Mutagenetix > Incidental Mutation

Incidental Mutation 'R2248:Chst8'

240950

Institutional Source

Beutler Lab

Gene Symbol

Chst8

Ensembl Gene

ENSMUSG00000060402

Gene Name

carbohydrate sulfotransferase 8

Synonyms

1500011J21Rik, GalNAc4ST-1

MMRRC Submission

040248-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34373893-34512136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34447597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 7 (T7K)

Ref Sequence

ENSEMBL: ENSMUSP00000123498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078686] [ENSMUST00000154629] [ENSMUST00000205259]

AlphaFold

Q8BQ86

Predicted Effect

probably benign
Transcript: ENSMUST00000078686
AA Change: T7K

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077752
Gene: ENSMUSG00000060402
AA Change: T7K

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	98	108	N/A	INTRINSIC
Pfam:Sulfotransfer_2	175	410	4.1e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135295

Predicted Effect

probably damaging
Transcript: ENSMUST00000154629
AA Change: T7K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123498
Gene: ENSMUSG00000060402
AA Change: T7K

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205259
AA Change: T7K

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205390

Meta Mutation Damage Score

0.1255

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Male mice homozygous for a null allele show higher luteinizing hormone and testosterone levels, early sexual maturation and enlarged seminal vesicles; females show higher LH, estrogen and progesterone levels, early sexual maturation, enlarged uteri, a prolonged estrous cycle and increased fecundity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,323,476 (GRCm39)		probably benign	Het
Afp	A	G	5: 90,649,429 (GRCm39)	D332G	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,589,114 (GRCm39)		probably benign	Het
Aldh1a2	A	T	9: 71,123,144 (GRCm39)	I6F	possibly damaging	Het
Alg6	C	T	4: 99,626,444 (GRCm39)	A84V	probably damaging	Het
Ank	T	A	15: 27,562,797 (GRCm39)		probably null	Het
Ano5	A	T	7: 51,243,537 (GRCm39)	M837L	probably benign	Het
Arl8b	A	G	6: 108,760,304 (GRCm39)	Y30C	probably benign	Het
Bfsp1	A	T	2: 143,669,572 (GRCm39)		probably null	Het
Cdhr1	C	G	14: 36,803,334 (GRCm39)	V581L	probably benign	Het
Clca3b	T	C	3: 144,530,980 (GRCm39)	K790R	probably benign	Het
Clta	A	G	4: 44,012,852 (GRCm39)	N21D	probably damaging	Het
Col6a4	T	G	9: 105,957,158 (GRCm39)	E222A	probably benign	Het
Dcc	G	T	18: 71,959,239 (GRCm39)	Q178K	probably benign	Het
Dpysl3	T	C	18: 43,491,358 (GRCm39)	D140G	possibly damaging	Het
Dthd1	A	T	5: 63,007,243 (GRCm39)	D648V	probably damaging	Het
Eva1c	A	G	16: 90,628,213 (GRCm39)	N18S	probably benign	Het
Flnc	A	G	6: 29,451,400 (GRCm39)	H1538R	probably damaging	Het
Foxn3	T	C	12: 99,162,815 (GRCm39)	E362G	probably benign	Het
Frk	C	A	10: 34,484,527 (GRCm39)	T500K	probably benign	Het
Glipr1l1	A	G	10: 111,898,192 (GRCm39)	E99G	probably benign	Het
Gphn	T	C	12: 78,501,595 (GRCm39)	L120P	probably damaging	Het
Gpr152	T	C	19: 4,193,805 (GRCm39)	S449P	probably benign	Het
Greb1	T	A	12: 16,730,379 (GRCm39)	I1655F	possibly damaging	Het
Hectd1	G	T	12: 51,853,254 (GRCm39)	T89N	probably damaging	Het
Helz2	A	C	2: 180,875,226 (GRCm39)	I1756S	probably benign	Het
Hydin	G	T	8: 111,304,835 (GRCm39)	R3825L	probably benign	Het
Ifi207	G	A	1: 173,564,036 (GRCm39)		probably benign	Het
Itpr3	A	T	17: 27,334,033 (GRCm39)	E2035V	probably damaging	Het
Khnyn	T	A	14: 56,124,195 (GRCm39)	S150T	probably benign	Het
Kif21b	T	C	1: 136,100,704 (GRCm39)	I1595T	probably damaging	Het
Lgsn	A	T	1: 31,242,607 (GRCm39)	T230S	possibly damaging	Het
Limch1	G	T	5: 67,201,742 (GRCm39)	G838V	probably damaging	Het
Lrp2	T	A	2: 69,341,354 (GRCm39)	D942V	probably damaging	Het
Lrrc31	T	A	3: 30,744,050 (GRCm39)	T153S	possibly damaging	Het
Mal2	T	A	15: 54,451,732 (GRCm39)	I51N	probably damaging	Het
Matcap2	A	G	9: 22,355,410 (GRCm39)	T482A	probably benign	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Mycbp2	T	A	14: 103,407,295 (GRCm39)	Q385L	possibly damaging	Het
Nav3	T	A	10: 109,532,088 (GRCm39)	D2117V	probably damaging	Het
Ntn1	T	C	11: 68,168,398 (GRCm39)	N353S	possibly damaging	Het
Oas1c	T	C	5: 120,940,926 (GRCm39)	E289G	possibly damaging	Het
Or2m13	A	G	16: 19,225,944 (GRCm39)	V274A	probably damaging	Het
Or4a81	C	A	2: 89,619,524 (GRCm39)	M57I	possibly damaging	Het
Or5w17	T	C	2: 87,584,287 (GRCm39)	I17V	probably null	Het
Plk1	A	G	7: 121,768,044 (GRCm39)		probably benign	Het
Pms2	G	A	5: 143,853,324 (GRCm39)	V230M	probably damaging	Het
Pole3	C	A	4: 62,443,250 (GRCm39)		probably benign	Het
Ppp2r5c	T	C	12: 110,452,357 (GRCm39)	F22S	probably benign	Het
Prp2rt	C	A	13: 97,235,406 (GRCm39)	V114F	possibly damaging	Het
Ptcd3	A	T	6: 71,871,269 (GRCm39)		probably null	Het
Ptprq	A	T	10: 107,478,931 (GRCm39)		probably null	Het
Rab18	T	A	18: 6,788,629 (GRCm39)	C199S	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Sacs	A	G	14: 61,450,251 (GRCm39)	N4099S	probably damaging	Het
Sh3yl1	T	A	12: 30,992,869 (GRCm39)		probably null	Het
Slco1c1	T	A	6: 141,492,415 (GRCm39)	I217N	probably damaging	Het
Syne2	C	T	12: 76,143,678 (GRCm39)	T6241I	probably damaging	Het
Tas2r119	T	C	15: 32,178,297 (GRCm39)	F288L	possibly damaging	Het
Tmod2	G	T	9: 75,499,931 (GRCm39)	T107N	probably benign	Het
Trappc6b	T	C	12: 59,097,167 (GRCm39)	T52A	probably damaging	Het
Tsen54	A	G	11: 115,706,232 (GRCm39)	E122G	probably damaging	Het
Tspear	A	G	10: 77,709,103 (GRCm39)	N443S	probably damaging	Het
Unc80	A	G	1: 66,662,365 (GRCm39)		probably benign	Het
Virma	T	A	4: 11,518,927 (GRCm39)	Y725N	probably damaging	Het
Vwa7	G	A	17: 35,238,019 (GRCm39)	D207N	probably benign	Het

