Mutagenetix > Incidental Mutation

Incidental Mutation 'R9573:Slc11a2'

722139

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

R9573 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100285779-100322090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100304225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 158 (I158F)

Ref Sequence

ENSEMBL: ENSMUSP00000023774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000124324] [ENSMUST00000136168] [ENSMUST00000138843] [ENSMUST00000154331] [ENSMUST00000154676]

AlphaFold

P49282

Predicted Effect

probably damaging
Transcript: ENSMUST00000023774
AA Change: I158F

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

SMART Domains

Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: I158F

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 damaging
Transcript: ENSMUST00000123461
AA Change: I158F

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

SMART Domains

Protein: ENSMUSP00000119056
Gene: ENSMUSG00000023030
AA Change: I158F

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 damaging
Transcript: ENSMUST00000138843
AA Change: I158F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030
AA Change: I158F

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

probably benign
Transcript: ENSMUST00000154331

SMART Domains

Protein: ENSMUSP00000115357
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
low complexity region	41	56	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154676

SMART Domains

Protein: ENSMUSP00000115019
Gene: ENSMUSG00000023030

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,050,229 (GRCm39)	V472E	probably damaging	Het
Ak3	T	C	19: 29,003,667 (GRCm39)	I170V	probably benign	Het
Ank3	T	A	10: 69,791,977 (GRCm39)	L1058*	probably null	Het
Ankrd60	A	G	2: 173,410,791 (GRCm39)	V243A	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arid3c	T	G	4: 41,726,003 (GRCm39)	E200A	probably benign	Het
Astn2	T	G	4: 65,566,591 (GRCm39)	I856L	probably benign	Het
Bcs1l	C	A	1: 74,629,492 (GRCm39)	R177S	probably damaging	Het
Bin2	A	T	15: 100,560,433 (GRCm39)	F43I	probably damaging	Het
Braf	A	G	6: 39,600,544 (GRCm39)	L691P	probably damaging	Het
Bud23	C	T	5: 135,082,274 (GRCm39)	V266I	possibly damaging	Het
Casp12	A	T	9: 5,354,629 (GRCm39)	I333L	probably benign	Het
Cavin2	T	A	1: 51,328,795 (GRCm39)	I84N	probably damaging	Het
Ccdc168	A	C	1: 44,095,307 (GRCm39)	Y1930*	probably null	Het
Ccdc196	A	T	12: 78,244,098 (GRCm39)	N17I		Het
Cep170b	T	A	12: 112,691,154 (GRCm39)	F24I	probably damaging	Het
Chd9	A	G	8: 91,704,302 (GRCm39)	Y719C	unknown	Het
Commd7	A	G	2: 153,463,981 (GRCm39)	M137T	probably damaging	Het
Dmbt1	G	A	7: 130,657,910 (GRCm39)		probably null	Het
Dnah12	A	C	14: 26,414,619 (GRCm39)	T7P	probably benign	Het
Elapor1	A	T	3: 108,373,094 (GRCm39)	I548N	probably damaging	Het
Endod1	A	T	9: 14,292,247 (GRCm39)	L7Q	probably damaging	Het
Galnt14	C	T	17: 73,802,662 (GRCm39)	V477M	probably damaging	Het
Glis2	C	T	16: 4,429,505 (GRCm39)	R211C	probably damaging	Het
