Mutagenetix > Incidental Mutation

Incidental Mutation 'R7295:Slc35f1'

566682

Institutional Source

Beutler Lab

Gene Symbol

Slc35f1

Ensembl Gene

ENSMUSG00000038602

Gene Name

solute carrier family 35, member F1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53062541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 190 (V190I)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

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

AlphaFold

Q8BGK5

Predicted Effect

probably benign
Transcript: ENSMUST00000105473
AA Change: V190I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: V190I

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	T	2: 155,045,758	D46V	probably damaging	Het
Acp7	A	T	7: 28,629,530	F75Y	possibly damaging	Het
Adamts19	T	A	18: 58,837,883	Y180N	probably damaging	Het
Adck1	G	T	12: 88,431,045	D150Y	probably damaging	Het
Alb	T	A	5: 90,462,834		probably null	Het
Baat	A	T	4: 49,490,275	Y270N	probably damaging	Het
Bmp7	A	T	2: 172,939,897	I58N	probably damaging	Het
Bpifb9a	C	T	2: 154,267,696	T504M	probably damaging	Het
Cbfa2t3	T	G	8: 122,638,029	D338A	probably benign	Het
Ccnd2	A	T	6: 127,148,762	C104S	possibly damaging	Het
Clip1	G	T	5: 123,627,356	Q713K	probably benign	Het
Ddx28	G	A	8: 106,010,844	S194L	probably benign	Het
Dync1h1	T	C	12: 110,664,749		probably null	Het
Edil3	T	A	13: 89,131,783	Y193*	probably null	Het
Eprs	A	G	1: 185,418,210		probably null	Het
Ercc6l2	T	G	13: 63,819,775	I63R	probably damaging	Het
Fam171a2	T	C	11: 102,438,238	E565G	possibly damaging	Het
Fbn1	T	A	2: 125,335,487	D1810V	probably damaging	Het
Foxj2	T	C	6: 122,840,231	S506P	probably benign	Het
Frmpd1	A	G	4: 45,285,700	E1507G	probably damaging	Het
Gfm1	G	A	3: 67,440,181	V258I	probably benign	Het
Gm9573	G	A	17: 35,618,869	A1475V	unknown	Het
Gphn	T	C	12: 78,492,102	V174A	probably benign	Het
Gtpbp3	C	A	8: 71,489,495	S123R	possibly damaging	Het
Hbs1l	T	C	10: 21,310,152	V491A	probably benign	Het
Hist1h2bg	T	C	13: 23,571,769	S113P	probably benign	Het
Hoxc12	A	G	15: 102,938,375	N234S	probably damaging	Het
Iltifb	A	T	10: 118,294,943	L16*	probably null	Het
Kcnj5	T	C	9: 32,322,791	D76G	probably damaging	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Lonp1	G	T	17: 56,622,495	Q181K	possibly damaging	Het
Mgst1	A	T	6: 138,147,756	I23F	probably benign	Het
Myocos	T	C	1: 162,657,118	R41G	unknown	Het
Myod1	A	G	7: 46,378,219	D261G	probably benign	Het
Nop14	C	T	5: 34,639,032	R781Q	probably damaging	Het
Nsmaf	A	G	4: 6,438,083	V63A	probably benign	Het
Ntsr1	A	T	2: 180,500,932	H172L	probably damaging	Het
Olfr731	T	C	14: 50,238,616	K90E	probably damaging	Het
Olfr905	A	T	9: 38,473,443	E232V	probably benign	Het
Pcdha11	T	C	18: 37,006,926	V536A	probably damaging	Het
Pcdha6	T	A	18: 36,968,136	N127K	probably damaging	Het
Prps1l1	T	A	12: 34,985,680	C265S	probably benign	Het
Prune2	A	G	19: 17,119,897	S922G	probably benign	Het
Qpctl	A	T	7: 19,149,130	M19K	probably benign	Het
Rad51	C	T	2: 119,134,118	T230I	possibly damaging	Het
Rad9b	A	G	5: 122,334,278	F246L	possibly damaging	Het
Rarb	A	T	14: 16,508,932		probably null	Het
Sdcbp2	T	C	2: 151,587,401	S214P	possibly damaging	Het
Slc22a1	T	A	17: 12,657,005	M441L	probably benign	Het
Spon1	A	T	7: 114,030,240	Q373L	possibly damaging	Het
Ssbp2	T	A	13: 91,694,003		probably null	Het
Sult1e1	T	A	5: 87,578,653	R201*	probably null	Het
Traj32	T	A	14: 54,186,149	L16Q		Het
Ttc16	T	C	2: 32,774,425	I67V	probably null	Het
Ttn	T	A	2: 76,726,555	K30035N	probably damaging	Het
Ttn	T	A	2: 76,946,129	Y1607F	unknown	Het
Usp16	G	A	16: 87,472,089	R290H	probably benign	Het
Utp3	G	C	5: 88,554,517		probably benign	Het
Xpnpep3	A	G	15: 81,414,534	H56R	probably damaging	Het
Zfp592	G	T	7: 81,024,322	D345Y	probably damaging	Het
Zfp931	A	T	2: 178,068,031	Y187*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAGGGGACTTTGACTGC -3'
(R):5'- GAACCAAGTTCCTAGGAGTCC -3'

Sequencing Primer
(F):5'- GCAAGTACTTTCCCTCGAAAAGCTTG -3'
(R):5'- AGGAGTCCTGTTTCTACCCAAGTG -3'

Posted On

2019-06-26