Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Slc11a1'

388515

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

042659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5069 (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: 96.7%
20x: 93.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	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
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	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
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	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
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	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
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably 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

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
R5068: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'- GGCTAACTGGGTCTATCTGCTC -3'
(R):5'- GCCCATATAAGAAGTGCTTGTGG -3'

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

Posted On

2016-06-06