Mutagenetix > Incidental Mutation

Incidental Mutation 'R1606:Slc35b4'

176472

Institutional Source

Beutler Lab

Gene Symbol

Slc35b4

Ensembl Gene

ENSMUSG00000018999

Gene Name

solute carrier family 35, member B4

Synonyms

4930474D06Rik

MMRRC Submission

039643-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1606 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

34132810-34153921 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34135323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 330 (K330*)

Ref Sequence

ENSEMBL: ENSMUSP00000019143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019143] [ENSMUST00000138250]

AlphaFold

Q8CIA5

Predicted Effect

probably null
Transcript: ENSMUST00000019143
AA Change: K330*

SMART Domains

Protein: ENSMUSP00000019143
Gene: ENSMUSG00000018999
AA Change: K330*

Domain	Start	End	E-Value	Type
Pfam:UAA	2	314	1.7e-120	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126498

Predicted Effect

probably benign
Transcript: ENSMUST00000138250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146514

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,825,091 (GRCm39)	D1459G	probably damaging	Het
Adhfe1	G	A	1: 9,623,698 (GRCm39)		probably null	Het
Adsl	C	T	15: 80,836,425 (GRCm39)	Q61*	probably null	Het
Arhgap26	T	A	18: 39,429,925 (GRCm39)	C214S	probably damaging	Het
Armc8	A	T	9: 99,419,782 (GRCm39)	N9K	probably damaging	Het
Asxl1	A	G	2: 153,242,375 (GRCm39)	D975G	probably damaging	Het
Atp8b3	T	C	10: 80,368,412 (GRCm39)	E187G	probably damaging	Het
Bltp1	G	A	3: 36,996,548 (GRCm39)	D1087N	probably damaging	Het
Cdcp2	T	C	4: 106,959,710 (GRCm39)	S42P	probably damaging	Het
Chek1	A	G	9: 36,630,820 (GRCm39)	L198P	probably damaging	Het
Dlc1	A	G	8: 37,317,406 (GRCm39)	V423A	probably benign	Het
Dpy19l2	A	G	9: 24,492,511 (GRCm39)	S696P	probably benign	Het
Echdc3	A	T	2: 6,200,438 (GRCm39)	C183S	possibly damaging	Het
Exph5	A	C	9: 53,285,595 (GRCm39)	D892A	probably benign	Het
Fam120b	T	A	17: 15,622,073 (GRCm39)	I17K	possibly damaging	Het
Fbln5	C	T	12: 101,731,457 (GRCm39)	D246N	probably benign	Het
Fbxo15	A	C	18: 84,980,745 (GRCm39)	K195T	possibly damaging	Het
Fzd1	C	A	5: 4,807,514 (GRCm39)	E23*	probably null	Het
Gas2l1	C	A	11: 5,014,434 (GRCm39)	A9S	probably damaging	Het
Gcc2	C	T	10: 58,105,270 (GRCm39)	L69F	probably damaging	Het
Ggt6	C	T	11: 72,328,559 (GRCm39)	A353V	possibly damaging	Het
Gphn	T	A	12: 78,730,657 (GRCm39)	V764E	probably damaging	Het
Grid1	A	T	14: 35,167,922 (GRCm39)	Y482F	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,444 (GRCm39)	V338M	probably benign	Het
Klhl14	T	A	18: 21,698,589 (GRCm39)	Q408L	possibly damaging	Het
Lacc1	T	A	14: 77,267,081 (GRCm39)	Q394L	probably benign	Het
Lcor	T	G	19: 41,573,513 (GRCm39)	M756R	probably benign	Het
Lipe	A	G	7: 25,087,569 (GRCm39)	F477L	probably damaging	Het
Lrig2	A	G	3: 104,387,423 (GRCm39)		probably null	Het
Megf8	T	A	7: 25,058,120 (GRCm39)	H2131Q	probably damaging	Het
Nek1	A	G	8: 61,577,310 (GRCm39)	D1097G	possibly damaging	Het
Nhlrc3	A	T	3: 53,366,078 (GRCm39)	Y138*	probably null	Het
Nudcd2	T	A	11: 40,626,834 (GRCm39)		probably null	Het
Numb	T	C	12: 83,847,784 (GRCm39)		probably null	Het
Or7h8	T	G	9: 20,124,242 (GRCm39)	L199R	probably benign	Het
Pacrg	G	A	17: 11,058,725 (GRCm39)	Q11*	probably null	Het
Ppp1r37	A	T	7: 19,268,924 (GRCm39)	M192K	probably damaging	Het
Prmt8	T	A	6: 127,666,799 (GRCm39)	K392*	probably null	Het
Rab28	A	T	5: 41,855,795 (GRCm39)	W67R	probably damaging	Het
Rad21l	C	T	2: 151,496,606 (GRCm39)	C365Y	probably damaging	Het
Rbm17	A	T	2: 11,600,208 (GRCm39)	F147I	probably benign	Het
Rbm46	A	C	3: 82,771,848 (GRCm39)	F256V	probably damaging	Het
Rcc1	A	T	4: 132,062,087 (GRCm39)		probably null	Het
Rnf217	G	T	10: 31,410,807 (GRCm39)	T296N	possibly damaging	Het
Rnmt	A	G	18: 68,444,724 (GRCm39)	D231G	possibly damaging	Het
Rph3al	C	T	11: 75,797,367 (GRCm39)	V110I	probably damaging	Het
Rxfp2	T	C	5: 149,983,362 (GRCm39)	M289T	probably benign	Het
Sash1	T	C	10: 8,605,721 (GRCm39)	R890G	probably benign	Het
Sf3b2	A	T	19: 5,338,026 (GRCm39)	D245E	probably benign	Het
Skint9	A	T	4: 112,246,398 (GRCm39)	V238E	probably benign	Het
Slc26a8	T	A	17: 28,857,455 (GRCm39)	D896V	possibly damaging	Het
Slco1a4	G	T	6: 141,785,337 (GRCm39)	H84Q	probably damaging	Het
Sptbn2	G	T	19: 4,800,270 (GRCm39)		probably null	Het
St6galnac3	A	T	3: 152,912,305 (GRCm39)	D227E	probably benign	Het
Tek	G	A	4: 94,738,004 (GRCm39)	D685N	probably damaging	Het
Trf	G	T	9: 103,102,335 (GRCm39)		probably null	Het
Trpm5	T	A	7: 142,638,908 (GRCm39)	K288*	probably null	Het
Ttn	C	T	2: 76,567,356 (GRCm39)	V27846I	probably damaging	Het
Tyr	A	T	7: 87,087,179 (GRCm39)	D444E	probably benign	Het
Ucp1	C	A	8: 84,021,933 (GRCm39)	A255E	probably damaging	Het
Ush2a	A	G	1: 188,491,963 (GRCm39)	D3084G	probably benign	Het
Yeats4	T	C	10: 117,053,344 (GRCm39)	Y139C	probably damaging	Het
Zbtb6	A	G	2: 37,319,130 (GRCm39)	V266A	probably benign	Het
Zfp784	A	T	7: 5,038,774 (GRCm39)	N261K	possibly damaging	Het

