Mutagenetix > Incidental Mutation

Incidental Mutation 'R3936:Slc35f1'

307176

Institutional Source

Beutler Lab

Gene Symbol

Slc35f1

Ensembl Gene

ENSMUSG00000038602

Gene Name

solute carrier family 35, member F1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53108218 bp (GRCm38)

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]

AlphaFold

Q8BGK5

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: 97.4%
20x: 95.3%

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	C	T	12: 53,140,444	T1547M	possibly damaging	Het
Alk	T	A	17: 72,205,954	I337F	probably damaging	Het
Ank3	A	T	10: 69,879,989	K491*	probably null	Het
Arx	T	A	X: 93,297,369	L554Q	probably damaging	Het
Axdnd1	T	C	1: 156,331,639	N203S	probably benign	Het
Baz2b	A	G	2: 59,912,761	V1622A	possibly damaging	Het
Btnl6	T	A	17: 34,517,342	H4L	probably benign	Het
Dync2h1	C	A	9: 7,001,482	L3835F	probably damaging	Het
Fcgbp	T	C	7: 28,075,399	F133L	probably benign	Het
Fnip1	A	G	11: 54,480,239		probably null	Het
G6pc	A	G	11: 101,374,603	I154V	probably benign	Het
Golgb1	G	T	16: 36,914,056	E1222*	probably null	Het
Gpr85	A	G	6: 13,836,045	F287L	probably benign	Het
Gzmk	A	T	13: 113,173,025	S164T	probably damaging	Het
Il22ra2	T	A	10: 19,631,708	S156R	probably benign	Het
Kansl1	A	T	11: 104,343,543	D712E	possibly damaging	Het
Mc3r	T	A	2: 172,249,296	I146N	probably damaging	Het
Mcm2	G	A	6: 88,893,008	R60C	probably damaging	Het
Mitf	C	T	6: 97,993,253	P54S	probably damaging	Het
Olfr156	T	A	4: 43,821,359	M1L	probably benign	Het
P4hb	A	C	11: 120,562,409	H440Q	probably benign	Het
Pbsn	T	C	X: 77,848,096	T32A	probably damaging	Het
Rptn	A	C	3: 93,395,576	H72P	possibly damaging	Het
Scn1a	T	C	2: 66,327,776	I418V	probably damaging	Het
Sf3a1	T	A	11: 4,180,024		probably null	Het
Slc9c1	A	G	16: 45,606,830		probably benign	Het
Sorcs3	T	A	19: 48,713,504	V608D	probably damaging	Het
Sult2b1	C	T	7: 45,742,216	V49M	probably benign	Het
Tlr11	A	G	14: 50,362,735	E726G	possibly damaging	Het
Treh	C	T	9: 44,684,543	R342W	probably benign	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
R3934:Slc35f1	UTSW	10	53108218	missense	probably damaging	1.00
R3935: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'- CACTTTCCATCAAGAGTATCAGCTAC -3'
(R):5'- AACACATGGCCTCTGAGTTGTC -3'

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

Posted On

2015-04-17