Mutagenetix > Incidental Mutation

Incidental Mutation 'R5068:Slc11a1'

388402

Institutional Source

Beutler Lab

Gene Symbol

Slc11a1

Ensembl Gene

ENSMUSG00000026177

Gene Name

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

Synonyms

Nramp1, host resistance locus Bcg/Ity/Lsh, Bcg, Ity1, Nramp, Lsh, Ity, ity

MMRRC Submission

042658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74414354-74425221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74424343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 434 (A434T)

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: A475T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: A475T

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: ENSMUST00000127487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147233

Predicted Effect

probably damaging
Transcript: ENSMUST00000187516
AA Change: A434T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177
AA Change: A434T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149166

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
6030468B19Rik	A	G	11: 117,693,701 (GRCm39)	Y56C	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Add2	T	A	6: 86,084,440 (GRCm39)	L496Q	probably damaging	Het
Akt1s1	T	C	7: 44,499,432 (GRCm39)		probably null	Het
Als2	G	T	1: 59,250,433 (GRCm39)	P437Q	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,402,667 (GRCm39)	R1464G	probably damaging	Het
Ankrd24	T	C	10: 81,475,699 (GRCm39)	S121P	possibly damaging	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Bnip3l	T	C	14: 67,237,081 (GRCm39)	E57G	possibly damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cc2d1b	T	C	4: 108,480,661 (GRCm39)	V27A	possibly damaging	Het
Cdc37	T	C	9: 21,061,099 (GRCm39)	T19A	probably damaging	Het
Cep152	T	C	2: 125,413,736 (GRCm39)	I1199V	probably benign	Het
Chd6	G	T	2: 160,808,289 (GRCm39)	L1642I	possibly damaging	Het
Chst13	T	C	6: 90,286,551 (GRCm39)	E137G	possibly damaging	Het
Cnrip1	A	G	11: 17,004,687 (GRCm39)	D79G	probably damaging	Het
Dars2	A	T	1: 160,869,483 (GRCm39)	C589S	probably benign	Het
Dhx15	T	G	5: 52,327,409 (GRCm39)	I102L	possibly damaging	Het
Dip2a	A	G	10: 76,153,877 (GRCm39)	L151P	possibly damaging	Het
Dlc1	T	C	8: 37,405,184 (GRCm39)	T202A	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,549,031 (GRCm39)	F464L	probably benign	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Dthd1	C	A	5: 62,976,059 (GRCm39)	D244E	probably benign	Het
Dtl	A	T	1: 191,300,485 (GRCm39)	D126E	probably damaging	Het
Ell2	A	G	13: 75,911,737 (GRCm39)	N341S	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Erbb4	A	T	1: 68,083,061 (GRCm39)		probably null	Het
Erc2	A	T	14: 28,024,900 (GRCm39)	H593L	possibly damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fyn	A	G	10: 39,402,839 (GRCm39)	K204E	probably damaging	Het
Gm4847	A	T	1: 166,465,953 (GRCm39)	F212Y	possibly damaging	Het
Gpc5	T	C	14: 115,654,676 (GRCm39)	*499R	probably null	Het
Hcn4	T	C	9: 58,767,304 (GRCm39)	L955P	unknown	Het
Hook2	C	A	8: 85,720,028 (GRCm39)	L111I	possibly damaging	Het
Hook3	C	T	8: 26,585,785 (GRCm39)		probably null	Het
Hvcn1	T	C	5: 122,371,544 (GRCm39)	F28S	probably damaging	Het