Other mutations in Slc35b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01646:Slc35b4	APN	6	34,135,364 (GRCm39)	missense	probably benign	0.03
IGL01667:Slc35b4	APN	6	34,144,610 (GRCm39)	missense	possibly damaging	0.81
IGL01670:Slc35b4	APN	6	34,147,484 (GRCm39)	missense	probably benign	0.00
IGL02015:Slc35b4	APN	6	34,147,483 (GRCm39)	missense	probably damaging	1.00
IGL02710:Slc35b4	APN	6	34,135,476 (GRCm39)	missense	probably benign	0.02
IGL03051:Slc35b4	APN	6	34,137,406 (GRCm39)	critical splice donor site	probably null
R0008:Slc35b4	UTSW	6	34,135,452 (GRCm39)	missense	probably damaging	1.00
R0008:Slc35b4	UTSW	6	34,135,452 (GRCm39)	missense	probably damaging	1.00
R1052:Slc35b4	UTSW	6	34,138,619 (GRCm39)	missense	probably damaging	1.00
R1304:Slc35b4	UTSW	6	34,140,300 (GRCm39)	nonsense	probably null
R1713:Slc35b4	UTSW	6	34,147,484 (GRCm39)	missense	probably benign	0.00
R1872:Slc35b4	UTSW	6	34,135,440 (GRCm39)	nonsense	probably null
R5539:Slc35b4	UTSW	6	34,153,737 (GRCm39)	missense	probably damaging	0.99
R6954:Slc35b4	UTSW	6	34,135,556 (GRCm39)	missense	probably benign	0.02
R7339:Slc35b4	UTSW	6	34,144,591 (GRCm39)	missense	probably damaging	1.00
R7560:Slc35b4	UTSW	6	34,140,296 (GRCm39)	missense	probably benign	0.01
R8189:Slc35b4	UTSW	6	34,144,570 (GRCm39)	missense	probably damaging	1.00
R8987:Slc35b4	UTSW	6	34,137,442 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TCGGTAGCAACAAGTGCGACACAG -3'
(R):5'- CGGGGTGTGTTCATCCTTACAACAG -3'

Sequencing Primer
(F):5'- GCTCTGAGACTTGGAATTCAAC -3'
(R):5'- GTTCATCCTTACAACAGAGTGTACC -3'

Posted On

2014-04-24