Mutagenetix > Incidental Mutation

Incidental Mutation 'R2219:Slc11a1'

241297

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

040221-MU

Accession Numbers

Essential gene?

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

Stock #

R2219 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74414354-74425221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74419824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 166 (F166I)

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: F207I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: F207I

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: ENSMUST00000135137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147233

Predicted Effect

probably damaging
Transcript: ENSMUST00000187516
AA Change: F166I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177
AA Change: F166I

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: ENSMUST00000155865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149166

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	A	G	7: 42,095,769 (GRCm39)	Y160H	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgre1	T	A	17: 57,708,912 (GRCm39)	N34K	possibly damaging	Het
Ago2	T	A	15: 73,018,260 (GRCm39)	E59D	probably benign	Het
Akap8l	G	T	17: 32,553,605 (GRCm39)	Q372K	probably benign	Het
Aox1	A	G	1: 58,388,289 (GRCm39)		probably null	Het
Apc2	T	C	10: 80,144,943 (GRCm39)	V618A	probably benign	Het
Cacna1d	A	T	14: 29,764,047 (GRCm39)	C2140S	probably damaging	Het
Cadps2	A	G	6: 23,410,831 (GRCm39)	L671P	probably damaging	Het
Capn9	C	T	8: 125,335,898 (GRCm39)	R529*	probably null	Het
Ccdc180	T	A	4: 45,944,949 (GRCm39)	N1452K	probably damaging	Het
Cdh5	A	T	8: 104,869,538 (GRCm39)	I755F	possibly damaging	Het
Cdkal1	T	A	13: 29,538,741 (GRCm39)	M473L	probably benign	Het
Cfap65	T	C	1: 74,943,184 (GRCm39)	I1614V	probably damaging	Het
Champ1	A	G	8: 13,930,017 (GRCm39)	H725R	probably damaging	Het
Cntnap5a	A	T	1: 116,508,369 (GRCm39)	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,534,341 (GRCm39)	N94T	probably benign	Het
Cpne7	G	T	8: 123,851,177 (GRCm39)	V155L	probably benign	Het
Dhx29	T	C	13: 113,089,338 (GRCm39)	V703A	probably damaging	Het
Dhx30	A	G	9: 109,916,703 (GRCm39)	L575P	probably damaging	Het
Dmc1	T	A	15: 79,469,327 (GRCm39)	H156L	possibly damaging	Het
Dnmt3a	A	G	12: 3,899,654 (GRCm39)		probably benign	Het
Dst	C	G	1: 34,209,514 (GRCm39)	L869V	probably damaging	Het
Eif3d	A	T	15: 77,849,142 (GRCm39)	M180K	probably benign	Het
Erbb3	T	C	10: 128,405,740 (GRCm39)	T1173A	probably damaging	Het
Fat4	A	T	3: 39,064,364 (GRCm39)	K4773N	probably damaging	Het
Fbn2	G	A	18: 58,186,035 (GRCm39)	P1771L	possibly damaging	Het
Fer1l4	T	G	2: 155,873,684 (GRCm39)	Y1207S	probably damaging	Het
Fermt2	G	A	14: 45,713,354 (GRCm39)	T87I	probably benign	Het
Fpr3	T	A	17: 18,191,644 (GRCm39)	M305K	possibly damaging	Het
Fzd2	A	G	11: 102,496,249 (GRCm39)	E231G	probably benign	Het
Ggcx	T	C	6: 72,404,965 (GRCm39)	Y458H	probably benign	Het
Ggt7	A	G	2: 155,337,639 (GRCm39)	S504P	probably damaging	Het
Gm4884	A	G	7: 40,692,910 (GRCm39)	H293R	possibly damaging	Het
Gm5475	A	G	15: 100,322,094 (GRCm39)		probably benign	Het
Gm5930	A	T	14: 44,573,993 (GRCm39)	L115M	probably damaging	Het
Itln1	T	A	1: 171,359,115 (GRCm39)	T122S	probably damaging	Het
Itpr3	T	A	17: 27,334,027 (GRCm39)	L2033Q	probably benign	Het
