Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02961:Slc11a1'

365337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc11a1

Ensembl Gene

ENSMUSG00000026177

Gene Name

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1

Synonyms

host resistance locus Bcg/Ity/Lsh, Nramp, ity, Lsh, Ity, Bcg, Nramp1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02961

Quality Score

Status

Chromosome

Chromosomal Location

74375195-74386062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74377173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 53 (L53P)

Ref Sequence

ENSEMBL: ENSMUSP00000139455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027368] [ENSMUST00000187516]

AlphaFold

P41251

Predicted Effect

probably damaging
Transcript: ENSMUST00000027368
AA Change: L94P

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

SMART Domains

Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: L94P

Domain	Start	End	E-Value	Type
Pfam:Nramp	75	460	1.5e-119	PFAM
transmembrane domain	464	486	N/A	INTRINSIC
transmembrane domain	491	513	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155865

Predicted Effect

probably damaging
Transcript: ENSMUST00000187516
AA Change: L53P

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

SMART Domains

Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177
AA Change: L53P

Domain	Start	End	E-Value	Type
Pfam:Nramp	46	419	1.4e-109	PFAM
transmembrane domain	423	445	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene are associated with susceptibility to infection with pathogens, including Myobacterium, Salmonella and Leishmania. Depending on the mutation, mutants may exhibit either increased or decreased susceptibility to infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,523,612	V2288A	probably damaging	Het
Agbl4	T	A	4: 110,580,121	N76K	probably damaging	Het
AI182371	A	T	2: 35,086,112	V258E	possibly damaging	Het
Alg1	T	A	16: 5,234,997	N80K	probably benign	Het
Ambra1	A	G	2: 91,911,448	M963V	possibly damaging	Het
Avil	C	A	10: 127,008,306	Q245K	probably benign	Het
Caml	A	G	13: 55,631,882	N256S	probably benign	Het
Ccdc102a	A	C	8: 94,903,350	I521S	possibly damaging	Het
Ccm2l	A	G	2: 153,078,601	T393A	probably benign	Het
Cdh16	A	G	8: 104,615,205	V91A	probably damaging	Het
Chd7	A	G	4: 8,751,542	D13G	probably damaging	Het
Chsy1	T	A	7: 66,171,782	D588E	probably benign	Het
Cilp	T	A	9: 65,278,609	V662E	possibly damaging	Het
Cog8	A	G	8: 107,056,253		probably benign	Het
Cpb2	T	C	14: 75,265,383	V134A	probably benign	Het
Ctcfl	T	A	2: 173,101,919	H546L	possibly damaging	Het
Dclre1c	A	G	2: 3,437,033	D136G	probably damaging	Het
Dnah2	T	A	11: 69,518,414	E379D	probably damaging	Het
Extl3	A	G	14: 65,056,959	Y808H	possibly damaging	Het
Gm7247	T	A	14: 51,365,355	N49K	probably damaging	Het
Gm8882	A	T	6: 132,361,408	F282L	unknown	Het
Insr	T	C	8: 3,258,785	I84V	probably benign	Het
Ipo7	C	T	7: 110,047,016	P541S	probably benign	Het
Kcnc3	T	C	7: 44,591,492	S203P	probably damaging	Het
Myo5a	A	G	9: 75,215,120	D1732G	probably benign	Het
Olfr1419	T	A	19: 11,870,331	N295I	probably damaging	Het
Olfr153	A	G	2: 87,532,684	Y217C	probably damaging	Het
Olfr493	T	C	7: 108,346,127	I285V	probably benign	Het
Olfr646	C	A	7: 104,107,150	Y290*	probably null	Het
Olfr986	T	C	9: 40,187,601	V162A	probably benign	Het
Pde3a	T	A	6: 141,459,700	L426*	probably null	Het
Pkd1	T	A	17: 24,578,115	D8E	possibly damaging	Het
Polr3a	A	T	14: 24,467,040	Y714*	probably null	Het
Pramef25	T	C	4: 143,949,147	T370A	probably damaging	Het
Rasgrf1	T	C	9: 89,981,649	V556A	possibly damaging	Het
Rev3l	T	C	10: 39,827,945	Y1996H	possibly damaging	Het
Rttn	T	C	18: 89,053,573	L1248P	probably damaging	Het
Slc22a27	T	C	19: 7,926,521	R84G	probably damaging	Het
Sptbn4	A	G	7: 27,397,967	L1302P	probably damaging	Het
Srm	T	C	4: 148,594,129	V271A	possibly damaging	Het
Sycp2	A	G	2: 178,380,862	I492T	probably benign	Het
Tmprss13	A	G	9: 45,345,003	T472A	probably damaging	Het
Togaram1	A	G	12: 64,966,710	D245G	probably damaging	Het
Vmn1r184	A	T	7: 26,267,650	I274L	probably benign	Het
Vmn1r21	T	C	6: 57,843,989	M157V	probably benign	Het
Wdr90	C	A	17: 25,848,675	E1420*	probably null	Het
Zfp518a	A	T	19: 40,915,018	R1130S	probably benign	Het

