Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Slc11a2'

481030

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

044173-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

R5994 (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 C at 100295562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 520 (T520A)

Ref Sequence

ENSEMBL: ENSMUSP00000116463 (fasta)

Gene Model

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

AlphaFold

P49282

Predicted Effect

probably benign
Transcript: ENSMUST00000023774
AA Change: T520A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: T520A

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: ENSMUST00000124324
AA Change: T211A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114702
Gene: ENSMUSG00000023030
AA Change: T211A

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: ENSMUST00000138843
AA Change: T520A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030
AA Change: T520A

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,647,862 (GRCm39)	H1118L	probably benign	Het
Abca8b	A	G	11: 109,840,592 (GRCm39)		probably null	Het
Abcb5	A	T	12: 118,928,995 (GRCm39)		probably null	Het
Adcy6	A	T	15: 98,491,545 (GRCm39)	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,562,140 (GRCm39)	C312S	probably damaging	Het
Ano8	C	T	8: 71,937,478 (GRCm39)	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,886,187 (GRCm39)	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,715,935 (GRCm39)	L195P	probably damaging	Het
Cfap54	A	G	10: 92,874,943 (GRCm39)	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,831,689 (GRCm39)		probably benign	Het
Cyp4x1	T	C	4: 114,979,142 (GRCm39)	I152V	probably benign	Het
Dglucy	G	A	12: 100,808,959 (GRCm39)	R219Q	probably benign	Het
Disp3	G	T	4: 148,338,741 (GRCm39)	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,478,517 (GRCm39)	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,493,377 (GRCm39)	I105N	probably damaging	Het
Eepd1	C	T	9: 25,514,749 (GRCm39)	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,294 (GRCm39)	S155C	probably benign	Het
Gm10134	A	T	2: 28,396,258 (GRCm39)	E51V	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga7	T	C	8: 23,740,281 (GRCm39)	E83G	probably benign	Het
Gpr12	T	C	5: 146,520,241 (GRCm39)	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,141,372 (GRCm39)	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,239,607 (GRCm39)	S3282P	unknown	Het
Ift74	C	A	4: 94,579,961 (GRCm39)	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,285 (GRCm39)	R420L	probably damaging	Het
Krt77	T	A	15: 101,771,290 (GRCm39)	I338F	probably damaging	Het
Limch1	A	T	5: 67,131,965 (GRCm39)	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,469,234 (GRCm39)	H270L	probably benign	Het
Myrf	A	T	19: 10,196,481 (GRCm39)	L504Q	probably null	Het
Nckipsd	A	G	9: 108,691,176 (GRCm39)	Q366R	probably benign	Het
Npy5r	A	T	8: 67,134,751 (GRCm39)	V14D	probably benign	Het
Nrap	T	A	19: 56,340,031 (GRCm39)	R830*	probably null	Het
Ogfrl1	A	T	1: 23,418,070 (GRCm39)	Y103N	probably damaging	Het
Or10g7	A	T	9: 39,905,519 (GRCm39)	R138*	probably null	Het
P2rx4	T	A	5: 122,863,142 (GRCm39)	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,906,947 (GRCm39)	T71S	probably benign	Het
Paip2b	C	A	6: 83,785,867 (GRCm39)	S121I	probably damaging	Het
Pofut1	C	T	2: 153,103,149 (GRCm39)	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,101,004 (GRCm39)	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,584,261 (GRCm39)	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,501,725 (GRCm39)		probably null	Het
Psd3	C	T	8: 68,172,620 (GRCm39)	A894T	probably damaging	Het
Pygm	A	T	19: 6,448,073 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,468,560 (GRCm39)	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,203,373 (GRCm39)	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,740,986 (GRCm39)	F575L	probably benign	Het
Rassf6	A	G	5: 90,765,627 (GRCm39)	L28S	probably damaging	Het
Rbp3	G	T	14: 33,676,857 (GRCm39)	K268N	probably damaging	Het
Rela	C	T	19: 5,697,092 (GRCm39)	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,473,894 (GRCm39)	S102R	probably damaging	Het
Scarf2	A	G	16: 17,624,243 (GRCm39)	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,429,403 (GRCm39)	I241T	probably damaging	Het
Septin7	T	C	9: 25,199,494 (GRCm39)	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,357,570 (GRCm39)	F191L	probably damaging	Het
Siglec15	C	A	18: 78,090,590 (GRCm39)	C236F	probably damaging	Het
Slc26a11	C	A	11: 119,270,738 (GRCm39)	F553L	probably benign	Het
Smchd1	G	A	17: 71,672,404 (GRCm39)	P1596S	possibly damaging	Het
Taar7b	A	G	10: 23,876,246 (GRCm39)	H137R	probably damaging	Het
Thap12	T	A	7: 98,365,237 (GRCm39)	C468*	probably null	Het
Timp4	C	T	6: 115,224,315 (GRCm39)	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,065,003 (GRCm39)	K48E	probably damaging	Het
Trmt10a	T	A	3: 137,862,475 (GRCm39)	I255N	probably damaging	Het
Ttll10	T	C	4: 156,133,189 (GRCm39)		probably null	Het
Tut7	T	G	13: 59,937,023 (GRCm39)	Y806S	probably damaging	Het
Ube4b	A	G	4: 149,457,389 (GRCm39)	Y283H	probably damaging	Het
Ucp1	G	T	8: 84,020,567 (GRCm39)	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596 (GRCm39)		probably benign	Het
Vps13b	T	C	15: 35,875,918 (GRCm39)	S2768P	probably damaging	Het
Zfp101	T	A	17: 33,599,936 (GRCm39)	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464 (GRCm39)	V2527M	possibly damaging	Het
Zfp503	T	A	14: 22,035,630 (GRCm39)	T429S	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
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'- CCGGCATTGTATAAGCCTTATG -3'
(R):5'- ACAACAGGCACTTACCGTG -3'

Sequencing Primer
(F):5'- AAGCCTTATGTTTAATCTCCAGTACC -3'
(R):5'- ACCGTGCTCTTTGTTTTGCAGAG -3'

Posted On

2017-06-26