Mutagenetix > Incidental Mutation

Incidental Mutation 'R9198:Slc35f4'

698067

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: 0.151) question?

Stock #

R9198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49318920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 9 (S9P)

Ref Sequence

ENSEMBL: ENSMUSP00000119007 (fasta)

Gene Model

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

AlphaFold

Q8BZK4

Predicted Effect

silent
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

silent
Transcript: ENSMUST00000123534

SMART Domains

Protein: ENSMUSP00000122405
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
transmembrane domain	217	234	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
transmembrane domain	274	296	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000138884
AA Change: S9P

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: S9P

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

silent
Transcript: ENSMUST00000146164

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts9	A	T	6: 92,860,189	S1164T	probably benign	Het
Bcat1	A	T	6: 145,039,496	I140N	probably damaging	Het
Bod1l	T	C	5: 41,799,786	T2832A	probably benign	Het
Brca2	A	T	5: 150,536,512	E417D	possibly damaging	Het
Ccdc88b	T	C	19: 6,853,900	D558G	possibly damaging	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cenpf	G	T	1: 189,656,790	T1615K	probably damaging	Het
Cep250	T	C	2: 155,988,434		probably null	Het
Clec4d	T	C	6: 123,274,798	F213S	probably damaging	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Csmd1	G	A	8: 15,912,430	R3255W	probably damaging	Het
Ctsm	T	C	13: 61,539,798	D82G	probably damaging	Het
Cyp26a1	A	G	19: 37,698,342	T81A	probably damaging	Het
Dld	A	G	12: 31,340,886	V187A	probably benign	Het
Dmrt2	T	A	19: 25,678,113	Y359N	probably benign	Het
Dnah9	T	C	11: 65,955,744	N2914S	probably benign	Het
Dpyd	A	T	3: 118,759,654		probably null	Het
Fgl2	A	C	5: 21,372,922	Q69P	probably damaging	Het
Gadd45gip1	A	T	8: 84,834,151	I132F	probably damaging	Het
Gm15446	T	C	5: 109,942,877	C332R	probably damaging	Het
Gm15737	A	T	6: 92,879,659	E23V	unknown	Het
Gm5111	A	G	6: 48,590,103	H84R	unknown	Het
Golga3	G	A	5: 110,207,753	S991N	probably benign	Het
H2-M10.3	A	G	17: 36,368,027	Y50H	probably damaging	Het
Hivep2	C	T	10: 14,129,877	H740Y	probably benign	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Ints7	T	A	1: 191,619,760	S860R	probably benign	Het
Lipi	T	A	16: 75,565,573	T217S	possibly damaging	Het
Lrrc2	G	T	9: 110,962,654	C158F	probably benign	Het
Lrrc30	T	C	17: 67,631,859	D242G	probably benign	Het
Map1a	A	T	2: 121,303,373	M1557L	probably benign	Het
Matn2	A	G	15: 34,423,778	E594G	probably damaging	Het
Mfsd12	T	C	10: 81,362,710	L345P	probably damaging	Het
Mmp24	A	G	2: 155,798,121	R124G	probably benign	Het
Ngef	T	A	1: 87,479,075	H240L	unknown	Het
Nmur1	T	G	1: 86,387,534	D203A	probably benign	Het
Nt5c3	T	C	6: 56,882,970	Q328R	probably benign	Het
Ogfr	T	C	2: 180,591,057		probably null	Het
Olfr187	A	G	16: 59,035,900	V279A	probably benign	Het
Olfr655	T	A	7: 104,596,428	Y251F	probably damaging	Het
Olfr728	A	T	14: 50,140,533	Y35*	probably null	Het
Osbpl10	G	A	9: 115,232,143	W588*	probably null	Het
Pask	A	T	1: 93,337,483	S17T	possibly damaging	Het
Pfkfb3	C	T	2: 11,486,273	R170K	probably damaging	Het
Plec	A	G	15: 76,185,737	C960R	unknown	Het
Pramef6	T	A	4: 143,897,076	N176I	probably benign	Het
R3hdm2	T	G	10: 127,457,652	S142A	probably damaging	Het
Rfx7	T	C	9: 72,616,881	L451P	probably damaging	Het
Rimbp2	T	A	5: 128,806,488	E76V	probably damaging	Het
Rock2	A	G	12: 16,965,556	N818S	probably benign	Het
Ryk	A	T	9: 102,881,655	I248F	possibly damaging	Het
Setd2	A	G	9: 110,549,100	Q661R	possibly damaging	Het
Siae	T	C	9: 37,627,809	V172A	probably benign	Het
Smg1	T	C	7: 118,195,956	E456G	unknown	Het
Srgap3	C	T	6: 112,766,904	A458T	probably damaging	Het
Tgfbrap1	T	A	1: 43,054,639	R564S	probably damaging	Het
Usp15	A	G	10: 123,168,238	Y204H	probably damaging	Het
Usp35	A	G	7: 97,313,069	Y527H	probably damaging	Het
Usp8	T	A	2: 126,758,604	*1092K	probably null	Het
Vmn2r73	A	T	7: 85,869,779	M545K	probably benign	Het
Ylpm1	A	T	12: 85,033,915		probably null	Het
Zscan22	G	T	7: 12,907,203	R458L	probably 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
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
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
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'- CATTGAACATGGAACCTACCTG -3'
(R):5'- ATCAGGCTTGTAGTTACACGC -3'

Sequencing Primer
(F):5'- GCGACTGCTTTTCTTGAGC -3'
(R):5'- GCTTGTAGTTACACGCATCTTC -3'

Posted On

2022-02-07