Mutagenetix > Incidental Mutation

Incidental Mutation 'R1055:Shpk'

94290

Institutional Source

Beutler Lab

Gene Symbol

Shpk

Ensembl Gene

ENSMUSG00000005951

Gene Name

sedoheptulokinase

Synonyms

4930431K22Rik, Carkl

MMRRC Submission

039145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73090286-73115337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73105945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 266 (M266L)

Ref Sequence

ENSEMBL: ENSMUSP00000006105 (fasta)

Gene Model

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

AlphaFold

Q9D5J6

Predicted Effect

probably benign
Transcript: ENSMUST00000006105
AA Change: M266L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006105
Gene: ENSMUSG00000005951
AA Change: M266L

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

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

0.0619

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,210,724 (GRCm39)	V168A	possibly damaging	Het
A1cf	C	A	19: 31,909,919 (GRCm39)	T237N	probably benign	Het
Actl10	A	T	2: 154,394,588 (GRCm39)	Q180L	probably benign	Het
Adcy1	T	C	11: 7,059,075 (GRCm39)	L327P	probably damaging	Het
Adcy7	T	C	8: 89,044,685 (GRCm39)		probably benign	Het
Ahctf1	G	A	1: 179,591,051 (GRCm39)	T1243I	possibly damaging	Het
Akap6	C	T	12: 52,927,455 (GRCm39)	Q122*	probably null	Het
Apob	G	A	12: 8,044,963 (GRCm39)	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,624,425 (GRCm39)	T539P	probably benign	Het
Cd244a	T	A	1: 171,404,844 (GRCm39)	V232E	probably damaging	Het
Chia1	A	C	3: 106,038,199 (GRCm39)	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,768,500 (GRCm39)	Q5*	probably null	Het
Clrn1	T	A	3: 58,772,531 (GRCm39)	I117F	probably benign	Het
Csmd3	A	G	15: 47,744,933 (GRCm39)	L1354P	probably damaging	Het
Csn2	G	A	5: 87,842,596 (GRCm39)	P144S	possibly damaging	Het
Dcdc2a	T	A	13: 25,286,593 (GRCm39)	M172K	probably damaging	Het
Dnah9	A	T	11: 66,050,837 (GRCm39)	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,922,864 (GRCm39)	S82T	probably benign	Het
Ebf1	A	G	11: 44,523,602 (GRCm39)	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,718,038 (GRCm39)	R504S	probably damaging	Het
Gpank1	T	A	17: 35,343,284 (GRCm39)	S255T	probably damaging	Het
Greb1	T	C	12: 16,732,252 (GRCm39)	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,292,478 (GRCm39)	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,863,270 (GRCm39)	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ilrun	T	C	17: 27,986,910 (GRCm39)	N272S	probably damaging	Het
Khdrbs2	A	T	1: 32,683,238 (GRCm39)		probably benign	Het
Lix1l	G	T	3: 96,528,626 (GRCm39)	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,755,114 (GRCm39)	N141S	probably damaging	Het
Marchf11	A	T	15: 26,309,748 (GRCm39)	D134V	probably damaging	Het
Myo9a	A	T	9: 59,762,653 (GRCm39)	T795S	probably benign	Het
Nhsl1	T	A	10: 18,401,223 (GRCm39)	D782E	probably benign	Het
Nptxr	T	C	15: 79,674,456 (GRCm39)		probably benign	Het
Nrp1	A	G	8: 129,195,079 (GRCm39)	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or12e7	ATTGCTACTC	A	2: 87,287,781 (GRCm39)		probably benign	Het
Or5b3	G	A	19: 13,388,754 (GRCm39)	A274T	probably benign	Het
Pard3	T	C	8: 128,104,761 (GRCm39)	F267S	probably benign	Het
Pomt2	G	A	12: 87,194,254 (GRCm39)	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,104,137 (GRCm39)	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,382,080 (GRCm39)	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,193,558 (GRCm39)	V591D	probably damaging	Het
Sall3	A	C	18: 81,013,007 (GRCm39)	M1143R	probably benign	Het
Scgb1b19	G	T	7: 32,986,768 (GRCm39)	A13S	unknown	Het
Scn1a	T	C	2: 66,168,340 (GRCm39)	T89A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr42e1	T	G	8: 118,390,323 (GRCm39)	N106T	probably damaging	Het
Slc34a1	G	T	13: 55,550,846 (GRCm39)	R139L	probably benign	Het
Smbd1	C	A	16: 32,627,088 (GRCm39)	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,301,485 (GRCm39)	N238S	probably benign	Het
Tmprss2	T	C	16: 97,377,462 (GRCm39)	N212D	probably damaging	Het
Uap1	G	T	1: 169,984,480 (GRCm39)		probably benign	Het
Ugt1a6a	A	G	1: 88,066,736 (GRCm39)	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,477,326 (GRCm39)	W355*	probably null	Het
Vmn2r86	T	A	10: 130,282,226 (GRCm39)	S797C	probably damaging	Het
Wiz	A	G	17: 32,606,616 (GRCm39)	S40P	probably damaging	Het
Zfand6	A	G	7: 84,265,181 (GRCm39)		probably benign	Het
Zfp280d	G	A	9: 72,236,449 (GRCm39)		probably null	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
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'- AAAAGGCAGGCTTTCCTATCCACC -3'
(R):5'- TGCACCTTTCCCTGACAAGTACG -3'

Sequencing Primer
(F):5'- CTTCTCCCCGACATTGCAGAG -3'
(R):5'- tgctctgcctctgagcc -3'

Posted On

2014-01-05