Mutagenetix > Incidental Mutation

Incidental Mutation 'R1052:Slc35b4'

94042

Institutional Source

Beutler Lab

Gene Symbol

Slc35b4

Ensembl Gene

ENSMUSG00000018999

Gene Name

solute carrier family 35, member B4

Synonyms

4930474D06Rik

MMRRC Submission

039142-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1052 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34132810-34153921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34138619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 197 (F197I)

Ref Sequence

ENSEMBL: ENSMUSP00000019143 (fasta)

Gene Model

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

AlphaFold

Q8CIA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000019143
AA Change: F197I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019143
Gene: ENSMUSG00000018999
AA Change: F197I

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,535,417 (GRCm39)	Y528F	possibly damaging	Het
Acad10	G	A	5: 121,787,604 (GRCm39)	T115I	possibly damaging	Het
Adam19	T	C	11: 46,018,092 (GRCm39)	F385L	probably damaging	Het
Adgb	T	C	10: 10,318,357 (GRCm39)	N162D	probably benign	Het
Arhgap20	C	A	9: 51,757,570 (GRCm39)	P521T	probably damaging	Het
Arsa	A	T	15: 89,359,380 (GRCm39)	L134Q	probably damaging	Het
Atp5f1b	A	G	10: 127,925,921 (GRCm39)	Y508C	probably damaging	Het
AW554918	G	A	18: 25,553,067 (GRCm39)	M287I	probably benign	Het
Bmp4	T	C	14: 46,621,360 (GRCm39)	K395E	probably damaging	Het
Cacna2d4	A	G	6: 119,277,294 (GRCm39)	Y669C	probably damaging	Het
Casq2	T	C	3: 102,051,550 (GRCm39)		probably null	Het
Cdk5rap1	A	T	2: 154,202,519 (GRCm39)	I237N	possibly damaging	Het
Cerk	G	C	15: 86,033,565 (GRCm39)	S286C	possibly damaging	Het
Cir1	A	C	2: 73,117,987 (GRCm39)	L186R	probably damaging	Het
Csf3r	A	T	4: 125,936,781 (GRCm39)		probably null	Het
Cyp3a41a	A	T	5: 145,642,621 (GRCm39)	I246K	possibly damaging	Het
Cyp8b1	A	G	9: 121,744,348 (GRCm39)	F328S	possibly damaging	Het
Dzank1	A	T	2: 144,355,365 (GRCm39)	V110D	probably benign	Het
Gm6729	T	A	10: 86,376,799 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,604,246 (GRCm39)	F246L	probably benign	Het
Gnpat	T	A	8: 125,605,255 (GRCm39)	L248H	probably damaging	Het
Gstm7	T	C	3: 107,834,266 (GRCm39)	T163A	probably benign	Het
Hspa5	A	G	2: 34,665,110 (GRCm39)	T424A	probably damaging	Het
Itgb1	T	G	8: 129,439,786 (GRCm39)	D158E	probably damaging	Het
Kif21a	A	G	15: 90,819,853 (GRCm39)	V1637A	probably benign	Het
Kl	G	T	5: 150,905,985 (GRCm39)	V452F	probably damaging	Het
Krt23	T	C	11: 99,369,045 (GRCm39)	N416S	probably benign	Het
Lama4	A	T	10: 38,968,241 (GRCm39)	H1461L	possibly damaging	Het
Lamc3	A	G	2: 31,818,814 (GRCm39)	T1180A	probably benign	Het
Mboat2	T	C	12: 24,996,527 (GRCm39)	Y145H	probably damaging	Het
Mlxipl	T	A	5: 135,142,564 (GRCm39)	I126N	probably damaging	Het
Myo16	T	A	8: 10,620,181 (GRCm39)	N1577K	possibly damaging	Het
Nlrp4f	A	G	13: 65,332,897 (GRCm39)	V87A	possibly damaging	Het
Or5al5	A	G	2: 85,961,915 (GRCm39)	F31L	probably benign	Het
Or6p1	A	T	1: 174,258,701 (GRCm39)	K236*	probably null	Het
Pask	A	T	1: 93,258,549 (GRCm39)	D266E	probably benign	Het
Pcdhb17	A	G	18: 37,619,899 (GRCm39)	Y563C	probably damaging	Het
Pdlim3	T	A	8: 46,349,837 (GRCm39)	I49N	probably damaging	Het
Pla2g4c	T	A	7: 13,077,334 (GRCm39)	V292E	possibly damaging	Het
Pramel23	T	C	4: 143,423,477 (GRCm39)	I437M	possibly damaging	Het
Prrt4	G	T	6: 29,169,813 (GRCm39)	Q880K	possibly damaging	Het
Pygb	A	G	2: 150,628,858 (GRCm39)	D24G	probably benign	Het
R3hcc1l	T	A	19: 42,552,093 (GRCm39)	D363E	probably damaging	Het
Rif1	A	C	2: 52,001,574 (GRCm39)	Q1676P	probably benign	Het
Ryr1	C	A	7: 28,795,683 (GRCm39)	R1069L	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc2a13	A	G	15: 91,296,363 (GRCm39)	V317A	probably damaging	Het
Tchhl1	G	A	3: 93,377,520 (GRCm39)	V75I	probably benign	Het
Ubr4	T	C	4: 139,182,771 (GRCm39)	S3521P	possibly damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp335	GTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTC	2: 164,749,388 (GRCm39)		probably benign	Het
Zfp874a	T	G	13: 67,590,539 (GRCm39)	I382L	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
R1304:Slc35b4	UTSW	6	34,140,300 (GRCm39)	nonsense	probably null
R1606:Slc35b4	UTSW	6	34,135,323 (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'- ACGACTAAAGCCCCTTTGGGAAAC -3'
(R):5'- TGAGTGTGGACAGTCTCATCCTGTG -3'

Sequencing Primer
(F):5'- TGGTTGAACAACTGTACCTACAGG -3'
(R):5'- AAGTGTGGACAGTCTCATCC -3'

Posted On

2014-01-05