Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Slc35f3'

566418

Institutional Source

Beutler Lab

Gene Symbol

Slc35f3

Ensembl Gene

ENSMUSG00000057060

Gene Name

solute carrier family 35, member F3

Synonyms

B230375D17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126298558-126395482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126394558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 386 (L386R)

Ref Sequence

ENSEMBL: ENSMUSP00000104390 (fasta)

Gene Model

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

AlphaFold

Q1LZI2

Predicted Effect

probably benign
Transcript: ENSMUST00000108759
AA Change: L386R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104390
Gene: ENSMUSG00000057060
AA Change: L386R

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,553	E51G	possibly damaging	Het
9530053A07Rik	A	C	7: 28,140,220	D486A	probably benign	Het
Abca14	C	A	7: 120,289,609	C1259*	probably null	Het
Ablim1	T	C	19: 57,215,908	E17G	probably benign	Het
Acsf3	G	A	8: 122,813,577	V505I	probably benign	Het
Actn1	T	C	12: 80,174,085	M650V	probably benign	Het
Adamts4	G	A	1: 171,256,528	V525I	probably benign	Het
Adh1	T	C	3: 138,282,808	Y181H	probably damaging	Het
Alpl	G	A	4: 137,752,698	R168W	probably damaging	Het
Ate1	T	G	7: 130,519,931	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,811,091	F314L	probably damaging	Het
Baiap3	T	A	17: 25,244,317	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,267,696	T504M	probably damaging	Het
C1s2	T	A	6: 124,625,384	I623F	probably benign	Het
Card11	T	C	5: 140,901,070	D308G	probably damaging	Het
Cul9	C	T	17: 46,540,433	V354I	probably benign	Het
Dnah1	A	T	14: 31,298,705	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590	I4266F	possibly damaging	Het
Ear10	A	T	14: 43,922,920	V150D	probably damaging	Het
Elfn2	C	T	15: 78,672,983	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895	H104Q	probably benign	Het
Fcgbp	A	G	7: 28,101,392	N1288D	probably benign	Het
Fcrl1	T	C	3: 87,385,781		probably null	Het
Fmo2	G	T	1: 162,887,702	P117Q	probably benign	Het
Fsip2	A	G	2: 82,980,519	K2394R	possibly damaging	Het
Gab1	T	G	8: 80,800,151	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,351,414	V248A	probably damaging	Het
Gemin6	T	C	17: 80,227,775	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,175,024	V701I	probably benign	Het
Gm3250	T	C	10: 77,782,227	T106A	unknown	Het
Gm7356	T	C	17: 14,001,581	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,902,840	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,325,729	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,925,339	L716S	probably damaging	Het
Hecw2	A	G	1: 53,914,594	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,974,815	S151N	probably benign	Het
Il15ra	C	T	2: 11,718,381	T72I	probably damaging	Het
Ints1	A	G	5: 139,765,074	L858P	probably damaging	Het
Kat2a	C	T	11: 100,710,900	V230I	possibly damaging	Het
Kcnq2	A	T	2: 181,088,379	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,679,046	T229I	possibly damaging	Het
Ly75	T	A	2: 60,329,993	I957F	probably damaging	Het
Map3k12	T	A	15: 102,502,166	R459W	probably damaging	Het
Mia2	T	A	12: 59,158,369		probably null	Het
Mrgprf	A	G	7: 145,307,469	I53V	unknown	Het
Mttp	A	G	3: 138,091,203	L846P	probably damaging	Het
Myrip	C	T	9: 120,417,141	L112F	probably damaging	Het
Nav1	A	G	1: 135,465,859	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,759,203	D327G	possibly damaging	Het
Notch1	C	T	2: 26,476,375	V776I	probably benign	Het
Obsl1	G	T	1: 75,489,517	D1522E	probably damaging	Het
Olfr1464-ps1	A	T	19: 13,282,153	F302I	unknown	Het
Olfr605	T	A	7: 103,442,788	M112L	probably benign	Het
Olfr823	T	C	10: 130,112,224	K189E	probably benign	Het
Olfr859	T	C	9: 19,808,648	M110T	possibly damaging	Het
Pde7a	T	C	3: 19,227,674	N471D	probably benign	Het
Pla2r1	T	C	2: 60,530,435	H203R	probably benign	Het
Plch2	C	A	4: 154,998,472	C573F	probably damaging	Het
Polr1a	G	A	6: 71,941,456	R666Q	probably benign	Het
Prepl	T	C	17: 85,081,240	N145S	probably benign	Het
Psen2	C	T	1: 180,238,956	V139M	probably benign	Het
Ptgdr	A	T	14: 44,859,192	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,691,239	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,032,298	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,969,462	M824K	probably benign	Het
Sel1l	T	C	12: 91,848,965	T23A	probably benign	Het
Sele	A	G	1: 164,053,868	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,197,839	N421D	probably damaging	Het
Stab2	G	A	10: 86,946,220	S699L	probably damaging	Het
Synrg	A	T	11: 84,009,381	L726F	probably damaging	Het
Syt3	G	A	7: 44,395,919	V528M	probably damaging	Het
Szt2	A	G	4: 118,391,249	I655T	probably damaging	Het
Tbr1	T	C	2: 61,812,256	S622P	probably damaging	Het
Tex36	C	T	7: 133,587,223	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,312,942	W13*	probably null	Het
Trdn	A	T	10: 33,437,736	E500V	probably null	Het
Ugt2b38	A	T	5: 87,411,895	N379K	probably damaging	Het
Unc13d	T	C	11: 116,074,050	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,278,749	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,574,209	I733V	probably benign	Het
Zfp870	T	A	17: 32,883,854	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,549,304	M179L	probably benign	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
R5856:Slc35f3	UTSW	8	126321080	missense	probably benign	0.07
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
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'- GTATCTCCACGTCCACAGACTG -3'
(R):5'- CCGTAGAACTTACTGCAGTTACC -3'

Sequencing Primer
(F):5'- TCCACAGACTGAGTAACCGGTG -3'
(R):5'- AACTGAGGTTCCTCCATCAGG -3'

Posted On

2019-06-26