Mutagenetix > Incidental Mutation

Incidental Mutation 'R4118:Slc35f1'

315177

Institutional Source

Beutler Lab

Gene Symbol

Slc35f1

Ensembl Gene

ENSMUSG00000038602

Gene Name

solute carrier family 35, member F1

Synonyms

MMRRC Submission

041631-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53089368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 293 (M293T)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

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

AlphaFold

Q8BGK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105473
AA Change: M293T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: M293T

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

0.6163

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

92% (55/60)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,579,854 (GRCm38)	R31G	possibly damaging	Het
4932414N04Rik	C	T	2: 68,736,513 (GRCm38)	R419C	probably benign	Het
Ankmy1	T	C	1: 92,888,696 (GRCm38)	E232G	possibly damaging	Het
Arhgef4	A	T	1: 34,732,347 (GRCm38)	K1245M	probably damaging	Het
Atp2c1	A	G	9: 105,466,659 (GRCm38)	L83P	probably damaging	Het
Atp9b	T	C	18: 80,749,829 (GRCm38)	D1000G	possibly damaging	Het
Atxn7	T	C	14: 14,100,308 (GRCm38)	S665P	probably benign	Het
Bbs4	T	C	9: 59,330,425 (GRCm38)	Y212C	possibly damaging	Het
Cars	A	G	7: 143,559,647 (GRCm38)		probably null	Het
Cep162	T	C	9: 87,204,176 (GRCm38)	T1032A	probably benign	Het
Chd7	G	A	4: 8,865,831 (GRCm38)	E668K	probably damaging	Het
Dek	T	C	13: 47,088,600 (GRCm38)	T201A	probably benign	Het
Depdc5	T	A	5: 32,964,635 (GRCm38)	S1079T	probably damaging	Het
Etaa1	A	T	11: 17,946,180 (GRCm38)	S646T	probably benign	Het
Fat1	T	C	8: 45,010,437 (GRCm38)	S1339P	probably damaging	Het
Fat1	C	A	8: 45,050,944 (GRCm38)	D4491E	probably damaging	Het
Gmps	T	C	3: 63,980,194 (GRCm38)	V29A	probably benign	Het
Gpr18	T	C	14: 121,912,556 (GRCm38)	E19G	probably benign	Het
Ipo5	A	G	14: 120,938,661 (GRCm38)	T633A	probably benign	Het
Jmjd1c	T	A	10: 67,219,753 (GRCm38)	S317R	probably damaging	Het
Lama3	T	A	18: 12,450,431 (GRCm38)	M692K	probably benign	Het
Lrp12	A	T	15: 39,877,965 (GRCm38)	C451*	probably null	Het
Lrp2	C	T	2: 69,430,262 (GRCm38)		probably null	Het
Myrfl	T	A	10: 116,828,965 (GRCm38)	I387F	probably damaging	Het
Naglu	G	A	11: 101,074,082 (GRCm38)	V332I	probably benign	Het
Nat2	G	A	8: 67,501,619 (GRCm38)	R127H	possibly damaging	Het
Otx2	G	A	14: 48,659,154 (GRCm38)	T141I	probably benign	Het
Paqr9	T	A	9: 95,560,899 (GRCm38)	I314N	probably damaging	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,775,354 (GRCm38)		probably benign	Het
Ppm1d	A	G	11: 85,311,582 (GRCm38)	D37G	probably benign	Het
Prdm9	T	G	17: 15,544,013 (GRCm38)	D835A	probably benign	Het
Ptprq	A	G	10: 107,711,920 (GRCm38)	S206P	probably benign	Het
Rapgef2	A	G	3: 79,068,887 (GRCm38)		probably null	Het
Rpgrip1l	G	A	8: 91,252,907 (GRCm38)	T969I	probably benign	Het
Rpp40	A	G	13: 35,896,804 (GRCm38)	Y316H	probably damaging	Het
Serpinb3d	A	T	1: 107,079,230 (GRCm38)	D249E	possibly damaging	Het
Slc22a29	A	C	19: 8,160,529 (GRCm38)		probably benign	Het
Slmap	A	T	14: 26,482,872 (GRCm38)	L98H	probably damaging	Het
Tiam1	C	T	16: 89,877,033 (GRCm38)		probably null	Het
Tlr11	A	G	14: 50,363,227 (GRCm38)	Y890C	probably damaging	Het
Tmem131l	T	C	3: 83,960,767 (GRCm38)	T194A	probably benign	Het
Ubap1	A	T	4: 41,371,767 (GRCm38)	D26V	probably damaging	Het
Vmn2r91	T	A	17: 18,110,096 (GRCm38)	N547K	probably damaging	Het
Wiz	C	T	17: 32,369,357 (GRCm38)		probably benign	Het
Wwp2	A	G	8: 107,545,459 (GRCm38)	T399A	probably benign	Het
Zfp729b	A	T	13: 67,592,710 (GRCm38)	F479I	possibly damaging	Het
Zswim5	G	A	4: 116,986,819 (GRCm38)	R1018H	possibly damaging	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
R0884:Slc35f1	UTSW	10	53,089,347 (GRCm38)	missense	probably damaging	1.00
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
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'- ATGTGCCAGCTCATATTAAACACC -3'
(R):5'- AGCTGGATTCCCATTTACCAC -3'

Sequencing Primer
(F):5'- TACTGAAGATGCCCCACA -3'
(R):5'- GCTGGATTCCCATTTACCACATAAAG -3'

Posted On

2015-05-14