Lama2	T	C	10: 26,919,565 (GRCm39)	D2222G	probably damaging	Het
Lars2	T	C	9: 123,247,845 (GRCm39)	L334P	probably damaging	Het
Ly9	T	C	1: 171,425,249 (GRCm39)		probably null	Het
Man1a	T	C	10: 53,853,145 (GRCm39)	I324M	probably damaging	Het
Mast3	T	C	8: 71,233,607 (GRCm39)	E994G	probably damaging	Het
Mettl21a	A	T	1: 64,655,442 (GRCm39)	V46E	probably damaging	Het
Mmp15	A	G	8: 96,096,801 (GRCm39)	D398G	probably benign	Het
Mybpc1	T	A	10: 88,391,540 (GRCm39)	D319V	probably damaging	Het
Or10ad1c	T	A	15: 98,084,848 (GRCm39)	K277*	probably null	Het
Or4a47	A	T	2: 89,665,769 (GRCm39)	D173E	probably damaging	Het
Or4a78	A	T	2: 89,498,211 (GRCm39)	N6K	possibly damaging	Het
Or4c35	G	A	2: 89,808,256 (GRCm39)	V45I	possibly damaging	Het
Or4f61	A	T	2: 111,922,752 (GRCm39)	I98N	probably damaging	Het
Or5b113	T	A	19: 13,342,901 (GRCm39)	I303N	possibly damaging	Het
Or5p5	G	A	7: 107,414,429 (GRCm39)	V213I	probably benign	Het
Or9m1	A	C	2: 87,733,269 (GRCm39)	Y250*	probably null	Het
Otogl	C	T	10: 107,692,838 (GRCm39)	C882Y	probably damaging	Het
Parp10	A	G	15: 76,117,783 (GRCm39)	Y868H	probably damaging	Het
Pick1	T	A	15: 79,123,899 (GRCm39)	I90N	probably damaging	Het
Piezo1	C	T	8: 123,218,227 (GRCm39)	V1170I	probably benign	Het
Pim3	G	A	15: 88,747,115 (GRCm39)	V54I	possibly damaging	Het
Pinlyp	T	C	7: 24,245,433 (GRCm39)		probably benign	Het
Pira12	A	T	7: 3,900,488 (GRCm39)	N87K	probably benign	Het
Ppfia3	G	A	7: 45,004,314 (GRCm39)	Q473*	probably null	Het
Rab3gap2	G	A	1: 185,008,113 (GRCm39)	G1056E	probably damaging	Het
Ralgapa2	G	A	2: 146,263,599 (GRCm39)	T706I	probably benign	Het
Reln	T	C	5: 22,177,045 (GRCm39)	T1874A	possibly damaging	Het
Rftn1	C	A	17: 50,476,173 (GRCm39)	M1I	probably null	Het
Ros1	T	A	10: 52,042,175 (GRCm39)	Q250L	probably damaging	Het
Slc17a9	A	G	2: 180,373,755 (GRCm39)	T59A	probably benign	Het
Slc26a5	T	C	5: 22,028,476 (GRCm39)	K364R	probably damaging	Het
Slitrk2	T	C	X: 65,698,754 (GRCm39)	I415T	probably damaging	Het
Stom	A	G	2: 35,211,613 (GRCm39)	I136T	possibly damaging	Het
Strc	G	T	2: 121,195,004 (GRCm39)	P1728T	probably damaging	Het
Telo2	C	A	17: 25,322,673 (GRCm39)	V640F	probably benign	Het
Tg	T	C	15: 66,553,782 (GRCm39)	V399A	probably benign	Het
Tmem214	A	G	5: 31,030,975 (GRCm39)	K383E	possibly damaging	Het
Tomm40l	A	T	1: 171,049,550 (GRCm39)	L13*	probably null	Het
Tonsl	A	T	15: 76,518,840 (GRCm39)	N526K	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tymp	T	A	15: 89,258,965 (GRCm39)	M240L	probably benign	Het
Ubr2	A	T	17: 47,296,968 (GRCm39)	S271T	possibly damaging	Het
Uggt2	A	T	14: 119,312,749 (GRCm39)	N353K	probably damaging	Het
Ugt2b35	T	A	5: 87,151,191 (GRCm39)	F266I	possibly damaging	Het
Vmn2r103	C	T	17: 20,013,909 (GRCm39)	R234W	probably damaging	Het
Zfp109	C	A	7: 23,927,886 (GRCm39)	D508Y	probably damaging	Het
Zfp623	T	C	15: 75,819,379 (GRCm39)	S112P	possibly damaging	Het
Zfp735	A	G	11: 73,601,851 (GRCm39)	N265S	possibly damaging	Het
Zfp879	A	G	11: 50,724,094 (GRCm39)	C321R	probably damaging	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
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
R5068:Slc11a1	UTSW	1	74,424,343 (GRCm39)	missense	probably damaging	1.00
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'- AGAGAAAGCCCCTCATCTTGGG -3'
(R):5'- AGGAACTTGGTCAGCCCACTAG -3'

Sequencing Primer
(F):5'- CATCCAGCTATATGGTGTGAGCAAC -3'
(R):5'- TGGTCAGCCCACTAGAACCTTC -3'

Posted On

2014-10-15