Mutagenetix > Incidental Mutation

Incidental Mutation 'R0884:Slc35f1'

81067

Institutional Source

Beutler Lab

Gene Symbol

Slc35f1

Ensembl Gene

ENSMUSG00000038602

Gene Name

solute carrier family 35, member F1

Synonyms

MMRRC Submission

039051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53089347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 286 (Y286F)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

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

AlphaFold

Q8BGK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105473
AA Change: Y286F

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

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: Y286F

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

Meta Mutation Damage Score

0.1058

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,553,288 (GRCm38)	I844N	possibly damaging	Het
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059 (GRCm38)		probably benign	Het
Adam6b	A	T	12: 113,490,995 (GRCm38)	R477S	probably damaging	Het
Aqp7	T	A	4: 41,034,929 (GRCm38)	T175S	possibly damaging	Het
Bclaf1	A	T	10: 20,322,076 (GRCm38)	R22*	probably null	Het
Bend7	A	T	2: 4,744,244 (GRCm38)	K57N	probably damaging	Het
Bicc1	A	C	10: 70,958,847 (GRCm38)	V160G	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cep72	A	G	13: 74,054,881 (GRCm38)		probably null	Het
Cobl	A	G	11: 12,375,908 (GRCm38)	I196T	possibly damaging	Het
Cux1	T	G	5: 136,307,835 (GRCm38)	D941A	probably damaging	Het
Cyp2a12	T	C	7: 27,032,542 (GRCm38)	I236T	probably benign	Het
Depdc5	T	A	5: 32,917,978 (GRCm38)	V500D	possibly damaging	Het
Dhx35	T	C	2: 158,831,711 (GRCm38)	I354T	probably damaging	Het
Dnase1l2	A	G	17: 24,441,880 (GRCm38)	V170A	possibly damaging	Het
Eif4g3	C	A	4: 138,151,776 (GRCm38)	N588K	possibly damaging	Het
Epsti1	A	T	14: 77,931,275 (GRCm38)	R117S	probably damaging	Het
Fam53a	T	C	5: 33,600,816 (GRCm38)	E321G	probably benign	Het
Fat4	C	A	3: 38,982,858 (GRCm38)	T3553K	possibly damaging	Het
Fer1l4	T	C	2: 156,019,313 (GRCm38)	T1978A	possibly damaging	Het
Gabarapl2	A	T	8: 111,942,505 (GRCm38)	I32F	probably damaging	Het
Gje1	G	T	10: 14,716,740 (GRCm38)	S99R	possibly damaging	Het
Gosr1	A	G	11: 76,730,146 (GRCm38)	I239T	probably benign	Het
Gpnmb	T	C	6: 49,047,913 (GRCm38)	V293A	possibly damaging	Het
Hyi	T	A	4: 118,360,217 (GRCm38)	I62N	probably damaging	Het
Il4ra	A	G	7: 125,574,663 (GRCm38)	I267V	probably damaging	Het
Kcnd2	A	T	6: 21,216,541 (GRCm38)	Q81H	probably benign	Het
Ksr1	A	T	11: 79,021,503 (GRCm38)	H675Q	possibly damaging	Het
Lpcat4	A	G	2: 112,242,732 (GRCm38)	N208S	probably damaging	Het
Muc17	T	A	5: 137,142,298 (GRCm38)	T162S	possibly damaging	Het
Mup3	T	A	4: 62,087,174 (GRCm38)	I20F	possibly damaging	Het
Nebl	A	C	2: 17,411,118 (GRCm38)	S327A	probably benign	Het
Nfatc4	A	C	14: 55,826,644 (GRCm38)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,314,785 (GRCm38)	R271*	probably null	Het
Nol7	G	A	13: 43,400,615 (GRCm38)	V133I	probably benign	Het
Or1e1c	A	T	11: 73,374,889 (GRCm38)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,506,862 (GRCm38)	W28*	probably null	Het
Pde4d	A	T	13: 109,950,940 (GRCm38)	I670L	probably damaging	Het
Phlpp1	T	A	1: 106,389,665 (GRCm38)		probably null	Het
Pigz	A	G	16: 31,941,976 (GRCm38)		probably null	Het
Pramel21	A	G	4: 143,615,184 (GRCm38)	D61G	probably benign	Het
Prrg4	A	T	2: 104,839,362 (GRCm38)	Y137N	probably damaging	Het
Rbm28	A	T	6: 29,155,154 (GRCm38)	S217T	possibly damaging	Het
Ryr2	T	C	13: 11,554,529 (GRCm38)	D4963G	probably damaging	Het
Slc35b2	T	A	17: 45,566,825 (GRCm38)	F293I	probably damaging	Het
Slc6a18	G	T	13: 73,667,037 (GRCm38)	A384D	probably damaging	Het
St5	A	G	7: 109,557,345 (GRCm38)	L66P	probably damaging	Het
Syt9	A	G	7: 107,436,561 (GRCm38)	I262V	probably damaging	Het
Tln2	C	A	9: 67,370,733 (GRCm38)	R333L	probably damaging	Het
Tnrc6b	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAG	15: 80,902,555 (GRCm38)		probably benign	Het
Ttn	G	A	2: 76,751,066 (GRCm38)	T14834I	possibly damaging	Het
Uggt1	T	C	1: 36,175,078 (GRCm38)	S177G	probably benign	Het
Zfp454	A	G	11: 50,873,937 (GRCm38)	S223P	probably benign	Het
Zmat4	A	G	8: 24,015,127 (GRCm38)	T128A	probably benign	Het

