Mutagenetix > Incidental Mutation

Incidental Mutation 'R5402:Slc35f4'

430072

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

MMRRC Submission

042973-MU

Accession Numbers

Essential gene?

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

Stock #

R5402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49318874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 141 (S141T)

Ref Sequence

ENSEMBL: ENSMUSP00000154089 (fasta)

Gene Model

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

AlphaFold

Q8BZK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074368
AA Change: S141T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: S141T

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

possibly damaging
Transcript: ENSMUST00000123534
AA Change: S141T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: S141T

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

probably benign
Transcript: ENSMUST00000138884
AA Change: I24N

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

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: I24N

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: S141T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,459,715	D4079E	probably benign	Het
Bcar1	T	C	8: 111,714,330	D344G	probably damaging	Het
Car9	A	G	4: 43,510,213	N265S	probably damaging	Het
Ccr7	A	G	11: 99,145,734	S121P	possibly damaging	Het
Cgnl1	A	G	9: 71,629,321	L1278P	probably damaging	Het
Chst9	A	T	18: 15,452,815	S230R	probably damaging	Het
Cped1	G	A	6: 22,143,952	V566M	probably benign	Het
Csf2	A	T	11: 54,247,663	Y117*	probably null	Het
Cwf19l1	C	T	19: 44,133,085		probably null	Het
Cyp2d34	C	T	15: 82,619,086	G69D	probably damaging	Het
Dync2h1	A	T	9: 7,114,949	V170E	probably damaging	Het
Ehbp1l1	T	A	19: 5,716,320	T388S	possibly damaging	Het
Etfa	T	C	9: 55,454,739	I329M	probably benign	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Fmnl2	G	A	2: 53,128,782	V1078I	probably damaging	Het
Fnip2	A	G	3: 79,480,943	L797P	possibly damaging	Het
Gm10130	A	G	2: 150,362,966	I67V	probably benign	Het
Gm13103	G	A	4: 143,851,655		probably null	Het
Gmeb2	A	T	2: 181,255,957		probably null	Het
Greb1l	A	G	18: 10,537,169	T1045A	probably benign	Het
Hapln1	A	G	13: 89,605,411	N232S	probably benign	Het
Hibadh	A	T	6: 52,546,980	M311K	probably benign	Het
Hus1	C	T	11: 9,010,240		probably null	Het
Il31ra	T	C	13: 112,524,135	E640G	probably benign	Het
L3mbtl4	T	C	17: 68,455,774	F101L	probably damaging	Het
Lbr	A	T	1: 181,819,961	M417K	probably benign	Het
Lrig3	T	G	10: 126,008,740	L691R	probably damaging	Het
Mcm3ap	T	A	10: 76,483,314	F792Y	probably benign	Het
Mst1	T	C	9: 108,084,209		probably null	Het
Nova2	C	A	7: 18,958,446	T500K	probably damaging	Het
Nxph4	A	T	10: 127,526,264	C253S	probably damaging	Het
Olfr1193	T	A	2: 88,678,148	S98T	possibly damaging	Het
Olfr31	T	C	14: 14,328,878	Y256H	probably damaging	Het
Pcdhga3	G	A	18: 37,675,694	R400Q	probably benign	Het
Pidd1	C	A	7: 141,438,594	A915S	probably damaging	Het
Plat	T	G	8: 22,772,722	W148G	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ptdss1	A	G	13: 66,933,599	D31G	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Samd8	A	G	14: 21,775,168	D64G	probably damaging	Het
Scgb1b20	A	G	7: 33,373,231		probably null	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc25a23	T	C	17: 57,053,336	I269V	probably benign	Het
Srgap1	T	C	10: 121,785,760	M966V	probably benign	Het
Syne2	T	A	12: 76,059,439	V5526E	probably damaging	Het
Tcaf3	A	G	6: 42,591,926	S596P	probably benign	Het
Tg	T	A	15: 66,739,168	I356N	probably damaging	Het
Ttc6	C	T	12: 57,737,031	R1759*	probably null	Het
Wdsub1	T	C	2: 59,870,478	N138D	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CATTGAACATGGAACCTACCTG -3'
(R):5'- ATCAGGCTTGTAGTTACACGC -3'

Sequencing Primer
(F):5'- GCTAGATGGCCGGAATAA -3'
(R):5'- GAAGCTGACACATCTGACTGCTC -3'

Posted On

2016-09-06