Mutagenetix > Incidental Mutation

Incidental Mutation 'R4015:Sult6b2'

311903

Institutional Source

Beutler Lab

Gene Symbol

Sult6b2

Ensembl Gene

ENSMUSG00000048473

Gene Name

sulfotransferase family 6B, member 2

Synonyms

LOC330440, Gm766

MMRRC Submission

040952-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4015 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142731507-142750192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142735988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 202 (N202I)

Ref Sequence

ENSEMBL: ENSMUSP00000107398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111768] [ENSMUST00000156662]

AlphaFold

B7ZWN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111768
AA Change: N202I

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107398
Gene: ENSMUSG00000048473
AA Change: N202I

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	37	276	1.5e-64	PFAM
Pfam:Sulfotransfer_3	38	200	1.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156662

SMART Domains

Protein: ENSMUSP00000138527
Gene: ENSMUSG00000048473

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	74	157	5.6e-21	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,151,135 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,358,331 (GRCm39)	D580G	probably damaging	Het
Ccdc66	A	G	14: 27,205,793 (GRCm39)	I898T	probably damaging	Het
Celf3	T	C	3: 94,394,505 (GRCm39)	V202A	probably benign	Het
Cfap161	C	T	7: 83,429,479 (GRCm39)	G180S	probably benign	Het
Col5a2	T	C	1: 45,442,631 (GRCm39)	I605V	probably benign	Het
Coq6	A	G	12: 84,413,671 (GRCm39)	H67R	probably benign	Het
Cyp2b19	T	C	7: 26,461,768 (GRCm39)	F196S	probably damaging	Het
Cyp4a14	G	T	4: 115,348,331 (GRCm39)	P382Q	probably damaging	Het
Dctpp1	G	A	7: 126,856,285 (GRCm39)	R146C	probably damaging	Het
Ddias	T	C	7: 92,509,069 (GRCm39)	K282R	probably benign	Het
Dnah10	A	G	5: 124,854,990 (GRCm39)	Q1965R	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Igf2bp2	T	C	16: 21,882,426 (GRCm39)	N425S	probably damaging	Het
Lrp1b	A	G	2: 40,692,996 (GRCm39)	F3401L	possibly damaging	Het
Mocs2	T	C	13: 114,957,334 (GRCm39)		probably benign	Het
Muc5b	G	A	7: 141,417,367 (GRCm39)	V3438M	probably benign	Het
Myo3a	A	G	2: 22,468,182 (GRCm39)	R479G	possibly damaging	Het
Nalcn	T	G	14: 123,723,799 (GRCm39)	E422A	probably damaging	Het
Pcdh17	T	C	14: 84,684,547 (GRCm39)	V338A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbm12b1	T	C	4: 12,145,491 (GRCm39)	S488P	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Srcap	C	A	7: 127,124,595 (GRCm39)	P255Q	probably benign	Het
Tcf7l1	A	G	6: 72,613,382 (GRCm39)		probably benign	Het
Tef	T	C	15: 81,707,806 (GRCm39)	V261A	probably damaging	Het
Trio	C	T	15: 27,744,187 (GRCm39)	V2582I	possibly damaging	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Uggt2	T	C	14: 119,263,845 (GRCm39)	N1062D	possibly damaging	Het
Unc13b	G	A	4: 43,237,801 (GRCm39)	G3441R	probably damaging	Het
Vmn1r214	G	A	13: 23,219,520 (GRCm39)	C338Y	probably benign	Het
Wdr70	A	T	15: 8,108,698 (GRCm39)	C149*	probably null	Het
Zfp867	A	G	11: 59,354,520 (GRCm39)	F270L	probably damaging	Het

Other mutations in Sult6b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Sult6b2	APN	6	142,743,563 (GRCm39)	splice site	probably benign
IGL00694:Sult6b2	APN	6	142,736,015 (GRCm39)	missense	possibly damaging	0.92
IGL01146:Sult6b2	APN	6	142,750,034 (GRCm39)	missense	probably benign	0.00
IGL01886:Sult6b2	APN	6	142,735,852 (GRCm39)	critical splice donor site	probably null
IGL02385:Sult6b2	APN	6	142,747,498 (GRCm39)	missense	probably benign	0.01
IGL02477:Sult6b2	APN	6	142,747,447 (GRCm39)	missense	probably damaging	1.00
R0088:Sult6b2	UTSW	6	142,743,675 (GRCm39)	missense	probably damaging	1.00
R2850:Sult6b2	UTSW	6	142,743,613 (GRCm39)	missense	probably benign	0.18
R4667:Sult6b2	UTSW	6	142,747,421 (GRCm39)	nonsense	probably null
R5172:Sult6b2	UTSW	6	142,743,657 (GRCm39)	missense	probably damaging	1.00
R5973:Sult6b2	UTSW	6	142,736,021 (GRCm39)	missense	probably benign	0.01
R6152:Sult6b2	UTSW	6	142,750,102 (GRCm39)	missense	probably benign	0.00
R6893:Sult6b2	UTSW	6	142,750,025 (GRCm39)	missense	possibly damaging	0.63
R7667:Sult6b2	UTSW	6	142,732,085 (GRCm39)	missense	probably benign	0.10
R7853:Sult6b2	UTSW	6	142,747,524 (GRCm39)	missense	not run
R8071:Sult6b2	UTSW	6	142,735,868 (GRCm39)	missense	probably damaging	1.00
R8225:Sult6b2	UTSW	6	142,750,055 (GRCm39)	missense	probably benign	0.00
R8344:Sult6b2	UTSW	6	142,736,022 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ATCCGCAGCAAAAGCCTTAG -3'
(R):5'- CTGGAACCAAATTAAGAGAGAACTC -3'

Sequencing Primer
(F):5'- AGCTGCAGCCCCTTCCTG -3'
(R):5'- TAGTGAGTTCTAGACCACCCAGG -3'

Posted On

2015-04-29