Mutagenetix > Incidental Mutation

Incidental Mutation 'R4420:Slc35f4'

327064

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

MMRRC Submission

041141-MU

Accession Numbers

Essential gene?

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

Stock #

R4420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 49313577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852

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

unknown
Transcript: ENSMUST00000123534
AA Change: C277S

SMART Domains

Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: C277S

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

probably benign
Transcript: ENSMUST00000146164

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef17	G	A	7: 100,882,308		probably benign	Het
Atp1b1	T	C	1: 164,453,558	T53A	probably damaging	Het
Carmil3	A	G	14: 55,493,588	Q104R	probably damaging	Het
Casz1	T	G	4: 148,948,918	N1382K	possibly damaging	Het
Chfr	T	A	5: 110,170,880	C585*	probably null	Het
Chp2	T	C	7: 122,221,938	F174S	probably damaging	Het
Dclre1c	A	T	2: 3,433,745		probably null	Het
Dnah6	A	G	6: 73,191,479	V487A	probably benign	Het
Dnah9	T	C	11: 66,118,749	R771G	probably benign	Het
Duox1	G	A	2: 122,327,126	A578T	probably benign	Het
Elp3	G	A	14: 65,580,791	A140V	probably damaging	Het
Fbrsl1	T	C	5: 110,378,986	H387R	possibly damaging	Het
Gnat3	T	C	5: 17,999,801	S151P	probably damaging	Het
Gucy1a2	T	A	9: 3,634,640	L228H	probably damaging	Het
Gzmn	A	T	14: 56,166,006	H215Q	probably benign	Het
Heg1	A	T	16: 33,727,435	E864V	probably benign	Het
Hoxb9	T	C	11: 96,271,981	V147A	probably benign	Het
Hsf5	T	G	11: 87,657,304	H604Q	probably benign	Het
Hus1	T	C	11: 9,000,133	E196G	probably damaging	Het
Il12rb2	G	T	6: 67,316,410		probably null	Het
Irs1	T	C	1: 82,288,450	S682G	possibly damaging	Het
Jcad	T	C	18: 4,676,032	S1265P	probably benign	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Matk	A	G	10: 81,262,457	S361G	possibly damaging	Het
Mroh5	TGGAG	TG	15: 73,783,074		probably benign	Het
Nceh1	A	G	3: 27,241,649	D353G	probably damaging	Het
Nqo1	C	T	8: 107,392,117		probably null	Het
Olfr1086	A	G	2: 86,676,919	V138A	possibly damaging	Het
Pcdh7	T	C	5: 58,129,170	I1196T	probably benign	Het
Pla2g4d	A	G	2: 120,284,163	V29A	probably benign	Het
Ppfibp1	T	A	6: 147,026,238	Y794*	probably null	Het
Prdx5	C	A	19: 6,907,964		probably null	Het
Psme4	C	T	11: 30,812,028	T456I	possibly damaging	Het
Ptprd	A	T	4: 76,039,377	S923R	possibly damaging	Het
Samd12	G	A	15: 53,860,259	R13W	probably damaging	Het
Smc1b	A	G	15: 85,112,830	Y530H	probably damaging	Het
Spata2l	T	C	8: 123,234,029	T174A	possibly damaging	Het
Sugct	C	T	13: 17,452,545	C241Y	probably damaging	Het
Tarbp1	G	T	8: 126,447,080	A965D	possibly damaging	Het
Tas1r3	A	G	4: 155,862,332	V272A	probably damaging	Het
Tas2r117	T	A	6: 132,803,349	L150*	probably null	Het
Trip10	C	T	17: 57,255,448	P322L	probably benign	Het
Wdfy3	A	C	5: 101,910,984	H1487Q	probably damaging	Het
Wdr95	G	A	5: 149,532,666	V8M	probably damaging	Het
Zc3h15	C	A	2: 83,658,012	A98E	probably damaging	Het
Zfp763	T	G	17: 33,018,481	K563N	probably benign	Het
Zmym2	G	A	14: 56,956,878	D1198N	probably damaging	Het
Zp1	C	T	19: 10,914,760		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
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'- ACTGCTGTAATCAACTGACTCC -3'
(R):5'- ATGGCCTGACACTGAAGCTC -3'

Sequencing Primer
(F):5'- TGTAATCAACTGACTCCCCAGCAG -3'
(R):5'- CTGACACTGAAGCTCTTTCTTAAAAG -3'

Posted On

2015-07-07