Mutagenetix > Incidental Mutation

Incidental Mutation 'R5172:Sult6b2'

398807

Institutional Source

Beutler Lab

Gene Symbol

Sult6b2

Ensembl Gene

ENSMUSG00000048473

Gene Name

sulfotransferase family 6B, member 2

Synonyms

LOC330440, Gm766

MMRRC Submission

042752-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142731507-142750192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142743657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 123 (V123D)

Ref Sequence

ENSEMBL: ENSMUSP00000138527 (fasta)

Gene Model

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

AlphaFold

B7ZWN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000111768
AA Change: V123D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107398
Gene: ENSMUSG00000048473
AA Change: V123D

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 damaging
Transcript: ENSMUST00000156662
AA Change: V123D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138527
Gene: ENSMUSG00000048473
AA Change: V123D

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,266,434 (GRCm39)	Y52C	probably damaging	Het
Acmsd	C	T	1: 127,681,585 (GRCm39)	R183*	probably null	Het
Anxa2	T	A	9: 69,392,533 (GRCm39)	D127E	probably damaging	Het
Atrnl1	T	A	19: 57,673,945 (GRCm39)	Y593*	probably null	Het
Atxn2	C	T	5: 121,933,098 (GRCm39)		probably null	Het
Ccl6	A	T	11: 83,480,169 (GRCm39)	Y66N	probably damaging	Het
Ccng1	A	G	11: 40,642,113 (GRCm39)	V223A	probably benign	Het
Cfap44	T	C	16: 44,269,556 (GRCm39)	Y1187H	probably benign	Het
Cfc1	A	T	1: 34,575,011 (GRCm39)	I10F	probably benign	Het
Chrne	T	A	11: 70,506,352 (GRCm39)	T365S	probably benign	Het
Clec4b1	G	T	6: 123,048,414 (GRCm39)	R183L	probably benign	Het
Csmd2	A	C	4: 128,371,190 (GRCm39)	Q1926P	probably benign	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dzip1	T	A	14: 119,124,563 (GRCm39)	Q570L	probably damaging	Het
Fam149a	T	A	8: 45,797,690 (GRCm39)	Q507L	probably damaging	Het
Frem3	T	C	8: 81,339,195 (GRCm39)	V496A	probably benign	Het
Fryl	A	T	5: 73,259,016 (GRCm39)	D589E	possibly damaging	Het
Hemk1	T	C	9: 107,206,631 (GRCm39)	E4G	possibly damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnh7	T	C	2: 62,569,508 (GRCm39)	D796G	possibly damaging	Het
Lemd2	G	T	17: 27,414,356 (GRCm39)	S326*	probably null	Het
Mdc1	T	C	17: 36,163,982 (GRCm39)	S1177P	probably benign	Het
Mfsd4b4	A	G	10: 39,770,083 (GRCm39)	F78S	probably damaging	Het
Mmgt2	T	A	11: 62,555,954 (GRCm39)	F101I	possibly damaging	Het
Myo18a	T	C	11: 77,714,924 (GRCm39)	L785P	probably damaging	Het
Nup155	C	A	15: 8,139,026 (GRCm39)	Q33K	probably benign	Het
Or52r1c	T	C	7: 102,734,884 (GRCm39)	L48P	probably damaging	Het
Or5w19	A	G	2: 87,699,171 (GRCm39)	T279A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pank1	A	T	19: 34,818,202 (GRCm39)	C112*	probably null	Het
Pcmtd1	T	A	1: 7,233,485 (GRCm39)	M23K	probably benign	Het
Rere	A	T	4: 150,654,726 (GRCm39)	R419S	unknown	Het
Rpf1	T	C	3: 146,218,050 (GRCm39)	R155G	possibly damaging	Het
Sema7a	A	G	9: 57,864,961 (GRCm39)	T421A	probably benign	Het
Sharpin	A	G	15: 76,231,741 (GRCm39)	S323P	probably benign	Het
Slamf6	A	G	1: 171,764,147 (GRCm39)	E180G	probably benign	Het
Snd1	T	G	6: 28,886,615 (GRCm39)	V874G	possibly damaging	Het
Tpk1	A	T	6: 43,536,951 (GRCm39)		probably null	Het
Vmn1r160	A	T	7: 22,570,761 (GRCm39)	N38I	probably damaging	Het
Wdr93	T	A	7: 79,402,241 (GRCm39)	I180N	probably damaging	Het
Ythdf3	C	T	3: 16,258,198 (GRCm39)	T119I	probably damaging	Het
Zc3h18	T	G	8: 123,134,159 (GRCm39)		probably benign	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
R4015:Sult6b2	UTSW	6	142,735,988 (GRCm39)	missense	possibly damaging	0.89
R4667:Sult6b2	UTSW	6	142,747,421 (GRCm39)	nonsense	probably null
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'- TTGGGTGAGAAAGTTCAGCG -3'
(R):5'- CAGGGCCTATTTAGTCATCAGC -3'

Sequencing Primer
(F):5'- GATACCAGGACCTGAGTTTGAATCC -3'
(R):5'- GGGCCTATTTAGTCATCAGCTAATGC -3'

Posted On

2016-07-06