Igkv6-32	A	G	6: 70,051,267 (GRCm39)	F30L	possibly damaging	Het
Inpp5b	G	A	4: 124,636,442 (GRCm39)		probably null	Het
Itgb2	G	A	10: 77,384,595 (GRCm39)	A239T	probably damaging	Het
Kcnrg	T	C	14: 61,845,266 (GRCm39)	L102P	probably damaging	Het
Kif16b	A	T	2: 142,553,627 (GRCm39)	M1068K	probably benign	Het
Kifc3	T	C	8: 95,836,844 (GRCm39)	R109G	possibly damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Kptn	T	C	7: 15,857,027 (GRCm39)	Y172H	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Mrc1	T	A	2: 14,311,327 (GRCm39)	M868K	probably benign	Het
Mterf1a	T	C	5: 3,941,854 (GRCm39)	N5D	probably benign	Het
Muc5b	T	C	7: 141,412,345 (GRCm39)	S1764P	unknown	Het
Myo9b	T	C	8: 71,801,699 (GRCm39)	Y1275H	probably damaging	Het
Nek1	T	C	8: 61,469,330 (GRCm39)	I129T	probably damaging	Het
Net1	G	A	13: 3,936,740 (GRCm39)	A221V	probably benign	Het
Nuak2	A	T	1: 132,259,509 (GRCm39)	D429V	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or52h1	T	A	7: 103,829,448 (GRCm39)	S56C	probably damaging	Het
Or8b42	T	C	9: 38,341,760 (GRCm39)	Y61H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh7	T	C	5: 57,879,508 (GRCm39)	V1021A	probably damaging	Het
Pclo	G	C	5: 14,729,087 (GRCm39)		probably benign	Het
Pds5a	A	C	5: 65,772,615 (GRCm39)	D1329E	probably damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pias3	A	G	3: 96,611,171 (GRCm39)	K431E	probably damaging	Het
Piwil1	T	C	5: 128,818,678 (GRCm39)	S158P	probably damaging	Het
Plxnc1	A	T	10: 94,635,239 (GRCm39)	I1329N	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pnpla1	T	A	17: 29,098,397 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,270,343 (GRCm39)	Y827H	probably damaging	Het
Prss3b	A	C	6: 41,009,370 (GRCm39)	Y155D	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rpp40	T	C	13: 36,082,681 (GRCm39)	N254D	probably benign	Het
Scin	T	A	12: 40,174,699 (GRCm39)	H128L	probably damaging	Het
Sh3bp2	A	T	5: 34,714,311 (GRCm39)	M225L	probably benign	Het
Shisa9	C	A	16: 12,085,412 (GRCm39)	H324Q	possibly damaging	Het
Sipa1l1	A	G	12: 82,484,601 (GRCm39)	D1585G	probably damaging	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slc6a13	T	C	6: 121,310,301 (GRCm39)	L320P	probably damaging	Het
Spats2l	A	G	1: 57,982,380 (GRCm39)	T421A	probably benign	Het
Spryd3	A	T	15: 102,037,046 (GRCm39)	D207E	probably benign	Het
Srrt	T	C	5: 137,294,803 (GRCm39)	N392S	possibly damaging	Het
Stk36	G	T	1: 74,661,504 (GRCm39)	R510S	probably benign	Het
Sucnr1	A	G	3: 59,994,288 (GRCm39)	Y272C	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uap1	G	T	1: 169,989,032 (GRCm39)	P130Q	probably damaging	Het
Ube3c	T	C	5: 29,806,352 (GRCm39)		probably null	Het
Umad1	A	T	6: 8,401,157 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,410,665 (GRCm39)	V2705A	possibly damaging	Het
Vps13a	T	C	19: 16,723,422 (GRCm39)	S259G	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdfy3	T	C	5: 102,042,803 (GRCm39)	T1983A	probably benign	Het
Wdr24	T	G	17: 26,044,753 (GRCm39)	F203V	possibly damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp282	A	C	6: 47,854,637 (GRCm39)	Q11P	probably benign	Het
Zfp750	T	A	11: 121,403,021 (GRCm39)	T576S	probably benign	Het

