Mutagenetix > Incidental Mutation

Incidental Mutation 'R1331:Slc35b1'

156207

Institutional Source

Beutler Lab

Gene Symbol

Slc35b1

Ensembl Gene

ENSMUSG00000020873

Gene Name

solute carrier family 35, member B1

Synonyms

Ugalt2

MMRRC Submission

039396-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R1331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95275696-95282602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95276689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 56 (V56D)

Ref Sequence

ENSEMBL: ENSMUSP00000156161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021243] [ENSMUST00000037502] [ENSMUST00000131193] [ENSMUST00000146556] [ENSMUST00000232252]

AlphaFold

P97858

Predicted Effect

probably benign
Transcript: ENSMUST00000021243
AA Change: V92D

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873
AA Change: V92D

Domain	Start	End	E-Value	Type
Pfam:TPT	12	309	1.3e-14	PFAM
Pfam:UAA	13	313	2.1e-58	PFAM
Pfam:EamA	170	309	1.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037502

SMART Domains

Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893

Domain	Start	End	E-Value	Type
low complexity region	3	27	N/A	INTRINSIC
Pfam:FAM117	86	397	3.6e-116	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131193
AA Change: V92D

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

SMART Domains

Protein: ENSMUSP00000125307
Gene: ENSMUSG00000020873
AA Change: V92D

Domain	Start	End	E-Value	Type
Pfam:UAA	14	91	5.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143090

Predicted Effect

silent
Transcript: ENSMUST00000146556

SMART Domains

Protein: ENSMUSP00000125597
Gene: ENSMUSG00000020873

Domain	Start	End	E-Value	Type
low complexity region	14	23	N/A	INTRINSIC
Pfam:EmrE	38	149	3.9e-9	PFAM
Pfam:UAA	46	153	4.5e-30	PFAM
Pfam:EamA	63	146	1.4e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189860

