Mutagenetix > Incidental Mutation

Incidental Mutation 'R5159:Ireb2'

396881

Institutional Source

Beutler Lab

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

D9Ertd85e, Irp2

MMRRC Submission

042741-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5159 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54863789-54912530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54892547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 424 (N424S)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034843]

AlphaFold

Q811J3

Predicted Effect

probably benign
Transcript: ENSMUST00000034843
AA Change: N424S

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

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: N424S

Domain	Start	End	E-Value	Type
Pfam:Aconitase	59	155	6.5e-16	PFAM
Pfam:Aconitase	186	639	2e-129	PFAM
Pfam:Aconitase_C	767	896	1.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214023

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (63/63)

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene results in microcytic anemia, altered body iron homeostasis, and variable behavioral and neurological phenotypes that may include pathological signs of neurodegeneration or brain iron accumulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,153,308	M1340K	probably benign	Het
9930111J21Rik1	T	C	11: 48,948,525	T412A	probably benign	Het
Aldh5a1	T	A	13: 24,913,793	M420L	possibly damaging	Het
Armc2	A	G	10: 42,008,715	S77P	probably damaging	Het
Avil	A	G	10: 127,020,448		probably null	Het
Bmp5	T	A	9: 75,893,753	F388L	probably damaging	Het
Brca2	T	G	5: 150,542,108	V1779G	possibly damaging	Het
Cblb	T	A	16: 52,112,120	S147T	probably damaging	Het
Cblc	T	C	7: 19,785,308	E409G	probably benign	Het
Cdc34b	C	T	11: 94,742,060	R29W	probably damaging	Het
Clic6	T	A	16: 92,528,066	Y371N	probably benign	Het
Col5a2	A	G	1: 45,386,831		probably null	Het
Coro1a	A	T	7: 126,703,049	V42D	probably damaging	Het
Cpa3	C	T	3: 20,227,223	C173Y	probably damaging	Het
Crb1	A	C	1: 139,243,018	V817G	probably damaging	Het
Cyp2c39	A	G	19: 39,560,934	T299A	possibly damaging	Het
Dock5	G	A	14: 67,792,289	R1019C	probably benign	Het
Exoc8	T	C	8: 124,896,213	T472A	probably benign	Het
Fancc	A	G	13: 63,321,865		probably null	Het
Inpp5d	T	C	1: 87,676,342	L244P	probably damaging	Het
Krt35	T	C	11: 100,094,049	D261G	probably damaging	Het
Lipc	T	A	9: 70,812,910	I272L	probably benign	Het
Lpcat3	A	G	6: 124,699,394		probably benign	Het
Lzts1	T	C	8: 69,138,584	D304G	probably benign	Het
Mdn1	A	G	4: 32,774,008	I5540V	possibly damaging	Het
Msln	T	C	17: 25,751,589	S231G	probably benign	Het
Mup8	G	A	4: 60,221,062	T101M	probably benign	Het
Myh8	T	C	11: 67,288,353	I524T	probably damaging	Het
Pappa2	A	G	1: 158,761,619	C1679R	probably damaging	Het
Pcdhb1	T	C	18: 37,266,363	S456P	possibly damaging	Het
Pcdhga5	A	G	18: 37,695,666	N389S	probably benign	Het
Pitrm1	C	A	13: 6,567,471	S620R	probably benign	Het
Plod3	T	A	5: 136,995,078		probably benign	Het
Por	A	T	5: 135,730,917	Q194L	probably benign	Het
Prkag3	A	T	1: 74,741,487	Y396N	probably damaging	Het
R3hcc1	T	C	14: 69,697,604		probably null	Het
Rcan3	C	T	4: 135,425,281	S43N	probably damaging	Het
Rhot1	A	G	11: 80,220,272	T31A	probably damaging	Het
Rnps1	T	G	17: 24,418,512	S43A	unknown	Het
Rp1	T	C	1: 4,346,203	D1562G	possibly damaging	Het
Rps19-ps13	A	G	18: 40,726,375		noncoding transcript	Het
Serpina3c	A	T	12: 104,149,512	S258T	possibly damaging	Het
Smc2	G	A	4: 52,460,181	R519Q	possibly damaging	Het
Sorbs2	A	T	8: 45,795,730	T593S	probably benign	Het
Sptbn2	A	G	19: 4,737,857	T955A	probably benign	Het
Stfa3	T	C	16: 36,452,219	K40E	probably damaging	Het
Tmem87b	A	G	2: 128,824,458	E75G	probably benign	Het
Tmprss15	T	C	16: 79,003,410	Q595R	probably benign	Het
Trak1	A	T	9: 121,460,412	I597F	probably damaging	Het
Trat1	T	C	16: 48,734,937	D144G	probably damaging	Het
Trim25	T	C	11: 88,999,532	V15A	probably benign	Het
Tulp1	A	C	17: 28,359,060		probably null	Het
Txndc15	T	A	13: 55,717,921	M66K	probably benign	Het
Uhrf1bp1	A	G	17: 27,881,556	H323R	probably damaging	Het
Vmn1r206	T	A	13: 22,620,605	N144I	probably damaging	Het
Wwc2	T	C	8: 47,900,761	T113A	probably benign	Het
Xpo5	A	C	17: 46,217,609	E313D	probably damaging	Het
Zfp790	C	T	7: 29,829,767	H626Y	probably benign	Het

