Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02803:Slc35f4'

360298

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL02803

Quality Score

Status

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49304257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 347 (I347V)

Ref Sequence

ENSEMBL: ENSMUSP00000073972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074368] [ENSMUST00000138884]

AlphaFold

Q8BZK4

Predicted Effect

probably benign
Transcript: ENSMUST00000074368
AA Change: I347V

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

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: I347V

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
transmembrane domain	160	182	N/A	INTRINSIC
Pfam:SLC35F	216	435	7.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135254

Predicted Effect

probably benign
Transcript: ENSMUST00000138884
AA Change: I197V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: I197V

Domain	Start	End	E-Value	Type
Pfam:EmrE	18	143	1e-12	PFAM
Pfam:EamA	57	135	8.4e-9	PFAM
Pfam:DUF914	68	314	4.8e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228016

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmo	C	T	12: 37,252,481	L106F	probably benign	Het
Appl1	A	G	14: 26,951,516	I208T	possibly damaging	Het
Arap2	G	T	5: 62,749,109	A189D	probably benign	Het
Arhgef12	T	C	9: 42,972,028	K1402E	possibly damaging	Het
C7	A	C	15: 5,049,560	F89V	probably damaging	Het
Camsap2	G	A	1: 136,281,123	T877I	probably damaging	Het
Cpt2	T	C	4: 107,907,386	T394A	probably benign	Het
Csnk2a1	G	T	2: 152,274,085		probably benign	Het
Dnah10	C	A	5: 124,798,014	T2528N	probably damaging	Het
Entpd8	G	T	2: 25,085,139	W494L	probably damaging	Het
Fam114a1	T	A	5: 65,005,792		probably benign	Het
Fat4	T	C	3: 38,889,295	V779A	probably damaging	Het
Gckr	T	C	5: 31,298,204	S34P	probably damaging	Het
Golga4	T	C	9: 118,535,460	V297A	probably benign	Het
Gpr65	T	C	12: 98,275,210	S41P	probably damaging	Het
Gps1	G	T	11: 120,786,823	A221S	probably damaging	Het
Heatr1	T	A	13: 12,433,986	S1861T	probably damaging	Het
Hmces	A	G	6: 87,925,729	E184G	probably damaging	Het
Itfg1	T	C	8: 85,725,511		probably null	Het
Mkl2	C	T	16: 13,403,156	T743I	possibly damaging	Het
Nfe2l3	A	G	6: 51,457,311	S284G	possibly damaging	Het
Nlrp2	C	A	7: 5,328,318	A360S	probably damaging	Het
Nop9	A	G	14: 55,750,076	H298R	probably benign	Het
Olfr1434	A	T	19: 12,283,983	S312C	possibly damaging	Het
Olfr183	T	A	16: 58,999,958	V91E	probably benign	Het
Olfr522	T	C	7: 140,162,374	D192G	possibly damaging	Het
Osgin1	A	G	8: 119,443,267	M158V	probably benign	Het
Patj	C	A	4: 98,426,064	Q374K	probably damaging	Het
Pck1	G	T	2: 173,156,004	G289W	probably damaging	Het
Phkg1	T	G	5: 129,866,054	I219L	possibly damaging	Het
Ppp1r15b	G	A	1: 133,133,343	A533T	probably damaging	Het
Ppwd1	T	C	13: 104,213,684	I398V	probably benign	Het
Prkdc	A	G	16: 15,833,666		probably benign	Het
Psg25	G	A	7: 18,526,287	L229F	possibly damaging	Het
Rps6ka1	T	A	4: 133,880,954	Q24L	probably benign	Het
Sgk3	T	C	1: 9,879,048	I147T	possibly damaging	Het
Slc25a24	T	A	3: 109,155,071	I159N	probably damaging	Het
Slc26a4	T	C	12: 31,522,527		probably null	Het
Spag17	A	T	3: 100,109,397	M2163L	probably benign	Het
Stab2	C	T	10: 86,950,269		probably benign	Het
Sult2a8	G	A	7: 14,411,705		probably benign	Het
Syne2	T	C	12: 76,031,546	L4718P	probably damaging	Het
Timd4	G	T	11: 46,815,694	G108W	probably damaging	Het
Timm9	T	C	12: 71,126,374		probably benign	Het
Vmn2r98	G	A	17: 19,066,013	V258I	probably benign	Het
Zcchc9	C	T	13: 91,800,881	V174I	probably benign	Het
Zdbf2	T	C	1: 63,303,077	V205A	possibly damaging	Het

Other mutations in Slc35f4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Slc35f4	APN	14	49298877	missense	probably benign	0.15
IGL01640:Slc35f4	APN	14	49318768	missense	probably damaging	0.99
IGL01942:Slc35f4	APN	14	49525505	splice site	probably benign
IGL01990:Slc35f4	APN	14	49304169	critical splice donor site	probably null
IGL02097:Slc35f4	APN	14	49306246	missense	probably damaging	1.00
R0005:Slc35f4	UTSW	14	49322486	splice site	probably benign
R0238:Slc35f4	UTSW	14	49304256	missense	possibly damaging	0.78
R0238:Slc35f4	UTSW	14	49304256	missense	possibly damaging	0.78
R0239:Slc35f4	UTSW	14	49304256	missense	possibly damaging	0.78
R0239:Slc35f4	UTSW	14	49304256	missense	possibly damaging	0.78
R0764:Slc35f4	UTSW	14	49306339	splice site	probably benign
R1884:Slc35f4	UTSW	14	49313634	missense	probably damaging	1.00
R1916:Slc35f4	UTSW	14	49303923	intron	probably benign
R2047:Slc35f4	UTSW	14	49303572	intron	probably benign
R2239:Slc35f4	UTSW	14	49306203	critical splice donor site	probably null
R2380:Slc35f4	UTSW	14	49306203	critical splice donor site	probably null
R4273:Slc35f4	UTSW	14	49304301	missense	possibly damaging	0.81
R4420:Slc35f4	UTSW	14	49313577	unclassified	probably benign
R4425:Slc35f4	UTSW	14	49318850	missense	possibly damaging	0.85
R5261:Slc35f4	UTSW	14	49303489	intron	probably benign
R5398:Slc35f4	UTSW	14	49298847	missense	probably damaging	1.00
R5402:Slc35f4	UTSW	14	49318874	missense	probably damaging	1.00
R6310:Slc35f4	UTSW	14	49322457	missense	probably damaging	1.00
R6596:Slc35f4	UTSW	14	49525600	missense	probably damaging	1.00
R6729:Slc35f4	UTSW	14	49318960	missense	probably benign	0.16
R6864:Slc35f4	UTSW	14	49318853	missense	possibly damaging	0.55
R7427:Slc35f4	UTSW	14	49298898	missense	probably damaging	0.99
R7428:Slc35f4	UTSW	14	49298898	missense	probably damaging	0.99
R7559:Slc35f4	UTSW	14	49304275	missense	probably benign	0.03
R7596:Slc35f4	UTSW	14	49306209	missense	probably damaging	1.00
R7722:Slc35f4	UTSW	14	49306274	missense	probably benign	0.22
R8263:Slc35f4	UTSW	14	49313627	missense	probably damaging	1.00
R8525:Slc35f4	UTSW	14	49304224	missense	possibly damaging	0.56
R9198:Slc35f4	UTSW	14	49318920	missense	unknown
R9615:Slc35f4	UTSW	14	49318849	missense	probably benign	0.00
R9751:Slc35f4	UTSW	14	49298834	missense	possibly damaging	0.49
R9772:Slc35f4	UTSW	14	49313718	missense	probably damaging	1.00

Posted On

2015-12-18