Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00434:Slc35f1'

6106

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 #

IGL00434

Quality Score

Status

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53062452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 160 (L160P)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

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

AlphaFold

Q8BGK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105473
AA Change: L160P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: L160P

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,987,299	F2609L	probably damaging	Het
Arid2	T	C	15: 96,371,300	V1098A	probably damaging	Het
Ccdc126	C	T	6: 49,334,305		probably benign	Het
Cds2	T	C	2: 132,293,351	L54P	probably damaging	Het
Cdsn	A	T	17: 35,554,843	S90C	unknown	Het
Clcn6	G	T	4: 148,013,738	D581E	probably damaging	Het
Clec4f	T	A	6: 83,653,216	H120L	possibly damaging	Het
Col12a1	T	C	9: 79,653,332	T1838A	probably benign	Het
Col22a1	T	C	15: 72,006,675	D211G	possibly damaging	Het
Cpne8	T	C	15: 90,497,058		probably benign	Het
Dgkk	T	A	X: 6,906,458	M462K	probably benign	Het
Dhx29	T	A	13: 112,955,225	H834Q	probably benign	Het
Esyt1	A	G	10: 128,517,635	Y578H	possibly damaging	Het
Fnip2	C	A	3: 79,512,489		probably benign	Het
Fut1	T	G	7: 45,619,431	C270G	probably damaging	Het
Ganab	T	A	19: 8,907,343	V170D	probably damaging	Het
Gm15448	C	A	7: 3,823,089	G302C	probably damaging	Het
Gys1	T	A	7: 45,444,832	M364K	possibly damaging	Het
Ighv1-85	A	C	12: 116,000,034	C115W	probably damaging	Het
Igkv4-74	T	G	6: 69,185,060	T42P	probably damaging	Het
Jmjd4	A	G	11: 59,450,495	Y84C	probably damaging	Het
Kif11	A	C	19: 37,411,409	E781D	possibly damaging	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Klf1	C	T	8: 84,901,999	P9S	possibly damaging	Het
Lrrn3	T	C	12: 41,452,192		probably benign	Het
Ltbp4	C	A	7: 27,328,805	R309L	probably damaging	Het
March10	T	C	11: 105,402,188	E131G	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mgme1	T	A	2: 144,279,136		probably benign	Het
Nkiras2	G	A	11: 100,624,982	G45D	probably damaging	Het
Orc2	A	T	1: 58,493,716	D16E	possibly damaging	Het
Pcyox1l	T	C	18: 61,697,542	T420A	probably benign	Het
Pm20d1	A	G	1: 131,814,000		probably benign	Het
Ppp1r3c	T	C	19: 36,734,103	D89G	probably damaging	Het
Ppp2ca	G	A	11: 52,121,949	R302H	probably benign	Het
Riok3	T	C	18: 12,148,847	V291A	probably damaging	Het
Rragd	A	G	4: 33,007,219		probably benign	Het
Scai	C	A	2: 39,108,394	L174F	probably damaging	Het
Slc25a44	T	C	3: 88,416,062	I227V	probably benign	Het
Slc38a1	A	G	15: 96,585,623	Y275H	possibly damaging	Het
Slco6b1	A	G	1: 96,988,650		noncoding transcript	Het
Spag8	G	T	4: 43,652,890	C190*	probably null	Het
Tbr1	T	C	2: 61,805,281	F192L	probably benign	Het
Tmem29	A	T	X: 150,398,399	V132E	possibly damaging	Het
Tti1	C	T	2: 158,008,966	E118K	probably damaging	Het
Tti1	T	A	2: 158,008,965	E118V	probably damaging	Het
Vcan	G	T	13: 89,704,702	P713Q	probably damaging	Het
Wt1	G	T	2: 105,144,141		probably null	Het
Xylt1	T	A	7: 117,650,685	I694N	probably damaging	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	Het

Other mutations in Slc35f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20