Mutagenetix > Incidental Mutation

Incidental Mutation 'R1895:Slc11a2'

209774

Institutional Source

Beutler Lab

Gene Symbol

Slc11a2

Ensembl Gene

ENSMUSG00000023030

Gene Name

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2

Synonyms

DMT1, Nramp2, van, microcytic anemia, viable anaemia, DCT1

MMRRC Submission

039915-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

R1895 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

100285779-100322090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100301775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 249 (R249C)

Ref Sequence

ENSEMBL: ENSMUSP00000116463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000124324] [ENSMUST00000136168] [ENSMUST00000138843]

AlphaFold

P49282

Predicted Effect

probably benign
Transcript: ENSMUST00000023774
AA Change: R249C

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: R249C

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:Nramp	90	474	1.1e-122	PFAM
transmembrane domain	505	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123461

SMART Domains

Protein: ENSMUSP00000119056
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:Nramp	90	170	2.9e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124324

SMART Domains

Protein: ENSMUSP00000114702
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
Pfam:Nramp	1	165	1.4e-39	PFAM
transmembrane domain	196	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136168

Predicted Effect

probably benign
Transcript: ENSMUST00000138843
AA Change: R249C

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030
AA Change: R249C

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:Nramp	90	474	4.7e-118	PFAM
transmembrane domain	505	527	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140535

Meta Mutation Damage Score

0.4315

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.2%
20x: 86.6%

Validation Efficiency

96% (100/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit microcytic, hypochromic anemia associated with impaired intestinal iron absorption and erythroblast iron uptake. Mutants have reduced viability and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,412,314 (GRCm39)	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,365,805 (GRCm39)	I110N	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgef12	G	T	9: 42,917,152 (GRCm39)	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
AU015836	T	C	X: 93,012,985 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Cdh8	T	C	8: 100,006,189 (GRCm39)	T133A	possibly damaging	Het
Cep295	T	C	9: 15,243,399 (GRCm39)	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,656,829 (GRCm39)	K749N	unknown	Het
Col6a3	T	A	1: 90,731,433 (GRCm39)	M1000L	probably benign	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Dmxl1	G	T	18: 50,088,981 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,835,494 (GRCm39)	D990G	probably benign	Het
Dpp7	G	T	2: 25,243,691 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,973,677 (GRCm39)	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,476,902 (GRCm39)	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fam20a	T	C	11: 109,564,380 (GRCm39)	K458E	probably benign	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Glmn	T	C	5: 107,718,110 (GRCm39)	D269G	probably benign	Het
Gpatch4	A	G	3: 87,959,409 (GRCm39)	Y106C	probably damaging	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Hdac7	T	C	15: 97,694,767 (GRCm39)	D701G	probably damaging	Het
Hectd2	T	A	19: 36,591,860 (GRCm39)	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,316,063 (GRCm39)		probably benign	Het
Kdm4b	T	A	17: 56,704,340 (GRCm39)	V272E	probably damaging	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kif11	G	A	19: 37,375,847 (GRCm39)	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Muc5b	A	C	7: 141,411,382 (GRCm39)	T1443P	unknown	Het
Mxi1	G	A	19: 53,358,775 (GRCm39)	R236H	probably benign	Het
Nav1	A	T	1: 135,386,396 (GRCm39)	W1211R	probably damaging	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Nxpe5	T	C	5: 138,249,785 (GRCm39)	V525A	probably damaging	Het
Oas1f	A	T	5: 120,993,648 (GRCm39)	T287S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or6ae1	T	A	7: 139,742,726 (GRCm39)	I46F	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Pakap	T	C	4: 57,638,068 (GRCm39)	V35A	probably benign	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Plekha7	T	C	7: 115,744,209 (GRCm39)	E764G	probably damaging	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Prob1	T	A	18: 35,785,942 (GRCm39)	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,681,768 (GRCm39)		probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,452,337 (GRCm39)	V305D	probably damaging	Het
Slc14a1	T	C	18: 78,152,912 (GRCm39)	I276V	possibly damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Ssh2	C	G	11: 77,340,571 (GRCm39)	D574E	probably damaging	Het
Stil	T	C	4: 114,881,072 (GRCm39)	S539P	probably benign	Het
Syt4	T	C	18: 31,577,141 (GRCm39)	K71R	probably damaging	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,226,500 (GRCm39)	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Tshz1	A	T	18: 84,031,558 (GRCm39)	L950Q	probably damaging	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	probably damaging	Het

