Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03349:Slc35e1'

419636

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc35e1

Ensembl Gene

ENSMUSG00000019731

Gene Name

solute carrier family 35, member E1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL03349

Quality Score

Status

Chromosome

Chromosomal Location

73234485-73246458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73237696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 382 (Y382N)

Ref Sequence

ENSEMBL: ENSMUSP00000115754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000152080]

AlphaFold

Q8CD26

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141352

SMART Domains

Protein: ENSMUSP00000122215
Gene: ENSMUSG00000019731

Domain	Start	End	E-Value	Type
Pfam:EamA	5	58	1.5e-6	PFAM
Pfam:UAA	6	214	4e-8	PFAM
Pfam:TPT	67	211	1.7e-38	PFAM
Pfam:EamA	76	211	1.4e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000152080
AA Change: Y382N

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

SMART Domains

Protein: ENSMUSP00000115754
Gene: ENSMUSG00000019731
AA Change: Y382N

Domain	Start	End	E-Value	Type
Pfam:TPT	28	333	8.3e-95	PFAM
Pfam:EamA	188	334	7.1e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,629,455 (GRCm39)	Y3648H	probably benign	Het
Akr1c20	T	A	13: 4,558,249 (GRCm39)	R172*	probably null	Het
Apba1	A	T	19: 23,894,939 (GRCm39)	E458D	probably benign	Het
Atg2a	T	A	19: 6,308,054 (GRCm39)	V1590D	possibly damaging	Het
Atp13a4	A	G	16: 29,275,489 (GRCm39)	S332P	probably benign	Het
Atp8b2	A	T	3: 89,865,124 (GRCm39)	F163I	probably damaging	Het
Azin2	A	T	4: 128,839,907 (GRCm39)	Y228*	probably null	Het
Cd109	C	T	9: 78,543,767 (GRCm39)	H104Y	probably benign	Het
Ces2a	G	T	8: 105,460,712 (GRCm39)	L3F	probably damaging	Het
Crebbp	A	G	16: 3,935,222 (GRCm39)	V889A	possibly damaging	Het
Crim1	A	T	17: 78,662,579 (GRCm39)	K801*	probably null	Het
Cxcr1	T	C	1: 74,231,687 (GRCm39)	T112A	possibly damaging	Het
Cyp1a2	A	G	9: 57,587,158 (GRCm39)	S378P	possibly damaging	Het
Cyp2c67	T	C	19: 39,632,128 (GRCm39)	Y80C	probably damaging	Het
Dennd4a	T	C	9: 64,796,256 (GRCm39)	W761R	probably damaging	Het
Dgki	C	T	6: 37,074,562 (GRCm39)		probably null	Het
Dnase1l3	T	C	14: 7,984,146 (GRCm38)	T89A	probably benign	Het
Dock4	C	A	12: 40,783,309 (GRCm39)	Q748K	probably benign	Het
Elmo3	A	G	8: 106,033,020 (GRCm39)	E68G	possibly damaging	Het
Fer1l4	C	A	2: 155,886,654 (GRCm39)	E692*	probably null	Het
Fkbp9	T	A	6: 56,826,703 (GRCm39)	M101K	probably damaging	Het
Grin1	C	A	2: 25,200,448 (GRCm39)	V225L	probably benign	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Heatr5b	C	A	17: 79,062,749 (GRCm39)	K1933N	probably benign	Het
Hsdl1	A	T	8: 120,292,436 (GRCm39)	S260T	probably benign	Het
Hspg2	T	C	4: 137,287,833 (GRCm39)		probably benign	Het
Ift172	A	T	5: 31,441,474 (GRCm39)	V220E	probably benign	Het
Igkv12-47	C	T	6: 69,727,850 (GRCm39)		noncoding transcript	Het
Ism1	C	T	2: 139,573,895 (GRCm39)	R82*	probably null	Het
Lrch3	A	G	16: 32,775,694 (GRCm39)	T187A	probably damaging	Het
Ltbr	T	A	6: 125,289,329 (GRCm39)	D160V	probably damaging	Het
Lypd11	T	A	7: 24,422,261 (GRCm39)	S163C	probably damaging	Het
Mark3	A	T	12: 111,594,684 (GRCm39)	K353I	probably benign	Het
Mrm3	A	T	11: 76,140,772 (GRCm39)	H260L	probably damaging	Het
Nckap1	T	C	2: 80,355,904 (GRCm39)	Q627R	probably benign	Het
Neb	T	A	2: 52,168,964 (GRCm39)	Y1857F	possibly damaging	Het
Ntsr1	A	G	2: 180,142,295 (GRCm39)	T29A	probably benign	Het
Ofcc1	C	T	13: 40,226,228 (GRCm39)	G768D	probably benign	Het
Or5k17	T	C	16: 58,746,323 (GRCm39)	M204V	probably benign	Het
Pde8b	T	C	13: 95,179,551 (GRCm39)		probably benign	Het
Pld4	A	T	12: 112,734,313 (GRCm39)	Q393L	probably benign	Het
Prss23	T	C	7: 89,159,065 (GRCm39)	I335V	probably benign	Het
Prune2	A	G	19: 17,100,710 (GRCm39)	I2071M	probably damaging	Het
Ptprz1	T	A	6: 23,000,331 (GRCm39)	V807E	probably damaging	Het
Rnf20	G	A	4: 49,655,936 (GRCm39)	A961T	probably damaging	Het
Slc25a24	A	G	3: 109,056,865 (GRCm39)	Q126R	possibly damaging	Het
Snrpn	C	T	7: 59,635,613 (GRCm39)	G129D	probably damaging	Het
Spag9	A	T	11: 93,984,335 (GRCm39)	N386I	possibly damaging	Het
Ssna1	T	C	2: 25,161,542 (GRCm39)	N102D	possibly damaging	Het
Tex21	A	T	12: 76,268,365 (GRCm39)	I139N	probably benign	Het
Trgc2	T	A	13: 19,489,346 (GRCm39)	T129S	probably benign	Het
Trim21	T	C	7: 102,212,484 (GRCm39)	T161A	probably benign	Het
Vmn2r82	T	A	10: 79,213,703 (GRCm39)	H96Q	probably benign	Het

