Mutagenetix > Incidental Mutation

Incidental Mutation 'R5438:Slc35f2'

428479

Institutional Source

Beutler Lab

Gene Symbol

Slc35f2

Ensembl Gene

ENSMUSG00000042195

Gene Name

solute carrier family 35, member F2

Synonyms

1500009K05Rik

MMRRC Submission

043003-MU

Accession Numbers

Essential gene?

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

Stock #

R5438 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53678822-53725438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53708302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 98 (D98E)

Ref Sequence

ENSEMBL: ENSMUSP00000046528 (fasta)

Gene Model

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

AlphaFold

Q7TML3

Predicted Effect

probably benign
Transcript: ENSMUST00000048670
AA Change: D98E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046528
Gene: ENSMUSG00000042195
AA Change: D98E

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,538,165 (GRCm39)	Q244K	probably benign	Het
Arpc2	T	A	1: 74,275,995 (GRCm39)	L4Q	probably null	Het
Atp7b	C	T	8: 22,504,570 (GRCm39)	V581I	probably benign	Het
Bpifb9b	T	A	2: 154,151,288 (GRCm39)	V3D	possibly damaging	Het
Capn13	A	G	17: 73,633,479 (GRCm39)	F525L	probably benign	Het
Cimip4	T	C	15: 78,263,040 (GRCm39)	T180A	possibly damaging	Het
Cmya5	G	T	13: 93,231,707 (GRCm39)	T1127K	possibly damaging	Het
Col6a4	A	T	9: 105,890,895 (GRCm39)	L1800I	possibly damaging	Het
Cpd	T	A	11: 76,682,792 (GRCm39)	I1076F	possibly damaging	Het
Elp4	A	G	2: 105,734,748 (GRCm39)	F29S	probably damaging	Het
Exosc10	T	A	4: 148,650,799 (GRCm39)	Y448*	probably null	Het
Fam219a	A	G	4: 41,520,302 (GRCm39)	S149P	probably damaging	Het
Gdap2	A	T	3: 100,085,629 (GRCm39)	I184F	probably damaging	Het
Golgb1	A	G	16: 36,720,870 (GRCm39)	N409D	probably benign	Het
Grin2b	C	T	6: 135,713,304 (GRCm39)	G859D	probably damaging	Het
Hvcn1	A	G	5: 122,376,527 (GRCm39)	K153R	probably damaging	Het
Ighv3-1	T	A	12: 113,928,089 (GRCm39)	H90L	probably benign	Het
Kcnn3	T	A	3: 89,428,605 (GRCm39)	L277Q	probably damaging	Het
Lama1	T	A	17: 68,107,769 (GRCm39)	S2128T	possibly damaging	Het
Ltbp1	T	A	17: 75,598,321 (GRCm39)	S919T	probably damaging	Het
Mgam	A	G	6: 40,661,455 (GRCm39)	N1163S	probably damaging	Het
Mypn	G	T	10: 62,971,618 (GRCm39)	C807*	probably null	Het
Or52n5	G	A	7: 104,588,344 (GRCm39)	V204I	probably benign	Het
Or5m8	T	C	2: 85,822,925 (GRCm39)	F255L	probably damaging	Het
Otud7a	A	G	7: 63,407,207 (GRCm39)	N62S	unknown	Het
Pcdh18	A	T	3: 49,710,465 (GRCm39)	Y283*	probably null	Het
Ptger2	A	T	14: 45,227,101 (GRCm39)	H227L	possibly damaging	Het
Slc24a5	A	G	2: 124,910,785 (GRCm39)	Y72C	probably damaging	Het
Smad1	A	T	8: 80,082,949 (GRCm39)	F184I	probably benign	Het
Sncg	C	T	14: 34,095,637 (GRCm39)	V52I	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Zc3h11a	C	T	1: 133,568,385 (GRCm39)	R88H	probably damaging	Het
Zfp141	A	G	7: 42,138,894 (GRCm39)	V46A	probably damaging	Het
Zfp472	T	A	17: 33,197,193 (GRCm39)	C423S	probably damaging	Het
Zfp729a	A	T	13: 67,767,705 (GRCm39)	H841Q	possibly damaging	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
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
R7680:Slc35f2	UTSW	9	53,715,396 (GRCm39)	missense	probably damaging	1.00
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'- CAAACCTTGTGCTGATGGC -3'
(R):5'- CAGGGCTTCTTCGAATGCAC -3'

Sequencing Primer
(F):5'- CACGGATGCCTGGCCTC -3'
(R):5'- TCGAATGCACAGCTTCCTG -3'

Posted On

2016-09-01