Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03181:Slc35f5'

412240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35f5

Ensembl Gene

ENSMUSG00000026342

Gene Name

solute carrier family 35, member F5

Synonyms

1300003P13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL03181

Quality Score

Status

Chromosome

Chromosomal Location

125488332-125523557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125512922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 52 (I52N)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027580]

AlphaFold

Q8R314

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027580
AA Change: I402N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027580
Gene: ENSMUSG00000026342
AA Change: I402N

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
transmembrane domain	69	86	N/A	INTRINSIC
transmembrane domain	101	120	N/A	INTRINSIC
Pfam:EamA	226	317	2.1e-8	PFAM
transmembrane domain	329	348	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	397	419	N/A	INTRINSIC
transmembrane domain	421	443	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189443
AA Change: I52N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,240,147 (GRCm39)	V1319A	possibly damaging	Het
Abcb11	T	A	2: 69,158,352 (GRCm39)		probably benign	Het
Acss3	G	T	10: 106,889,249 (GRCm39)	H190Q	probably damaging	Het
Adra2b	C	T	2: 127,205,903 (GRCm39)	T140I	probably benign	Het
Arl1	T	A	10: 88,578,921 (GRCm39)		probably benign	Het
Atp4a	T	G	7: 30,424,129 (GRCm39)	C968G	probably benign	Het
Clec4n	T	C	6: 123,207,474 (GRCm39)	C13R	possibly damaging	Het
Cnot3	T	C	7: 3,656,247 (GRCm39)	Y178H	probably damaging	Het
Col18a1	G	A	10: 76,891,532 (GRCm39)	R1560C	probably damaging	Het
Cyp2c66	T	C	19: 39,130,483 (GRCm39)	F106S	probably benign	Het
Dcn	A	C	10: 97,319,314 (GRCm39)	E30D	probably damaging	Het
Dennd5a	A	T	7: 109,532,865 (GRCm39)	F302I	probably damaging	Het
Dip2b	T	C	15: 100,113,088 (GRCm39)	V1501A	probably damaging	Het
Dnah10	C	T	5: 124,825,521 (GRCm39)	P687S	probably damaging	Het
Drc7	A	G	8: 95,794,755 (GRCm39)	T387A	probably benign	Het
Dusp7	T	A	9: 106,251,009 (GRCm39)	M378K	probably damaging	Het
Ftmt	T	C	18: 52,464,953 (GRCm39)	Y90H	probably damaging	Het
Glb1l3	T	C	9: 26,739,659 (GRCm39)		probably null	Het
Gpatch3	T	C	4: 133,305,433 (GRCm39)	F223L	probably damaging	Het
Gpr158	T	A	2: 21,787,972 (GRCm39)	F538I	probably benign	Het
Gucy2e	A	G	11: 69,121,008 (GRCm39)		probably benign	Het
Hadha	A	G	5: 30,326,524 (GRCm39)	V566A	probably benign	Het
Hectd4	A	T	5: 121,492,021 (GRCm39)	S3787C	possibly damaging	Het
Hnrnpk	A	T	13: 58,542,130 (GRCm39)	D265E	possibly damaging	Het
Hspbp1	G	A	7: 4,687,363 (GRCm39)	R83W	probably damaging	Het
Hspg2	T	A	4: 137,243,248 (GRCm39)	L758Q	probably damaging	Het
Ippk	A	G	13: 49,595,463 (GRCm39)	Y180C	probably damaging	Het
Itpr3	T	A	17: 27,330,242 (GRCm39)	M1620K	probably benign	Het
Klf7	T	C	1: 64,074,885 (GRCm39)	K298R	possibly damaging	Het
Ktn1	A	T	14: 47,970,741 (GRCm39)	T1229S	probably benign	Het
Lefty2	A	G	1: 180,725,115 (GRCm39)	N282D	probably damaging	Het
Lrrc37	A	T	11: 103,507,242 (GRCm39)		probably benign	Het
Nsd1	G	A	13: 55,394,858 (GRCm39)	E820K	probably damaging	Het
Obsl1	C	A	1: 75,469,228 (GRCm39)	A1238S	probably benign	Het
Odr4	G	T	1: 150,239,290 (GRCm39)	P378T	probably benign	Het
Pias2	T	C	18: 77,220,938 (GRCm39)	I391T	possibly damaging	Het
Ppp1r10	G	T	17: 36,241,516 (GRCm39)	G764*	probably null	Het
Ptpra	T	C	2: 130,359,707 (GRCm39)	F158L	probably damaging	Het
Recql	T	C	6: 142,323,918 (GRCm39)	S59G	probably benign	Het
Rrp1b	A	T	17: 32,276,150 (GRCm39)	I566F	probably benign	Het
Sh3yl1	G	A	12: 30,991,979 (GRCm39)	D145N	possibly damaging	Het
Slc51b	A	G	9: 65,322,447 (GRCm39)		probably null	Het
Smpd4	C	T	16: 17,443,671 (GRCm39)	Q72*	probably null	Het
Spata6	A	G	4: 111,679,963 (GRCm39)	D391G	probably benign	Het
Tnc	T	A	4: 63,885,543 (GRCm39)	D1853V	possibly damaging	Het
Tnks1bp1	C	T	2: 84,893,058 (GRCm39)	T333I	probably benign	Het
Vmn2r100	T	A	17: 19,752,207 (GRCm39)	I813N	probably damaging	Het
Vwa8	T	A	14: 79,246,690 (GRCm39)	H677Q	probably benign	Het
Washc4	T	C	10: 83,426,883 (GRCm39)	Y1064H	probably damaging	Het
Wdr82	T	A	9: 106,063,614 (GRCm39)	I272K	probably benign	Het
Zc3h12a	T	C	4: 125,013,097 (GRCm39)	Y589C	probably damaging	Het

