Mutagenetix > Incidental Mutation

Incidental Mutation 'R3034:Trp53tg5'

264768

Institutional Source

Beutler Lab

Gene Symbol

Trp53tg5

Ensembl Gene

ENSMUSG00000017720

Gene Name

transformation related protein 53 target 5

Synonyms

1700126L10Rik

MMRRC Submission

040550-MU

Accession Numbers

Essential gene?

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

Stock #

R3034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164312221-164315644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164313219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 152 (K152R)

Ref Sequence

ENSEMBL: ENSMUSP00000017864 (fasta)

Gene Model

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

AlphaFold

Q9D976

Predicted Effect

probably benign
Transcript: ENSMUST00000017864
AA Change: K152R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000017864
Gene: ENSMUSG00000017720
AA Change: K152R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	T	C	11: 70,207,079 (GRCm39)	I576V	probably benign	Het
Apol7a	T	G	15: 77,273,923 (GRCm39)	I180L	probably benign	Het
Aptx	T	C	4: 40,694,994 (GRCm39)	N114S	probably benign	Het
Bltp3a	T	A	17: 28,113,720 (GRCm39)	D1297E	probably damaging	Het
Cd40	T	A	2: 164,904,235 (GRCm39)	S65R	probably benign	Het
Cdh23	C	T	10: 60,244,789 (GRCm39)		probably benign	Het
Coro7	G	A	16: 4,450,155 (GRCm39)	R565W	probably damaging	Het
Cpt1a	C	T	19: 3,428,390 (GRCm39)	T588M	probably damaging	Het
Defb23	A	G	2: 152,301,189 (GRCm39)	S128P	possibly damaging	Het
Dgki	G	A	6: 37,064,605 (GRCm39)	H250Y	probably damaging	Het
Fgr	T	C	4: 132,725,807 (GRCm39)		probably null	Het
Fkbp15	T	C	4: 62,225,129 (GRCm39)		probably null	Het
Gpr137c	C	T	14: 45,457,733 (GRCm39)	S95L	probably damaging	Het
Kirrel1	T	C	3: 86,990,746 (GRCm39)	D692G	possibly damaging	Het
Krt1	C	A	15: 101,759,068 (GRCm39)	R32L	unknown	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Mbl1	C	A	14: 40,880,790 (GRCm39)	S226Y	probably damaging	Het
Mrps28	T	A	3: 8,988,675 (GRCm39)	D61V	probably benign	Het
Mthfd1	A	G	12: 76,336,244 (GRCm39)	K299E	probably benign	Het
Myo1b	A	G	1: 51,812,406 (GRCm39)	Y738H	possibly damaging	Het
Myo5c	A	G	9: 75,193,859 (GRCm39)	T1205A	probably benign	Het
Nfatc2	C	T	2: 168,376,940 (GRCm39)	G317S	probably damaging	Het
Nln	C	T	13: 104,173,947 (GRCm39)	V525I	possibly damaging	Het
Nrap	T	C	19: 56,352,437 (GRCm39)	E549G	probably damaging	Het
Nwd2	T	A	5: 63,957,446 (GRCm39)	Y259N	probably damaging	Het
Oas3	T	C	5: 120,909,121 (GRCm39)	D275G	probably damaging	Het
Or14a256	A	T	7: 86,264,970 (GRCm39)	D294E	possibly damaging	Het
Ovch2	A	G	7: 107,384,699 (GRCm39)	S473P	probably damaging	Het
Pde8b	T	A	13: 95,359,275 (GRCm39)	Y16F	probably damaging	Het
Pmfbp1	A	T	8: 110,247,553 (GRCm39)		probably null	Het
Pmvk	T	C	3: 89,375,824 (GRCm39)	V74A	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rbm26	T	A	14: 105,390,881 (GRCm39)	T202S	unknown	Het
Rheb	C	T	5: 25,008,721 (GRCm39)	E166K	probably damaging	Het
Rnf5	A	G	17: 34,822,332 (GRCm39)	V39A	possibly damaging	Het
Scn7a	T	C	2: 66,513,152 (GRCm39)	Y1168C	probably damaging	Het
Tas2r114	A	G	6: 131,666,611 (GRCm39)	I139T	probably benign	Het
Tma7	T	C	9: 108,911,274 (GRCm39)		probably benign	Het
Tmem181a	T	A	17: 6,330,901 (GRCm39)	S13T	possibly damaging	Het
Tmem62	C	T	2: 120,809,605 (GRCm39)		probably benign	Het
Trim71	T	C	9: 114,341,912 (GRCm39)	D790G	probably damaging	Het
Zdbf2	C	A	1: 63,343,364 (GRCm39)	A581E	probably 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
R5569:Trp53tg5	UTSW	2	164,313,256 (GRCm39)	missense	probably benign	0.00
R5842:Trp53tg5	UTSW	2	164,313,289 (GRCm39)	missense	possibly damaging	0.56
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'- GATCTACACATGATCCGGCG -3'
(R):5'- AGCCTTAATCTGCTGATGGTC -3'

Sequencing Primer
(F):5'- CGCCCTGGGATGTGTATGC -3'
(R):5'- CCTGCCAGGGACAAGGAC -3'

Posted On

2015-02-05