Mutagenetix > Incidental Mutations

Incidental Mutation 'R9352:Chst15'

708134

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132235780-132317228 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 132270528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 8 (C8F)

Ref Sequence

ENSEMBL: ENSMUSP00000076682 (fasta)

Gene Model

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

AlphaFold

Q91XQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000077472
AA Change: C8F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076682
Gene: ENSMUSG00000030930
AA Change: C8F

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

probably damaging
Transcript: ENSMUST00000080215
AA Change: C8F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079105
Gene: ENSMUSG00000030930
AA Change: C8F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,334,682	F1500S	probably damaging	Het
Adamtsl3	A	T	7: 82,442,448	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,757,392	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,306,712	D537Y	probably benign	Het
Anxa4	C	T	6: 86,765,793		probably benign	Het
Arfgap3	T	A	15: 83,306,926	I464L	possibly damaging	Het
Asb2	C	T	12: 103,330,439	V320I	probably damaging	Het
Axl	T	C	7: 25,763,327	T659A	possibly damaging	Het
Bbof1	A	G	12: 84,414,620	H139R	probably benign	Het
Birc6	G	A	17: 74,658,352		probably null	Het
Cdh23	G	A	10: 60,307,527	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,160,471	F126Y	probably damaging	Het
Chrnb4	T	A	9: 55,043,883	D32V	probably benign	Het
Cntnap5c	A	G	17: 58,092,468	I439V	probably benign	Het
Crisp2	T	A	17: 40,767,309	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,972,931	T354M	probably benign	Het
Cul1	T	A	6: 47,502,492	S231T	probably benign	Het
Cyp27a1	C	T	1: 74,713,761	T44M	possibly damaging	Het
Dgkg	T	C	16: 22,579,831	D232G	probably damaging	Het
Dnah1	G	T	14: 31,316,663	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,929,088	V304A	probably benign	Het
Dok6	T	C	18: 89,474,009	N148S	probably benign	Het
Fam71e2	T	A	7: 4,758,606	Y369F		Het
Fnta	A	T	8: 26,011,091	W134R	probably damaging	Het
Gm32742	T	G	9: 51,141,244	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,486,361	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,432,488	N486D	probably benign	Het
H2-Q4	T	G	17: 35,382,933	F257C	probably damaging	Het
Hfe	A	G	13: 23,706,136	V218A	probably benign	Het
Htr2b	A	G	1: 86,099,572	V404A	probably benign	Het
Hyou1	T	A	9: 44,389,629		probably null	Het
Ikbkb	T	C	8: 22,660,428	D746G	probably benign	Het
Ikzf4	T	C	10: 128,636,754	N251S	probably benign	Het
Il23r	A	C	6: 67,426,608	N436K	probably damaging	Het
Impg2	A	T	16: 56,252,107	I301L	probably benign	Het
Irf4	A	T	13: 30,752,723	M146L	probably benign	Het
Iws1	G	A	18: 32,080,160	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,972,580	S665G	probably damaging	Het
Kiz	T	C	2: 146,953,007	S596P	probably damaging	Het
Kpna2	T	C	11: 106,989,466	E452G	probably damaging	Het
Lclat1	A	G	17: 73,161,942	Y39C	probably damaging	Het
Lig3	A	G	11: 82,796,145	S705G	probably benign	Het
Lrp1b	T	C	2: 40,858,426	D3134G		Het
Map3k8	C	T	18: 4,349,170	M49I	probably benign	Het
Mep1b	A	G	18: 21,076,374	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,966,707	S342R	probably benign	Het
Mthfd2l	G	T	5: 90,961,313	V201L	possibly damaging	Het
Naip6	G	T	13: 100,301,385	T371K	possibly damaging	Het
Naxd	T	C	8: 11,505,504	I104T	probably damaging	Het
Nbeal2	T	A	9: 110,627,848	I2361F	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr145	A	G	9: 37,897,416	E4G	probably benign	Het
Olfr23	A	G	11: 73,940,644	T133A	probably benign	Het
Olfr790	A	T	10: 129,501,495	M196L	probably benign	Het
Olfr894	T	G	9: 38,219,387	L185R	probably damaging	Het
Pga5	C	T	19: 10,669,533	G303S	probably damaging	Het
Polq	T	C	16: 37,041,890	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 20,965,237		probably null	Het
Prrc1	A	G	18: 57,389,245	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,835,523	V116D	probably damaging	Het
Qpctl	C	T	7: 19,144,674	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,628,856	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,317,705	N385K	probably benign	Het
Rbbp8nl	A	G	2: 180,279,260	S444P	probably benign	Het
Sf3a1	G	A	11: 4,160,494	A3T	unknown	Het
Slc1a4	A	G	11: 20,332,025	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,451,041		probably null	Het
Slc30a5	A	G	13: 100,803,872	I702T	probably benign	Het
Slc36a4	T	A	9: 15,722,023		probably null	Het
Slf2	A	G	19: 44,943,518	R671G	probably null	Het
Smarcc1	A	G	9: 110,206,152	K881R	probably null	Het
Srsf11	A	G	3: 158,012,199	V414A	unknown	Het
Tcn2	T	C	11: 3,923,446	N300S	probably damaging	Het
Tecta	T	C	9: 42,337,851	K1905R	probably damaging	Het
Tex30	T	G	1: 44,091,593		probably null	Het
Tktl2	A	T	8: 66,513,322	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,749,674	Q183K	probably benign	Het
Trib2	A	C	12: 15,815,412	I30R	probably benign	Het
Tti1	A	G	2: 158,000,772	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313		probably null	Het
Vmn2r112	A	G	17: 22,603,498	T386A	probably damaging	Het
Vps16	T	C	2: 130,441,903		probably null	Het
Zan	T	G	5: 137,436,483	N2186T	unknown	Het
Zdhhc11	C	T	13: 73,973,681	R104*	probably null	Het
Zfp318	T	G	17: 46,410,358	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,900,322	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,891,474	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,242,361	T266A	probably benign	Het

