Mutagenetix > Incidental Mutation

Incidental Mutation 'R1878:Slc35c1'

211283

Institutional Source

Beutler Lab

Gene Symbol

Slc35c1

Ensembl Gene

ENSMUSG00000049922

Gene Name

solute carrier family 35, member C1

Synonyms

E430007K15Rik, FUCT1

MMRRC Submission

039899-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

R1878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92283109-92290863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92289398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 36 (V36A)

Ref Sequence

ENSEMBL: ENSMUSP00000137748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067631] [ENSMUST00000125276] [ENSMUST00000136718]

AlphaFold

Q8BLX4

Predicted Effect

probably benign
Transcript: ENSMUST00000067631
AA Change: V49A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000063461
Gene: ENSMUSG00000049922
AA Change: V49A

Domain	Start	End	E-Value	Type
low complexity region	23	28	N/A	INTRINSIC
Pfam:TPT	38	336	5.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125276
AA Change: V36A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119271
Gene: ENSMUSG00000049922
AA Change: V36A

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
Pfam:UAA	27	330	2e-11	PFAM
Pfam:TPT	184	325	3.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136718
AA Change: V36A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000137748
Gene: ENSMUSG00000049922
AA Change: V36A

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
Pfam:UAA	27	158	4.5e-7	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit partial perinatal and postnatal lethality, growth retardation, reduced fertility, leukocytosis, defective lung and primary lymph node development and altered lymphocyte rolling and adhesion. Mortality is increased on an inbred background. [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
Aars2	G	A	17: 45,825,564 (GRCm39)		probably null	Het
Abcb9	A	G	5: 124,228,199 (GRCm39)	V14A	probably benign	Het
Adcy4	T	C	14: 56,007,362 (GRCm39)	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,603,074 (GRCm39)	D828G	possibly damaging	Het
Ak2	T	A	4: 128,895,960 (GRCm39)	V79D	probably damaging	Het
Arhgap29	T	C	3: 121,805,020 (GRCm39)	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,134,363 (GRCm39)	K1222E	probably damaging	Het
Armc1	A	T	3: 19,211,708 (GRCm39)	D37E	probably damaging	Het
Cenpm	A	T	15: 82,118,616 (GRCm39)	M166K	probably benign	Het
Cep97	G	T	16: 55,725,589 (GRCm39)	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,356,476 (GRCm39)	D672E	probably benign	Het
Col6a2	T	C	10: 76,450,622 (GRCm39)	D103G	probably benign	Het
Ddi2	T	C	4: 141,411,460 (GRCm39)	E484G	probably benign	Het
Dph1	T	C	11: 75,075,053 (GRCm39)	D100G	probably damaging	Het
Dsp	A	T	13: 38,348,831 (GRCm39)	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,034,042 (GRCm39)		probably null	Het
Folh1	A	T	7: 86,420,950 (GRCm39)	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,615,212 (GRCm39)	D428E	probably benign	Het
Gfus	A	G	15: 75,797,218 (GRCm39)	S306P	probably benign	Het
Gm11564	A	T	11: 99,706,266 (GRCm39)	C55S	unknown	Het
Gne	T	C	4: 44,040,434 (GRCm39)	I577V	probably damaging	Het
Gpr4	A	G	7: 18,957,049 (GRCm39)	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,286,319 (GRCm39)	N542I	possibly damaging	Het
Ice2	T	C	9: 69,335,858 (GRCm39)		probably null	Het
Irgm1	C	T	11: 48,756,897 (GRCm39)	V305I	probably benign	Het
Itgal	C	A	7: 126,909,843 (GRCm39)	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857 (GRCm39)	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,140,878 (GRCm39)	V141D	possibly damaging	Het
Lrrc9	T	C	12: 72,522,938 (GRCm39)		probably null	Het
Mcc	T	C	18: 44,601,467 (GRCm39)	R621G	possibly damaging	Het
Myd88	T	A	9: 119,167,686 (GRCm39)	Q140L	probably benign	Het
Mylk3	A	T	8: 86,082,028 (GRCm39)	N323K	possibly damaging	Het
Myrip	C	T	9: 120,253,721 (GRCm39)	R265W	probably damaging	Het
N4bp1	A	T	8: 87,588,169 (GRCm39)	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,400,027 (GRCm39)	S418A	probably damaging	Het
Nlrp9b	A	G	7: 19,762,489 (GRCm39)	T269A	probably benign	Het
Nmt1	A	G	11: 102,943,077 (GRCm39)	N144S	probably benign	Het
Npvf	G	A	6: 50,631,303 (GRCm39)	T24I	probably benign	Het
Obscn	T	G	11: 58,886,379 (GRCm39)	Y2347S	probably damaging	Het
Or10d5	T	A	9: 39,862,053 (GRCm39)	T5S	probably benign	Het
Or14j1	T	C	17: 38,146,253 (GRCm39)	V121A	probably benign	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or2aj5	G	T	16: 19,424,501 (GRCm39)	Q306K	probably benign	Het
Or2n1c	T	C	17: 38,519,265 (GRCm39)	I43T	probably benign	Het
Or4c105	A	G	2: 88,647,805 (GRCm39)	T97A	probably benign	Het
Or51v8	A	C	7: 103,319,389 (GRCm39)	M283R	probably damaging	Het
Or7a42	T	A	10: 78,791,639 (GRCm39)	M200K	possibly damaging	Het
Osgin2	A	T	4: 16,005,493 (GRCm39)	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,278,215 (GRCm39)	K398N	possibly damaging	Het
Pcnp	A	T	16: 55,838,850 (GRCm39)	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,503,639 (GRCm39)	I71V	probably benign	Het
Ppp4c	G	T	7: 126,386,779 (GRCm39)	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,179,911 (GRCm39)	M1L	probably damaging	Het
Recql5	A	T	11: 115,785,927 (GRCm39)	D615E	probably benign	Het
Robo3	T	C	9: 37,333,461 (GRCm39)	E728G	probably damaging	Het
Rps27l	T	A	9: 66,854,911 (GRCm39)		probably null	Het
Scube3	T	A	17: 28,371,387 (GRCm39)	V34E	probably benign	Het
Sez6l	A	G	5: 112,623,089 (GRCm39)	I154T	probably damaging	Het
Sgsm1	G	A	5: 113,411,381 (GRCm39)	L782F	probably damaging	Het
Snapc4	A	G	2: 26,266,165 (GRCm39)		probably null	Het
Sohlh2	C	A	3: 55,115,064 (GRCm39)	R350S	probably damaging	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sspo	G	A	6: 48,436,300 (GRCm39)	A1217T	possibly damaging	Het
Stil	T	C	4: 114,898,423 (GRCm39)	S1018P	probably damaging	Het
Strn	T	C	17: 78,984,755 (GRCm39)	E117G	possibly damaging	Het
Syt17	A	T	7: 118,033,468 (GRCm39)	M180K	probably benign	Het
Trem1	T	C	17: 48,548,516 (GRCm39)	S18P	possibly damaging	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc80	A	C	1: 66,548,561 (GRCm39)	H611P	probably damaging	Het
Zfp1004	T	A	2: 150,034,989 (GRCm39)	C437S	probably damaging	Het
Zfp709	A	G	8: 72,643,891 (GRCm39)	E440G	probably damaging	Het
Zfp764	C	A	7: 127,004,214 (GRCm39)	A306S	probably benign	Het
Zfp949	T	A	9: 88,451,356 (GRCm39)	S309T	probably damaging	Het
Zswim4	T	C	8: 84,939,405 (GRCm39)	N826D	possibly damaging	Het

