Mutagenetix > Incidental Mutations

Incidental Mutation 'R3934:Slc35f1'

306945

Institutional Source

Beutler Lab

Gene Symbol

Slc35f1

Ensembl Gene

ENSMUSG00000038602

Gene Name

solute carrier family 35, member F1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3934 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53108218 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 358 (T358I)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105473]

Predicted Effect

probably damaging
Transcript: ENSMUST00000105473
AA Change: T358I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: T358I

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:SLC35F	56	355	1.4e-151	PFAM
Pfam:CRT-like	66	315	2.3e-13	PFAM
Pfam:EamA	217	355	1.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218783

Meta Mutation Damage Score

0.3129

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

100% (40/40)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	T	A	12: 18,534,081	Y381N	possibly damaging	Het
Adgrf3	T	C	5: 30,200,434		probably benign	Het
Adgrv1	A	G	13: 81,475,047	F3819S	probably benign	Het
Aig1	T	C	10: 13,801,912	D112G	probably damaging	Het
Akap6	C	T	12: 53,140,444	T1547M	possibly damaging	Het
Alk	T	A	17: 72,205,954	I337F	probably damaging	Het
C2cd5	C	T	6: 143,041,380	V499I	possibly damaging	Het
Capn11	A	T	17: 45,634,287		probably benign	Het
Clstn3	G	A	6: 124,457,942	T338I	probably damaging	Het
Cmbl	A	G	15: 31,589,787	D221G	possibly damaging	Het
Enpp2	A	G	15: 54,845,921	V766A	probably benign	Het
Fastk	G	T	5: 24,442,259	S317*	probably null	Het
Fgfr1op2	T	A	6: 146,595,171		probably benign	Het
Gpr85	A	G	6: 13,836,045	F287L	probably benign	Het
Hectd4	G	A	5: 121,320,101		probably null	Het
Hmcn2	T	A	2: 31,380,484		probably null	Het
Hspbp1	A	T	7: 4,664,595	M271K	probably benign	Het
Itgb6	G	A	2: 60,611,411	T685M	possibly damaging	Het
Itih5	G	A	2: 10,245,544	V685I	probably damaging	Het
Kalrn	T	C	16: 34,310,531	S421G	probably benign	Het
Mcm2	G	A	6: 88,893,008	R60C	probably damaging	Het
Mitf	C	T	6: 97,993,253	P54S	probably damaging	Het
Perm1	A	G	4: 156,219,170	T724A	probably benign	Het
Pex5l	T	C	3: 33,007,172	E176G	probably damaging	Het
Polk	A	T	13: 96,501,635	M192K	possibly damaging	Het
Polr3a	T	C	14: 24,476,101	I401V	probably benign	Het
Prpf38b	T	C	3: 108,904,425		probably benign	Het
Sema3c	T	C	5: 17,681,940	S330P	probably damaging	Het
Slc16a7	C	A	10: 125,230,843	R309L	probably damaging	Het
Slc39a12	T	A	2: 14,434,363		probably benign	Het
Sod3	T	C	5: 52,368,645	S229P	probably benign	Het
Sorcs3	T	A	19: 48,713,504	V608D	probably damaging	Het
Spink5	G	T	18: 44,016,427	K958N	probably damaging	Het
Ttc7	A	C	17: 87,370,738		probably benign	Het
Ush2a	T	A	1: 188,263,511		probably null	Het
Vmn2r19	T	A	6: 123,315,669	D223E	probably damaging	Het
Vwf	T	A	6: 125,555,499	S87T	probably damaging	Het
Wdr35	G	T	12: 9,008,014	G513C	probably damaging	Het

Other mutations in Slc35f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Slc35f1	APN	10	53062452	missense	probably damaging	1.00
IGL01073:Slc35f1	APN	10	53021960	missense	probably benign	0.16
IGL01433:Slc35f1	APN	10	53073446	splice site	probably benign
IGL01566:Slc35f1	APN	10	53089455	missense	probably damaging	1.00
IGL02693:Slc35f1	APN	10	52933128	missense	probably damaging	1.00
IGL02870:Slc35f1	APN	10	52933207	missense	possibly damaging	0.82
IGL03082:Slc35f1	APN	10	52933138	missense	probably benign
R0884:Slc35f1	UTSW	10	53089347	missense	probably damaging	1.00
R1340:Slc35f1	UTSW	10	53089454	missense	probably damaging	1.00
R1781:Slc35f1	UTSW	10	53062436	splice site	probably null
R1813:Slc35f1	UTSW	10	52933195	missense	probably damaging	1.00
R1908:Slc35f1	UTSW	10	53021904	missense	possibly damaging	0.84
R2044:Slc35f1	UTSW	10	53089347	missense	probably damaging	1.00
R2518:Slc35f1	UTSW	10	53073534	missense	probably benign	0.07
R3872:Slc35f1	UTSW	10	53021910	missense	possibly damaging	0.87
R3935:Slc35f1	UTSW	10	53108218	missense	probably damaging	1.00
R3936:Slc35f1	UTSW	10	53108218	missense	probably damaging	1.00
R4118:Slc35f1	UTSW	10	53089368	missense	probably damaging	0.98
R4921:Slc35f1	UTSW	10	53062602	missense	probably damaging	0.99
R5116:Slc35f1	UTSW	10	53021895	missense	probably benign	0.39
R5378:Slc35f1	UTSW	10	52691061	missense	possibly damaging	0.86
R5387:Slc35f1	UTSW	10	53108164	missense	probably damaging	1.00
R5500:Slc35f1	UTSW	10	52933222	missense	probably damaging	0.99
R5590:Slc35f1	UTSW	10	53108178	missense	possibly damaging	0.63
R5743:Slc35f1	UTSW	10	53089450	missense	probably benign	0.06
R5916:Slc35f1	UTSW	10	52933221	nonsense	probably null
R6985:Slc35f1	UTSW	10	53021911	missense	probably benign	0.02
R7068:Slc35f1	UTSW	10	53062500	missense	probably damaging	1.00
R7295:Slc35f1	UTSW	10	53062541	missense	probably benign	0.00
R7427:Slc35f1	UTSW	10	53089414	missense	probably damaging	1.00
R7428:Slc35f1	UTSW	10	53089414	missense	probably damaging	1.00
R8334:Slc35f1	UTSW	10	53108148	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCACTTTCCATCAAGAGTATCAGC -3'
(R):5'- ACACATGGCCTCTGAGTTGTC -3'

Sequencing Primer
(F):5'- GAGTATCAGCTACCTCATCAAATTGC -3'
(R):5'- GAGTTGTCCTCAGTGGGC -3'

Posted On

2015-04-17