Other mutations in Slc11a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Slc11a2	APN	15	100,295,618 (GRCm39)	missense	probably benign
IGL00923:Slc11a2	APN	15	100,295,669 (GRCm39)	missense	probably benign	0.13
IGL01645:Slc11a2	APN	15	100,286,999 (GRCm39)	missense	probably benign	0.05
IGL02146:Slc11a2	APN	15	100,299,169 (GRCm39)	missense	probably damaging	1.00
IGL02397:Slc11a2	APN	15	100,299,530 (GRCm39)	missense	probably damaging	1.00
IGL02534:Slc11a2	APN	15	100,299,207 (GRCm39)	missense	probably benign	0.03
IGL02678:Slc11a2	APN	15	100,310,081 (GRCm39)	missense	possibly damaging	0.71
R0537:Slc11a2	UTSW	15	100,303,679 (GRCm39)	missense	probably damaging	1.00
R0538:Slc11a2	UTSW	15	100,306,097 (GRCm39)	missense	probably damaging	1.00
R1305:Slc11a2	UTSW	15	100,307,963 (GRCm39)	critical splice donor site	probably null
R1750:Slc11a2	UTSW	15	100,299,168 (GRCm39)	missense	probably damaging	1.00
R1752:Slc11a2	UTSW	15	100,303,687 (GRCm39)	missense	probably damaging	1.00
R2278:Slc11a2	UTSW	15	100,307,962 (GRCm39)	critical splice donor site	probably null
R2519:Slc11a2	UTSW	15	100,299,204 (GRCm39)	missense	probably damaging	1.00
R4724:Slc11a2	UTSW	15	100,304,219 (GRCm39)	missense	possibly damaging	0.65
R5643:Slc11a2	UTSW	15	100,301,068 (GRCm39)	missense	probably benign
R5667:Slc11a2	UTSW	15	100,301,169 (GRCm39)	missense	probably damaging	1.00
R5671:Slc11a2	UTSW	15	100,301,169 (GRCm39)	missense	probably damaging	1.00
R5994:Slc11a2	UTSW	15	100,295,562 (GRCm39)	missense	probably benign
R7008:Slc11a2	UTSW	15	100,307,205 (GRCm39)	missense	probably damaging	1.00
R7208:Slc11a2	UTSW	15	100,300,213 (GRCm39)	missense	probably benign	0.00
R7547:Slc11a2	UTSW	15	100,295,651 (GRCm39)	missense	possibly damaging	0.83
R7829:Slc11a2	UTSW	15	100,307,142 (GRCm39)	missense	possibly damaging	0.95
R9015:Slc11a2	UTSW	15	100,301,186 (GRCm39)	missense	probably benign	0.12
R9362:Slc11a2	UTSW	15	100,304,236 (GRCm39)	missense	probably damaging	1.00
R9573:Slc11a2	UTSW	15	100,304,225 (GRCm39)	missense	probably damaging	1.00
Z1188:Slc11a2	UTSW	15	100,305,980 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAACACTAGCCCAGCCTTTTG -3'
(R):5'- CATATTCCGGGCAGTTGTTACAG -3'

Sequencing Primer
(F):5'- CACATTTCCTGGTCAATTTGGTG -3'
(R):5'- CGGGCAGTTGTTACAGAAGGTG -3'

Posted On

2014-06-30