Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Slc11a1'

181152

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: 0.102) question?

Stock #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

74375195-74386062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74377179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 55 (A55V)

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: A96V

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

SMART Domains

Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: A96V

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: A55V

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

SMART Domains

Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177
AA Change: A55V

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,044,801	L123Q	probably benign	Het
Abca2	C	T	2: 25,443,095	S1602F	probably benign	Het
Abcc9	C	A	6: 142,605,904	C1191F	probably damaging	Het
Adam3	G	T	8: 24,681,446		probably benign	Het
Aldh1l1	G	T	6: 90,562,695	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,485,937	N57D	possibly damaging	Het
Asic1	A	T	15: 99,699,101	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,403,898	I233T	probably benign	Het
Ccdc129	A	G	6: 55,968,045	R584G	probably benign	Het
Ccdc185	G	T	1: 182,748,204	Q307K	probably benign	Het
Cep120	T	C	18: 53,723,148	D399G	probably benign	Het
Cnn2	G	A	10: 79,992,554	V122M	probably benign	Het
Dgkd	T	C	1: 87,924,559	S472P	probably damaging	Het
Dock5	A	C	14: 67,812,232	I701S	probably damaging	Het
Efl1	A	G	7: 82,697,976	E570G	probably benign	Het
Eln	G	A	5: 134,718,170		probably benign	Het
Fat2	A	G	11: 55,312,005	V81A	probably benign	Het
Fbxw21	T	G	9: 109,148,156	I162L	probably benign	Het
Fhl2	G	A	1: 43,131,672	Q161*	probably null	Het
Gabrg2	A	G	11: 41,971,721	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm7714	A	G	5: 88,282,442	S66G	probably benign	Het
Grik5	A	T	7: 25,065,182	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,267,434	K156*	probably null	Het
Hecw1	T	C	13: 14,316,310	Y699C	probably benign	Het
Ipo9	A	C	1: 135,408,073	V202G	possibly damaging	Het
Jmjd6	A	T	11: 116,841,358		probably null	Het
Lama5	A	G	2: 180,192,392	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,952,261		probably benign	Het
Mavs	T	C	2: 131,246,605	V443A	probably damaging	Het
Mpdz	A	T	4: 81,286,387	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,638,584	S2059A	probably benign	Het
Olfr1251	A	T	2: 89,667,468	C139*	probably null	Het
Otud7b	G	T	3: 96,155,459	G672C	probably benign	Het
Palld	T	A	8: 61,535,700	T572S	probably benign	Het
Pde6b	T	A	5: 108,423,036	V379E	probably benign	Het
Peak1	A	G	9: 56,258,775	V623A	probably damaging	Het
Prr12	C	T	7: 45,048,659		probably benign	Het
Rxra	T	C	2: 27,754,241	I315T	probably damaging	Het
Slitrk3	T	C	3: 73,051,071	N123D	possibly damaging	Het
Spcs1	A	G	14: 31,000,872	M82T	probably damaging	Het
Sspo	A	G	6: 48,495,182	E113G	probably benign	Het
Syne2	A	G	12: 75,967,220	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,634,660	S310P	probably benign	Het
Ubp1	T	C	9: 113,956,758	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,293,699	C169*	probably null	Het
Vmn1r223	T	A	13: 23,250,237	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 108,995,954	I710N	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr26	A	G	1: 181,211,070		probably benign	Het
Wnt7a	A	G	6: 91,394,663	F106L	probably benign	Het
Zfp940	C	T	7: 29,846,870	V34M	probably damaging	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
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
IGL02961:Slc11a1	APN	1	74377173	missense	probably damaging	1.00
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

2014-05-07