Mutagenetix > Incidental Mutation

Incidental Mutation 'R9746:Trp73'

732105

Institutional Source

Beutler Lab

Gene Symbol

Trp73

Ensembl Gene

ENSMUSG00000029026

Gene Name

transformation related protein 73

Synonyms

deltaNp73, TAp73, p73

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R9746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154140706-154224332 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 154165859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 118 (T118I)

Ref Sequence

ENSEMBL: ENSMUSP00000101269 (fasta)

Gene Model

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

AlphaFold

Q9JJP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097762
AA Change: T70I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095368
Gene: ENSMUSG00000029026
AA Change: T70I

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 damaging
Transcript: ENSMUST00000097763
AA Change: T70I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134196
Gene: ENSMUSG00000029026
AA Change: T70I

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 damaging
Transcript: ENSMUST00000105643
AA Change: T70I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101268
Gene: ENSMUSG00000029026
AA Change: T70I

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 damaging
Transcript: ENSMUST00000105644
AA Change: T118I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101269
Gene: ENSMUSG00000029026
AA Change: T118I

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 damaging
Transcript: ENSMUST00000133533
AA Change: T70I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114418
Gene: ENSMUSG00000029026
AA Change: T70I

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 damaging
Transcript: ENSMUST00000139634
AA Change: T158I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114736
Gene: ENSMUSG00000029026
AA Change: T158I

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 damaging
Transcript: ENSMUST00000155642
AA Change: T48I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135281
Gene: ENSMUSG00000029026
AA Change: T48I

