Mutagenetix > Incidental Mutation

Incidental Mutation 'R5842:Trp53tg5'

450479

Institutional Source

Beutler Lab

Gene Symbol

Trp53tg5

Ensembl Gene

ENSMUSG00000017720

Gene Name

transformation related protein 53 target 5

Synonyms

1700126L10Rik

MMRRC Submission

043223-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164312221-164315644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164313289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 129 (K129E)

Ref Sequence

ENSEMBL: ENSMUSP00000017864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017864] [ENSMUST00000125086] [ENSMUST00000138268] [ENSMUST00000142892] [ENSMUST00000164863]

AlphaFold

Q9D976

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017864
AA Change: K129E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000017864
Gene: ENSMUSG00000017720
AA Change: K129E

Domain	Start	End	E-Value	Type
Pfam:TP53IP5	28	238	2e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125086

SMART Domains

Protein: ENSMUSP00000121900
Gene: ENSMUSG00000045503

Domain	Start	End	E-Value	Type
Pfam:SYS1	5	148	9.2e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138268

SMART Domains

Protein: ENSMUSP00000117507
Gene: ENSMUSG00000045503

Domain	Start	End	E-Value	Type
Pfam:SYS1	5	76	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142892

SMART Domains

Protein: ENSMUSP00000114360
Gene: ENSMUSG00000045503

Domain	Start	End	E-Value	Type
Pfam:SYS1	5	76	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164863

SMART Domains

Protein: ENSMUSP00000126658
Gene: ENSMUSG00000090996

Domain	Start	End	E-Value	Type
Pfam:SYS1	5	78	6.7e-22	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	G	A	3: 127,474,618 (GRCm39)	H462Y	probably damaging	Het
Atp12a	T	C	14: 56,615,747 (GRCm39)	I503T	probably damaging	Het
Bmp6	T	A	13: 38,530,543 (GRCm39)	V212D	probably damaging	Het
Col7a1	A	G	9: 108,794,883 (GRCm39)	D1479G	unknown	Het
Eea1	A	G	10: 95,853,986 (GRCm39)	D548G	probably damaging	Het
Eif5a2	T	C	3: 28,848,546 (GRCm39)	V135A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fstl5	T	G	3: 76,229,590 (GRCm39)	N130K	possibly damaging	Het
Gatm	T	C	2: 122,434,108 (GRCm39)	I147V	probably benign	Het
Jakmip1	C	T	5: 37,264,612 (GRCm39)	R418C	probably damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Matn2	A	T	15: 34,399,202 (GRCm39)	D363V	probably damaging	Het
Mov10	G	A	3: 104,706,695 (GRCm39)		probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Nbas	T	C	12: 13,319,267 (GRCm39)		probably null	Het
Nlgn1	A	T	3: 26,187,892 (GRCm39)		probably null	Het
Nnt	T	A	13: 119,531,283 (GRCm39)	I155F	probably damaging	Het
Or5p80	A	G	7: 108,229,859 (GRCm39)	Y220C	probably benign	Het
Pacc1	G	T	1: 191,078,986 (GRCm39)	C223F	probably damaging	Het
Parp9	A	G	16: 35,763,778 (GRCm39)	I19V	possibly damaging	Het
Pcdha11	T	A	18: 37,144,337 (GRCm39)	S143T	possibly damaging	Het
Pdzph1	T	G	17: 59,281,407 (GRCm39)	S292R	possibly damaging	Het
Pmvk	T	A	3: 89,374,927 (GRCm39)	V108D	probably damaging	Het
Rc3h2	T	C	2: 37,268,383 (GRCm39)	T916A	possibly damaging	Het
Slc23a1	T	A	18: 35,755,935 (GRCm39)	I393F	probably damaging	Het
Slc4a7	T	A	14: 14,778,866 (GRCm38)	M925K	probably damaging	Het
Spag17	A	G	3: 99,846,566 (GRCm39)	D30G	possibly damaging	Het
Syde2	A	G	3: 145,704,775 (GRCm39)	I576V	probably benign	Het
Tgm2	C	T	2: 157,985,001 (GRCm39)	R35H	probably damaging	Het
Tiam1	A	G	16: 89,652,887 (GRCm39)	V745A	probably benign	Het
Timeless	T	C	10: 128,083,328 (GRCm39)		probably null	Het
Ttc6	T	C	12: 57,783,802 (GRCm39)	Y1754H	probably damaging	Het
Ube4b	G	T	4: 149,415,887 (GRCm39)	T1069N	probably benign	Het
Ugcg	C	T	4: 59,219,545 (GRCm39)	S294L	possibly damaging	Het
Vgll2	T	C	10: 51,901,388 (GRCm39)	L106P	probably damaging	Het
Vsig10l	T	A	7: 43,118,396 (GRCm39)	V798E	probably benign	Het
Wdr73	A	T	7: 80,541,458 (GRCm39)	H361Q	probably damaging	Het
Xrcc3	A	T	12: 111,770,964 (GRCm39)	F322I	possibly damaging	Het
Ypel1	T	C	16: 16,912,851 (GRCm39)	T26A	possibly damaging	Het

Other mutations in Trp53tg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02387:Trp53tg5	APN	2	164,313,376 (GRCm39)	missense	possibly damaging	0.75
R0538:Trp53tg5	UTSW	2	164,313,401 (GRCm39)	missense	probably damaging	0.98
R1348:Trp53tg5	UTSW	2	164,315,521 (GRCm39)	critical splice donor site	probably null
R2216:Trp53tg5	UTSW	2	164,313,226 (GRCm39)	missense	probably benign	0.00
R2423:Trp53tg5	UTSW	2	164,313,250 (GRCm39)	nonsense	probably null
R3034:Trp53tg5	UTSW	2	164,313,219 (GRCm39)	missense	probably benign	0.00
R5569:Trp53tg5	UTSW	2	164,313,256 (GRCm39)	missense	probably benign	0.00
R6021:Trp53tg5	UTSW	2	164,313,391 (GRCm39)	missense	probably benign	0.00
R7206:Trp53tg5	UTSW	2	164,313,378 (GRCm39)	missense	probably damaging	1.00
R7366:Trp53tg5	UTSW	2	164,313,027 (GRCm39)	missense	possibly damaging	0.78
R9705:Trp53tg5	UTSW	2	164,313,208 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCCCATGGTAGTGCTGTG -3'
(R):5'- AGCCTGGTAGAGCTAGAACTC -3'

Sequencing Primer
(F):5'- CCCATGGTAGTGCTGTGATGGTAG -3'
(R):5'- GGTTAGAAGGACCCTTTTAGCC -3'

Posted On

2016-12-20