Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Slc35b3'

280130

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35b3

Ensembl Gene

ENSMUSG00000021432

Gene Name

solute carrier family 35, member B3

Synonyms

PAPST2, 4921526O06Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.635) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

39116112-39144851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39139758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 23 (M23K)

Ref Sequence

ENSEMBL: ENSMUSP00000153154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021870] [ENSMUST00000167513] [ENSMUST00000224429] [ENSMUST00000224645] [ENSMUST00000225432] [ENSMUST00000225461] [ENSMUST00000225568] [ENSMUST00000225331] [ENSMUST00000225714]

AlphaFold

Q922Q5

Predicted Effect

probably benign
Transcript: ENSMUST00000021870
AA Change: M67K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021870
Gene: ENSMUSG00000021432
AA Change: M67K

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:UAA	92	383	3.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167513
AA Change: M23K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126016
Gene: ENSMUSG00000021432
AA Change: M23K

Domain	Start	End	E-Value	Type
Pfam:UAA	49	343	4e-98	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223619

Predicted Effect

probably benign
Transcript: ENSMUST00000224429

Predicted Effect

probably benign
Transcript: ENSMUST00000224645

Predicted Effect

probably benign
Transcript: ENSMUST00000225432
AA Change: M23K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225461
AA Change: M23K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000225568

Predicted Effect

probably damaging
Transcript: ENSMUST00000225331
AA Change: M23K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225714
AA Change: M23K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224854

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	G	A	8: 95,761,627 (GRCm39)	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,347,157 (GRCm39)	L42*	probably null	Het
Ankrd45	A	G	1: 160,990,921 (GRCm39)	K259E	probably damaging	Het
Apoc3	T	C	9: 46,145,772 (GRCm39)	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,381,764 (GRCm39)	Y416H	probably damaging	Het
Armc5	A	G	7: 127,843,255 (GRCm39)	T683A	probably benign	Het
Bora	T	C	14: 99,284,813 (GRCm39)	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,497,003 (GRCm39)	S2189N	probably damaging	Het
Cct2	G	A	10: 116,889,017 (GRCm39)	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,609,144 (GRCm39)	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 114,903,219 (GRCm39)		probably benign	Het
Cntnap5a	G	A	1: 116,017,082 (GRCm39)	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,409,103 (GRCm39)	D447V	probably damaging	Het
Cpne7	T	C	8: 123,852,392 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,836,725 (GRCm39)	T92I	probably benign	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Egfem1	G	A	3: 29,705,045 (GRCm39)		probably null	Het
Fam120b	T	C	17: 15,622,847 (GRCm39)	L275P	possibly damaging	Het
Fam161a	A	T	11: 22,970,026 (GRCm39)	H68L	probably benign	Het
Fam193a	A	G	5: 34,568,001 (GRCm39)	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gm10136	T	C	19: 28,981,122 (GRCm39)	K41E	probably benign	Het
Gm10797	C	T	10: 67,408,397 (GRCm39)		noncoding transcript	Het
Hsf1	A	G	15: 76,380,281 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Itfg2	T	C	6: 128,387,344 (GRCm39)	H422R	probably benign	Het
Lrp4	G	T	2: 91,336,404 (GRCm39)	L1738F	probably damaging	Het
Matcap2	T	C	9: 22,335,475 (GRCm39)	I31T	probably benign	Het
Mettl17	A	G	14: 52,128,843 (GRCm39)	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,747,503 (GRCm39)	L454Q	probably damaging	Het
Myh10	A	T	11: 68,680,938 (GRCm39)	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,324,944 (GRCm39)	M1K	probably null	Het
Or2d3c	A	C	7: 106,525,823 (GRCm39)	V281G	probably damaging	Het
Or52e4	A	G	7: 104,706,152 (GRCm39)	D233G	probably benign	Het
Or5d36	T	A	2: 87,901,571 (GRCm39)	N52Y	probably benign	Het
Otop1	T	A	5: 38,435,045 (GRCm39)	C89S	probably benign	Het
Pitrm1	G	T	13: 6,623,181 (GRCm39)	R775L	probably benign	Het
Prpf19	A	G	19: 10,882,458 (GRCm39)	T512A	probably benign	Het
Prpf4b	T	A	13: 35,067,944 (GRCm39)	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,716,630 (GRCm39)	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,828,006 (GRCm39)	D148G	probably damaging	Het
Sbds	A	G	5: 130,279,782 (GRCm39)	I74T	probably damaging	Het
Sec63	T	C	10: 42,686,884 (GRCm39)	V468A	probably damaging	Het
Slc6a9	A	T	4: 117,721,210 (GRCm39)	Y208F	probably benign	Het
Slfn8	A	T	11: 82,895,324 (GRCm39)	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,218,683 (GRCm39)	M600L	probably benign	Het
Supt7l	T	C	5: 31,673,022 (GRCm39)		probably null	Het
Tecrl	T	A	5: 83,502,639 (GRCm39)	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,437,140 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,191,353 (GRCm39)	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,118,269 (GRCm39)	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,887,766 (GRCm39)		noncoding transcript	Het
Tmem184a	G	T	5: 139,798,856 (GRCm39)	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,867,660 (GRCm39)	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,247,403 (GRCm39)	T255I	probably damaging	Het
Top1mt	G	A	15: 75,537,555 (GRCm39)		probably benign	Het
Treh	C	T	9: 44,594,258 (GRCm39)	T168I	probably benign	Het
Ttn	A	T	2: 76,597,672 (GRCm39)	I11420N	probably benign	Het
Zp2	T	C	7: 119,731,641 (GRCm39)	K705E	possibly damaging	Het
Zw10	T	C	9: 48,980,054 (GRCm39)	I395T	probably damaging	Het