Other mutations in Slc35f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Slc35f5	APN	1	125,515,161 (GRCm39)	missense	probably damaging	1.00
IGL01844:Slc35f5	APN	1	125,517,612 (GRCm39)	missense	probably damaging	0.96
IGL02218:Slc35f5	APN	1	125,512,292 (GRCm39)	missense	probably damaging	1.00
IGL02586:Slc35f5	APN	1	125,512,273 (GRCm39)	missense	probably damaging	1.00
IGL03000:Slc35f5	APN	1	125,502,479 (GRCm39)	missense	probably damaging	1.00
IGL03160:Slc35f5	APN	1	125,502,472 (GRCm39)	missense	probably damaging	1.00
IGL02984:Slc35f5	UTSW	1	125,490,250 (GRCm39)	missense	probably benign	0.28
R0127:Slc35f5	UTSW	1	125,503,942 (GRCm39)	missense	probably damaging	1.00
R0390:Slc35f5	UTSW	1	125,512,832 (GRCm39)	missense	probably damaging	1.00
R0513:Slc35f5	UTSW	1	125,503,906 (GRCm39)	splice site	probably benign
R1701:Slc35f5	UTSW	1	125,498,330 (GRCm39)	missense	possibly damaging	0.77
R1716:Slc35f5	UTSW	1	125,512,269 (GRCm39)	missense	possibly damaging	0.65
R2211:Slc35f5	UTSW	1	125,507,001 (GRCm39)	missense	possibly damaging	0.74
R3024:Slc35f5	UTSW	1	125,496,335 (GRCm39)	missense	probably benign	0.00
R3870:Slc35f5	UTSW	1	125,490,098 (GRCm39)	missense	probably benign	0.00
R4239:Slc35f5	UTSW	1	125,500,211 (GRCm39)	missense	possibly damaging	0.94
R4547:Slc35f5	UTSW	1	125,500,119 (GRCm39)	missense	probably benign	0.00
R5622:Slc35f5	UTSW	1	125,517,693 (GRCm39)	missense	probably damaging	1.00
R5688:Slc35f5	UTSW	1	125,518,775 (GRCm39)	missense	probably benign	0.23
R5876:Slc35f5	UTSW	1	125,515,100 (GRCm39)	critical splice acceptor site	probably null
R6701:Slc35f5	UTSW	1	125,490,347 (GRCm39)	missense	probably damaging	1.00
R7292:Slc35f5	UTSW	1	125,500,222 (GRCm39)	missense	probably damaging	0.99
R7368:Slc35f5	UTSW	1	125,512,256 (GRCm39)	missense	probably damaging	1.00
R7530:Slc35f5	UTSW	1	125,512,275 (GRCm39)	missense	probably damaging	1.00
R7807:Slc35f5	UTSW	1	125,512,278 (GRCm39)	missense	probably damaging	1.00
R8004:Slc35f5	UTSW	1	125,517,624 (GRCm39)	missense	probably damaging	0.98
R8289:Slc35f5	UTSW	1	125,490,252 (GRCm39)	nonsense	probably null
R8435:Slc35f5	UTSW	1	125,488,994 (GRCm39)	nonsense	probably null
R9011:Slc35f5	UTSW	1	125,490,050 (GRCm39)	missense	probably benign	0.03
R9339:Slc35f5	UTSW	1	125,517,628 (GRCm39)	missense	probably benign	0.34
R9365:Slc35f5	UTSW	1	125,496,333 (GRCm39)	missense	probably benign	0.08
Z1177:Slc35f5	UTSW	1	125,512,971 (GRCm39)	critical splice donor site	probably null
Z1177:Slc35f5	UTSW	1	125,488,442 (GRCm39)	start gained	probably benign

Posted On

2016-08-02