Mutagenetix > Incidental Mutation

Incidental Mutation 'R4086:Pgls'

317368

Institutional Source

Beutler Lab

Gene Symbol

Pgls

Ensembl Gene

ENSMUSG00000031807

Gene Name

6-phosphogluconolactonase

Synonyms

1110030K05Rik

MMRRC Submission

041625-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R4086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72044828-72048911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72048734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 142 (A142T)

Ref Sequence

ENSEMBL: ENSMUSP00000116524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034264] [ENSMUST00000127626] [ENSMUST00000143441] [ENSMUST00000143662]

AlphaFold

Q9CQ60

Predicted Effect

probably damaging
Transcript: ENSMUST00000034264
AA Change: A225T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034264
Gene: ENSMUSG00000031807
AA Change: A225T

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	18	217	2.1e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124485

Predicted Effect

probably benign
Transcript: ENSMUST00000127626

SMART Domains

Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	18	214	7.2e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132891

Predicted Effect

probably benign
Transcript: ENSMUST00000138742

SMART Domains

Protein: ENSMUSP00000120113
Gene: ENSMUSG00000031807

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	7	174	7.6e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141594

Predicted Effect

probably damaging
Transcript: ENSMUST00000143441
AA Change: A142T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116524
Gene: ENSMUSG00000031807
AA Change: A142T

Domain	Start	End	E-Value	Type
Pfam:Glucosamine_iso	12	134	3.8e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143662

SMART Domains

Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
PH	68	196	4.94e-4	SMART
low complexity region	218	230	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
low complexity region	437	448	N/A	INTRINSIC

Meta Mutation Damage Score

0.3774

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	G	A	2: 3,341,488 (GRCm39)		probably null	Het
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Adcy7	A	G	8: 89,042,414 (GRCm39)	D427G	probably benign	Het
Adrm1	A	G	2: 179,814,627 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,233,984 (GRCm39)	I1103M	probably benign	Het
Arhgap32	A	C	9: 32,158,362 (GRCm39)		probably benign	Het
Arhgef28	T	C	13: 98,103,712 (GRCm39)	R767G	probably damaging	Het
BC046251	A	G	7: 65,231,896 (GRCm39)		noncoding transcript	Het
Brwd1	T	C	16: 95,847,572 (GRCm39)	S683G	probably benign	Het
Calcoco1	C	G	15: 102,618,834 (GRCm39)		probably benign	Het
Carmil1	G	T	13: 24,208,444 (GRCm39)	P834T	possibly damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col24a1	G	A	3: 145,167,192 (GRCm39)	G1090R	probably damaging	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Ets2	C	A	16: 95,510,833 (GRCm39)	D30E	probably damaging	Het
Fam181b	T	C	7: 92,729,788 (GRCm39)	V187A	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo41	C	T	6: 85,455,528 (GRCm39)	R552Q	possibly damaging	Het
Fstl5	G	T	3: 76,555,593 (GRCm39)	C53F	probably damaging	Het
Ftsj3	T	C	11: 106,140,395 (GRCm39)	Y791C	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	A	G	5: 110,091,121 (GRCm39)	K458E	probably benign	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Ipo9	A	G	1: 135,316,428 (GRCm39)		probably benign	Het
Krtap31-1	C	T	11: 99,799,145 (GRCm39)	T116I	possibly damaging	Het
Mafa	T	G	15: 75,618,986 (GRCm39)	K262N	probably damaging	Het
Nxph4	T	C	10: 127,362,555 (GRCm39)	Y112C	probably damaging	Het
Or5ak4	C	A	2: 85,162,170 (GRCm39)	W24L	probably benign	Het
Or6c70	A	G	10: 129,710,167 (GRCm39)	V153A	possibly damaging	Het
Phlpp1	A	G	1: 106,274,891 (GRCm39)	I885V	probably benign	Het
Prkcq	A	G	2: 11,288,679 (GRCm39)	D544G	probably damaging	Het
Rnf44	T	C	13: 54,830,148 (GRCm39)	N254D	possibly damaging	Het
Septin10	A	T	10: 59,028,045 (GRCm39)	L92*	probably null	Het
Slc14a2	A	T	18: 78,248,998 (GRCm39)	I156N	probably damaging	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Thap12	A	G	7: 98,365,701 (GRCm39)	D623G	possibly damaging	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Ube2u	T	A	4: 100,407,039 (GRCm39)	I187N	probably benign	Het
Vmn1r90	G	A	7: 14,297,219 (GRCm39)		probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Xpo4	C	T	14: 57,880,490 (GRCm39)		probably benign	Het
Zbtb21	A	T	16: 97,753,963 (GRCm39)	Y135N	probably damaging	Het
Zbtb22	T	A	17: 34,137,142 (GRCm39)	V429D	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zhx1	T	C	15: 57,916,317 (GRCm39)	E643G	possibly damaging	Het
Zzef1	C	T	11: 72,765,879 (GRCm39)	H1469Y	probably benign	Het

Other mutations in Pgls

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02940:Pgls	APN	8	72,046,741 (GRCm39)	missense	probably damaging	0.97
BB012:Pgls	UTSW	8	72,044,996 (GRCm39)	missense	probably damaging	1.00
R7852:Pgls	UTSW	8	72,047,847 (GRCm39)	critical splice donor site	probably null
R7925:Pgls	UTSW	8	72,044,996 (GRCm39)	missense	probably damaging	1.00
R8751:Pgls	UTSW	8	72,047,838 (GRCm39)	missense	probably benign	0.01
R9007:Pgls	UTSW	8	72,048,689 (GRCm39)	unclassified	probably benign
R9186:Pgls	UTSW	8	72,048,833 (GRCm39)	makesense	probably null
RF009:Pgls	UTSW	8	72,045,107 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGAAGCTTTGGATCCCACG -3'
(R):5'- GATCCGTGTGTATGCTCTGC -3'

Sequencing Primer
(F):5'- CTTTGGATCCCACGGTGTGC -3'
(R):5'- GAAACAATAGTTCCAGCAAAGCTG -3'

Posted On

2015-05-15