Gm4744	A	T	6: 40,925,497 (GRCm39)	V122D		Het
Gm4952	G	A	19: 12,604,090 (GRCm39)	M167I	probably benign	Het
Hyal4	T	C	6: 24,756,508 (GRCm39)	V242A	possibly damaging	Het
Ift122	T	G	6: 115,857,646 (GRCm39)	S131A	probably benign	Het
Il4ra	T	A	7: 125,169,158 (GRCm39)	S137T	possibly damaging	Het
Lcor	T	A	19: 41,573,471 (GRCm39)	L742Q	probably damaging	Het
Lpin2	A	G	17: 71,538,185 (GRCm39)	K315R	probably benign	Het
Map3k6	T	C	4: 132,979,774 (GRCm39)	Y1258H	probably damaging	Het
Mapk9	A	T	11: 49,769,239 (GRCm39)	K290N	probably damaging	Het
Mfhas1	C	T	8: 36,143,903 (GRCm39)	H1045Y	possibly damaging	Het
Ndufaf7	C	A	17: 79,246,036 (GRCm39)	Q90K	probably damaging	Het
Nlrc3	A	T	16: 3,771,841 (GRCm39)	V157E	probably benign	Het
Npas4	A	G	19: 5,035,837 (GRCm39)	F776L	probably benign	Het
Nuggc	A	C	14: 65,848,603 (GRCm39)	D184A	probably benign	Het
Ogdhl	A	G	14: 32,066,678 (GRCm39)	E795G	probably damaging	Het
Or5a1	A	G	19: 12,097,509 (GRCm39)	I189T	probably damaging	Het
Or9a2	T	G	6: 41,748,940 (GRCm39)	I98L	probably benign	Het
Pcbp1	A	T	6: 86,502,677 (GRCm39)	M74K	possibly damaging	Het
Plk4	A	G	3: 40,763,257 (GRCm39)	D476G	probably benign	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Rab44	A	T	17: 29,364,277 (GRCm39)	Y617F	unknown	Het
Rabepk	T	C	2: 34,675,627 (GRCm39)	R168G	probably benign	Het
Rbmyf9	T	A	Y: 3,775,370 (GRCm39)	M40K	possibly damaging	Het
Rif1	T	G	2: 52,000,466 (GRCm39)	S1307A	probably benign	Het
Ror2	C	T	13: 53,265,467 (GRCm39)	V542I	probably benign	Het
Rtp1	A	G	16: 23,250,159 (GRCm39)	I175V	possibly damaging	Het
Slc24a3	T	G	2: 145,455,548 (GRCm39)	M479R	probably damaging	Het
Slc4a9	T	C	18: 36,668,589 (GRCm39)	F723S	probably damaging	Het
Syne2	C	A	12: 75,927,134 (GRCm39)	N93K	probably damaging	Het
Sytl2	A	G	7: 90,057,599 (GRCm39)	Q846R	probably damaging	Het
Tas2r116	A	C	6: 132,833,140 (GRCm39)	H247P	probably benign	Het
Tcstv3	T	C	13: 120,779,130 (GRCm39)	S10P	probably damaging	Het
Tgm7	T	C	2: 120,934,606 (GRCm39)	N124S	probably benign	Het
Tmem219	A	T	7: 126,490,933 (GRCm39)	Y175N	probably damaging	Het
Tnfrsf18	G	A	4: 156,112,484 (GRCm39)	G114S	possibly damaging	Het
Trim38	G	A	13: 23,966,688 (GRCm39)	C45Y	probably benign	Het
Tshz1	T	C	18: 84,032,404 (GRCm39)	E668G	probably benign	Het
Ubr4	T	A	4: 139,148,450 (GRCm39)	M382K		Het
Vps39	T	C	2: 120,155,179 (GRCm39)	E549G	possibly damaging	Het
Wdr35	G	A	12: 9,078,014 (GRCm39)	G1135D	probably benign	Het
Zbtb46	A	G	2: 181,053,548 (GRCm39)	L388P	probably benign	Het
Zdhhc25	T	A	15: 88,485,307 (GRCm39)	M214K	probably damaging	Het
Zfp735	G	A	11: 73,602,936 (GRCm39)	E627K	possibly 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
R1895:Slc11a2	UTSW	15	100,301,775 (GRCm39)	missense	probably benign	0.10
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
Z1188:Slc11a2	UTSW	15	100,305,980 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CGGCTCCAGACTAGTTGAAC -3'
(R):5'- GAATAGAAACCCCATTCTTCTCCTG -3'

Sequencing Primer
(F):5'- CCTTGAACACTAAAGGGTTGGC -3'
(R):5'- TGCTTCACAGTCTCCCACAGG -3'

Posted On

2022-08-09