Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02952:Ppp1r14bl'

364946

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r14bl

Ensembl Gene

ENSMUSG00000073730

Gene Name

protein phosphatase 1, regulatory inhibitor subunit 14B like

Synonyms

4933415F23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.026) question?

Stock #

IGL02952

Quality Score

Status

Chromosome

Chromosomal Location

23139554-23141334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23141071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 81 (I81N)

Ref Sequence

ENSEMBL: ENSMUSP00000072920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073179]

AlphaFold

Q14BX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000073179
AA Change: I81N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072920
Gene: ENSMUSG00000073730
AA Change: I81N

Domain	Start	End	E-Value	Type
Pfam:PP1_inhibitor	39	153	4.5e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191045

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,984 (GRCm39)	D1436V	probably damaging	Het
Abca7	G	T	10: 79,843,242 (GRCm39)	R1239L	probably damaging	Het
Acp2	T	C	2: 91,038,788 (GRCm39)		probably benign	Het
Adamts4	A	G	1: 171,078,917 (GRCm39)	N179S	probably damaging	Het
Adgrv1	T	C	13: 81,581,755 (GRCm39)	D4763G	probably benign	Het
Atp11b	T	C	3: 35,882,844 (GRCm39)	V633A	probably damaging	Het
Cadm2	A	T	16: 66,461,338 (GRCm39)	I342K	probably damaging	Het
Capn10	T	C	1: 92,872,896 (GRCm39)	S541P	probably damaging	Het
Ccnf	A	G	17: 24,450,299 (GRCm39)	L462P	possibly damaging	Het
Cdc27	T	C	11: 104,408,290 (GRCm39)	Y546C	probably damaging	Het
Cep120	G	T	18: 53,816,300 (GRCm39)		probably benign	Het
Cetn2	T	C	X: 71,957,808 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,609,993 (GRCm39)	S469L	probably benign	Het
Dnah17	G	A	11: 117,979,094 (GRCm39)	T1766I	probably benign	Het
Doc2g	G	A	19: 4,056,719 (GRCm39)	G345D	possibly damaging	Het
Dock4	T	C	12: 40,760,902 (GRCm39)		probably null	Het
Dop1a	T	A	9: 86,414,975 (GRCm39)		probably benign	Het
Emilin2	C	A	17: 71,587,816 (GRCm39)	V99F	probably damaging	Het
Exoc8	A	G	8: 125,624,275 (GRCm39)	S31P	probably benign	Het
Gask1b	T	C	3: 79,793,646 (GRCm39)	L38P	probably damaging	Het
Gm3115	T	C	14: 4,084,302 (GRCm38)		probably benign	Het
Gm9742	T	A	13: 8,079,930 (GRCm39)		noncoding transcript	Het
Gpr160	T	C	3: 30,950,443 (GRCm39)	Y172H	probably benign	Het
Ifnk	T	A	4: 35,152,495 (GRCm39)	L141Q	probably damaging	Het
Klhl36	A	G	8: 120,597,223 (GRCm39)	E308G	probably benign	Het
Lrp1b	T	C	2: 41,396,715 (GRCm39)	I450M	probably benign	Het
Noxa1	T	C	2: 24,981,773 (GRCm39)	Y110C	probably damaging	Het
Or10ad1	T	C	15: 98,105,470 (GRCm39)	Y265C	probably damaging	Het
Pkd2	A	T	5: 104,628,026 (GRCm39)	T367S	possibly damaging	Het
Polg2	T	C	11: 106,663,539 (GRCm39)	I385V	possibly damaging	Het
Prr14l	A	G	5: 32,993,014 (GRCm39)	S17P	unknown	Het
Prss22	C	A	17: 24,215,697 (GRCm39)	C75F	probably damaging	Het
Ptgs1	A	G	2: 36,141,253 (GRCm39)	K567E	probably benign	Het
Ptprz1	A	G	6: 23,036,925 (GRCm39)	I1141M	probably damaging	Het
R3hcc1l	A	G	19: 42,552,433 (GRCm39)	K477E	probably damaging	Het
Riok1	A	G	13: 38,232,866 (GRCm39)	Y194C	probably damaging	Het
Smr2	T	A	5: 88,236,095 (GRCm39)	C16S	possibly damaging	Het
Stk25	A	T	1: 93,553,798 (GRCm39)	I187N	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Vmn2r3	T	C	3: 64,186,256 (GRCm39)	E143G	probably damaging	Het

Other mutations in Ppp1r14bl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4748:Ppp1r14bl	UTSW	1	23,140,951 (GRCm39)	missense	probably damaging	0.99
R5206:Ppp1r14bl	UTSW	1	23,141,183 (GRCm39)	missense	probably benign	0.03
R5530:Ppp1r14bl	UTSW	1	23,141,071 (GRCm39)	missense	probably damaging	1.00
R6477:Ppp1r14bl	UTSW	1	23,140,861 (GRCm39)	missense	probably benign	0.00
R9257:Ppp1r14bl	UTSW	1	23,141,275 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18