Mutagenetix > Incidental Mutation

Incidental Mutation 'R7428:Slc35f4'

576275

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 #

R7428 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49298898 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 427 (I427F)

Ref Sequence

ENSEMBL: ENSMUSP00000073972 (fasta)

Gene Model

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

AlphaFold

Q8BZK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000074368
AA Change: I427F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: I427F

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: ENSMUST00000138884
AA Change: I277F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: I277F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,092,509	Y63F	probably benign	Het
Atl2	T	C	17: 79,875,798		probably null	Het
B3gnt4	A	G	5: 123,510,731	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,225,122	M98I	probably benign	Het
Cacna2d3	A	G	14: 29,064,275	M585T	probably damaging	Het
Cbarp	T	C	10: 80,131,304	D701G	probably damaging	Het
Cep295	A	G	9: 15,333,498	S1221P	possibly damaging	Het
Cep350	T	C	1: 155,894,619	S1842G	probably benign	Het
Cntrl	T	A	2: 35,170,534	W1913R	probably benign	Het
Creb5	C	A	6: 53,681,158	Q158K	unknown	Het
Crtam	G	C	9: 40,981,182	A266G	probably benign	Het
Cry2	T	C	2: 92,413,047	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,023,850	F2044L	possibly damaging	Het
Cxcr6	A	T	9: 123,810,240	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,170,416	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,381,538	R154G	unknown	Het
Ddit4l	A	G	3: 137,626,170	E99G	probably damaging	Het
Dmbt1	A	T	7: 131,108,463	T1495S	possibly damaging	Het
Gm21886	A	T	18: 80,089,652	L97Q	probably damaging	Het
Hlcs	A	G	16: 94,267,899	V154A	probably benign	Het
Hpdl	A	T	4: 116,820,865	L133Q	probably damaging	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Ism2	G	T	12: 87,286,995	T92K	possibly damaging	Het
Kif13b	T	C	14: 64,788,460	I1422T	probably benign	Het
Leng8	C	T	7: 4,143,573	R395W	probably damaging	Het
Mocs2	A	G	13: 114,820,864	I6V	probably benign	Het
Mthfr	A	G	4: 148,051,603	M378V	probably benign	Het
Myh13	A	G	11: 67,332,564	T237A	probably damaging	Het
Nr1h4	T	C	10: 89,498,405	E41G	probably benign	Het
Nup205	T	A	6: 35,227,559	I1460N	probably damaging	Het
Nup98	A	T	7: 102,135,001		probably null	Het
Nxpe5	A	C	5: 138,239,760	Y194S	probably damaging	Het
Olfr1024	T	A	2: 85,904,131	R308*	probably null	Het
Olfr1032	A	T	2: 86,008,219	I148L	probably benign	Het
Olfr1121	G	T	2: 87,371,690	V53L	probably benign	Het
Olfr466	A	G	13: 65,153,052	Y276C	probably damaging	Het
Olfr554	A	G	7: 102,640,326	I27V	probably benign	Het
Otof	G	T	5: 30,389,825	D383E	probably damaging	Het
Pcdh9	G	T	14: 93,887,111	T541K	probably damaging	Het
Pclo	A	T	5: 14,750,517	I1179F		Het
Pde6c	T	C	19: 38,157,536		probably null	Het
Pdia6	T	C	12: 17,278,545	V167A	probably damaging	Het
Phf7	C	T	14: 31,240,413	R145Q	possibly damaging	Het
Plxnb1	T	C	9: 109,108,168	V1139A	probably benign	Het
Prkg1	T	C	19: 30,578,835	I585M	probably damaging	Het
Prom2	A	G	2: 127,539,811	L195P	probably damaging	Het
Ptprd	G	A	4: 76,086,468	P17S	probably benign	Het
Rfx4	C	A	10: 84,896,012	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,248,824	I15N	probably damaging	Het
Sap30	C	T	8: 57,487,512	V19M	possibly damaging	Het
Scrib	G	A	15: 76,061,198	T721M	probably damaging	Het
Slc12a1	C	A	2: 125,214,132	T861N	probably benign	Het
Slc35f1	T	A	10: 53,089,414	S308R	probably damaging	Het
Slco4c1	T	C	1: 96,837,520	T402A	possibly damaging	Het
Sprr2f	G	A	3: 92,365,944	V17M	unknown	Het
Stab1	T	C	14: 31,159,259	T605A	probably benign	Het
Taar8c	A	C	10: 24,101,548	L122R	probably damaging	Het
Tbc1d2	G	A	4: 46,649,965	P24S	probably benign	Het
Tex36	T	C	7: 133,595,137		probably null	Het
Tmem145	T	C	7: 25,307,165		probably null	Het
Ttn	T	G	2: 76,720,354	D31528A	probably damaging	Het
Vars2	A	T	17: 35,666,686	V118E	probably benign	Het
Vmn1r195	T	C	13: 22,278,852	V164A	probably benign	Het
Vmn2r69	T	C	7: 85,411,259	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wnt9b	T	C	11: 103,730,817	Q338R	probably benign	Het
Zfp128	A	G	7: 12,890,362	D219G	probably benign	Het
Zfp541	A	T	7: 16,092,868	R1181W	probably damaging	Het
Zfp867	C	T	11: 59,463,934	G190S	probably benign	Het
Zfp971	T	A	2: 178,033,174	C189S	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
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'- TTTCAAGCCAGCGGTATGG -3'
(R):5'- AAGGGCAAGTGTGATTTACAGC -3'

Sequencing Primer
(F):5'- CAGCGGTATGGACACTGTC -3'
(R):5'- TGTGATTTACAGCAAAGGAACG -3'

Posted On

2019-10-07