Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Pmm1'

603367

Institutional Source

Beutler Lab

Gene Symbol

Pmm1

Ensembl Gene

ENSMUSG00000022474

Gene Name

phosphomannomutase 1

Synonyms

Secp53 (yeast) homolog

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81835309-81845131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81842014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 62 (Q62L)

Ref Sequence

ENSEMBL: ENSMUSP00000023112 (fasta)

Gene Model

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

AlphaFold

O35621

Predicted Effect

probably damaging
Transcript: ENSMUST00000023112
AA Change: Q62L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474
AA Change: Q62L

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: ENSMUST00000071462

SMART Domains

Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155781

SMART Domains

Protein: ENSMUSP00000115551
Gene: ENSMUSG00000022474

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000230229
AA Change: Q62L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adamts9	A	G	6: 92,920,126 (GRCm39)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,475,260 (GRCm39)		probably benign	Het
Alk	A	G	17: 72,202,931 (GRCm39)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Ano3	A	C	2: 110,527,381 (GRCm39)	L609R	probably benign	Het
Bicc1	A	G	10: 70,771,660 (GRCm39)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,104,906 (GRCm39)		probably benign	Het
Card6	T	C	15: 5,129,624 (GRCm39)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,597,937 (GRCm39)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,368,582 (GRCm39)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 47,047,670 (GRCm39)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,755,796 (GRCm39)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyp8b1	A	T	9: 121,744,561 (GRCm39)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,447,985 (GRCm39)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,327,751 (GRCm39)		probably benign	Het
Ercc6l2	A	T	13: 64,000,831 (GRCm39)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,522,706 (GRCm39)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,793,960 (GRCm39)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,981,149 (GRCm39)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm4884	C	A	7: 40,690,233 (GRCm39)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,779 (GRCm39)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm39)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,479,650 (GRCm39)		probably benign	Het
Kif18b	T	C	11: 102,803,192 (GRCm39)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,019,995 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,088,057 (GRCm39)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 122,969,059 (GRCm39)		probably null	Het
Lmna	A	G	3: 88,391,361 (GRCm39)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Mboat7	T	A	7: 3,694,856 (GRCm39)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,183,387 (GRCm39)		probably benign	Het
Morc2a	T	A	11: 3,626,191 (GRCm39)	M225K	probably benign	Het
Mpdz	G	A	4: 81,211,829 (GRCm39)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,455,924 (GRCm39)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,984 (GRCm39)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,799,565 (GRCm39)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,329,409 (GRCm39)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Numa1	T	C	7: 101,648,987 (GRCm39)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,308,469 (GRCm39)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,124,190 (GRCm39)	S182P	probably benign	Het
Otop2	G	T	11: 115,214,492 (GRCm39)	R83L	probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,301,514 (GRCm39)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,756,800 (GRCm39)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rsrp1	T	A	4: 134,651,266 (GRCm39)	V10E	unknown	Het
Sh2d6	C	T	6: 72,493,371 (GRCm39)		probably null	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,236,077 (GRCm39)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Sost	A	T	11: 101,854,958 (GRCm39)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,777,726 (GRCm39)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,183,975 (GRCm39)		probably null	Het
Tcaf1	C	T	6: 42,656,107 (GRCm39)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tex55	T	C	16: 38,648,363 (GRCm39)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm39)	I15V	unknown	Het
Tmem241	A	T	18: 12,116,618 (GRCm39)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,032,270 (GRCm39)	V100G	probably benign	Het
Trim66	A	G	7: 109,059,960 (GRCm39)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,394,464 (GRCm39)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,406,795 (GRCm39)	V220A	probably benign	Het
Zan	T	A	5: 137,389,982 (GRCm39)	Q4830L	unknown	Het

Other mutations in Pmm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Pmm1	APN	15	81,839,945 (GRCm39)	missense	probably damaging	1.00
IGL01348:Pmm1	APN	15	81,836,219 (GRCm39)	missense	probably damaging	0.98
IGL01743:Pmm1	APN	15	81,844,987 (GRCm39)	missense	probably benign	0.02
R1564:Pmm1	UTSW	15	81,840,401 (GRCm39)	missense	probably damaging	1.00
R2202:Pmm1	UTSW	15	81,840,601 (GRCm39)	missense	probably benign	0.05
R5008:Pmm1	UTSW	15	81,842,095 (GRCm39)	critical splice donor site	probably null
R5775:Pmm1	UTSW	15	81,836,156 (GRCm39)	missense	probably benign	0.16
R6409:Pmm1	UTSW	15	81,845,008 (GRCm39)	missense	probably benign	0.01
R7184:Pmm1	UTSW	15	81,840,415 (GRCm39)	missense	probably damaging	1.00
R7545:Pmm1	UTSW	15	81,835,803 (GRCm39)	missense	probably damaging	0.97
R8248:Pmm1	UTSW	15	81,844,932 (GRCm39)	missense	possibly damaging	0.95
R9022:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9023:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9024:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9072:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9072:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9073:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9074:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9076:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9077:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9116:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9768:Pmm1	UTSW	15	81,840,460 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- ATAAATGGAGGCCAGTCGAGTC -3'
(R):5'- AGATTCAGGTAGGAGGGCTC -3'

Sequencing Primer
(F):5'- GGGAGATATTAAAATGTGCATCGTC -3'
(R):5'- AGGGCTCCCTAATTCTGAGC -3'

Posted On

2019-12-04