Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Slc35f3'

715713

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 #

R9475 (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 C at 126382254 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 181 (S181P)

Ref Sequence

ENSEMBL: ENSMUSP00000104390 (fasta)

Gene Model

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

AlphaFold

Q1LZI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000108759
AA Change: S181P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104390
Gene: ENSMUSG00000057060
AA Change: S181P

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: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc4a9	A	T	18: 36,529,216	E127V	probably null	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255	N269D	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
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
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'- AAGGTAAGTCATGGTTTGTATGAACCC -3'
(R):5'- TTCTGAGGATCAGGACCTCG -3'

Sequencing Primer
(F):5'- GTCATGGTTTGTATGAACCCAAGATG -3'
(R):5'- TGAGGATCAGGACCTCGGTCAG -3'

Posted On

2022-06-15