Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01608:Ppm1h'

91863

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1h

Ensembl Gene

ENSMUSG00000034613

Gene Name

protein phosphatase 1H (PP2C domain containing)

Synonyms

C030002B11Rik, ARHCL1, A430075L18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

122514667-122781700 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 122777185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 103 (R103*)

Ref Sequence

ENSEMBL: ENSMUSP00000124006 (fasta)

Gene Model

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

AlphaFold

Q3UYC0

Predicted Effect

probably null
Transcript: ENSMUST00000067918
AA Change: R484*

SMART Domains

Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: R484*

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

probably null
Transcript: ENSMUST00000162969
AA Change: R103*

SMART Domains

Protein: ENSMUSP00000124006
Gene: ENSMUSG00000034613
AA Change: R103*

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,038,158 (GRCm39)	L2068Q	probably damaging	Het
Abca12	G	T	1: 71,298,601 (GRCm39)	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,092,535 (GRCm39)	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,592,855 (GRCm39)	S311P	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Atf2	G	T	2: 73,649,422 (GRCm39)	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,970,479 (GRCm39)	R74*	probably null	Het
Brpf3	T	C	17: 29,040,491 (GRCm39)	S971P	probably benign	Het
Btn1a1	T	C	13: 23,645,778 (GRCm39)	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,113 (GRCm39)	A87V	possibly damaging	Het
Celf4	A	G	18: 25,630,560 (GRCm39)	L376P	probably damaging	Het
Chrm3	G	A	13: 9,928,634 (GRCm39)	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,321,626 (GRCm39)	R961C	probably damaging	Het
Cr2	A	G	1: 194,837,528 (GRCm39)	V1190A	possibly damaging	Het
Dop1a	T	A	9: 86,389,614 (GRCm39)	S515T	probably benign	Het
Eprs1	T	A	1: 185,117,311 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,186,776 (GRCm39)	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,741,746 (GRCm39)	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,068,293 (GRCm39)	I44F	probably damaging	Het
Gpr22	T	A	12: 31,758,779 (GRCm39)	K411*	probably null	Het
Ipo11	A	G	13: 106,971,002 (GRCm39)		probably benign	Het
Klri1	T	A	6: 129,675,130 (GRCm39)	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,559,809 (GRCm39)	V950M	probably damaging	Het
Knop1	T	C	7: 118,445,019 (GRCm39)	K315R	probably benign	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lrrc32	T	A	7: 98,148,564 (GRCm39)	V448D	probably benign	Het
Met	T	C	6: 17,558,729 (GRCm39)	V1119A	probably damaging	Het
Minar1	T	C	9: 89,478,551 (GRCm39)	T832A	probably benign	Het
Mipep	T	A	14: 61,039,679 (GRCm39)	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,207,747 (GRCm39)	T81A	probably benign	Het
Mtbp	G	T	15: 55,421,085 (GRCm39)	E24*	probably null	Het
Muc5b	C	T	7: 141,400,174 (GRCm39)	T476I	unknown	Het
Mup6	C	T	4: 60,006,021 (GRCm39)	T163I	probably benign	Het
Myo1g	T	A	11: 6,466,780 (GRCm39)	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,778,119 (GRCm39)	K1292*	probably null	Het
Nbeal1	T	A	1: 60,281,694 (GRCm39)		probably benign	Het
Nck1	C	A	9: 100,379,440 (GRCm39)	R270S	probably benign	Het
Neb	T	C	2: 52,060,548 (GRCm39)	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,343,357 (GRCm39)	L96*	probably null	Het
Or11g1	A	T	14: 50,651,910 (GRCm39)	H303L	probably benign	Het
Or4a77	A	T	2: 89,486,835 (GRCm39)		probably benign	Het
Or51l14	A	T	7: 103,101,011 (GRCm39)	I156F	probably benign	Het
Or5t18	A	C	2: 86,636,769 (GRCm39)	Y191*	probably null	Het
Padi2	A	G	4: 140,659,541 (GRCm39)	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,803 (GRCm39)	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,489,978 (GRCm39)	D552G	probably damaging	Het
Peli3	A	G	19: 4,982,855 (GRCm39)	I270T	probably damaging	Het
Phf20	A	G	2: 156,118,516 (GRCm39)	M407V	probably benign	Het
Rangap1	C	T	15: 81,593,705 (GRCm39)	V457M	probably benign	Het
Scube2	A	G	7: 109,442,461 (GRCm39)	V257A	probably benign	Het
Shc1	C	A	3: 89,332,156 (GRCm39)	Q204K	probably damaging	Het
Slc6a4	T	A	11: 76,917,961 (GRCm39)	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,923,439 (GRCm39)	F7L	probably benign	Het
St6galnac4	T	A	2: 32,484,098 (GRCm39)	C99S	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Supt6	A	T	11: 78,116,309 (GRCm39)	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 192,869,418 (GRCm39)	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,581,560 (GRCm39)	I287F	probably damaging	Het
Zmym2	C	A	14: 57,185,472 (GRCm39)	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	probably damaging	Het

