Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Slc11a1'

472361

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

044140-MU

Accession Numbers

Essential gene?

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

Stock #

R5950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74414354-74425221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74416335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 54 (W54L)

Ref Sequence

ENSEMBL: ENSMUSP00000139455 (fasta)

Gene Model

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

AlphaFold

P41251

Predicted Effect

probably benign
Transcript: ENSMUST00000027368
AA Change: W95L

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: W95L

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 benign
Transcript: ENSMUST00000187516
AA Change: W54L

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177
AA Change: W54L

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

Meta Mutation Damage Score

0.1151

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,981,879 (GRCm39)	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793 (GRCm38)	Y113N	probably benign	Het
Arid4b	T	A	13: 14,365,849 (GRCm39)		probably benign	Het
Atf6	C	T	1: 170,662,448 (GRCm39)	G271R	probably damaging	Het
Bnip5	T	A	17: 29,124,729 (GRCm39)	Q256L	possibly damaging	Het
Cct8l1	C	A	5: 25,722,741 (GRCm39)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,894,561 (GRCm39)	E102G	probably damaging	Het
Celsr1	A	T	15: 85,916,701 (GRCm39)	V424E	probably damaging	Het
Ces1h	T	C	8: 94,089,587 (GRCm39)	T271A	probably benign	Het
Cfap44	T	C	16: 44,300,210 (GRCm39)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,935,583 (GRCm39)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,313,934 (GRCm39)		probably benign	Het
Dis3l2	A	G	1: 86,948,830 (GRCm39)	D589G	probably damaging	Het
Dlg1	A	G	16: 31,484,401 (GRCm39)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,311,752 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,492,430 (GRCm39)	T723S	probably benign	Het
Dsg3	A	T	18: 20,671,586 (GRCm39)	N764Y	probably damaging	Het
Dst	G	T	1: 34,301,141 (GRCm39)	R3654L	probably damaging	Het
Dynlt5	T	G	4: 102,861,447 (GRCm39)	L147R	probably damaging	Het
Evl	C	T	12: 108,641,812 (GRCm39)	T198I	probably benign	Het
Hectd2	A	G	19: 36,574,639 (GRCm39)		probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,174,072 (GRCm39)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,722,403 (GRCm39)	N41K	probably damaging	Het
Kif6	G	T	17: 50,022,116 (GRCm39)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,477,790 (GRCm39)	D426V	probably damaging	Het
Knop1	A	C	7: 118,452,557 (GRCm39)	V54G	probably damaging	Het
Lama4	T	A	10: 38,906,444 (GRCm39)	V270D	probably benign	Het
Lnx2	A	G	5: 146,961,160 (GRCm39)		probably null	Het
Lrp5	A	T	19: 3,652,333 (GRCm39)	V1179E	probably benign	Het
Lrpprc	T	G	17: 85,047,598 (GRCm39)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,599,510 (GRCm39)		probably benign	Het
Ltbp1	A	T	17: 75,580,865 (GRCm39)	D660V	probably damaging	Het
Macf1	C	G	4: 123,333,229 (GRCm39)		probably null	Het
Map3k21	C	A	8: 126,668,499 (GRCm39)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,324,253 (GRCm39)	D895E	possibly damaging	Het
Mink1	T	A	11: 70,500,412 (GRCm39)	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,069,467 (GRCm39)	E108G	probably damaging	Het
Mtcl3	T	C	10: 29,019,644 (GRCm39)		probably benign	Het
Nars1	A	G	18: 64,643,556 (GRCm39)	V141A	possibly damaging	Het
Or8g34	T	C	9: 39,373,633 (GRCm39)	V299A	probably benign	Het
Pard3b	T	A	1: 62,255,690 (GRCm39)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,717,186 (GRCm39)	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,012,169 (GRCm39)	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,140,529 (GRCm39)	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,396,361 (GRCm39)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,721,179 (GRCm39)	T109A	probably damaging	Het
Rai1	T	A	11: 60,078,419 (GRCm39)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,785,050 (GRCm39)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,640,190 (GRCm39)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,245,306 (GRCm39)	T134S	probably benign	Het
Skint1	A	G	4: 111,876,532 (GRCm39)	Y151C	probably benign	Het
Slc49a3	A	T	5: 108,593,351 (GRCm39)	H162Q	probably damaging	Het
Synpo2l	T	A	14: 20,716,003 (GRCm39)	Q191L	probably benign	Het
Tank	A	G	2: 61,483,913 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,215,117 (GRCm39)		probably null	Het
Trdc	T	C	14: 54,381,768 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,697,787 (GRCm39)	I63V	probably null	Het
Ust	T	C	10: 8,123,865 (GRCm39)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,472,652 (GRCm39)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,423,179 (GRCm39)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,341,664 (GRCm39)	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,839,710 (GRCm39)	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zfp472	T	A	17: 33,196,481 (GRCm39)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,421,532 (GRCm39)	P66H	probably benign	Het
Zfp712	A	T	13: 67,192,881 (GRCm39)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,224,498 (GRCm39)	Q200*	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
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
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'- AGACCCCAGTTTTCCAGAGC -3'
(R):5'- TATGAATTGAGCCTGGGAGC -3'

Sequencing Primer
(F):5'- AGTTTTCCAGAGCCGGCTG -3'
(R):5'- AATTGAGCCTGGGAGCTCCTG -3'

Posted On

2017-03-31