Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01640:Slc35f4'

93096

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: 0.181) question?

Stock #

IGL01640

Quality Score

Status

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 49318768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 176 (V176G)

Ref Sequence

ENSEMBL: ENSMUSP00000154089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074368] [ENSMUST00000123534] [ENSMUST00000138884] [ENSMUST00000146164]

AlphaFold

Q8BZK4

Predicted Effect

probably benign
Transcript: ENSMUST00000074368
AA Change: V176G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: V176G

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

probably benign
Transcript: ENSMUST00000123534
AA Change: V176G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: V176G

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
transmembrane domain	217	234	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
transmembrane domain	274	296	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135254

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138884
AA Change: V26G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: V26G

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

probably damaging
Transcript: ENSMUST00000146164
AA Change: V176G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,579,938	T3A	probably damaging	Het
4933402N03Rik	A	T	7: 131,139,119	S123T	possibly damaging	Het
Adamts17	A	T	7: 67,029,680	T559S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Arel1	G	A	12: 84,920,701	T783M	probably damaging	Het
B3gntl1	C	T	11: 121,673,020	E5K	probably benign	Het
Faf1	T	A	4: 109,840,403	F309I	probably damaging	Het
Fhod3	T	G	18: 25,115,793	M1343R	probably benign	Het
Fnbp1	A	G	2: 31,105,291	F44L	probably damaging	Het
Gm3633	A	T	14: 42,638,367	Y206*	probably null	Het
Gprc6a	A	C	10: 51,627,084	F228V	probably damaging	Het
Il31ra	T	C	13: 112,531,758	I453V	possibly damaging	Het
Kif2a	A	G	13: 106,974,552	I529T	probably damaging	Het
Lrrc19	C	T	4: 94,638,508	V271I	probably damaging	Het
Ncaph2	A	G	15: 89,363,838		probably null	Het
Nek5	A	G	8: 22,120,840	I49T	probably benign	Het
Nhlrc3	A	T	3: 53,453,537		probably benign	Het
Olfr616	A	G	7: 103,565,021	V86A	probably damaging	Het
Olfr659	A	T	7: 104,671,664	S321C	probably damaging	Het
Olfr945	C	A	9: 39,258,263	M136I	probably damaging	Het
Pcnx2	T	C	8: 125,801,558	T1308A	probably benign	Het
Pla2g6	T	C	15: 79,304,313	N448S	probably benign	Het
Pole	T	A	5: 110,298,266	L571Q	probably null	Het
Rufy1	A	G	11: 50,390,378		probably benign	Het
Sftpd	C	A	14: 41,172,635	A276S	probably benign	Het
Snrpb	T	C	2: 130,175,331	D89G	probably benign	Het
Stab2	A	T	10: 86,954,171	V577D	probably benign	Het
Synrg	A	C	11: 83,981,508	S152R	probably damaging	Het
Tcrg-V7	T	C	13: 19,178,090		probably benign	Het
Trpm1	A	G	7: 64,226,897	E682G	probably damaging	Het
Unc80	T	C	1: 66,679,585	I2989T	probably benign	Het
Vmn1r116	A	G	7: 20,872,448	T65A	probably benign	Het
Zfp469	G	A	8: 122,271,270		probably benign	Het

Other mutations in Slc35f4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Slc35f4	APN	14	49298877	missense	probably benign	0.15
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
IGL02803:Slc35f4	APN	14	49304257	missense	probably benign	0.00
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

2013-12-09