Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02693:Slc35f1'

303818

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02693

Quality Score

Status

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52933128 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 70 (L70F)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105473
AA Change: L70F

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

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: L70F

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

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,285,258	I3973V	probably benign	Het
A830018L16Rik	A	G	1: 11,596,282	D271G	probably damaging	Het
Agl	A	T	3: 116,746,428	V1478E	possibly damaging	Het
Ckap5	C	T	2: 91,570,211	P636L	probably damaging	Het
Cnot1	A	G	8: 95,773,485	V127A	probably damaging	Het
Cs	A	G	10: 128,349,809		probably benign	Het
Fbln1	G	A	15: 85,229,574	E170K	probably benign	Het
Gm5866	A	T	5: 52,583,216		noncoding transcript	Het
Lpin3	T	C	2: 160,905,055	V794A	probably damaging	Het
Ly86	T	G	13: 37,375,029	I68S	probably damaging	Het
Mrps34	A	G	17: 24,895,198	I11V	probably benign	Het
Nsmce4a	A	G	7: 130,542,808	S122P	probably damaging	Het
Olfm1	A	G	2: 28,212,650	E112G	probably damaging	Het
Olfr1153	T	G	2: 87,896,533	C111W	probably damaging	Het
Parp9	A	G	16: 35,956,970	E428G	probably benign	Het
Phkb	T	G	8: 85,942,234	F297V	probably damaging	Het
Pianp	T	G	6: 125,001,635	F268V	possibly damaging	Het
Polr1a	T	C	6: 71,963,846		probably benign	Het
Prune2	G	A	19: 17,124,491	G2453E	probably benign	Het
Ptpn4	T	C	1: 119,715,969	N350D	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rfc4	A	G	16: 23,114,210	S326P	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Slc5a7	T	C	17: 54,276,919	T448A	probably benign	Het
Stoml1	T	A	9: 58,257,076	I149N	probably damaging	Het
Sytl1	A	T	4: 133,257,746	C180S	probably benign	Het
Tex37	C	A	6: 70,913,504	R101S	possibly damaging	Het
Traf6	T	C	2: 101,688,505	L113P	possibly damaging	Het
Trappc9	A	G	15: 72,963,693		probably benign	Het
Tubg2	T	C	11: 101,160,899	Y317H	probably damaging	Het
Zfp334	T	C	2: 165,380,513	T537A	possibly 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
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
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

Posted On

2015-04-16