Mutagenetix > Incidental Mutation

Incidental Mutation 'R7680:Slc35f2'

592708

Institutional Source

Beutler Lab

Gene Symbol

Slc35f2

Ensembl Gene

ENSMUSG00000042195

Gene Name

solute carrier family 35, member F2

Synonyms

1500009K05Rik

MMRRC Submission

045746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53678822-53725438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53715396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 214 (V214E)

Ref Sequence

ENSEMBL: ENSMUSP00000046528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048670]

AlphaFold

Q7TML3

Predicted Effect

probably damaging
Transcript: ENSMUST00000048670
AA Change: V214E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046528
Gene: ENSMUSG00000042195
AA Change: V214E

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:SLC35F	35	334	7.2e-148	PFAM
Pfam:CRT-like	47	255	4.5e-14	PFAM
Pfam:EamA	196	334	2.1e-10	PFAM
low complexity region	339	352	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,657,958 (GRCm39)	D104G	possibly damaging	Het
Ahi1	G	T	10: 20,883,667 (GRCm39)	C844F	possibly damaging	Het
Bspry	T	C	4: 62,414,828 (GRCm39)	*474Q	probably null	Het
Car9	T	A	4: 43,507,250 (GRCm39)	D65E	probably damaging	Het
Ccdc110	T	A	8: 46,394,688 (GRCm39)	M193K	possibly damaging	Het
Ccdc166	A	G	15: 75,853,056 (GRCm39)	S304P	possibly damaging	Het
Cdcp1	T	C	9: 123,012,584 (GRCm39)	Q321R	probably damaging	Het
Cic	T	C	7: 24,991,856 (GRCm39)	V2255A	probably damaging	Het
Cmc2	A	T	8: 117,620,849 (GRCm39)	M44K	probably damaging	Het
Crls1	A	G	2: 132,704,258 (GRCm39)	T223A	probably damaging	Het
Ctnna3	A	T	10: 64,323,329 (GRCm39)	H488L	probably benign	Het
Cyp2r1	A	T	7: 114,152,054 (GRCm39)	I301N	probably damaging	Het
Dkk3	A	T	7: 111,718,570 (GRCm39)	L272Q	probably damaging	Het
Dnah14	A	G	1: 181,513,365 (GRCm39)	N1906S	probably benign	Het
Gm13271	T	C	4: 88,673,367 (GRCm39)	V88A	probably benign	Het
Gphn	C	A	12: 78,459,148 (GRCm39)	L79I	probably benign	Het
Gpr15	A	T	16: 58,538,328 (GRCm39)	W254R	probably damaging	Het
H2-M2	T	C	17: 37,793,916 (GRCm39)	R103G	possibly damaging	Het
Hcn4	T	C	9: 58,767,954 (GRCm39)	S1172P	probably benign	Het
Htr1a	A	G	13: 105,581,539 (GRCm39)	S260G	probably benign	Het
Iftap	T	C	2: 101,440,901 (GRCm39)	E34G	probably damaging	Het
Kif21b	G	T	1: 136,075,607 (GRCm39)		probably null	Het
Lamp1	T	C	8: 13,217,812 (GRCm39)	Y131H	probably benign	Het
Lrrc47	A	C	4: 154,100,558 (GRCm39)	N378T	probably benign	Het
Manea	A	T	4: 26,340,649 (GRCm39)	H104Q	probably damaging	Het
Map4k3	A	G	17: 80,889,305 (GRCm39)	I888T	probably benign	Het
Mark3	T	C	12: 111,613,207 (GRCm39)	M557T	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myh6	C	A	14: 55,186,190 (GRCm39)	C1413F	possibly damaging	Het
Myorg	C	A	4: 41,497,978 (GRCm39)	D551Y	probably damaging	Het
Ncr1	T	A	7: 4,341,123 (GRCm39)	M38K	possibly damaging	Het
Nid2	A	G	14: 19,829,715 (GRCm39)	T669A	probably damaging	Het
Or6e1	T	A	14: 54,519,837 (GRCm39)	I172F	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekha7	A	G	7: 115,763,511 (GRCm39)	Y364H	probably benign	Het
Plxnb1	T	A	9: 108,929,571 (GRCm39)	Y142*	probably null	Het
Ptprn	T	C	1: 75,224,537 (GRCm39)	I940V	probably benign	Het
Rnf213	T	C	11: 119,370,382 (GRCm39)	V4728A		Het
Samd9l	A	T	6: 3,372,569 (GRCm39)	L1564Q	probably damaging	Het
Samd9l	A	G	6: 3,376,469 (GRCm39)	I264T	probably damaging	Het
Slc16a7	T	C	10: 125,066,805 (GRCm39)	D278G	probably benign	Het
Slc7a5	A	C	8: 122,634,006 (GRCm39)	S114A	probably damaging	Het
St6galnac3	A	G	3: 152,911,047 (GRCm39)	S305P	probably damaging	Het
Stat1	G	A	1: 52,183,368 (GRCm39)	R378Q	probably damaging	Het
Tnfrsf9	T	G	4: 151,014,395 (GRCm39)	C31W	probably damaging	Het
Tnk1	T	C	11: 69,747,571 (GRCm39)	E61G	possibly damaging	Het
Tnks1bp1	T	A	2: 84,889,585 (GRCm39)	D637E	probably benign	Het
Ttc17	C	T	2: 94,196,889 (GRCm39)	G486D	probably benign	Het
Vmn1r30	T	A	6: 58,412,284 (GRCm39)	R183*	probably null	Het
Vmn2r78	A	G	7: 86,604,149 (GRCm39)	T776A	probably damaging	Het
Wrap73	A	G	4: 154,241,079 (GRCm39)	E444G	probably benign	Het
Zc3h13	C	T	14: 75,567,955 (GRCm39)	R1083C	probably damaging	Het
Zfp189	A	G	4: 49,521,547 (GRCm39)		probably benign	Het

