Mutagenetix > Incidental Mutation

Incidental Mutation 'R2380:Slc35f4'

248445

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

MMRRC Submission

040356-MU

Accession Numbers

Essential gene?

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

Stock #

R2380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 49306203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119007 (fasta)

Gene Model

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

AlphaFold

Q8BZK4

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000135254

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000228016

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 82,064,835	S978P	possibly damaging	Het
Ago3	G	A	4: 126,368,522	R412C	probably damaging	Het
Ampd3	C	T	7: 110,800,710	T344M	probably damaging	Het
Arl10	G	T	13: 54,575,149	V19L	probably benign	Het
Aspm	C	T	1: 139,479,348	A1991V	probably damaging	Het
Axdnd1	A	T	1: 156,365,651	D655E	probably benign	Het
Bdp1	T	C	13: 100,060,370	H1169R	probably benign	Het
Cacna1s	T	C	1: 136,095,848	F942L	probably damaging	Het
Camk2g	A	G	14: 20,739,387	I205T	probably damaging	Het
Cdh5	C	A	8: 104,125,672	H140N	possibly damaging	Het
Cog8	C	A	8: 107,056,361	G99W	probably damaging	Het
Csmd1	A	G	8: 16,190,087	C1104R	probably damaging	Het
Dhrs7c	G	A	11: 67,815,864	V283M	probably benign	Het
Emilin2	T	A	17: 71,310,224	Q64L	probably benign	Het
Enpp3	T	C	10: 24,776,872	E729G	probably benign	Het
Fam169a	T	A	13: 97,118,535		probably benign	Het
Gm7714	T	G	5: 88,282,554	M103R	probably benign	Het
Gm8979	T	C	7: 106,082,167	E627G	possibly damaging	Het
Hmcn1	T	A	1: 150,565,384	M5374L	probably benign	Het
Hsd17b1	A	T	11: 101,078,463	I8F	probably damaging	Het
Itgae	A	G	11: 73,145,569	E1111G	probably benign	Het
Kcmf1	A	G	6: 72,858,772		probably null	Het
Kdm1b	T	A	13: 47,073,755	F574L	probably damaging	Het
Lgr4	T	C	2: 110,012,393	Y908H	probably damaging	Het
Lig1	T	C	7: 13,303,796		probably benign	Het
Ltbp3	C	A	19: 5,751,523	C698*	probably null	Het
Ncor2	A	G	5: 125,036,080	V1216A	possibly damaging	Het
Olfr1156	T	C	2: 87,949,397	T279A	probably damaging	Het
Olfr1463	T	C	19: 13,234,721	V157A	probably benign	Het
Olfr594	A	T	7: 103,220,608	T297S	possibly damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Ppp5c	A	G	7: 17,006,115	Y434H	probably damaging	Het
Pwwp2b	A	G	7: 139,255,450	E269G	probably damaging	Het
Rgs3	A	T	4: 62,625,887	T299S	probably benign	Het
Skint5	G	A	4: 113,546,536	T1163I	unknown	Het
Trmt5	A	G	12: 73,285,114	I4T	probably benign	Het
Ttc7b	A	G	12: 100,355,001		probably null	Het
Utp6	A	G	11: 79,936,005	S582P	possibly damaging	Het
Zbtb41	T	C	1: 139,423,814	S222P	probably damaging	Het
Zfp988	A	C	4: 147,332,785	K559Q	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
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'- GGATCCATGGCATGTAAGGAC -3'
(R):5'- CAGCTTTCATGGGGCTTACATG -3'

Sequencing Primer
(F):5'- GGACATGTCAACAGGGTGAAATTTTC -3'
(R):5'- CATGGGTTGATCTGGGATAAGAAATC -3'

Posted On

2014-11-11