Mutagenetix > Incidental Mutation

Incidental Mutation 'R7663:Slc35a1'

591693

Institutional Source

Beutler Lab

Gene Symbol

Slc35a1

Ensembl Gene

ENSMUSG00000028293

Gene Name

solute carrier family 35 (CMP-sialic acid transporter), member 1

Synonyms

MMRRC Submission

045738-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34663257-34687438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34675493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 111 (N111K)

Ref Sequence

ENSEMBL: ENSMUSP00000029970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029970]

AlphaFold

Q61420

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029970
AA Change: N111K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029970
Gene: ENSMUSG00000028293
AA Change: N111K

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	8	314	6.4e-125	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119125
Gene: ENSMUSG00000028293
AA Change: N74K

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	1	250	1.2e-86	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,887 (GRCm39)	T359A	probably damaging	Het
Abcd4	A	C	12: 84,652,903 (GRCm39)	V433G	probably damaging	Het
Acot5	C	A	12: 84,116,355 (GRCm39)	R39S	probably damaging	Het
Actl9	T	C	17: 33,652,443 (GRCm39)	S168P	probably damaging	Het
Adam15	A	G	3: 89,253,113 (GRCm39)	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,617,879 (GRCm39)	Q289R	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asah1	C	T	8: 41,794,664 (GRCm39)	R385Q	probably damaging	Het
Bicc1	T	C	10: 70,782,420 (GRCm39)	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,448,614 (GRCm39)		probably null	Het
Cdhr4	A	T	9: 107,875,971 (GRCm39)	R750*	probably null	Het
Cep290	T	A	10: 100,390,398 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,442,797 (GRCm39)	D749V	probably benign	Het
Clcn1	C	T	6: 42,286,997 (GRCm39)	P685S	possibly damaging	Het
Clk1	A	G	1: 58,460,319 (GRCm39)	S104P	probably damaging	Het
Commd10	T	C	18: 47,219,323 (GRCm39)	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,865,953 (GRCm39)	C213*	probably null	Het
Dnah14	A	T	1: 181,579,720 (GRCm39)		probably null	Het
Dock2	C	T	11: 34,611,854 (GRCm39)	G170R	probably damaging	Het
Fam186a	T	G	15: 99,842,950 (GRCm39)	H1098P	probably benign	Het
Flt1	T	C	5: 147,591,930 (GRCm39)	T511A	probably benign	Het
Fmo1	A	C	1: 162,663,866 (GRCm39)	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,651,126 (GRCm39)	S93R	possibly damaging	Het
Gm3629	A	C	14: 17,875,685 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gys2	C	T	6: 142,405,211 (GRCm39)	R192H	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hectd4	C	A	5: 121,462,094 (GRCm39)	A987E	probably benign	Het
Herc2	G	A	7: 55,786,433 (GRCm39)	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,023,554 (GRCm39)	T88A	probably benign	Het
Jag2	T	C	12: 112,877,286 (GRCm39)	D695G	probably damaging	Het
Kazn	A	T	4: 141,832,209 (GRCm39)	D663E		Het
Krt79	T	C	15: 101,840,278 (GRCm39)	D306G	probably damaging	Het
Lama1	T	A	17: 68,087,875 (GRCm39)	C1498S		Het
Ldb1	T	C	19: 46,023,963 (GRCm39)	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,740,573 (GRCm39)	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,543,047 (GRCm39)		probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,429,045 (GRCm39)	Y2377F	probably damaging	Het
Neb	T	A	2: 52,120,059 (GRCm39)	Y721F		Het
Ntf3	A	G	6: 126,078,778 (GRCm39)	S243P	probably damaging	Het
Or4c103	G	C	2: 88,513,696 (GRCm39)	P127A	probably damaging	Het
Or52s1	T	C	7: 102,861,652 (GRCm39)	M195T	possibly damaging	Het
Or5b121	G	T	19: 13,507,809 (GRCm39)	M301I	probably damaging	Het
Pdk1	G	A	2: 71,705,742 (GRCm39)		probably null	Het
Pdzd2	A	G	15: 12,373,289 (GRCm39)	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,824,497 (GRCm39)	F517L	probably benign	Het
Plch2	T	A	4: 155,075,619 (GRCm39)	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,922,367 (GRCm39)	R603W	probably damaging	Het
Pltp	A	T	2: 164,698,926 (GRCm39)		probably null	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Psmb3	G	T	11: 97,603,318 (GRCm39)	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,260,335 (GRCm39)	V764A	probably benign	Het
Rel	T	C	11: 23,692,713 (GRCm39)	D440G	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Rims2	T	A	15: 39,370,422 (GRCm39)	V952E	probably damaging	Het
Samd4b	G	T	7: 28,122,925 (GRCm39)	C44*	probably null	Het
Slamf8	C	A	1: 172,415,605 (GRCm39)	V78F	possibly damaging	Het
Slc7a5	A	T	8: 122,614,274 (GRCm39)	Y264*	probably null	Het
Srsf2	T	C	11: 116,743,120 (GRCm39)	S134G	unknown	Het
Stag1	T	A	9: 100,620,191 (GRCm39)	M98K	probably damaging	Het
Trib1	T	C	15: 59,523,562 (GRCm39)	S199P	probably damaging	Het
Txnip	T	C	3: 96,467,153 (GRCm39)	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,428,911 (GRCm39)	T176I	not run	Het
Vmn1r222	A	G	13: 23,416,601 (GRCm39)	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,576,466 (GRCm39)	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,308,054 (GRCm39)	H728L	probably damaging	Het
Zfp69	G	A	4: 120,792,323 (GRCm39)	A151V	probably benign	Het
Zfp738	A	G	13: 67,831,520 (GRCm39)		probably null	Het
Zfp974	T	C	7: 27,611,110 (GRCm39)	E205G	possibly damaging	Het