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,598 (GRCm39)	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652 (GRCm39)	L153H	probably damaging	Het
Actn4	A	T	7: 28,618,431 (GRCm39)	D76E	probably benign	Het
Afdn	A	C	17: 14,066,782 (GRCm39)	M640L	probably benign	Het
Angpt1	A	T	15: 42,539,837 (GRCm39)	F7L	probably benign	Het
Ap3b2	A	G	7: 81,126,092 (GRCm39)	F373S	probably damaging	Het
Armc2	T	A	10: 41,800,457 (GRCm39)	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,630,197 (GRCm39)	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 55,021,895 (GRCm39)		probably null	Het
Capn8	G	A	1: 182,438,670 (GRCm39)		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,637,081 (GRCm39)	N3103D	probably benign	Het
Chd9	G	A	8: 91,738,063 (GRCm39)	R1565Q	unknown	Het
Cir1	G	A	2: 73,134,152 (GRCm39)	T139I	probably damaging	Het
Cmah	T	C	13: 24,619,673 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,450,800 (GRCm39)	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,801,793 (GRCm39)	T979S	probably benign	Het
Dnah11	T	A	12: 117,842,311 (GRCm39)	K4423*	probably null	Het
Dnajb4	A	G	3: 151,892,320 (GRCm39)	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,072,307 (GRCm39)		probably null	Het
Dtwd1	A	G	2: 125,996,595 (GRCm39)	T27A	probably benign	Het
Ep400	C	T	5: 110,889,872 (GRCm39)	D464N	unknown	Het
Epb42	A	T	2: 120,855,091 (GRCm39)	I498N	probably benign	Het
Fhod1	A	G	8: 106,064,048 (GRCm39)	V219A	unknown	Het
Gabrb2	A	T	11: 42,517,436 (GRCm39)	E419D	probably benign	Het
Galnt18	A	T	7: 111,071,168 (GRCm39)	N615K	possibly damaging	Het
Gm29106	T	A	1: 118,127,254 (GRCm39)	H315Q	possibly damaging	Het
Gprin2	G	T	14: 33,917,615 (GRCm39)	Q52K	probably benign	Het
Grm4	A	T	17: 27,657,765 (GRCm39)	Y414N	probably damaging	Het
Gulo	C	A	14: 66,225,630 (GRCm39)		probably null	Het
H2-M1	A	C	17: 36,980,997 (GRCm39)	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,852,951 (GRCm39)	W118R	probably damaging	Het
Hs6st3	G	A	14: 120,106,492 (GRCm39)	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,404,519 (GRCm39)	S547T	possibly damaging	Het
Kank1	G	T	19: 25,386,872 (GRCm39)	V182F	probably damaging	Het
Kif20b	T	A	19: 34,928,149 (GRCm39)	L1137*	probably null	Het
Klhl7	A	G	5: 24,331,818 (GRCm39)		probably null	Het
Krt13	T	A	11: 100,011,987 (GRCm39)	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,290,064 (GRCm39)	V71A	probably benign	Het
Ly6g	T	C	15: 75,030,458 (GRCm39)	V92A	probably benign	Het
Map2k3	G	A	11: 60,822,929 (GRCm39)		probably benign	Het
Mast2	A	C	4: 116,168,927 (GRCm39)	D842E	probably benign	Het
Mpo	T	G	11: 87,694,349 (GRCm39)	M693R	probably benign	Het
Myo15a	C	A	11: 60,378,234 (GRCm39)	S212*	probably null	Het
Nadk2	C	T	15: 9,106,824 (GRCm39)	R37*	probably null	Het
Ncapd3	G	A	9: 26,974,655 (GRCm39)	R709H	probably benign	Het
Nck2	T	A	1: 43,572,892 (GRCm39)	Y55*	probably null	Het
Neurl4	A	G	11: 69,798,301 (GRCm39)	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527 (GRCm39)	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,484,950 (GRCm39)	S148T	probably benign	Het
Nr1d1	T	C	11: 98,661,160 (GRCm39)	T369A	probably benign	Het
Nub1	T	G	5: 24,908,483 (GRCm39)	F411V	probably damaging	Het
Nup188	T	A	2: 30,194,300 (GRCm39)	Y158N	probably damaging	Het
Or2d36	A	T	7: 106,746,660 (GRCm39)	I46F	probably benign	Het
Or5e1	A	G	7: 108,354,639 (GRCm39)	N192S	probably benign	Het
Or5m8	A	G	2: 85,823,091 (GRCm39)	Y310C	probably benign	Het
Or6c6c	A	T	10: 129,541,208 (GRCm39)	I154F	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,928 (GRCm39)	I279K	unknown	Het
Orc2	C	T	1: 58,536,610 (GRCm39)	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,162,743 (GRCm39)	V182D	probably damaging	Het
Parvg	T	G	15: 84,210,424 (GRCm39)	C30W	probably benign	Het
Pcdha1	T	A	18: 37,065,713 (GRCm39)	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,800,242 (GRCm39)	Q635K	probably benign	Het
Pramel26	T	C	4: 143,536,886 (GRCm39)	T482A	probably benign	Het
Psg16	A	G	7: 16,832,086 (GRCm39)	I341V	probably benign	Het
Psme4	C	T	11: 30,826,868 (GRCm39)	Q1796*	probably null	Het
Ptn	T	G	6: 36,692,699 (GRCm39)		probably null	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rasal1	G	A	5: 120,800,358 (GRCm39)	G207D	probably damaging	Het
Rdx	A	G	9: 51,974,878 (GRCm39)	I5V	probably benign	Het
Rpf1	A	G	3: 146,223,533 (GRCm39)	I105T	probably damaging	Het
Rps15a	A	T	7: 117,709,220 (GRCm39)	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,233,641 (GRCm39)	P153L	probably benign	Het
Scaf11	G	A	15: 96,318,298 (GRCm39)	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,082,403 (GRCm39)	E287V	possibly damaging	Het
Sgta	T	C	10: 80,887,118 (GRCm39)	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,025,358 (GRCm39)	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,319,671 (GRCm39)	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,499,145 (GRCm39)	S151T	probably benign	Het
Slc4a8	C	A	15: 100,681,721 (GRCm39)	H111N	probably damaging	Het
Syngr1	G	A	15: 79,975,659 (GRCm39)	R22K	probably benign	Het
Tars2	A	T	3: 95,662,077 (GRCm39)	V25E	probably benign	Het
Tbx15	A	G	3: 99,259,647 (GRCm39)	Y506C	probably damaging	Het
Tgm4	A	T	9: 122,875,634 (GRCm39)	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,255,439 (GRCm39)	E83G	probably damaging	Het
Trpm7	A	G	2: 126,664,578 (GRCm39)	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,729 (GRCm39)	S330L	probably benign	Het
Tub	A	C	7: 108,624,845 (GRCm39)	D199A	probably benign	Het
Uri1	A	C	7: 37,696,110 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,276,120 (GRCm39)	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,136,526 (GRCm39)	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,620,797 (GRCm39)	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,339,773 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 53,001,892 (GRCm39)	D118G	probably damaging	Het
Zfp111	G	A	7: 23,898,067 (GRCm39)	P516S	possibly 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
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
Z1176:Trp73	UTSW	4	154,151,469 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCCTGTGTGCTCATTCAG -3'
(R):5'- GGCTCCTGTAACAAGACACC -3'

Sequencing Primer
(F):5'- CATTCAGTCCTCAGTACCAGG -3'
(R):5'- TGGGGCTTCCACCTTAGC -3'

Posted On

2022-11-14