Mutagenetix > Incidental Mutation

Incidental Mutation 'R6596:Slc35f4'

526007

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6596 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49525600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 5 (A5V)

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: A5V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: A5V

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: A5V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: A5V

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

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 damaging
Transcript: ENSMUST00000146164
AA Change: A5V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	A	9: 101,942,785	C135S	possibly damaging	Het
Bag4	C	T	8: 25,769,500	D224N	probably damaging	Het
Cldn15	T	A	5: 136,974,679	C178*	probably null	Het
Col7a1	C	A	9: 108,954,341		probably benign	Het
Crnn	G	A	3: 93,146,875	E22K	probably damaging	Het
Dcstamp	A	C	15: 39,754,209	T5P	possibly damaging	Het
Dennd4a	A	G	9: 64,852,420	Y269C	probably damaging	Het
Dsg1c	T	A	18: 20,270,524		probably null	Het
Duox2	C	T	2: 122,285,338	V972I	probably benign	Het
Ephb1	A	C	9: 102,194,802	Y259*	probably null	Het
Fam149a	G	T	8: 45,381,630	T44K	probably benign	Het
Fn1	A	G	1: 71,609,482	Y1423H	probably damaging	Het
Garem1	T	A	18: 21,148,739	I187F	probably damaging	Het
Gfm2	C	T	13: 97,165,149	P487S	probably damaging	Het
Gm5039	C	A	12: 88,321,287	L65F	possibly damaging	Het
Hyou1	A	G	9: 44,387,755	E625G	probably benign	Het
Kmt5a	G	A	5: 124,450,696	V121M	probably benign	Het
Mindy4	T	C	6: 55,224,016	S229P	probably damaging	Het
Muc16	T	C	9: 18,566,715	D7098G	probably benign	Het
Nsf	A	T	11: 103,910,457	I244N	probably damaging	Het
Obox1	C	T	7: 15,555,376	S72L	probably damaging	Het
Olfr1166	C	T	2: 88,124,199	C262Y	probably damaging	Het
Olfr1270	T	A	2: 90,149,278	T243S	possibly damaging	Het
Pcdhb7	A	T	18: 37,343,361	I517F	probably damaging	Het
Plk2	C	T	13: 110,397,762	A292V	probably benign	Het
Pomgnt2	T	C	9: 121,982,254	E487G	possibly damaging	Het
Rasgrf1	A	T	9: 90,012,794	N1089I	possibly damaging	Het
Robo2	T	A	16: 73,971,108	N603Y	probably damaging	Het
Smc4	A	T	3: 69,025,893	I616F	probably damaging	Het
Sorl1	T	G	9: 42,001,603	N1361H	possibly damaging	Het
Syngr1	C	T	15: 80,111,692	T144M	probably damaging	Het
Tbc1d16	A	C	11: 119,157,775	W351G	probably damaging	Het
Tbx15	A	G	3: 99,352,192	S460G	probably benign	Het
Tns2	G	A	15: 102,110,559	R395Q	probably benign	Het
Tpte	T	C	8: 22,333,269	L304P	probably damaging	Het
Tubgcp5	T	A	7: 55,806,634	F325I	probably benign	Het
Ucp3	A	T	7: 100,481,933	I198F	probably benign	Het
Vit	T	C	17: 78,622,845	V413A	probably benign	Het
Xrcc6	T	C	15: 82,022,954	M1T	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
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
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'- CAGTGTTTGTGAGGGAGCAGAC -3'
(R):5'- TGGCACAAGGGTTAACGGTG -3'

Sequencing Primer
(F):5'- CAGACAATGCTGCAGGTGTC -3'
(R):5'- CCAGGCTGACAGAAAGGCC -3'

Posted On

2018-06-22