Other mutations in Slc11a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Slc11a1	APN	1	74381898	splice site	probably null
IGL00813:Slc11a1	APN	1	74383480	missense	probably benign	0.03
IGL00970:Slc11a1	APN	1	74380662	missense	probably damaging	1.00
IGL01017:Slc11a1	APN	1	74379796	missense	probably damaging	1.00
IGL01646:Slc11a1	APN	1	74384740	missense	probably damaging	0.99
IGL01941:Slc11a1	APN	1	74377179	missense	probably damaging	1.00
IGL01996:Slc11a1	APN	1	74376806	missense	possibly damaging	0.93
IGL02580:Slc11a1	APN	1	74380259	missense	probably damaging	0.99
IGL02586:Slc11a1	APN	1	74385132	splice site	probably benign
R1813:Slc11a1	UTSW	1	74375772	missense	probably benign
R1896:Slc11a1	UTSW	1	74375772	missense	probably benign
R2219:Slc11a1	UTSW	1	74380665	missense	probably damaging	0.98
R2220:Slc11a1	UTSW	1	74380665	missense	probably damaging	0.98
R2416:Slc11a1	UTSW	1	74383644	missense	probably damaging	0.96
R2432:Slc11a1	UTSW	1	74383751	splice site	probably benign
R3893:Slc11a1	UTSW	1	74384706	missense	probably damaging	1.00
R4450:Slc11a1	UTSW	1	74385535	utr 3 prime	probably benign
R4638:Slc11a1	UTSW	1	74375278	start gained	probably benign
R4782:Slc11a1	UTSW	1	74384088	missense	probably damaging	0.98
R5068:Slc11a1	UTSW	1	74385184	missense	probably damaging	1.00
R5069:Slc11a1	UTSW	1	74385184	missense	probably damaging	1.00
R5070:Slc11a1	UTSW	1	74385184	missense	probably damaging	1.00
R5215:Slc11a1	UTSW	1	74383777	intron	probably benign
R5333:Slc11a1	UTSW	1	74384145	missense	probably damaging	1.00
R5613:Slc11a1	UTSW	1	74380906	missense	probably damaging	1.00
R5621:Slc11a1	UTSW	1	74380906	missense	probably damaging	1.00
R5622:Slc11a1	UTSW	1	74380906	missense	probably damaging	1.00
R5950:Slc11a1	UTSW	1	74377176	missense	probably benign	0.40
R6239:Slc11a1	UTSW	1	74384115	missense	possibly damaging	0.82
R6776:Slc11a1	UTSW	1	74384085	missense	probably damaging	1.00
R7199:Slc11a1	UTSW	1	74383671	missense	possibly damaging	0.83
R7356:Slc11a1	UTSW	1	74385489	missense	probably benign
R8142:Slc11a1	UTSW	1	74385259	missense	probably benign
R8877:Slc11a1	UTSW	1	74380265	missense	probably damaging	1.00
R9026:Slc11a1	UTSW	1	74377166	missense	probably damaging	1.00
R9600:Slc11a1	UTSW	1	74383529	critical splice donor site	probably null
R9617:Slc11a1	UTSW	1	74379882	missense	probably benign	0.06

Posted On

2015-12-18