Mutagenetix > Incidental Mutations

Incidental Mutation 'R4803:Ireb2'

370481

Institutional Source

Beutler Lab

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

D9Ertd85e, Irp2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54863789-54912530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54906814 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 829 (E829G)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034843
AA Change: E829G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: E829G

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

noncoding transcript
Transcript: ENSMUST00000213482

Predicted Effect

probably benign
Transcript: ENSMUST00000214023

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Anxa8	T	A	14: 34,092,622		probably null	Het
Ap4e1	A	G	2: 127,049,559	I83M	probably benign	Het
Arhgap44	G	C	11: 65,053,095	P197A	probably benign	Het
Asb1	T	A	1: 91,552,329	V157E	probably damaging	Het
B3gat1	T	A	9: 26,755,690	Y73N	probably benign	Het
Bmp8a	G	A	4: 123,324,569	T219I	possibly damaging	Het
Cacna1c	G	A	6: 118,751,541	S285F	probably damaging	Het
Cd163	A	G	6: 124,312,430	D369G	probably damaging	Het
Ckap2l	C	T	2: 129,269,256	G674R	probably damaging	Het
Cog2	A	G	8: 124,535,451	Y276C	probably damaging	Het
Col16a1	A	T	4: 130,055,108		probably benign	Het
Col5a1	G	A	2: 28,011,341	G1282R	unknown	Het
Cyp2c29	A	T	19: 39,324,995	M351L	probably benign	Het
Cyp4f15	T	A	17: 32,692,580	D145E	probably benign	Het
Defb48	T	C	14: 62,984,457	Y4C	unknown	Het
Dnaaf3	T	C	7: 4,526,904	Q292R	probably benign	Het
Dnah11	T	C	12: 118,127,608	M930V	possibly damaging	Het
Dnaja2	A	T	8: 85,553,400	I50K	probably damaging	Het
Dnm2	A	G	9: 21,474,629	N316S	probably damaging	Het
Dusp12	A	G	1: 170,880,606	Y181H	possibly damaging	Het
Efemp1	T	G	11: 28,921,795	F437V	possibly damaging	Het
Eps8l3	T	A	3: 107,891,009	V464D	probably damaging	Het
Fat2	A	T	11: 55,285,060	L1609Q	probably benign	Het
Fbxw24	C	T	9: 109,624,842	V79I	probably benign	Het
Fgl2	A	T	5: 21,375,920	Q420L	probably benign	Het
Filip1	T	C	9: 79,820,114	K408E	probably benign	Het
Fkbp9	A	C	6: 56,875,707	I471L	probably benign	Het
Fndc1	A	T	17: 7,753,706	S1465T	probably damaging	Het
Fry	A	T	5: 150,399,533	T1050S	probably benign	Het
Gm12258	G	A	11: 58,859,030	V344I	probably benign	Het
Gm5434	T	A	12: 36,090,730		probably benign	Het
Gtf3c1	A	G	7: 125,663,540	V1049A	probably damaging	Het
Itih5	G	A	2: 10,240,581	V494I	probably benign	Het
Krt75	A	T	15: 101,568,072	D419E	probably benign	Het
Lama1	T	C	17: 67,809,271	S2378P	probably damaging	Het
Lcorl	T	A	5: 45,747,281		probably null	Het
Man2a1	A	T	17: 64,659,009	H314L	probably damaging	Het
Mthfd1l	T	A	10: 4,007,840	H292Q	possibly damaging	Het
Ocm	A	T	5: 144,023,868	M87K	possibly damaging	Het
Olfr1193	A	T	2: 88,678,022	S56C	probably benign	Het
Olfr1451	T	C	19: 12,999,169	L61P	probably damaging	Het
Olfr482	A	C	7: 108,095,459	I37S	probably damaging	Het
Olfr677	A	C	7: 105,056,656	I137L	probably benign	Het
Olfr891	C	A	9: 38,180,250	S191I	probably damaging	Het
Olfr951	A	G	9: 39,394,636	T282A	probably benign	Het
Oplah	A	G	15: 76,302,768	Y616H	probably damaging	Het
Pde3a	G	A	6: 141,459,086	V346M	probably damaging	Het
Pdlim1	T	A	19: 40,243,448	E162V	possibly damaging	Het
Pdzd2	C	G	15: 12,374,595	S1818T	probably benign	Het
Phf24	G	A	4: 42,933,731	G38S	probably damaging	Het
Plekhg1	T	C	10: 3,957,186	V701A	probably benign	Het
Ppard	C	G	17: 28,286,374	R12G	unknown	Het
Ptprz1	A	G	6: 23,001,546	S1212G	probably benign	Het
Rab3il1	C	A	19: 10,027,444	Q110K	possibly damaging	Het
Rin3	A	T	12: 102,361,383		probably benign	Het
Rps6kb2	T	A	19: 4,158,678	K280*	probably null	Het
Slc27a6	G	T	18: 58,572,033	L162F	possibly damaging	Het
Slc6a19	T	A	13: 73,684,042	I472F	possibly damaging	Het
Spatc1l	G	A	10: 76,569,372	R196Q	probably damaging	Het
Srp72	T	C	5: 76,984,384	I273T	probably damaging	Het
St8sia1	C	A	6: 142,867,923	S171I	probably benign	Het
Tas2r136	T	C	6: 132,777,492	H224R	probably damaging	Het
Tas2r140	A	G	6: 133,055,780	V5A	possibly damaging	Het
Tbce	C	T	13: 14,019,861	R71H	probably damaging	Het
Tdrd9	A	T	12: 111,996,835	K115*	probably null	Het
Thada	T	A	17: 84,272,817	H1403L	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,160,854		probably null	Het
Timm44	A	G	8: 4,267,932	S159P	probably damaging	Het
Tlk2	T	A	11: 105,281,100	C699S	probably damaging	Het
Tmem178b	A	G	6: 40,004,226	K65R	probably damaging	Het
Ttc28	T	C	5: 111,277,463	V1718A	possibly damaging	Het
Ttc6	T	G	12: 57,728,505	C1662W	probably damaging	Het
Unc13a	C	A	8: 71,662,850		probably null	Het
Vip	A	T	10: 5,644,099	I151F	probably damaging	Het
Vps16	C	T	2: 130,438,110	P85L	probably benign	Het
Wdsub1	T	C	2: 59,870,399		probably benign	Het
Zc3h12c	T	C	9: 52,116,553	D503G	probably damaging	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
R5097:Ireb2	UTSW	9	54895384	missense	probably benign	0.04
R5159:Ireb2	UTSW	9	54892547	missense	probably benign
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
RF006:Ireb2	UTSW	9	54881484	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGTGATGACAAGAGGCACATTTG -3'
(R):5'- GAGGTTTAACCAAATTCAGAGTAGC -3'

Sequencing Primer
(F):5'- TTTCCATCGGGACAAACG -3'
(R):5'- ACTTTGATACGATGTTACTGACAAC -3'

Posted On

2016-02-04