Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Ppm1h'

52027

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1h

Ensembl Gene

ENSMUSG00000034613

Gene Name

protein phosphatase 1H (PP2C domain containing)

Synonyms

ARHCL1, A430075L18Rik, C030002B11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

122678762-122945795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122907571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 400 (D400G)

Ref Sequence

ENSEMBL: ENSMUSP00000124982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067918] [ENSMUST00000161487] [ENSMUST00000162969]

AlphaFold

Q3UYC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067918
AA Change: D400G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: D400G

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
PP2Cc	67	504	1.22e-35	SMART
PP2C_SIG	136	506	1.59e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161065

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161487
AA Change: D400G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124982
Gene: ENSMUSG00000034613
AA Change: D400G

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
PP2Cc	67	455	6.36e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162969
AA Change: D19G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000124006
Gene: ENSMUSG00000034613
AA Change: D19G

Domain	Start	End	E-Value	Type
Pfam:PP2C	2	99	2.9e-14	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Anks4b	A	G	7: 120,173,925	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,340,121	S209T	probably benign	Het
Ccdc78	A	G	17: 25,788,832	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,980,274	N1362K	probably benign	Het
Dnah2	T	C	11: 69,478,092	N1662S	possibly damaging	Het
Ern2	T	A	7: 122,170,092	R904W	probably damaging	Het
Fam120c	C	T	X: 151,469,587	P1045S	probably benign	Het
Gm12887	C	T	4: 121,616,413		probably benign	Het
Gpld1	G	A	13: 24,982,566	G627S	probably damaging	Het
Ikbkap	C	T	4: 56,784,537		probably null	Het
Krt77	T	A	15: 101,860,880		probably benign	Het
Ltf	A	T	9: 111,022,882		probably null	Het
Map3k6	G	T	4: 133,247,302		probably null	Het
Nsd1	G	A	13: 55,263,429	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,642,645		probably null	Het
Popdc2	T	A	16: 38,373,965	N249K	probably damaging	Het
Rps6ka1	A	T	4: 133,860,870	S320T	probably damaging	Het
Rsph6a	C	T	7: 19,054,868	R42*	probably null	Het
Sap130	T	C	18: 31,715,443	L967P	probably damaging	Het
Smyd2	T	C	1: 189,897,470	E121G	possibly damaging	Het
Sspo	G	A	6: 48,449,479	W144*	probably null	Het
Taar6	A	G	10: 23,985,072	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,185,828	V114E	probably damaging	Het
Trim16	T	C	11: 62,820,704	I67T	probably benign	Het
Ttll7	A	G	3: 146,909,582	D267G	possibly damaging	Het
Ttn	T	C	2: 76,889,729		probably benign	Het
Vmn2r56	T	A	7: 12,713,089	I379F	probably damaging	Het
Zfp14	T	C	7: 30,038,085	T492A	probably damaging	Het

Other mutations in Ppm1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Ppm1h	APN	10	122878629	critical splice donor site	probably null
IGL01557:Ppm1h	APN	10	122782181	critical splice acceptor site	probably null
IGL01608:Ppm1h	APN	10	122941280	nonsense	probably null
IGL02112:Ppm1h	APN	10	122802400	missense	possibly damaging	0.86
R0129:Ppm1h	UTSW	10	122941355	missense	probably damaging	0.97
R0217:Ppm1h	UTSW	10	122920735	missense	probably damaging	1.00
R0309:Ppm1h	UTSW	10	122920782	missense	probably damaging	1.00
R0455:Ppm1h	UTSW	10	122802324	missense	probably benign	0.00
R1144:Ppm1h	UTSW	10	122941278	missense	probably benign	0.01
R1430:Ppm1h	UTSW	10	122857099	missense	probably damaging	1.00
R2014:Ppm1h	UTSW	10	122920725	missense	possibly damaging	0.79
R2021:Ppm1h	UTSW	10	122878528	nonsense	probably null
R2882:Ppm1h	UTSW	10	122941334	missense	probably damaging	0.99
R3767:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R3768:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R3770:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R4816:Ppm1h	UTSW	10	122679379	missense	possibly damaging	0.89
R4996:Ppm1h	UTSW	10	122941340	missense	probably damaging	1.00
R5640:Ppm1h	UTSW	10	122782278	missense	probably benign	0.30
R6199:Ppm1h	UTSW	10	122920739	missense	probably damaging	1.00
R7759:Ppm1h	UTSW	10	122904113	missense	probably benign
R7991:Ppm1h	UTSW	10	122782247	missense	probably benign	0.00
R8160:Ppm1h	UTSW	10	122802436	missense	probably benign	0.01
R8300:Ppm1h	UTSW	10	122782213	missense	probably damaging	1.00
R8906:Ppm1h	UTSW	10	122878546	missense	probably damaging	1.00
R9104:Ppm1h	UTSW	10	122802359	missense	probably benign	0.01
R9459:Ppm1h	UTSW	10	122907577	missense	possibly damaging	0.62

Posted On

2013-06-21