Mutagenetix > Incidental Mutation

Incidental Mutation 'R6930:Chst15'

539949

Institutional Source

Beutler Lab

Gene Symbol

Chst15

Ensembl Gene

ENSMUSG00000030930

Gene Name

carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15

Synonyms

MAd5, GalNAcS-6ST, MAd5, 4631426J05Rik

MMRRC Submission

045046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132235780-132317228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132269030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 259 (I259V)

Ref Sequence

ENSEMBL: ENSMUSP00000079105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077472] [ENSMUST00000080215] [ENSMUST00000124096]

AlphaFold

Q91XQ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077472
AA Change: I259V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: I259V

Domain	Start	End	E-Value	Type
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:Sulfotransfer_3	254	502	4.2e-10	PFAM
Pfam:Sulfotransfer_1	369	524	1.1e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080215
AA Change: I259V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: I259V

Domain	Start	End	E-Value	Type
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:Sulfotransfer_3	254	499	7.9e-9	PFAM
Pfam:Sulfotransfer_1	369	524	1.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Meta Mutation Damage Score

0.0739

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size and abnormal bone marrow-derived mast cell morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,516,563 (GRCm38)	D156E	probably benign	Het
Adam17	A	T	12: 21,353,948 (GRCm38)	V99E	probably damaging	Het
Akr1e1	T	C	13: 4,602,715 (GRCm38)	D41G	probably damaging	Het
Alcam	T	C	16: 52,305,655 (GRCm38)	I100V	probably benign	Het
Atr	T	C	9: 95,866,635 (GRCm38)	I411T	probably benign	Het
Bbs4	T	C	9: 59,323,481 (GRCm38)	S453G	probably benign	Het
Brdt	C	T	5: 107,359,215 (GRCm38)	L494F	probably benign	Het
Ccser1	T	C	6: 62,380,025 (GRCm38)	S816P	probably benign	Het
Cdk10	T	C	8: 123,230,608 (GRCm38)	I157T	probably damaging	Het
Ceacam5	G	A	7: 17,750,834 (GRCm38)		probably null	Het
Cracdl	A	T	1: 37,624,945 (GRCm38)	I624N	possibly damaging	Het
Csmd1	A	T	8: 16,092,395 (GRCm38)	M1498K	probably damaging	Het
D630045J12Rik	T	C	6: 38,158,216 (GRCm38)	D1343G	probably damaging	Het
Denr	T	C	5: 123,908,187 (GRCm38)	Y27H	probably benign	Het
Dop1a	T	C	9: 86,531,772 (GRCm38)		probably null	Het
Epg5	T	C	18: 78,014,163 (GRCm38)	F1819S	probably damaging	Het
Flg2	T	A	3: 93,201,335 (GRCm38)	Y223*	probably null	Het
Fry	T	C	5: 150,428,230 (GRCm38)	L1733P	probably benign	Het
Gabrb2	T	C	11: 42,597,613 (GRCm38)	V302A	probably damaging	Het
Gimap9	G	A	6: 48,677,667 (GRCm38)	D53N	probably damaging	Het
Gje1	G	T	10: 14,718,142 (GRCm38)	L3I	possibly damaging	Het
Gm49383	G	T	12: 69,192,812 (GRCm38)	A645E	probably damaging	Het
Gm8947	G	A	1: 151,192,596 (GRCm38)	G60D	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184 (GRCm38)	R47H	probably damaging	Het
Gys2	A	G	6: 142,459,380 (GRCm38)		probably null	Het
Hace1	A	G	10: 45,618,502 (GRCm38)	H136R	probably damaging	Het
Herc3	T	G	6: 58,916,459 (GRCm38)	V902G	probably damaging	Het
Hspbp1	T	C	7: 4,684,607 (GRCm38)	R2G	probably benign	Het
Iqch	T	A	9: 63,480,574 (GRCm38)	K811N	possibly damaging	Het
Kmt2a	A	G	9: 44,842,665 (GRCm38)		probably benign	Het
Lonrf2	A	T	1: 38,804,336 (GRCm38)	V372D	probably benign	Het
Lpin2	T	C	17: 71,244,791 (GRCm38)	Y729H	probably damaging	Het
Lrrc32	A	G	7: 98,499,264 (GRCm38)	N417S	possibly damaging	Het
Malrd1	T	A	2: 15,797,667 (GRCm38)	C1064S	unknown	Het
Mast3	G	A	8: 70,799,471 (GRCm38)	R20*	probably null	Het
Mypn	A	C	10: 63,116,939 (GRCm38)	I174S	probably damaging	Het
Nrg1	G	A	8: 31,818,506 (GRCm38)	T505M	probably damaging	Het
Or13p8	A	G	4: 118,727,141 (GRCm38)	K298R	probably damaging	Het
Or6y1	A	G	1: 174,449,111 (GRCm38)	I163V	probably damaging	Het
Or7a42	A	G	10: 78,955,781 (GRCm38)	D192G	possibly damaging	Het
Or7e178	A	G	9: 20,314,099 (GRCm38)	Y266H	probably damaging	Het
Phf3	T	C	1: 30,811,877 (GRCm38)	E1132G	probably damaging	Het
Pla2g4d	A	T	2: 120,270,633 (GRCm38)	M521K	probably damaging	Het
Plekhg1	A	G	10: 3,963,770 (GRCm38)	H1164R	possibly damaging	Het
Plxnb2	A	G	15: 89,160,389 (GRCm38)	V1218A	probably benign	Het
Pold1	A	G	7: 44,542,206 (GRCm38)	S119P	probably benign	Het
Pole	T	A	5: 110,293,290 (GRCm38)	D203E	probably benign	Het
Rapgefl1	T	A	11: 98,847,121 (GRCm38)	L387Q	probably damaging	Het
Rbm33	T	C	5: 28,352,506 (GRCm38)	I199T	probably benign	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Rufy1	C	A	11: 50,398,380 (GRCm38)	R545L	probably benign	Het
Ryr3	T	A	2: 112,860,354 (GRCm38)	D1117V	probably damaging	Het
Sap130	T	C	18: 31,682,088 (GRCm38)	V621A	possibly damaging	Het
Sparcl1	T	A	5: 104,087,074 (GRCm38)	Y525F	probably damaging	Het
Spon2	A	G	5: 33,216,427 (GRCm38)	V180A	probably benign	Het
Trav10n	G	A	14: 53,122,490 (GRCm38)	V75M	probably benign	Het
Ttc34	T	C	4: 154,839,086 (GRCm38)	L84P	probably damaging	Het
Vmn1r23	C	T	6: 57,926,145 (GRCm38)	R216K	probably benign	Het
Vmn2r61	A	G	7: 42,299,940 (GRCm38)	T595A	probably benign	Het
Vmn2r66	T	A	7: 85,012,008 (GRCm38)	I5F	possibly damaging	Het
Zfp879	C	T	11: 50,833,012 (GRCm38)	G406R	probably damaging	Het
Zic2	A	T	14: 122,476,457 (GRCm38)	D261V	probably damaging	Het