Predicted Effect

probably damaging
Transcript: ENSMUST00000232252
AA Change: V56D

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

Meta Mutation Damage Score

0.6440

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 93.0%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,773,202 (GRCm39)		probably null	Het
Acat1	T	C	9: 53,496,183 (GRCm39)	D318G	probably benign	Het
Ahdc1	T	C	4: 132,791,002 (GRCm39)	F748L	probably benign	Het
Alkbh8	T	A	9: 3,347,916 (GRCm39)		probably null	Het
Arhgef26	A	G	3: 62,247,449 (GRCm39)	T178A	probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Ccdc180	T	C	4: 45,909,359 (GRCm39)	V509A	possibly damaging	Het
Ccdc39	T	C	3: 33,869,634 (GRCm39)	E731G	probably benign	Het
Cenpf	A	G	1: 189,374,998 (GRCm39)	V2931A	probably damaging	Het
Cobl	A	T	11: 12,325,853 (GRCm39)	N207K	probably damaging	Het
Col14a1	T	A	15: 55,273,584 (GRCm39)	W718R	unknown	Het
Dnah7a	A	G	1: 53,507,828 (GRCm39)	I3081T	probably damaging	Het
Dync1h1	T	C	12: 110,615,698 (GRCm39)	V2977A	probably damaging	Het
Ephb4	A	G	5: 137,364,796 (GRCm39)		probably benign	Het
Eri3	T	C	4: 117,422,104 (GRCm39)		probably benign	Het
Fbxo24	A	G	5: 137,617,891 (GRCm39)	V291A	probably damaging	Het
Glra1	A	C	11: 55,405,896 (GRCm39)	S282A	probably benign	Het
Gm7589	C	A	9: 59,053,325 (GRCm39)		noncoding transcript	Het
H6pd	T	C	4: 150,066,872 (GRCm39)	N505D	probably benign	Het
Hdlbp	T	A	1: 93,348,853 (GRCm39)	N566Y	probably damaging	Het
Hsp90aa1	C	A	12: 110,659,254 (GRCm39)	K514N	probably damaging	Het
Impdh1	A	T	6: 29,206,477 (GRCm39)	V120D	probably damaging	Het
Katnip	A	G	7: 125,465,627 (GRCm39)	T1360A	probably benign	Het
Loxhd1	C	T	18: 77,490,632 (GRCm39)	P1411S	possibly damaging	Het
Lpl	A	G	8: 69,349,281 (GRCm39)	E269G	probably damaging	Het
Map1a	G	T	2: 121,136,701 (GRCm39)	E2268*	probably null	Het
Mark1	T	C	1: 184,660,245 (GRCm39)	E137G	probably damaging	Het
Mki67	A	T	7: 135,300,005 (GRCm39)	S1676R	possibly damaging	Het
Mogat2	T	C	7: 98,872,722 (GRCm39)	Y154C	possibly damaging	Het
Myo18a	C	G	11: 77,732,405 (GRCm39)	I859M	probably benign	Het
Myo7a	A	G	7: 97,756,215 (GRCm39)	V39A	probably benign	Het
Nedd4	T	A	9: 72,584,668 (GRCm39)	I123N	probably damaging	Het
Obscn	A	G	11: 58,977,754 (GRCm39)	V1966A	probably benign	Het
Or7g33	T	C	9: 19,448,842 (GRCm39)	N128S	probably benign	Het
Orc3	T	G	4: 34,599,748 (GRCm39)	N77T	probably benign	Het
Penk	A	G	4: 4,134,287 (GRCm39)	M120T	probably benign	Het
Phf7	G	A	14: 30,962,362 (GRCm39)	Q148*	probably null	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pkhd1l1	C	T	15: 44,452,993 (GRCm39)	R3973C	probably damaging	Het
Polq	C	T	16: 36,862,109 (GRCm39)	T264M	probably damaging	Het
Ptprb	A	T	10: 116,203,437 (GRCm39)	T2070S	probably damaging	Het
Ralgapb	T	C	2: 158,272,453 (GRCm39)	F169S	probably damaging	Het
Rapgef5	G	T	12: 117,685,084 (GRCm39)	A278S	probably benign	Het
Ripor2	G	T	13: 24,861,824 (GRCm39)	E203*	probably null	Het
Setx	T	C	2: 29,069,698 (GRCm39)	L2501P	probably benign	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Slc45a4	C	T	15: 73,458,596 (GRCm39)	D326N	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stat4	T	A	1: 52,053,086 (GRCm39)	V89D	probably benign	Het
Tek	T	A	4: 94,627,943 (GRCm39)		probably benign	Het
Tert	T	A	13: 73,796,473 (GRCm39)	F1068Y	probably damaging	Het
Trim33	T	A	3: 103,217,670 (GRCm39)	I205K	probably damaging	Het
Vmn1r212	A	T	13: 23,067,562 (GRCm39)	I257K	probably benign	Het

Other mutations in Slc35b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Slc35b1	APN	11	95,279,910 (GRCm39)	missense	probably benign	0.01
IGL03151:Slc35b1	APN	11	95,281,212 (GRCm39)	critical splice donor site	probably null
R0026:Slc35b1	UTSW	11	95,281,468 (GRCm39)	missense	probably benign
R0026:Slc35b1	UTSW	11	95,281,468 (GRCm39)	missense	probably benign
R0125:Slc35b1	UTSW	11	95,277,353 (GRCm39)	missense	probably benign	0.01
R2061:Slc35b1	UTSW	11	95,276,718 (GRCm39)	missense	possibly damaging	0.72
R2192:Slc35b1	UTSW	11	95,276,640 (GRCm39)	missense	probably damaging	1.00
R5283:Slc35b1	UTSW	11	95,275,814 (GRCm39)	start gained	probably benign
R5484:Slc35b1	UTSW	11	95,278,631 (GRCm39)	missense	probably damaging	1.00
R7620:Slc35b1	UTSW	11	95,278,691 (GRCm39)	missense	probably damaging	1.00
R8678:Slc35b1	UTSW	11	95,278,646 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATGATACTTCCAAAGCTCTCAGTG -3'
(R):5'- GGAACTTGCCTGTCAAGTAAGACCG -3'

Sequencing Primer
(F):5'- GCTCTCAGTGGATCTGAACATAC -3'
(R):5'- GATGGCTTAACTCTACTGACAGG -3'

Posted On

2014-02-11