Mutagenetix > Incidental Mutation

Incidental Mutation 'R5856:Slc35f3'

454915

Institutional Source

Beutler Lab

Gene Symbol

Slc35f3

Ensembl Gene

ENSMUSG00000057060

Gene Name

solute carrier family 35, member F3

Synonyms

B230375D17Rik

MMRRC Submission

043230-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126298558-126395482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126321080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 53 (R53L)

Ref Sequence

ENSEMBL: ENSMUSP00000104390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108759]

AlphaFold

Q1LZI2

Predicted Effect

probably benign
Transcript: ENSMUST00000108759
AA Change: R53L

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104390
Gene: ENSMUSG00000057060
AA Change: R53L

Domain	Start	End	E-Value	Type
low complexity region	25	49	N/A	INTRINSIC
Pfam:EamA	67	223	3.2e-7	PFAM
Pfam:SLC35F	145	374	3.2e-6	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Adgrf5	A	G	17: 43,446,120	T497A	probably benign	Het
Ano5	T	C	7: 51,585,326	I669T	probably benign	Het
Arhgap11a	A	T	2: 113,833,771	N722K	possibly damaging	Het
Atm	A	T	9: 53,495,955	I1161K	possibly damaging	Het
Atp13a4	T	C	16: 29,433,987	T714A	possibly damaging	Het
BC051665	T	A	13: 60,784,500	M92L	probably benign	Het
Car3	G	A	3: 14,871,641	V255M	probably damaging	Het
Cnot11	C	A	1: 39,537,453	F179L	probably benign	Het
Dctn1	A	G	6: 83,197,865	Y1013C	probably damaging	Het
Gm19965	A	G	1: 116,821,849	D420G	probably benign	Het
Gm5444	A	G	13: 4,771,684		noncoding transcript	Het
Hydin	A	T	8: 110,541,842	D2946V	probably damaging	Het
Hyou1	C	T	9: 44,381,344	R119C	probably damaging	Het
Ighm	A	T	12: 113,421,602	L246Q	unknown	Het
Itpr3	A	G	17: 27,106,405	E1324G	probably damaging	Het
Loxl4	G	T	19: 42,595,366	Q749K	possibly damaging	Het
Muc2	C	A	7: 141,745,644		probably benign	Het
Myh11	T	C	16: 14,205,976	T1505A	probably benign	Het
Nsmce2	A	G	15: 59,378,943	E21G	probably damaging	Het
Olfr1220	T	A	2: 89,097,910	I6F	probably benign	Het
Olfr273	T	A	4: 52,856,516		probably benign	Het
Plaa	A	G	4: 94,583,487	I375T	probably benign	Het
Pou2f1	C	T	1: 165,915,130	A65T	probably benign	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rxfp1	T	A	3: 79,663,313	N271Y	possibly damaging	Het
Sema5b	T	G	16: 35,646,386	Y219*	probably null	Het
Slc44a5	T	C	3: 154,258,392	V465A	possibly damaging	Het
Slc9a5	A	G	8: 105,357,165	I446V	possibly damaging	Het
Slf1	A	T	13: 77,106,087	D204E	possibly damaging	Het
Sox5	T	A	6: 144,209,362	T3S	probably damaging	Het
Srr	G	A	11: 74,913,012	R40C	possibly damaging	Het
Tas2r115	T	A	6: 132,737,538	H150L	possibly damaging	Het
Tet2	A	G	3: 133,486,640	S678P	probably benign	Het
Tmem11	T	C	11: 60,864,858	K183E	probably damaging	Het
Upf1	T	C	8: 70,334,762		probably null	Het
Xpo6	A	T	7: 126,149,502		probably benign	Het
Zfp638	C	T	6: 83,977,065	S1384L	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Slc35f3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Slc35f3	APN	8	126382164	missense	probably benign	0.02
IGL00956:Slc35f3	APN	8	126382224	missense	probably damaging	1.00
IGL01105:Slc35f3	APN	8	126298814	missense	probably damaging	1.00
IGL01710:Slc35f3	APN	8	126389161	missense	probably benign	0.00
IGL01771:Slc35f3	APN	8	126389212	missense	probably benign	0.00
IGL02254:Slc35f3	APN	8	126389123	missense	probably damaging	1.00
IGL02610:Slc35f3	APN	8	126321217	missense	probably damaging	1.00
R1666:Slc35f3	UTSW	8	126389221	missense	probably damaging	0.98
R2510:Slc35f3	UTSW	8	126298706	start gained	probably benign
R2520:Slc35f3	UTSW	8	126394573	missense	possibly damaging	0.81
R3807:Slc35f3	UTSW	8	126389239	missense	probably damaging	1.00
R4644:Slc35f3	UTSW	8	126321070	missense	possibly damaging	0.87
R4675:Slc35f3	UTSW	8	126321196	nonsense	probably null
R4976:Slc35f3	UTSW	8	126389281	splice site	probably null
R5037:Slc35f3	UTSW	8	126389272	missense	probably damaging	0.99
R5225:Slc35f3	UTSW	8	126391107	missense	probably damaging	0.98
R5259:Slc35f3	UTSW	8	126389133	missense	probably damaging	1.00
R5925:Slc35f3	UTSW	8	126389207	missense	probably benign	0.24
R6254:Slc35f3	UTSW	8	126321094	missense	possibly damaging	0.96
R6748:Slc35f3	UTSW	8	126394638	nonsense	probably null
R6785:Slc35f3	UTSW	8	126394459	missense	probably benign	0.02
R7002:Slc35f3	UTSW	8	126389034	critical splice acceptor site	unknown
R7291:Slc35f3	UTSW	8	126394558	missense	probably benign	0.02
R7411:Slc35f3	UTSW	8	126389038	critical splice acceptor site	probably benign
R7456:Slc35f3	UTSW	8	126389040	critical splice acceptor site	unknown
R7790:Slc35f3	UTSW	8	126389038	critical splice acceptor site	probably benign
R7852:Slc35f3	UTSW	8	126394480	missense	probably damaging	1.00
R8000:Slc35f3	UTSW	8	126321073	missense	probably benign
R8277:Slc35f3	UTSW	8	126389186	missense	possibly damaging	0.88
R8827:Slc35f3	UTSW	8	126389041	critical splice acceptor site	probably benign
R8983:Slc35f3	UTSW	8	126389036	critical splice acceptor site	probably benign
R9205:Slc35f3	UTSW	8	126389189	missense	probably damaging	0.96
R9355:Slc35f3	UTSW	8	126382228	missense	probably damaging	0.97
R9475:Slc35f3	UTSW	8	126382254	missense	probably damaging	1.00
R9492:Slc35f3	UTSW	8	126321287	missense	probably damaging	1.00
R9714:Slc35f3	UTSW	8	126389042	critical splice acceptor site	probably benign
R9729:Slc35f3	UTSW	8	126389038	critical splice acceptor site	probably benign
R9769:Slc35f3	UTSW	8	126394597	missense	probably damaging	0.99
X0067:Slc35f3	UTSW	8	126382323	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTCCAGAGCATTACCCAGC -3'
(R):5'- CTTCTCTGTGGATTTGCACACATG -3'

Sequencing Primer
(F):5'- AGCATCCCACCTGCCTG -3'
(R):5'- CACATGTCCTGCGTAGTACAATGG -3'

Posted On

2017-02-10