Mutagenetix > Incidental Mutation

Incidental Mutation 'R0080:Slc35d3'

19643

Institutional Source

Beutler Lab

Gene Symbol

Slc35d3

Ensembl Gene

ENSMUSG00000050473

Gene Name

solute carrier family 35, member D3

Synonyms

Frcl1, 6230421J19Rik

MMRRC Submission

038367-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R0080 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

19723662-19727205 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19724944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 304 (E304G)

Ref Sequence

ENSEMBL: ENSMUSP00000060589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020182] [ENSMUST00000059805]

AlphaFold

Q8BGF8

Predicted Effect

probably benign
Transcript: ENSMUST00000020182

SMART Domains

Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003

Domain	Start	End	E-Value	Type
WD40	52	91	9.24e-4	SMART
WD40	95	136	6.14e-9	SMART
WD40	139	179	8.55e-8	SMART
WD40	182	222	3.5e-4	SMART
WD40	226	266	1.3e-7	SMART
WD40	270	310	6.66e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000059805
AA Change: E304G

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

SMART Domains

Protein: ENSMUSP00000060589
Gene: ENSMUSG00000050473
AA Change: E304G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	47	64	N/A	INTRINSIC
low complexity region	84	96	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	156	175	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC
transmembrane domain	253	275	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC

Meta Mutation Damage Score

0.1786

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 93.1%
20x: 79.7%

Validation Efficiency

88% (175/200)

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit decreased platelet serotonin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,630,440 (GRCm39)		probably null	Het
Adam17	A	C	12: 21,379,049 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,497 (GRCm39)		probably benign	Het
Adgb	T	C	10: 10,253,583 (GRCm39)		probably benign	Het
Antkmt	T	C	17: 26,010,548 (GRCm39)	I89V	probably benign	Het
Ccdc180	A	G	4: 45,896,205 (GRCm39)	D118G	probably null	Het
Coro7	A	T	16: 4,448,328 (GRCm39)	L714Q	probably damaging	Het
D2hgdh	A	G	1: 93,754,177 (GRCm39)	Y50C	probably damaging	Het
Dsg1b	T	G	18: 20,530,424 (GRCm39)	S360A	probably damaging	Het
Ednra	T	C	8: 78,401,688 (GRCm39)	I201V	probably benign	Het
Ggt6	A	G	11: 72,328,021 (GRCm39)	T136A	possibly damaging	Het
Gnb5	A	T	9: 75,221,636 (GRCm39)	E28V	possibly damaging	Het
Golgb1	T	C	16: 36,718,973 (GRCm39)	L293P	probably damaging	Het
Gpr179	A	G	11: 97,242,295 (GRCm39)	V183A	probably benign	Het
Grk6	T	C	13: 55,606,723 (GRCm39)	S474P	probably benign	Het
Hectd4	A	G	5: 121,487,435 (GRCm39)	S3477G	probably benign	Het
Hoatz	T	C	9: 51,013,102 (GRCm39)	T57A	probably benign	Het
Irx3	T	C	8: 92,526,954 (GRCm39)	D250G	possibly damaging	Het
Jsrp1	T	G	10: 80,646,349 (GRCm39)	M70L	probably benign	Het
Kcmf1	G	T	6: 72,827,470 (GRCm39)		probably null	Het
Med23	T	C	10: 24,788,715 (GRCm39)	V1368A	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nos1	G	T	5: 118,031,943 (GRCm39)	C297F	probably damaging	Het
Oas1d	G	A	5: 121,054,955 (GRCm39)	A176T	possibly damaging	Het
Odf2l	A	T	3: 144,830,084 (GRCm39)	I19F	possibly damaging	Het
Or6c1b	T	C	10: 129,273,140 (GRCm39)	I153T	possibly damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Pfkfb2	A	T	1: 130,642,279 (GRCm39)	S5R	probably benign	Het
Pign	G	T	1: 105,480,130 (GRCm39)	A848E	probably damaging	Het
Pomgnt2	A	T	9: 121,811,326 (GRCm39)	V485E	probably damaging	Het
Ryr2	T	A	13: 11,583,361 (GRCm39)	K4764N	probably damaging	Het
Scgb1b19	A	G	7: 32,987,067 (GRCm39)	T73A	probably damaging	Het
Snta1	A	G	2: 154,225,757 (GRCm39)	V209A	probably benign	Het
Spdye4b	A	T	5: 143,181,430 (GRCm39)	D95V	probably damaging	Het
Srek1	T	C	13: 103,880,194 (GRCm39)	T455A	unknown	Het
Tie1	T	A	4: 118,341,550 (GRCm39)	E254V	probably damaging	Het
Tigd4	A	G	3: 84,501,452 (GRCm39)	H123R	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trim60	C	T	8: 65,453,251 (GRCm39)	A333T	probably damaging	Het
Vmn2r82	A	T	10: 79,232,339 (GRCm39)	R779S	probably benign	Het
Wdr91	T	C	6: 34,883,620 (GRCm39)	R132G	possibly damaging	Het
Zfp445	A	G	9: 122,681,421 (GRCm39)	V840A	probably damaging	Het

Other mutations in Slc35d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1554:Slc35d3	UTSW	10	19,726,483 (GRCm39)	missense	probably damaging	1.00
R1618:Slc35d3	UTSW	10	19,724,909 (GRCm39)	missense	probably benign	0.42
R2867:Slc35d3	UTSW	10	19,725,209 (GRCm39)	missense	probably benign
R2867:Slc35d3	UTSW	10	19,725,209 (GRCm39)	missense	probably benign
R3930:Slc35d3	UTSW	10	19,724,605 (GRCm39)	missense	probably damaging	1.00
R4393:Slc35d3	UTSW	10	19,725,352 (GRCm39)	splice site	probably null
R4627:Slc35d3	UTSW	10	19,725,077 (GRCm39)	missense	probably damaging	1.00
R6540:Slc35d3	UTSW	10	19,725,086 (GRCm39)	missense	possibly damaging	0.94
R7804:Slc35d3	UTSW	10	19,725,116 (GRCm39)	missense	probably damaging	1.00
R9534:Slc35d3	UTSW	10	19,725,116 (GRCm39)	missense	probably damaging	1.00
Z1176:Slc35d3	UTSW	10	19,726,329 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGAAATCCCTCTGATGCTGCCC -3'
(R):5'- TGTGCCATGAACTTCACCACACTG -3'

Sequencing Primer
(F):5'- TGATGCTGCCCCTTGAC -3'
(R):5'- GCACTGTACCTACATCAACTCTG -3'

Posted On

2013-04-11