Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Shpk'

78248

Institutional Source

Beutler Lab

Gene Symbol

Shpk

Ensembl Gene

ENSMUSG00000005951

Gene Name

sedoheptulokinase

Synonyms

4930431K22Rik, Carkl

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73090286-73115337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73094857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 91 (M91K)

Ref Sequence

ENSEMBL: ENSMUSP00000006105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006103] [ENSMUST00000006105] [ENSMUST00000108476] [ENSMUST00000131927]

AlphaFold

Q9D5J6

Predicted Effect

probably benign
Transcript: ENSMUST00000006103

SMART Domains

Protein: ENSMUSP00000006103
Gene: ENSMUSG00000005949

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CTNS	140	171	6.43e-12	SMART
transmembrane domain	206	225	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
CTNS	279	310	1.47e-6	SMART
transmembrane domain	338	357	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000006105
AA Change: M91K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: M91K

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	6	264	3.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108476

SMART Domains

Protein: ENSMUSP00000104116
Gene: ENSMUSG00000005949

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CTNS	140	171	6.43e-12	SMART
transmembrane domain	206	225	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
CTNS	279	310	1.47e-6	SMART
transmembrane domain	338	357	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131927
AA Change: M91K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951
AA Change: M91K

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	6	109	3.7e-14	PFAM

Meta Mutation Damage Score

0.9219

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly damaging	Het

Other mutations in Shpk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Shpk	APN	11	73,094,821 (GRCm39)	missense	probably damaging	1.00
IGL03411:Shpk	APN	11	73,105,861 (GRCm39)	missense	probably benign	0.25
R0125:Shpk	UTSW	11	73,105,048 (GRCm39)	splice site	probably benign
R1055:Shpk	UTSW	11	73,105,945 (GRCm39)	missense	probably benign
R1670:Shpk	UTSW	11	73,113,757 (GRCm39)	missense	probably benign	0.00
R2077:Shpk	UTSW	11	73,094,785 (GRCm39)	missense	probably damaging	1.00
R2263:Shpk	UTSW	11	73,097,319 (GRCm39)	critical splice donor site	probably benign
R5281:Shpk	UTSW	11	73,105,946 (GRCm39)	missense	probably benign	0.06
R5443:Shpk	UTSW	11	73,113,607 (GRCm39)	missense	possibly damaging	0.94
R5461:Shpk	UTSW	11	73,090,361 (GRCm39)	missense	probably benign	0.08
R6063:Shpk	UTSW	11	73,104,270 (GRCm39)	nonsense	probably null
R6424:Shpk	UTSW	11	73,104,318 (GRCm39)	missense	possibly damaging	0.50
R7150:Shpk	UTSW	11	73,104,315 (GRCm39)	missense	probably damaging	0.99
R7176:Shpk	UTSW	11	73,113,814 (GRCm39)	missense	probably benign	0.05
R7255:Shpk	UTSW	11	73,090,486 (GRCm39)	missense	probably benign	0.00
R8196:Shpk	UTSW	11	73,094,775 (GRCm39)	missense	probably benign	0.03
R8203:Shpk	UTSW	11	73,104,904 (GRCm39)	missense	probably benign	0.01
R9220:Shpk	UTSW	11	73,113,996 (GRCm39)	makesense	probably null
R9589:Shpk	UTSW	11	73,104,267 (GRCm39)	missense	possibly damaging	0.90
R9632:Shpk	UTSW	11	73,104,238 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACTGTCCAATGCTGTGCTTCC -3'
(R):5'- AACGCAGGTGACAGCCTATGATATG -3'

Sequencing Primer
(F):5'- TCTCTAAGAGATCCCTGGAGGC -3'
(R):5'- ACAGCCTATGATATGCTGTTCTGAG -3'

Posted On

2013-10-16