076,088 (GRCm39)	T1681A	probably benign	Het
Timm44	G	T	8: 4,325,919 (GRCm39)		probably null	Het
Tsr1	A	C	11: 74,796,781 (GRCm39)	E611A	probably damaging	Het
Unc80	A	G	1: 66,685,746 (GRCm39)	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,679,276 (GRCm39)	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt9b	C	A	11: 103,622,875 (GRCm39)	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,540,453 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,112,697 (GRCm39)	V279D	probably damaging	Het
Zfp932	C	T	5: 110,157,501 (GRCm39)	Q400*	probably null	Het
Zxdc	T	A	6: 90,359,075 (GRCm39)	L569Q	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
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
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'- CTGATCTTACAGTCCAGTCCAG -3'
(R):5'- AGAGTATCCTGAGCGTTGGG -3'

Sequencing Primer
(F):5'- TTACAGTCCAGTCCAGTCCAGG -3'
(R):5'- TTGGGGTACGGGGAAACTCC -3'

Posted On

2016-07-06