Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02029:Trp53rkb'

184316

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trp53rkb

Ensembl Gene

ENSMUSG00000042854

Gene Name

transformation related protein 53 regulating kinase B

Synonyms

mNori-2p, Nori-2, 5630401H01Rik, PRPK, 4933401B08Rik, Trp53rk

Accession Numbers

Essential gene?

Probably essential (E-score: 0.803) question?

Stock #

IGL02029

Quality Score

Status

Chromosome

Chromosomal Location

166634451-166641425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 166637314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 90 (P90Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065753] [ENSMUST00000151826]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000051923

Predicted Effect

probably benign
Transcript: ENSMUST00000065753

SMART Domains

Protein: ENSMUSP00000066907
Gene: ENSMUSG00000042854

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
low complexity region	107	137	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000151826
AA Change: P90Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115353
Gene: ENSMUSG00000042854
AA Change: P90Q

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	24	189	1.1e-6	PFAM
Pfam:Pkinase	25	201	5.8e-9	PFAM
Pfam:Kdo	31	216	1.4e-13	PFAM
Pfam:RIO1	36	185	3.8e-10	PFAM
low complexity region	219	230	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	C	10: 126,916,152 (GRCm39)	V221A	unknown	Het
Akr1c13	T	A	13: 4,255,361 (GRCm39)	Y317*	probably null	Het
Bicd2	T	A	13: 49,522,975 (GRCm39)	I30N	probably damaging	Het
Cadm2	G	T	16: 66,544,182 (GRCm39)	N291K	probably damaging	Het
Ccdc61	C	T	7: 18,637,423 (GRCm39)	C68Y	probably damaging	Het
Ccnl2	A	G	4: 155,906,319 (GRCm39)	S351G	probably benign	Het
Cdcp1	A	G	9: 123,012,899 (GRCm39)		probably benign	Het
Clhc1	T	C	11: 29,510,798 (GRCm39)	S256P	probably benign	Het
Fam83h	T	C	15: 75,878,287 (GRCm39)	E37G	probably damaging	Het
Fancd2	C	T	6: 113,547,936 (GRCm39)	L938F	probably benign	Het
Fbn2	G	T	18: 58,342,675 (GRCm39)	A68E	probably benign	Het
Fcrl1	T	A	3: 87,283,794 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,290,338 (GRCm39)	T892A	probably benign	Het
Gramd1a	C	T	7: 30,832,249 (GRCm39)	R596H	possibly damaging	Het
Limk1	A	T	5: 134,686,808 (GRCm39)	Y518*	probably null	Het
Map1a	A	G	2: 121,133,779 (GRCm39)	T1294A	possibly damaging	Het
Marchf3	G	A	18: 56,940,753 (GRCm39)	P126S	probably benign	Het
Ntn5	A	G	7: 45,336,015 (GRCm39)	I149V	probably benign	Het
Nup43	T	C	10: 7,543,347 (GRCm39)	F8L	possibly damaging	Het
Or5b122	A	T	19: 13,563,468 (GRCm39)	M267L	probably benign	Het
Or5be3	A	G	2: 86,864,245 (GRCm39)	F107L	probably benign	Het
P2rx6	C	T	16: 17,385,959 (GRCm39)	S236F	probably benign	Het
Peg10	G	T	6: 4,754,473 (GRCm39)		probably benign	Het
Runx2	T	A	17: 44,969,574 (GRCm39)	R238*	probably null	Het
Serpinb9d	A	T	13: 33,380,512 (GRCm39)	I133L	possibly damaging	Het
Snph	A	G	2: 151,435,527 (GRCm39)	V434A	probably damaging	Het
Ttn	C	A	2: 76,580,148 (GRCm39)	E21836*	probably null	Het
Tut7	A	G	13: 59,932,702 (GRCm39)		probably benign	Het
Ube3c	T	A	5: 29,824,326 (GRCm39)	F507I	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,403 (GRCm39)	S70P	probably benign	Het
Zfp354b	C	T	11: 50,814,664 (GRCm39)	C87Y	probably benign	Het
Zfp462	G	T	4: 55,079,395 (GRCm39)		probably benign	Het

Other mutations in Trp53rkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0200:Trp53rkb	UTSW	2	166,637,603 (GRCm39)	missense	probably damaging	1.00
R0841:Trp53rkb	UTSW	2	166,637,430 (GRCm39)	missense	probably benign	0.02
R1921:Trp53rkb	UTSW	2	166,637,743 (GRCm39)	missense	probably damaging	1.00
R2183:Trp53rkb	UTSW	2	166,635,877 (GRCm39)	missense	possibly damaging	0.52
R3116:Trp53rkb	UTSW	2	166,636,009 (GRCm39)	intron	probably benign
R3925:Trp53rkb	UTSW	2	166,637,392 (GRCm39)	missense	probably damaging	1.00
R3977:Trp53rkb	UTSW	2	166,637,446 (GRCm39)	missense	possibly damaging	0.65
R4191:Trp53rkb	UTSW	2	166,637,395 (GRCm39)	missense	probably damaging	1.00
R8494:Trp53rkb	UTSW	2	166,637,779 (GRCm39)	makesense	probably null
R9366:Trp53rkb	UTSW	2	166,637,700 (GRCm39)	missense	possibly damaging	0.78
R9425:Trp53rkb	UTSW	2	166,637,542 (GRCm39)	missense	probably benign	0.07

Posted On

2014-05-07