Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01348:Pmm1'

75183

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pmm1

Ensembl Gene

ENSMUSG00000022474

Gene Name

phosphomannomutase 1

Synonyms

Secp53 (yeast) homolog

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

81951108-81960930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81952018 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 131 (V131A)

Ref Sequence

ENSEMBL: ENSMUSP00000071405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023112] [ENSMUST00000038757] [ENSMUST00000071462] [ENSMUST00000155781] [ENSMUST00000230229] [ENSMUST00000230633]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023112
AA Change: V191A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474
AA Change: V191A

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_3	16	209	7.1e-9	PFAM
Pfam:PMM	35	256	9.1e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038757

SMART Domains

Protein: ENSMUSP00000044441
Gene: ENSMUSG00000042109

Domain	Start	End	E-Value	Type
low complexity region	52	66	N/A	INTRINSIC
CSP	71	136	6.71e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000071462
AA Change: V131A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474
AA Change: V131A

Domain	Start	End	E-Value	Type
Pfam:PMM	16	196	1.4e-87	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152678

Predicted Effect

silent
Transcript: ENSMUST00000155781

SMART Domains

Protein: ENSMUSP00000115551
Gene: ENSMUSG00000022474

Domain	Start	End	E-Value	Type
PDB:2FUE\|A	1	49	7e-21	PDB

Predicted Effect

silent
Transcript: ENSMUST00000229120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229957

Predicted Effect

probably benign
Transcript: ENSMUST00000230229

Predicted Effect

probably benign
Transcript: ENSMUST00000230633

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,517,213	E140G	probably null	Het
8030462N17Rik	A	G	18: 77,673,917	I233T	possibly damaging	Het
Adgrl3	A	G	5: 81,726,723	T956A	probably damaging	Het
Aff4	G	A	11: 53,402,500	S772N	probably benign	Het
Atad5	A	G	11: 80,095,564	I492M	probably benign	Het
Atf4	T	C	15: 80,256,527		probably benign	Het
Atrip	A	G	9: 109,069,295	S219P	probably damaging	Het
Axl	G	A	7: 25,763,309	R656W	probably damaging	Het
B3gnt3	T	A	8: 71,693,004	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,933,687	V915A	possibly damaging	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Cacna1s	T	C	1: 136,075,152	V329A	possibly damaging	Het
Celf3	C	A	3: 94,488,228	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,510,727	S292P	probably damaging	Het
Clec18a	G	A	8: 111,071,613	A423V	probably damaging	Het
Clnk	T	C	5: 38,713,207	D336G	probably damaging	Het
Csmd1	T	G	8: 15,910,596	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,869,007	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,183,718	I87T	probably damaging	Het
Ell3	A	G	2: 121,441,796	S66P	probably damaging	Het
Ercc4	T	C	16: 13,132,934	F631L	probably damaging	Het
Etl4	T	A	2: 20,806,973	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,493,607		probably benign	Het
Gm4553	C	T	7: 142,165,172	C173Y	unknown	Het
Gm8989	T	A	7: 106,329,835	H285L	unknown	Het
Gykl1	A	T	18: 52,694,736	I339F	possibly damaging	Het
H60b	A	C	10: 22,286,179	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,388,905	T407I	probably damaging	Het
Itga11	A	G	9: 62,744,579	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,343	C430S	probably damaging	Het
Mfsd4a	T	C	1: 132,067,826	S1G	probably null	Het
Mybpc2	C	A	7: 44,515,928	M372I	probably benign	Het
Myh10	A	T	11: 68,811,803	T1768S	probably benign	Het
Myh8	A	G	11: 67,297,780	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,817,880	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,629,146	N2119T	probably damaging	Het
Nek11	C	T	9: 105,392,913	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,227,974	N479D	probably damaging	Het
Nup160	A	G	2: 90,700,428	T477A	probably benign	Het
Olfr121	A	T	17: 37,752,286	H144L	probably benign	Het
Olfr186	T	A	16: 59,027,794	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,690,240	V259A	probably benign	Het
Polr3a	A	T	14: 24,461,763	D908E	probably damaging	Het
Psg29	A	C	7: 17,210,673	R369S	probably benign	Het
Ptprq	T	A	10: 107,711,904	D211V	probably damaging	Het
Rdh9	A	G	10: 127,776,792	N103S	probably benign	Het
Riok3	T	C	18: 12,152,963		probably benign	Het
Serpinb1b	A	T	13: 33,091,415	Q174H	probably benign	Het
Sgip1	G	T	4: 102,915,156		probably null	Het
Sgpp1	A	T	12: 75,734,993	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,194,131	N641S	probably damaging	Het
Slc5a4b	T	C	10: 76,070,588	N399S	probably damaging	Het
Snx16	C	T	3: 10,419,159	A335T	probably damaging	Het
Sos2	C	T	12: 69,618,092	R355H	probably damaging	Het
Szt2	A	G	4: 118,393,624		probably benign	Het
Tbcd	T	A	11: 121,497,076	D344E	probably benign	Het
Tek	C	A	4: 94,859,658	Q988K	probably damaging	Het
Tgm6	A	G	2: 130,137,379	D143G	probably damaging	Het
Tpx2	A	G	2: 152,893,591	K713R	probably damaging	Het
Trappc9	T	A	15: 72,937,009	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,877,651	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,238,252		probably null	Het
Usp37	T	C	1: 74,461,702	S567G	probably damaging	Het
Zfp773	A	T	7: 7,135,315	V107D	possibly damaging	Het

Other mutations in Pmm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Pmm1	APN	15	81955744	missense	probably damaging	1.00
IGL01743:Pmm1	APN	15	81960786	missense	probably benign	0.02
R1564:Pmm1	UTSW	15	81956200	missense	probably damaging	1.00
R2202:Pmm1	UTSW	15	81956400	missense	probably benign	0.05
R5008:Pmm1	UTSW	15	81957894	critical splice donor site	probably null
R5775:Pmm1	UTSW	15	81951955	missense	probably benign	0.16
R6409:Pmm1	UTSW	15	81960807	missense	probably benign	0.01
R7184:Pmm1	UTSW	15	81956214	missense	probably damaging	1.00
R7545:Pmm1	UTSW	15	81951602	missense	probably damaging	0.97
R8248:Pmm1	UTSW	15	81960731	missense	possibly damaging	0.95
RF013:Pmm1	UTSW	15	81957813	missense	probably damaging	0.99

Posted On

2013-10-07