Mutagenetix > Incidental Mutation

Incidental Mutation 'R5443:Shpk'

482213

Institutional Source

Beutler Lab

Gene Symbol

Shpk

Ensembl Gene

ENSMUSG00000005951

Gene Name

sedoheptulokinase

Synonyms

4930431K22Rik, Carkl

MMRRC Submission

043008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73090286-73115337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73113607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 340 (G340D)

Ref Sequence

ENSEMBL: ENSMUSP00000006105 (fasta)

Gene Model

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

AlphaFold

Q9D5J6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006105
AA Change: G340D

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: G340D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121176

Predicted Effect

probably benign
Transcript: ENSMUST00000131927

SMART Domains

Protein: ENSMUSP00000123639
Gene: ENSMUSG00000005951

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

Meta Mutation Damage Score

0.3501

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.9%

Validation Efficiency

99% (68/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,576 (GRCm39)	E795D	probably damaging	Het
Aldh6a1	T	C	12: 84,484,745 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,273,151 (GRCm39)		probably null	Het
Arhgap39	G	A	15: 76,682,125 (GRCm39)		probably benign	Het
AW551984	T	C	9: 39,509,325 (GRCm39)	E272G	possibly damaging	Het
C1qc	G	A	4: 136,619,804 (GRCm39)		probably benign	Het
Carhsp1	C	A	16: 8,482,203 (GRCm39)	R26L	probably benign	Het
Cdh12	G	T	15: 21,237,935 (GRCm39)	V57L	probably benign	Het
Cfap298	G	T	16: 90,724,099 (GRCm39)	Q168K	probably benign	Het
Clec3a	A	G	8: 115,144,893 (GRCm39)	Y23C	probably benign	Het
Crebrf	G	C	17: 26,961,328 (GRCm39)	V150L	probably damaging	Het
Ddx41	G	T	13: 55,683,104 (GRCm39)	A201E	probably benign	Het
Doc2b	T	C	11: 75,670,921 (GRCm39)	K237E	probably damaging	Het
Dst	T	C	1: 34,267,620 (GRCm39)	S5199P	probably damaging	Het
Efnb2	A	G	8: 8,670,862 (GRCm39)	I129T	probably damaging	Het
Epg5	A	G	18: 78,070,712 (GRCm39)	E2329G	possibly damaging	Het
Esrrg	A	C	1: 187,775,622 (GRCm39)	T27P	possibly damaging	Het
Fah	T	A	7: 84,241,604 (GRCm39)	R316W	probably damaging	Het
Fat4	T	C	3: 39,064,519 (GRCm39)	L4825P	probably damaging	Het
Gabbr1	T	C	17: 37,381,648 (GRCm39)	V804A	probably damaging	Het
Gm1322	G	A	2: 67,015,012 (GRCm39)		noncoding transcript	Het
Gm5114	T	A	7: 39,058,289 (GRCm39)	K443N	probably benign	Het
Gnai2	T	C	9: 107,497,386 (GRCm39)	I3V	probably damaging	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Klf15	C	A	6: 90,444,342 (GRCm39)	Q306K	possibly damaging	Het
Ly6a2	A	T	15: 75,005,568 (GRCm39)		noncoding transcript	Het
Maco1	A	T	4: 134,560,619 (GRCm39)	C121*	probably null	Het
Necab2	A	T	8: 120,195,032 (GRCm39)	M295L	probably benign	Het
Nrg1	A	T	8: 32,339,348 (GRCm39)	Y208N	probably damaging	Het
Nup88	A	T	11: 70,849,256 (GRCm39)	Y232*	probably null	Het
Oacyl	A	G	18: 65,883,253 (GRCm39)	R611G	probably benign	Het
Oasl1	T	C	5: 115,074,129 (GRCm39)		probably null	Het
Or2n1e	T	A	17: 38,585,905 (GRCm39)	M81K	probably damaging	Het
Or2y14	G	T	11: 49,405,262 (GRCm39)	G266C	probably damaging	Het
Or52h7	T	C	7: 104,213,583 (GRCm39)	Y52H	probably benign	Het
Or8k25	A	C	2: 86,243,937 (GRCm39)	I153R	possibly damaging	Het
Pate4	A	C	9: 35,519,170 (GRCm39)	S66A	possibly damaging	Het
Pigl	T	A	11: 62,349,309 (GRCm39)	C8*	probably null	Het
Plg	G	A	17: 12,601,070 (GRCm39)	A51T	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppig	A	T	2: 69,564,635 (GRCm39)	D97V	probably damaging	Het
Ppp1r16a	A	G	15: 76,578,846 (GRCm39)	K517E	possibly damaging	Het
Prr16	A	T	18: 51,436,225 (GRCm39)	S235C	probably damaging	Het
Psmd1	G	A	1: 86,017,905 (GRCm39)	R572H	probably damaging	Het
Sbf2	T	C	7: 109,977,135 (GRCm39)		probably benign	Het
Scrt2	A	T	2: 151,924,043 (GRCm39)	Y25F	probably benign	Het
Sema6d	A	T	2: 124,498,756 (GRCm39)	H222L	probably damaging	Het
Septin2	A	G	1: 93,425,174 (GRCm39)	N110S	possibly damaging	Het
Smg5	T	A	3: 88,261,896 (GRCm39)	L723H	probably damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spo11	T	C	2: 172,831,152 (GRCm39)		probably benign	Het
Srarp	T	A	4: 141,163,388 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tm9sf2	A	T	14: 122,363,607 (GRCm39)	Y109F	probably damaging	Het
Tpcn2	A	T	7: 144,809,209 (GRCm39)	M699K	possibly damaging	Het
Trim34a	T	C	7: 103,909,420 (GRCm39)	F289S	possibly damaging	Het
Trim39	T	C	17: 36,571,645 (GRCm39)	H371R	probably damaging	Het
Usp48	T	A	4: 137,348,532 (GRCm39)	I11N	possibly damaging	Het
Zbtb10	T	C	3: 9,345,108 (GRCm39)	F677L	probably benign	Het
Zer1	C	T	2: 30,001,008 (GRCm39)	G138S	probably damaging	Het
Zfp612	A	G	8: 110,816,227 (GRCm39)	K439R	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
R0826:Shpk	UTSW	11	73,094,857 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAAATGACTGTGATCTAGAGCAG -3'
(R):5'- GTGCAGGTTCTGAACGATGC -3'

Sequencing Primer
(F):5'- CTGTGATCTAGAGCAGAGTCTAGCC -3'
(R):5'- CAGGTTCTGAACGATGCCTCTG -3'

Posted On

2017-07-11