Other mutations in Ireb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Ireb2	APN	9	54899482	splice site	probably benign
IGL01576:Ireb2	APN	9	54892510	missense	probably damaging	1.00
IGL01844:Ireb2	APN	9	54865357	missense	probably benign	0.01
bonkers	UTSW	9	54896495	missense	probably benign	0.00
homicidal	UTSW	9	54886567	nonsense	probably null
remorseless	UTSW	9	54882333	missense	possibly damaging	0.83
tony_stark	UTSW	9	54903961	missense	probably damaging	1.00
R0143:Ireb2	UTSW	9	54885909	missense	probably benign	0.06
R0279:Ireb2	UTSW	9	54886593	missense	probably benign
R0400:Ireb2	UTSW	9	54896498	missense	probably benign
R0565:Ireb2	UTSW	9	54899983	missense	probably damaging	1.00
R0686:Ireb2	UTSW	9	54904176	missense	probably benign	0.44
R0706:Ireb2	UTSW	9	54892486	missense	probably benign
R0894:Ireb2	UTSW	9	54896577	missense	probably damaging	1.00
R1101:Ireb2	UTSW	9	54909702	missense	probably benign	0.35
R1680:Ireb2	UTSW	9	54881518	missense	probably damaging	1.00
R2074:Ireb2	UTSW	9	54881449	missense	probably benign
R2080:Ireb2	UTSW	9	54896552	missense	possibly damaging	0.85
R2891:Ireb2	UTSW	9	54899990	missense	probably benign	0.01
R3153:Ireb2	UTSW	9	54885946	critical splice donor site	probably null
R3154:Ireb2	UTSW	9	54885946	critical splice donor site	probably null
R3844:Ireb2	UTSW	9	54892505	missense	probably damaging	0.99
R4128:Ireb2	UTSW	9	54881432	missense	probably benign	0.32
R4803:Ireb2	UTSW	9	54906814	missense	probably benign	0.01
R5097:Ireb2	UTSW	9	54895384	missense	probably benign	0.04
R5227:Ireb2	UTSW	9	54896601	critical splice donor site	probably null
R5767:Ireb2	UTSW	9	54900516	missense	probably benign
R6005:Ireb2	UTSW	9	54908805	missense	probably damaging	1.00
R6127:Ireb2	UTSW	9	54882368	missense	probably benign
R6155:Ireb2	UTSW	9	54886527	missense	probably damaging	1.00
R6170:Ireb2	UTSW	9	54887372	missense	probably benign	0.00
R6341:Ireb2	UTSW	9	54908780	missense	probably damaging	0.99
R6707:Ireb2	UTSW	9	54903961	missense	probably damaging	1.00
R6973:Ireb2	UTSW	9	54882387	missense	probably benign	0.00
R7108:Ireb2	UTSW	9	54906641	missense	probably damaging	1.00
R7126:Ireb2	UTSW	9	54886567	nonsense	probably null
R7314:Ireb2	UTSW	9	54892510	missense	probably damaging	1.00
R7396:Ireb2	UTSW	9	54882333	missense	possibly damaging	0.83
R7472:Ireb2	UTSW	9	54884054	missense	probably benign	0.11
R7590:Ireb2	UTSW	9	54896495	missense	probably benign	0.00
R7842:Ireb2	UTSW	9	54909686	missense	probably benign	0.01
R7894:Ireb2	UTSW	9	54882336	missense	probably damaging	1.00
R8443:Ireb2	UTSW	9	54903981	missense	possibly damaging	0.94
R8902:Ireb2	UTSW	9	54892502	missense	probably benign	0.03
R9323:Ireb2	UTSW	9	54904239	critical splice donor site	probably null
R9505:Ireb2	UTSW	9	54906637	missense	probably damaging	1.00
RF006:Ireb2	UTSW	9	54881484	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TTTCCACGTGCAGTCTGGAC -3'
(R):5'- GCACTTAGTACATTGCTGGAATG -3'

Sequencing Primer
(F):5'- TCTGGACTGCTCAGTGGAGAC -3'
(R):5'- GCTGGAATGTTCTACAAATTTGC -3'

Posted On

2016-06-21