Other mutations in Ppm1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Ppm1h	APN	10	122,714,534 (GRCm39)	critical splice donor site	probably null
IGL01060:Ppm1h	APN	10	122,743,476 (GRCm39)	missense	possibly damaging	0.49
IGL01557:Ppm1h	APN	10	122,618,086 (GRCm39)	critical splice acceptor site	probably null
IGL02112:Ppm1h	APN	10	122,638,305 (GRCm39)	missense	possibly damaging	0.86
R0129:Ppm1h	UTSW	10	122,777,260 (GRCm39)	missense	probably damaging	0.97
R0217:Ppm1h	UTSW	10	122,756,640 (GRCm39)	missense	probably damaging	1.00
R0309:Ppm1h	UTSW	10	122,756,687 (GRCm39)	missense	probably damaging	1.00
R0455:Ppm1h	UTSW	10	122,638,229 (GRCm39)	missense	probably benign	0.00
R1144:Ppm1h	UTSW	10	122,777,183 (GRCm39)	missense	probably benign	0.01
R1430:Ppm1h	UTSW	10	122,693,004 (GRCm39)	missense	probably damaging	1.00
R2014:Ppm1h	UTSW	10	122,756,630 (GRCm39)	missense	possibly damaging	0.79
R2021:Ppm1h	UTSW	10	122,714,433 (GRCm39)	nonsense	probably null
R2882:Ppm1h	UTSW	10	122,777,239 (GRCm39)	missense	probably damaging	0.99
R3767:Ppm1h	UTSW	10	122,740,027 (GRCm39)	missense	probably damaging	1.00
R3768:Ppm1h	UTSW	10	122,740,027 (GRCm39)	missense	probably damaging	1.00
R3770:Ppm1h	UTSW	10	122,740,027 (GRCm39)	missense	probably damaging	1.00
R4816:Ppm1h	UTSW	10	122,515,284 (GRCm39)	missense	possibly damaging	0.89
R4996:Ppm1h	UTSW	10	122,777,245 (GRCm39)	missense	probably damaging	1.00
R5640:Ppm1h	UTSW	10	122,618,183 (GRCm39)	missense	probably benign	0.30
R6199:Ppm1h	UTSW	10	122,756,644 (GRCm39)	missense	probably damaging	1.00
R7759:Ppm1h	UTSW	10	122,740,018 (GRCm39)	missense	probably benign
R7991:Ppm1h	UTSW	10	122,618,152 (GRCm39)	missense	probably benign	0.00
R8160:Ppm1h	UTSW	10	122,638,341 (GRCm39)	missense	probably benign	0.01
R8300:Ppm1h	UTSW	10	122,618,118 (GRCm39)	missense	probably damaging	1.00
R8906:Ppm1h	UTSW	10	122,714,451 (GRCm39)	missense	probably damaging	1.00
R9104:Ppm1h	UTSW	10	122,638,264 (GRCm39)	missense	probably benign	0.01
R9459:Ppm1h	UTSW	10	122,743,482 (GRCm39)	missense	possibly damaging	0.62
R9755:Ppm1h	UTSW	10	122,638,165 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09