Mutagenetix > Incidental Mutation

Incidental Mutation 'R5116:Slc35f1'

394205

Institutional Source

Beutler Lab

Gene Symbol

Slc35f1

Ensembl Gene

ENSMUSG00000038602

Gene Name

solute carrier family 35, member F1

Synonyms

MMRRC Submission

042704-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5116 (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 53021895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 134 (I134T)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

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

AlphaFold

Q8BGK5

Predicted Effect

probably benign
Transcript: ENSMUST00000105473
AA Change: I134T

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: I134T

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

0.0838

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.5%

Validation Efficiency

97% (59/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,078,867 (GRCm38)	H429R	probably damaging	Het
Adam39	G	T	8: 40,825,001 (GRCm38)	C143F	probably damaging	Het
Adamts19	T	C	18: 58,902,994 (GRCm38)	V417A	possibly damaging	Het
Adcy10	C	A	1: 165,519,500 (GRCm38)	A362E	probably damaging	Het
Akap6	A	G	12: 53,141,515 (GRCm38)	E1904G	probably benign	Het
Aldh18a1	A	G	19: 40,553,505 (GRCm38)	M89T	probably benign	Het
Alyref	G	T	11: 120,597,728 (GRCm38)	F91L	probably benign	Het
Capn3	G	T	2: 120,485,292 (GRCm38)	M248I	probably benign	Het
Catsper4	A	T	4: 134,226,680 (GRCm38)	I56N	probably damaging	Het
Cckbr	T	A	7: 105,433,655 (GRCm38)	I75N	probably damaging	Het
Ccr8	T	C	9: 120,094,029 (GRCm38)	I70T	probably benign	Het
Cdh24	T	C	14: 54,636,413 (GRCm38)	D428G	probably benign	Het
Cdk5rap2	G	T	4: 70,307,238 (GRCm38)	Q557K	possibly damaging	Het
Clip1	C	T	5: 123,630,707 (GRCm38)	A610T	probably benign	Het
Dnajc16	A	T	4: 141,767,969 (GRCm38)	Y479*	probably null	Het
Fpr-rs3	A	G	17: 20,624,300 (GRCm38)	V193A	probably benign	Het
Gm29125	T	C	1: 80,383,973 (GRCm38)		noncoding transcript	Het
H1f4	A	G	13: 23,622,287 (GRCm38)	Y71H	probably damaging	Het
Ifi208	A	G	1: 173,677,983 (GRCm38)		probably benign	Het
Immp1l	G	A	2: 105,965,295 (GRCm38)	R155H	probably benign	Het
Itgad	C	A	7: 128,203,893 (GRCm38)	T7K	probably damaging	Het
Itgb3	T	C	11: 104,641,077 (GRCm38)	V370A	probably benign	Het
Jak1	A	G	4: 101,155,113 (GRCm38)	I1053T	probably benign	Het
Kif21b	A	G	1: 136,152,783 (GRCm38)	R572G	probably damaging	Het
Lama2	A	T	10: 27,118,560 (GRCm38)	D1784E	probably benign	Het
Ltbp2	A	T	12: 84,809,737 (GRCm38)	V651D	probably damaging	Het
Mrpl47	A	G	3: 32,733,601 (GRCm38)	L100S	probably damaging	Het
Mx1	T	G	16: 97,457,479 (GRCm38)	N6T	possibly damaging	Het
Nde1	T	A	16: 14,183,487 (GRCm38)	M133K	probably benign	Het
Nlrc5	T	C	8: 94,481,860 (GRCm38)	L778P	probably damaging	Het
Odad3	A	G	9: 21,990,128 (GRCm38)	*595Q	probably null	Het
Or52e19b	G	A	7: 103,383,864 (GRCm38)	T46I	probably benign	Het
Or5l13	G	A	2: 87,949,529 (GRCm38)	R235C	probably benign	Het
Or6c3b	A	G	10: 129,691,397 (GRCm38)	S215P	probably damaging	Het
Or7g31	A	G	9: 19,477,798 (GRCm38)	S151P	possibly damaging	Het
Or8b38	T	C	9: 38,061,338 (GRCm38)	V6A	probably benign	Het
Otog	T	C	7: 46,273,767 (GRCm38)	V1022A	probably benign	Het
Pcdhac1	G	A	18: 37,091,447 (GRCm38)	V438M	probably damaging	Het
Pcsk5	G	A	19: 17,463,434 (GRCm38)	S1264F	possibly damaging	Het
Pfas	T	C	11: 68,990,990 (GRCm38)		probably benign	Het
Pigr	T	A	1: 130,849,031 (GRCm38)	F648I	probably benign	Het
Pla2r1	A	C	2: 60,448,906 (GRCm38)	Y777D	probably damaging	Het
Pnpla7	G	T	2: 25,021,970 (GRCm38)	G716V	probably damaging	Het
Rab11fip5	C	T	6: 85,348,807 (GRCm38)	E206K	probably damaging	Het
S100a10	A	G	3: 93,560,940 (GRCm38)		probably null	Het
Smarcd1	C	T	15: 99,702,488 (GRCm38)	A56V	probably benign	Het
Snrk	A	G	9: 122,160,330 (GRCm38)	T247A	probably benign	Het
Srgap1	A	G	10: 121,792,379 (GRCm38)	L896P	possibly damaging	Het
Tmem19	A	T	10: 115,343,746 (GRCm38)	F167I	probably benign	Het
Tmprss11f	T	C	5: 86,539,696 (GRCm38)	S118G	probably benign	Het
Tnc	A	G	4: 63,967,215 (GRCm38)		probably null	Het
Trem3	T	C	17: 48,249,552 (GRCm38)	L17P	probably benign	Het
Upp2	A	G	2: 58,771,542 (GRCm38)	Y67C	probably damaging	Het
Zfp276	A	G	8: 123,264,977 (GRCm38)		probably benign	Het
Zfp932	T	A	5: 110,009,376 (GRCm38)	D280E	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
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
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
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'- ATGTGGGTTCTTTGATAGATGAACC -3'
(R):5'- TTGGCACTTGGAGACTTGCTC -3'

Sequencing Primer
(F):5'- GTGTAGGTACATAATGCAAC -3'
(R):5'- GGAGACTTGCTCTATTTTGAAGAAG -3'

Posted On

2016-06-15