Mutagenetix > Incidental Mutation

Incidental Mutation 'R1884:Slc35f4'

209387

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

MMRRC Submission

039905-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R1884 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49313634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 108 (W108R)

Ref Sequence

ENSEMBL: ENSMUSP00000119007 (fasta)

Gene Model

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

AlphaFold

Q8BZK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000074368
AA Change: W258R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: W258R

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 damaging
Transcript: ENSMUST00000123534
AA Change: W258R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: W258R

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 damaging
Transcript: ENSMUST00000138884
AA Change: W108R

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

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: W108R

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 benign
Transcript: ENSMUST00000146164

Meta Mutation Damage Score

0.7635

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

99% (94/95)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 104,114,485	M573T	probably benign	Het
Ank3	A	G	10: 70,015,592	T1162A	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arpp21	T	A	9: 112,143,527	D232V	probably damaging	Het
Atg2a	T	C	19: 6,254,384	Y1144H	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Brs3	T	C	X: 57,047,089	I311T	probably benign	Het
Cenpf	C	T	1: 189,646,849	V2915I	probably benign	Het
Cep170	G	T	1: 176,774,679	T287K	probably benign	Het
Chst2	G	A	9: 95,405,558	T245I	probably damaging	Het
Cnot4	C	T	6: 35,078,157	V66I	probably damaging	Het
Cntn4	A	G	6: 106,679,392	T885A	probably benign	Het
Col20a1	C	T	2: 180,992,910	T131I	possibly damaging	Het
Coro7	G	T	16: 4,628,819		probably benign	Het
Cpne8	C	A	15: 90,648,628		probably benign	Het
Dbnl	G	A	11: 5,799,247	G356E	probably benign	Het
Ddx31	T	A	2: 28,858,990	I266N	probably damaging	Het
Dnah7a	A	T	1: 53,541,000	I1592N	probably damaging	Het
Dok6	A	T	18: 89,474,006	L149Q	probably damaging	Het
Eri2	G	A	7: 119,791,123	T94I	probably benign	Het
Ermp1	A	G	19: 29,616,679	V697A	probably benign	Het
Foxc1	C	T	13: 31,807,665	T153M	probably damaging	Het
Fry	A	G	5: 150,403,520	I1224V	probably benign	Het
Fzd5	G	A	1: 64,735,654	T316M	probably damaging	Het
Gcm1	G	T	9: 78,059,579	V27L	probably benign	Het
Gm5773	A	T	3: 93,774,041	D340V	probably benign	Het
Gucy2d	T	A	7: 98,451,608	H379Q	probably benign	Het
Hectd1	T	A	12: 51,800,955	M392L	probably benign	Het
Itpr2	A	C	6: 146,385,971	D452E	probably benign	Het
Krtap2-4	G	C	11: 99,614,679		probably benign	Het
Lrit1	T	C	14: 37,061,753	V346A	possibly damaging	Het
Lrrk1	A	G	7: 66,262,437	S1792P	probably benign	Het
Marveld2	A	T	13: 100,600,621	V168E	probably benign	Het
Ms4a4b	T	A	19: 11,461,265	D149E	probably damaging	Het
Myom2	G	A	8: 15,114,278	D1058N	probably benign	Het
Ncam2	C	T	16: 81,437,683	P142L	probably damaging	Het
Nek9	A	G	12: 85,332,556	L192P	probably damaging	Het
Nol10	T	C	12: 17,368,389		probably null	Het
Nrcam	T	C	12: 44,544,755	V194A	probably damaging	Het
Nudt6	A	G	3: 37,412,400	V82A	probably benign	Het
Odf2l	A	T	3: 145,151,048	N492I	probably damaging	Het
Olfr446	T	C	6: 42,927,830	S200P	probably damaging	Het
Olfr583	T	C	7: 103,051,982	I228T	probably benign	Het
Pkn3	T	C	2: 30,082,828	V276A	probably damaging	Het
Prl3b1	T	G	13: 27,247,903	L137R	possibly damaging	Het
Rab11fip2	A	G	19: 59,937,330	F10L	probably damaging	Het
Rab3b	T	A	4: 108,929,452	V133E	probably damaging	Het
Rnf111	A	T	9: 70,476,238	S138T	probably damaging	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Runx1t1	A	G	4: 13,835,767	T75A	probably benign	Het
Ryr2	T	G	13: 11,738,356	K1693T	probably damaging	Het
Sdha	A	T	13: 74,333,136	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,765,778	D274V	possibly damaging	Het
Setd2	T	G	9: 110,556,418		probably null	Het
Sh3tc2	A	G	18: 62,008,575	Y1109C	probably damaging	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Slc22a2	A	G	17: 12,614,826		probably benign	Het
Slc4a1ap	A	G	5: 31,534,180	E440G	probably damaging	Het
Slc6a4	A	G	11: 77,013,375	T219A	probably benign	Het
Stxbp5	C	A	10: 9,812,298	V420F	possibly damaging	Het
Svil	T	G	18: 5,094,640	V1440G	possibly damaging	Het
Tas2r126	A	T	6: 42,435,027	T165S	probably benign	Het
Tbck	T	C	3: 132,724,916		probably null	Het
Tnxb	T	A	17: 34,689,565	D1520E	probably benign	Het
Top1mt	C	T	15: 75,667,901	R287H	possibly damaging	Het
Trdn	A	G	10: 33,257,095	K314E	probably benign	Het
Troap	T	A	15: 99,077,898	C233S	probably benign	Het
Usp28	T	C	9: 49,035,947	M571T	probably damaging	Het
Vac14	A	G	8: 110,711,687	H644R	probably damaging	Het
Vipr1	C	T	9: 121,665,864	P327L	possibly damaging	Het
Vmn1r31	C	T	6: 58,472,044	V279I	probably damaging	Het
Vmn1r69	G	A	7: 10,580,751	R18W	probably benign	Het
Vmn2r18	G	T	5: 151,575,725	Q425K	probably benign	Het
Vmn2r60	T	C	7: 42,136,670	V299A	probably damaging	Het
Vps13b	A	T	15: 35,430,291		probably benign	Het
Zfp157	A	G	5: 138,444,840	D31G	probably damaging	Het
Zfp385c	A	C	11: 100,630,706	V176G	probably benign	Het
Zfp831	A	G	2: 174,704,077	H1325R	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCGGGCTTTCCTAACACATC -3'
(R):5'- GCAATAGTGCCTGTGTATCAACC -3'

Sequencing Primer
(F):5'- CTTCCAATTGCAATTTGTACTCAG -3'
(R):5'- CTTTCCTAGGGAATGCAGTCG -3'

Posted On

2014-06-30