Other mutations in Slc35f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Slc35f1	APN	10	53,062,452 (GRCm38)	missense	probably damaging	1.00
IGL01073:Slc35f1	APN	10	53,021,960 (GRCm38)	missense	probably benign	0.16
IGL01433:Slc35f1	APN	10	53,073,446 (GRCm38)	splice site	probably benign
IGL01566:Slc35f1	APN	10	53,089,455 (GRCm38)	missense	probably damaging	1.00
IGL02693:Slc35f1	APN	10	52,933,128 (GRCm38)	missense	probably damaging	1.00
IGL02870:Slc35f1	APN	10	52,933,207 (GRCm38)	missense	possibly damaging	0.82
IGL03082:Slc35f1	APN	10	52,933,138 (GRCm38)	missense	probably benign
R1340:Slc35f1	UTSW	10	53,089,454 (GRCm38)	missense	probably damaging	1.00
R1781:Slc35f1	UTSW	10	53,062,436 (GRCm38)	splice site	probably null
R1813:Slc35f1	UTSW	10	52,933,195 (GRCm38)	missense	probably damaging	1.00
R1908:Slc35f1	UTSW	10	53,021,904 (GRCm38)	missense	possibly damaging	0.84
R2044:Slc35f1	UTSW	10	53,089,347 (GRCm38)	missense	probably damaging	1.00
R2518:Slc35f1	UTSW	10	53,073,534 (GRCm38)	missense	probably benign	0.07
R3872:Slc35f1	UTSW	10	53,021,910 (GRCm38)	missense	possibly damaging	0.87
R3934:Slc35f1	UTSW	10	53,108,218 (GRCm38)	missense	probably damaging	1.00
R3935:Slc35f1	UTSW	10	53,108,218 (GRCm38)	missense	probably damaging	1.00
R3936:Slc35f1	UTSW	10	53,108,218 (GRCm38)	missense	probably damaging	1.00
R4118:Slc35f1	UTSW	10	53,089,368 (GRCm38)	missense	probably damaging	0.98
R4921:Slc35f1	UTSW	10	53,062,602 (GRCm38)	missense	probably damaging	0.99
R5116:Slc35f1	UTSW	10	53,021,895 (GRCm38)	missense	probably benign	0.39
R5378:Slc35f1	UTSW	10	52,691,061 (GRCm38)	missense	possibly damaging	0.86
R5387:Slc35f1	UTSW	10	53,108,164 (GRCm38)	missense	probably damaging	1.00
R5500:Slc35f1	UTSW	10	52,933,222 (GRCm38)	missense	probably damaging	0.99
R5590:Slc35f1	UTSW	10	53,108,178 (GRCm38)	missense	possibly damaging	0.63
R5743:Slc35f1	UTSW	10	53,089,450 (GRCm38)	missense	probably benign	0.06
R5916:Slc35f1	UTSW	10	52,933,221 (GRCm38)	nonsense	probably null
R6985:Slc35f1	UTSW	10	53,021,911 (GRCm38)	missense	probably benign	0.02
R7068:Slc35f1	UTSW	10	53,062,500 (GRCm38)	missense	probably damaging	1.00
R7295:Slc35f1	UTSW	10	53,062,541 (GRCm38)	missense	probably benign	0.00
R7427:Slc35f1	UTSW	10	53,089,414 (GRCm38)	missense	probably damaging	1.00
R7428:Slc35f1	UTSW	10	53,089,414 (GRCm38)	missense	probably damaging	1.00
R8334:Slc35f1	UTSW	10	53,108,148 (GRCm38)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- ACCTGCATAGATAACCATTCAGAGCAGT -3'
(R):5'- CCGATTCAACGTACCTTGTAGTGGAAGA -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CCTTGTAGTGGAAGAGAAAGAGTCC -3'

Posted On

2013-11-07