Other mutations in Slc35b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Slc35b3	APN	13	39,127,116 (GRCm39)	missense	possibly damaging	0.82
R0883:Slc35b3	UTSW	13	39,121,251 (GRCm39)	missense	probably benign	0.09
R1170:Slc35b3	UTSW	13	39,121,307 (GRCm39)	missense	probably benign	0.03
R1440:Slc35b3	UTSW	13	39,138,110 (GRCm39)	nonsense	probably null
R1653:Slc35b3	UTSW	13	39,139,774 (GRCm39)	missense	probably benign	0.02
R1900:Slc35b3	UTSW	13	39,144,587 (GRCm39)	critical splice donor site	probably null
R3874:Slc35b3	UTSW	13	39,127,044 (GRCm39)	missense	possibly damaging	0.66
R3897:Slc35b3	UTSW	13	39,118,739 (GRCm39)	missense	probably benign	0.09
R4399:Slc35b3	UTSW	13	39,121,791 (GRCm39)	missense	possibly damaging	0.95
R4937:Slc35b3	UTSW	13	39,116,887 (GRCm39)	missense	possibly damaging	0.89
R4955:Slc35b3	UTSW	13	39,116,866 (GRCm39)	missense	probably benign	0.08
R5034:Slc35b3	UTSW	13	39,127,134 (GRCm39)	missense	probably damaging	1.00
R5770:Slc35b3	UTSW	13	39,121,734 (GRCm39)	missense	probably damaging	0.98
R6155:Slc35b3	UTSW	13	39,128,572 (GRCm39)	missense	probably damaging	1.00
R6663:Slc35b3	UTSW	13	39,138,112 (GRCm39)	missense	probably damaging	0.99
R7701:Slc35b3	UTSW	13	39,128,611 (GRCm39)	missense	probably benign	0.03
R8534:Slc35b3	UTSW	13	39,128,566 (GRCm39)	missense	probably benign	0.17
R8796:Slc35b3	UTSW	13	39,121,722 (GRCm39)	critical splice donor site	probably benign
R8950:Slc35b3	UTSW	13	39,138,097 (GRCm39)	missense	probably damaging	1.00
R9185:Slc35b3	UTSW	13	39,123,958 (GRCm39)	splice site	probably benign

Posted On

2015-04-16