Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01476:Slc35f2'

88473

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35f2

Ensembl Gene

ENSMUSG00000042195

Gene Name

solute carrier family 35, member F2

Synonyms

1500009K05Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01476

Quality Score

Status

Chromosome

Chromosomal Location

53678822-53725438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53713990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 168 (V168A)

Ref Sequence

ENSEMBL: ENSMUSP00000046528 (fasta)

Gene Model

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

AlphaFold

Q7TML3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048670
AA Change: V168A

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046528
Gene: ENSMUSG00000042195
AA Change: V168A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216515

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,353,834 (GRCm39)	T3719A	probably damaging	Het
Abcc10	A	G	17: 46,638,863 (GRCm39)		probably benign	Het
Atp13a2	G	A	4: 140,728,081 (GRCm39)	C558Y	probably damaging	Het
Btbd1	G	A	7: 81,450,797 (GRCm39)	R328*	probably null	Het
Cdk8	A	G	5: 146,231,973 (GRCm39)		probably null	Het
Chd8	A	T	14: 52,442,947 (GRCm39)	N534K	probably benign	Het
Cybc1	T	C	11: 121,116,671 (GRCm39)	Y86C	probably damaging	Het
Dlgap2	C	T	8: 14,828,301 (GRCm39)	R570*	probably null	Het
Eri2	A	C	7: 119,389,472 (GRCm39)	F149V	probably damaging	Het
Esyt1	A	G	10: 128,347,363 (GRCm39)	M1054T	probably damaging	Het
Gcm2	A	G	13: 41,259,217 (GRCm39)	V84A	probably damaging	Het
Got1	A	C	19: 43,512,848 (GRCm39)	V16G	probably damaging	Het
Itga9	C	T	9: 118,436,179 (GRCm39)	R62C	probably damaging	Het
Kif21a	T	C	15: 90,828,067 (GRCm39)	R1232G	possibly damaging	Het
Map1a	A	G	2: 121,135,688 (GRCm39)	Y1930C	probably damaging	Het
Or1e25	T	C	11: 73,494,056 (GRCm39)	S217P	probably damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or2ag2b	G	A	7: 106,417,827 (GRCm39)	C179Y	probably damaging	Het
Pclo	A	G	5: 14,571,122 (GRCm39)	K169R	probably damaging	Het
Rnf169	A	C	7: 99,604,691 (GRCm39)	Y174D	probably damaging	Het
Sarm1	T	C	11: 78,381,637 (GRCm39)	E282G	probably damaging	Het
Sec24a	A	G	11: 51,599,783 (GRCm39)	S840P	possibly damaging	Het
Skor2	A	T	18: 76,946,362 (GRCm39)	Q28L	unknown	Het
Slc6a7	A	T	18: 61,138,845 (GRCm39)	L221Q	probably damaging	Het
Spata31e5	A	T	1: 28,816,534 (GRCm39)	H499Q	probably benign	Het
Syt4	A	T	18: 31,574,696 (GRCm39)	V307E	probably damaging	Het
Tasp1	A	G	2: 139,850,693 (GRCm39)	L110S	probably benign	Het
Thnsl1	T	A	2: 21,216,970 (GRCm39)	D241E	probably benign	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tpbpb	A	T	13: 61,049,948 (GRCm39)	D60E	probably benign	Het
Trip11	T	C	12: 101,865,170 (GRCm39)	I168V	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Wscd2	A	G	5: 113,710,382 (GRCm39)	D302G	probably 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
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
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

Posted On

2013-11-18