Other mutations in Chst15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Chst15	APN	7	132,270,507 (GRCm38)	missense	probably benign	0.22
IGL01879:Chst15	APN	7	132,270,265 (GRCm38)	missense	possibly damaging	0.94
IGL02355:Chst15	APN	7	132,266,672 (GRCm38)	missense	probably benign	0.26
IGL02362:Chst15	APN	7	132,266,672 (GRCm38)	missense	probably benign	0.26
IGL02826:Chst15	APN	7	132,266,746 (GRCm38)	missense	probably damaging	1.00
IGL02860:Chst15	APN	7	132,269,102 (GRCm38)	missense	probably benign
IGL02972:Chst15	APN	7	132,269,173 (GRCm38)	missense	probably damaging	1.00
IGL03266:Chst15	APN	7	132,270,076 (GRCm38)	missense	probably damaging	1.00
IGL03331:Chst15	APN	7	132,262,713 (GRCm38)	missense	probably damaging	1.00
IGL03375:Chst15	APN	7	132,270,457 (GRCm38)	nonsense	probably null
R1476:Chst15	UTSW	7	132,270,273 (GRCm38)	missense	possibly damaging	0.95
R1501:Chst15	UTSW	7	132,269,069 (GRCm38)	nonsense	probably null
R1518:Chst15	UTSW	7	132,270,126 (GRCm38)	missense	probably damaging	1.00
R1943:Chst15	UTSW	7	132,262,850 (GRCm38)	splice site	probably null
R2164:Chst15	UTSW	7	132,270,385 (GRCm38)	missense	probably damaging	0.97
R3947:Chst15	UTSW	7	132,247,875 (GRCm38)	missense	probably damaging	1.00
R4921:Chst15	UTSW	7	132,247,884 (GRCm38)	missense	probably benign	0.01
R5817:Chst15	UTSW	7	132,269,147 (GRCm38)	missense	probably damaging	0.99
R5817:Chst15	UTSW	7	132,269,144 (GRCm38)	missense	probably damaging	0.99
R5917:Chst15	UTSW	7	132,270,517 (GRCm38)	missense	probably benign
R7159:Chst15	UTSW	7	132,270,258 (GRCm38)	missense	probably damaging	1.00
R7911:Chst15	UTSW	7	132,270,522 (GRCm38)	missense	probably benign	0.12
R8282:Chst15	UTSW	7	132,270,150 (GRCm38)	missense	probably benign
R8342:Chst15	UTSW	7	132,247,886 (GRCm38)	missense	probably benign	0.15
R9011:Chst15	UTSW	7	132,270,517 (GRCm38)	missense	probably benign
R9093:Chst15	UTSW	7	132,268,917 (GRCm38)	critical splice donor site	probably null
R9329:Chst15	UTSW	7	132,266,791 (GRCm38)	missense	possibly damaging	0.46
R9352:Chst15	UTSW	7	132,270,528 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGCCATGCCTCTGAATC -3'
(R):5'- TATGAGGAGTTCTCGGGCAG -3'

Sequencing Primer
(F):5'- AGAACCTCATGCCGCTGTG -3'
(R):5'- AGTTCTCGGGCAGGAACAC -3'

Posted On

2018-11-06