Other mutations in Slc11a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Slc11a1	APN	1	74,421,057 (GRCm39)	splice site	probably null
IGL00813:Slc11a1	APN	1	74,422,639 (GRCm39)	missense	probably benign	0.03
IGL00970:Slc11a1	APN	1	74,419,821 (GRCm39)	missense	probably damaging	1.00
IGL01017:Slc11a1	APN	1	74,418,955 (GRCm39)	missense	probably damaging	1.00
IGL01646:Slc11a1	APN	1	74,423,899 (GRCm39)	missense	probably damaging	0.99
IGL01941:Slc11a1	APN	1	74,416,338 (GRCm39)	missense	probably damaging	1.00
IGL01996:Slc11a1	APN	1	74,415,965 (GRCm39)	missense	possibly damaging	0.93
IGL02580:Slc11a1	APN	1	74,419,418 (GRCm39)	missense	probably damaging	0.99
IGL02586:Slc11a1	APN	1	74,424,291 (GRCm39)	splice site	probably benign
IGL02961:Slc11a1	APN	1	74,416,332 (GRCm39)	missense	probably damaging	1.00
R1813:Slc11a1	UTSW	1	74,414,931 (GRCm39)	missense	probably benign
R1896:Slc11a1	UTSW	1	74,414,931 (GRCm39)	missense	probably benign
R2219:Slc11a1	UTSW	1	74,419,824 (GRCm39)	missense	probably damaging	0.98
R2220:Slc11a1	UTSW	1	74,419,824 (GRCm39)	missense	probably damaging	0.98
R2416:Slc11a1	UTSW	1	74,422,803 (GRCm39)	missense	probably damaging	0.96
R2432:Slc11a1	UTSW	1	74,422,910 (GRCm39)	splice site	probably benign
R3893:Slc11a1	UTSW	1	74,423,865 (GRCm39)	missense	probably damaging	1.00
R4450:Slc11a1	UTSW	1	74,424,694 (GRCm39)	utr 3 prime	probably benign
R4638:Slc11a1	UTSW	1	74,414,437 (GRCm39)	start gained	probably benign
R4782:Slc11a1	UTSW	1	74,423,247 (GRCm39)	missense	probably damaging	0.98
R5069:Slc11a1	UTSW	1	74,424,343 (GRCm39)	missense	probably damaging	1.00
R5070:Slc11a1	UTSW	1	74,424,343 (GRCm39)	missense	probably damaging	1.00
R5215:Slc11a1	UTSW	1	74,422,936 (GRCm39)	intron	probably benign
R5333:Slc11a1	UTSW	1	74,423,304 (GRCm39)	missense	probably damaging	1.00
R5613:Slc11a1	UTSW	1	74,420,065 (GRCm39)	missense	probably damaging	1.00
R5621:Slc11a1	UTSW	1	74,420,065 (GRCm39)	missense	probably damaging	1.00
R5622:Slc11a1	UTSW	1	74,420,065 (GRCm39)	missense	probably damaging	1.00
R5950:Slc11a1	UTSW	1	74,416,335 (GRCm39)	missense	probably benign	0.40
R6239:Slc11a1	UTSW	1	74,423,274 (GRCm39)	missense	possibly damaging	0.82
R6776:Slc11a1	UTSW	1	74,423,244 (GRCm39)	missense	probably damaging	1.00
R7199:Slc11a1	UTSW	1	74,422,830 (GRCm39)	missense	possibly damaging	0.83
R7356:Slc11a1	UTSW	1	74,424,648 (GRCm39)	missense	probably benign
R8142:Slc11a1	UTSW	1	74,424,418 (GRCm39)	missense	probably benign
R8877:Slc11a1	UTSW	1	74,419,424 (GRCm39)	missense	probably damaging	1.00
R9026:Slc11a1	UTSW	1	74,416,325 (GRCm39)	missense	probably damaging	1.00
R9600:Slc11a1	UTSW	1	74,422,688 (GRCm39)	critical splice donor site	probably null
R9617:Slc11a1	UTSW	1	74,419,041 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GTGGCTAACTGGGTCTATCTGC -3'
(R):5'- TAAGAAGTGCTTGTGGGAGC -3'

Sequencing Primer
(F):5'- CTCTAGAGCATTCAGGCAGTC -3'
(R):5'- ATGCAACAGGTCCAGGC -3'

Posted On

2016-06-06