Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00590:Pgm2l1'

5199

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgm2l1

Ensembl Gene

ENSMUSG00000030729

Gene Name

phosphoglucomutase 2-like 1

Synonyms

4931406N15Rik, BM32A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

IGL00590

Quality Score

Status

Chromosome

Chromosomal Location

99876601-99928075 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 99904826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054436] [ENSMUST00000084935] [ENSMUST00000162108]

AlphaFold

Q8CAA7

Predicted Effect

probably benign
Transcript: ENSMUST00000054436

SMART Domains

Protein: ENSMUSP00000054782
Gene: ENSMUSG00000030729

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	64	212	2.5e-36	PFAM
Pfam:PGM_PMM_II	237	347	2e-25	PFAM
Pfam:PGM_PMM_III	353	481	5.4e-15	PFAM
Pfam:PGM_PMM_IV	524	604	5.9e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000084935

SMART Domains

Protein: ENSMUSP00000081998
Gene: ENSMUSG00000030729

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	64	212	4e-36	PFAM
Pfam:PGM_PMM_II	237	347	2.4e-26	PFAM
Pfam:PGM_PMM_III	353	481	8e-16	PFAM
Pfam:PGM_PMM_IV	526	601	8.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162108

SMART Domains

Protein: ENSMUSP00000124851
Gene: ENSMUSG00000030729

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	64	212	4e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208158

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,038 (GRCm39)	F58C	probably damaging	Het
Adgrf5	G	T	17: 43,764,038 (GRCm39)	G1320V	probably damaging	Het
Akap13	A	G	7: 75,260,417 (GRCm39)	K211E	probably benign	Het
Akap8l	T	C	17: 32,552,071 (GRCm39)	D402G	possibly damaging	Het
Akna	T	C	4: 63,290,115 (GRCm39)	I1198V	probably benign	Het
Apaf1	T	A	10: 90,859,650 (GRCm39)	I832F	probably damaging	Het
Cbl	A	C	9: 44,112,495 (GRCm39)	L67V	probably damaging	Het
Chl1	T	C	6: 103,670,022 (GRCm39)	Y471H	probably benign	Het
Cystm1	T	A	18: 36,499,728 (GRCm39)	Y48N	unknown	Het
Dennd5b	T	C	6: 148,969,806 (GRCm39)	T216A	probably benign	Het
Dpep2	A	T	8: 106,715,453 (GRCm39)	M356K	probably damaging	Het
Dtymk	A	G	1: 93,722,446 (GRCm39)		probably null	Het
Fam91a1	A	G	15: 58,287,565 (GRCm39)	D4G	possibly damaging	Het
Fbxl20	A	G	11: 97,983,955 (GRCm39)	L306P	probably damaging	Het
Fchsd1	C	T	18: 38,098,946 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,983,933 (GRCm39)	T1331I	unknown	Het
Gpatch8	T	C	11: 102,371,375 (GRCm39)	D721G	unknown	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Heyl	A	G	4: 123,140,423 (GRCm39)	*327W	probably null	Het
Kif13b	G	T	14: 65,016,911 (GRCm39)	R1359L	probably damaging	Het
Map3k14	C	T	11: 103,128,380 (GRCm39)	G414S	probably damaging	Het
Meis2	C	T	2: 115,699,274 (GRCm39)	A330T	probably damaging	Het
Mrpl9	T	C	3: 94,351,003 (GRCm39)	L61P	probably damaging	Het
Mrps6	A	G	16: 91,896,548 (GRCm39)	N38D	probably benign	Het
Muc4	C	T	16: 32,575,465 (GRCm39)	T1407I	probably benign	Het
Nup107	A	G	10: 117,599,708 (GRCm39)	Y604H	probably damaging	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Rb1cc1	T	C	1: 6,308,520 (GRCm39)	F52S	probably damaging	Het
Rnft1	T	A	11: 86,386,740 (GRCm39)	W383R	probably damaging	Het
Tas2r104	A	T	6: 131,662,530 (GRCm39)	W60R	probably damaging	Het
Tlr11	A	G	14: 50,598,373 (GRCm39)	T120A	probably benign	Het
Tmem150b	T	G	7: 4,726,896 (GRCm39)	I71L	probably benign	Het
Zfp296	A	G	7: 19,311,760 (GRCm39)	D89G	possibly damaging	Het

Other mutations in Pgm2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0044:Pgm2l1	UTSW	7	99,899,539 (GRCm39)	missense	probably benign	0.01
R0044:Pgm2l1	UTSW	7	99,899,539 (GRCm39)	missense	probably benign	0.01
R0106:Pgm2l1	UTSW	7	99,899,580 (GRCm39)	missense	probably benign	0.07
R0106:Pgm2l1	UTSW	7	99,899,580 (GRCm39)	missense	probably benign	0.07
R0394:Pgm2l1	UTSW	7	99,901,405 (GRCm39)	missense	probably damaging	1.00
R1518:Pgm2l1	UTSW	7	99,910,932 (GRCm39)	missense	probably benign	0.00
R2184:Pgm2l1	UTSW	7	99,917,362 (GRCm39)	missense	possibly damaging	0.82
R2207:Pgm2l1	UTSW	7	99,917,319 (GRCm39)	splice site	probably null
R2344:Pgm2l1	UTSW	7	99,909,115 (GRCm39)	missense	probably damaging	0.99
R3804:Pgm2l1	UTSW	7	99,901,474 (GRCm39)	missense	probably benign	0.00
R4292:Pgm2l1	UTSW	7	99,899,508 (GRCm39)	missense	probably damaging	1.00
R4789:Pgm2l1	UTSW	7	99,916,794 (GRCm39)	missense	probably benign
R4872:Pgm2l1	UTSW	7	99,877,204 (GRCm39)	missense	probably damaging	1.00
R5001:Pgm2l1	UTSW	7	99,921,583 (GRCm39)	missense	probably benign	0.00
R5081:Pgm2l1	UTSW	7	99,917,472 (GRCm39)	missense	probably benign
R5181:Pgm2l1	UTSW	7	99,910,965 (GRCm39)	missense	probably benign	0.01
R5417:Pgm2l1	UTSW	7	99,921,583 (GRCm39)	missense	probably benign	0.00
R5500:Pgm2l1	UTSW	7	99,917,340 (GRCm39)	missense	probably benign	0.00
R6057:Pgm2l1	UTSW	7	99,915,881 (GRCm39)	missense	probably benign	0.33
R6414:Pgm2l1	UTSW	7	99,904,747 (GRCm39)	missense	possibly damaging	0.88
R7356:Pgm2l1	UTSW	7	99,917,326 (GRCm39)	missense	possibly damaging	0.94
R7658:Pgm2l1	UTSW	7	99,899,535 (GRCm39)	missense	probably damaging	0.98
R7967:Pgm2l1	UTSW	7	99,910,854 (GRCm39)	missense	probably damaging	1.00
R8031:Pgm2l1	UTSW	7	99,921,625 (GRCm39)	missense	probably damaging	1.00
R8283:Pgm2l1	UTSW	7	99,902,460 (GRCm39)	missense	probably benign	0.26
R8432:Pgm2l1	UTSW	7	99,909,260 (GRCm39)	missense	possibly damaging	0.48
R9289:Pgm2l1	UTSW	7	99,919,629 (GRCm39)	missense	probably damaging	1.00
Z1176:Pgm2l1	UTSW	7	99,919,662 (GRCm39)	missense	possibly damaging	0.79

Posted On

2012-04-20