Other mutations in Slc35e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Slc35e1	APN	8	73,237,602 (GRCm39)	utr 3 prime	probably benign
IGL01399:Slc35e1	APN	8	73,238,534 (GRCm39)	missense	probably damaging	1.00
IGL02663:Slc35e1	APN	8	73,242,053 (GRCm39)	missense	probably damaging	1.00
flattened	UTSW	8	73,241,973 (GRCm39)	missense	probably damaging	1.00
wizened	UTSW	8	73,246,030 (GRCm39)	missense
R0009:Slc35e1	UTSW	8	73,238,553 (GRCm39)	missense	probably damaging	1.00
R0009:Slc35e1	UTSW	8	73,238,553 (GRCm39)	missense	probably damaging	1.00
R0054:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R0105:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R0401:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R0510:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R0511:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R0529:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R0566:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R0968:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R0969:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1029:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1051:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1123:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1245:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1247:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1314:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1343:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1357:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1401:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1430:Slc35e1	UTSW	8	73,246,415 (GRCm39)	unclassified	probably benign
R1715:Slc35e1	UTSW	8	73,237,821 (GRCm39)	missense	probably benign	0.05
R3031:Slc35e1	UTSW	8	73,238,735 (GRCm39)	missense	probably benign	0.03
R3769:Slc35e1	UTSW	8	73,245,714 (GRCm39)	missense	possibly damaging	0.89
R4745:Slc35e1	UTSW	8	73,246,166 (GRCm39)	missense	possibly damaging	0.81
R6884:Slc35e1	UTSW	8	73,238,726 (GRCm39)	missense	possibly damaging	0.77
R7309:Slc35e1	UTSW	8	73,246,358 (GRCm39)	missense	unknown
R7848:Slc35e1	UTSW	8	73,246,280 (GRCm39)	missense	probably benign	0.08
R7913:Slc35e1	UTSW	8	73,238,506 (GRCm39)	missense	probably damaging	1.00
R8080:Slc35e1	UTSW	8	73,246,030 (GRCm39)	missense
R8806:Slc35e1	UTSW	8	73,241,973 (GRCm39)	missense	probably damaging	1.00
R8921:Slc35e1	UTSW	8	73,241,988 (GRCm39)	missense	probably benign
R8948:Slc35e1	UTSW	8	73,246,042 (GRCm39)	missense	probably damaging	1.00
R9108:Slc35e1	UTSW	8	73,246,030 (GRCm39)	missense
R9111:Slc35e1	UTSW	8	73,246,030 (GRCm39)	missense

Posted On

2016-08-02