Other mutations in Slc35a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Slc35a1	APN	4	34,668,932 (GRCm39)	missense	probably benign	0.09
IGL02185:Slc35a1	APN	4	34,675,584 (GRCm39)	missense	probably benign	0.08
BB004:Slc35a1	UTSW	4	34,669,021 (GRCm39)	missense	probably damaging	0.98
BB014:Slc35a1	UTSW	4	34,669,021 (GRCm39)	missense	probably damaging	0.98
PIT4581001:Slc35a1	UTSW	4	34,669,501 (GRCm39)	missense	possibly damaging	0.78
R0256:Slc35a1	UTSW	4	34,668,962 (GRCm39)	missense	probably benign	0.01
R0271:Slc35a1	UTSW	4	34,664,125 (GRCm39)	missense	probably benign	0.00
R1993:Slc35a1	UTSW	4	34,675,181 (GRCm39)	missense	probably damaging	0.99
R4583:Slc35a1	UTSW	4	34,664,146 (GRCm39)	missense	probably benign
R5259:Slc35a1	UTSW	4	34,683,322 (GRCm39)	missense	probably benign	0.14
R5759:Slc35a1	UTSW	4	34,675,032 (GRCm39)	missense	probably benign	0.04
R7410:Slc35a1	UTSW	4	34,675,034 (GRCm39)	missense	probably benign	0.00
R7671:Slc35a1	UTSW	4	34,673,875 (GRCm39)	missense
R7785:Slc35a1	UTSW	4	34,675,148 (GRCm39)	missense	probably damaging	0.96
R7927:Slc35a1	UTSW	4	34,669,021 (GRCm39)	missense	probably damaging	0.98
R7971:Slc35a1	UTSW	4	34,664,161 (GRCm39)	missense	probably benign	0.00
R9407:Slc35a1	UTSW	4	34,675,181 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAGTCCTTGAAGAAATACCTCA -3'
(R):5'- AAGGCTGCTTGGTTTTCTGC -3'

Sequencing Primer
(F):5'- CCTTGAAGAAATACCTCATCATTGAC -3'
(R):5'- GGCTGCTTGGTTTTCTGCCTTAC -3'

Posted On

2019-11-12