Other mutations in Slc35f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Slc35f2	APN	9	53,705,298 (GRCm39)	critical splice donor site	probably null
IGL01476:Slc35f2	APN	9	53,713,990 (GRCm39)	missense	possibly damaging	0.88
IGL01732:Slc35f2	APN	9	53,713,909 (GRCm39)	missense	probably damaging	1.00
IGL02719:Slc35f2	APN	9	53,717,026 (GRCm39)	splice site	probably benign
R0449:Slc35f2	UTSW	9	53,724,201 (GRCm39)	missense	probably damaging	1.00
R1268:Slc35f2	UTSW	9	53,705,197 (GRCm39)	nonsense	probably null
R1539:Slc35f2	UTSW	9	53,716,992 (GRCm39)	missense	possibly damaging	0.66
R3886:Slc35f2	UTSW	9	53,724,241 (GRCm39)	missense	probably benign	0.00
R4748:Slc35f2	UTSW	9	53,679,069 (GRCm39)	start codon destroyed	probably benign	0.23
R4779:Slc35f2	UTSW	9	53,717,013 (GRCm39)	missense	possibly damaging	0.80
R5438:Slc35f2	UTSW	9	53,708,302 (GRCm39)	missense	probably benign
R7308:Slc35f2	UTSW	9	53,705,294 (GRCm39)	missense	probably benign	0.00
R7520:Slc35f2	UTSW	9	53,708,385 (GRCm39)	missense	possibly damaging	0.57
R8293:Slc35f2	UTSW	9	53,724,224 (GRCm39)	missense	probably benign	0.27
R8483:Slc35f2	UTSW	9	53,716,985 (GRCm39)	nonsense	probably null
R9733:Slc35f2	UTSW	9	53,708,385 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AAACGGTGTCAGTGTTGTGCC -3'
(R):5'- GTAAGTCACTCCCCATCCCTGA -3'

Sequencing Primer
(F):5'- GCCTTTAGACTTACAGAAGCTAGG -3'
(R):5'- GATTGTCCTGCCCTCTGC -3'

Posted On

2019-11-12