Other mutations in Chst8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02078:Chst8	APN	7	34,374,759 (GRCm39)	missense	possibly damaging	0.66
R0306:Chst8	UTSW	7	34,374,723 (GRCm39)	missense	probably benign
R1445:Chst8	UTSW	7	34,447,593 (GRCm39)	missense	possibly damaging	0.95
R1510:Chst8	UTSW	7	34,374,693 (GRCm39)	missense	probably benign	0.00
R2022:Chst8	UTSW	7	34,374,589 (GRCm39)	missense	possibly damaging	0.92
R2262:Chst8	UTSW	7	34,375,435 (GRCm39)	missense	probably benign
R4463:Chst8	UTSW	7	34,374,645 (GRCm39)	missense	probably damaging	0.98
R4764:Chst8	UTSW	7	34,375,149 (GRCm39)	missense	probably damaging	0.98
R5379:Chst8	UTSW	7	34,375,279 (GRCm39)	missense	probably damaging	1.00
R5521:Chst8	UTSW	7	34,374,670 (GRCm39)	missense	probably benign
R5679:Chst8	UTSW	7	34,374,729 (GRCm39)	missense	probably damaging	1.00
R6412:Chst8	UTSW	7	34,375,504 (GRCm39)	missense	probably benign	0.03
R7247:Chst8	UTSW	7	34,375,361 (GRCm39)	missense	probably damaging	1.00
R7282:Chst8	UTSW	7	34,447,628 (GRCm39)	critical splice acceptor site	probably null
R7952:Chst8	UTSW	7	34,374,919 (GRCm39)	missense	probably damaging	1.00
R8261:Chst8	UTSW	7	34,447,579 (GRCm39)	missense	possibly damaging	0.94
R9507:Chst8	UTSW	7	34,447,496 (GRCm39)	nonsense	probably null
R9600:Chst8	UTSW	7	34,374,646 (GRCm39)	missense	possibly damaging	0.66
Z1186:Chst8	UTSW	7	34,447,606 (GRCm39)	missense	probably damaging	0.98
Z1191:Chst8	UTSW	7	34,447,606 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTGTTTACAAGGGTTACCGTCAC -3'
(R):5'- GAAGGTAAGTCAATGTCACGTGAC -3'

Sequencing Primer
(F):5'- GGTTACCGTCACCCAGC -3'
(R):5'- CAGGGAGCTTAGTTCACTGATATCC -3'

Posted On

2014-10-15