Mutagenetix > Incidental Mutation

Incidental Mutation 'R4425:Slc35f4'

328125

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

MMRRC Submission

041144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R4425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49318850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 149 (V149I)

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: V149I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: V149I

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: V149I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: V149I

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

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852

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

possibly damaging
Transcript: ENSMUST00000146164
AA Change: V149I

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1155

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,346,044	T1456A	probably damaging	Het
Acad11	T	C	9: 104,073,645	F56S	probably damaging	Het
Adamts8	A	G	9: 30,956,656	N592S	possibly damaging	Het
Amh	A	G	10: 80,806,921	D313G	probably damaging	Het
Ampd2	T	C	3: 108,086,736		probably benign	Het
Arap3	A	G	18: 37,978,600	L1115P	probably damaging	Het
Arfgap1	C	A	2: 180,981,076	D327E	probably benign	Het
Capns2	T	A	8: 92,901,624	I47N	possibly damaging	Het
Cd163	T	C	6: 124,327,903	S1080P	possibly damaging	Het
Ceacam10	A	T	7: 24,781,008	Y68F	possibly damaging	Het
Cep44	G	A	8: 56,538,617	P317S	probably benign	Het
Cfh	A	T	1: 140,100,875	Y688*	probably null	Het
Chrnb1	A	T	11: 69,786,947	S326R	probably damaging	Het
Cngb1	C	T	8: 95,299,716	V25M	probably damaging	Het
Cyp2c50	A	T	19: 40,090,692	N160Y	possibly damaging	Het
Dalrd3	T	C	9: 108,571,601		probably benign	Het
Eef1d	C	A	15: 75,902,799	S253I	possibly damaging	Het
Efl1	G	A	7: 82,763,283	C960Y	probably damaging	Het
Elmo1	C	G	13: 20,600,212	Y646*	probably null	Het
Epb41l2	C	A	10: 25,506,180	D701E	possibly damaging	Het
Fbxl4	T	A	4: 22,422,699		probably null	Het
Fhod1	T	C	8: 105,337,351		probably benign	Het
Gm21761	C	A	13: 119,912,372	L127F	probably damaging	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Igkv10-95	A	T	6: 68,680,622	I21F	probably damaging	Het
Il10rb	C	A	16: 91,407,715	N51K	possibly damaging	Het
Krt78	T	C	15: 101,947,940	T479A	probably benign	Het
Lrig3	T	C	10: 126,013,404	S998P	probably benign	Het
Lrrc8c	T	A	5: 105,607,889	M510K	probably benign	Het
Nfrkb	G	T	9: 31,399,962	C369F	probably damaging	Het
Nphp1	T	C	2: 127,788,799	E19G	possibly damaging	Het
Olfr1307	T	C	2: 111,945,189	H89R	probably benign	Het
Olfr713	A	C	7: 107,036,491	E112A	probably damaging	Het
Ovol3	A	T	7: 30,235,364		probably null	Het
Ppp1r16b	C	T	2: 158,757,254	T382I	probably benign	Het
Rims2	T	C	15: 39,437,924		probably null	Het
Sh3rf3	T	C	10: 59,083,576	V505A	probably benign	Het
Shkbp1	T	C	7: 27,343,302	N570S	probably benign	Het
Snx27	A	G	3: 94,562,023	F4L	probably benign	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Tagap1	G	A	17: 6,956,112	S395L	probably benign	Het
Tek	A	G	4: 94,863,667	T1014A	probably damaging	Het
Top2a	A	G	11: 99,001,405	I1077T	probably benign	Het
Tpo	T	C	12: 30,104,016	Y230C	probably damaging	Het
Trav12-2	A	G	14: 53,616,875	Q102R	possibly damaging	Het
Ttn	G	A	2: 76,903,086		probably benign	Het
Vmn1r183	A	T	7: 24,055,548	I259F	probably benign	Het
Vmn1r228	T	C	17: 20,776,599	E219G	probably damaging	Het
Vsig8	G	T	1: 172,563,147	G254V	probably damaging	Het
Vwa8	A	G	14: 79,082,806	I1086V	probably benign	Het
Zfp423	G	A	8: 87,782,973	H123Y	probably damaging	Het
Zfp811	A	T	17: 32,797,547	C506*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGACCTGAGGTAAGGGACAC -3'
(R):5'- GCTGACACATCTGACTGCTC -3'

Sequencing Primer
(F):5'- TAAGGGGGCTCATCCTGCTTC -3'
(R):5'- GACACATCTGACTGCTCCTCCAC -3'

Posted On

2015-07-07