Other mutations in Slc35c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Slc35c1	APN	2	92,284,703 (GRCm39)	missense	probably benign	0.00
IGL00931:Slc35c1	APN	2	92,289,239 (GRCm39)	missense	probably benign	0.00
R0350:Slc35c1	UTSW	2	92,289,377 (GRCm39)	missense	probably damaging	1.00
R0458:Slc35c1	UTSW	2	92,284,858 (GRCm39)	missense	probably damaging	0.98
R0589:Slc35c1	UTSW	2	92,284,859 (GRCm39)	missense	probably damaging	0.98
R1997:Slc35c1	UTSW	2	92,284,984 (GRCm39)	missense	probably benign	0.04
R2329:Slc35c1	UTSW	2	92,289,040 (GRCm39)	nonsense	probably null
R2473:Slc35c1	UTSW	2	92,285,098 (GRCm39)	missense	probably benign	0.32
R2568:Slc35c1	UTSW	2	92,289,225 (GRCm39)	missense	probably benign	0.00
R4583:Slc35c1	UTSW	2	92,289,266 (GRCm39)	missense	probably damaging	1.00
R4761:Slc35c1	UTSW	2	92,289,168 (GRCm39)	missense	probably damaging	0.99
R5021:Slc35c1	UTSW	2	92,289,366 (GRCm39)	missense	possibly damaging	0.61
R7296:Slc35c1	UTSW	2	92,289,084 (GRCm39)	missense	probably damaging	1.00
R7877:Slc35c1	UTSW	2	92,289,402 (GRCm39)	missense	probably damaging	1.00
R8446:Slc35c1	UTSW	2	92,284,707 (GRCm39)	missense	probably benign	0.00
R8519:Slc35c1	UTSW	2	92,285,052 (GRCm39)	missense	probably benign	0.05
Z1176:Slc35c1	UTSW	2	92,289,105 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCGATAAAGACCACTGACAG -3'
(R):5'- TAAGGTGACCCAGCTCTTCTGC -3'

Sequencing Primer
(F):5'- ACACTTCGGGCCACCTTGAG -3'
(R):5'- TCTTCTGCCACCATGAACAGGG -3'

Posted On

2014-06-30