Other mutations in Chst15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Chst15	APN	7	132270507	missense	probably benign	0.22
IGL01879:Chst15	APN	7	132270265	missense	possibly damaging	0.94
IGL02355:Chst15	APN	7	132266672	missense	probably benign	0.26
IGL02362:Chst15	APN	7	132266672	missense	probably benign	0.26
IGL02826:Chst15	APN	7	132266746	missense	probably damaging	1.00
IGL02860:Chst15	APN	7	132269102	missense	probably benign
IGL02972:Chst15	APN	7	132269173	missense	probably damaging	1.00
IGL03266:Chst15	APN	7	132270076	missense	probably damaging	1.00
IGL03331:Chst15	APN	7	132262713	missense	probably damaging	1.00
IGL03375:Chst15	APN	7	132270457	nonsense	probably null
R1476:Chst15	UTSW	7	132270273	missense	possibly damaging	0.95
R1501:Chst15	UTSW	7	132269069	nonsense	probably null
R1518:Chst15	UTSW	7	132270126	missense	probably damaging	1.00
R1943:Chst15	UTSW	7	132262850	splice site	probably null
R2164:Chst15	UTSW	7	132270385	missense	probably damaging	0.97
R3947:Chst15	UTSW	7	132247875	missense	probably damaging	1.00
R4921:Chst15	UTSW	7	132247884	missense	probably benign	0.01
R5817:Chst15	UTSW	7	132269144	missense	probably damaging	0.99
R5817:Chst15	UTSW	7	132269147	missense	probably damaging	0.99
R5917:Chst15	UTSW	7	132270517	missense	probably benign
R6930:Chst15	UTSW	7	132269030	missense	possibly damaging	0.95
R7159:Chst15	UTSW	7	132270258	missense	probably damaging	1.00
R7911:Chst15	UTSW	7	132270522	missense	probably benign	0.12
R8282:Chst15	UTSW	7	132270150	missense	probably benign
R8342:Chst15	UTSW	7	132247886	missense	probably benign	0.15
R9011:Chst15	UTSW	7	132270517	missense	probably benign
R9093:Chst15	UTSW	7	132268917	critical splice donor site	probably null
R9329:Chst15	UTSW	7	132266791	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AGACCAGGCTACATCGCTTC -3'
(R):5'- TGAACCAAAGACTGTGCCTC -3'

Sequencing Primer
(F):5'- AAACCCACCCCAGTTTTCATTG -3'
(R):5'- AAAGACTGTGCCTCATTCTCTAGTG -3'

Posted On

2022-04-18