Mutagenetix > Incidental Mutation

Incidental Mutation 'R5767:Ireb2'

446332

Institutional Source

Beutler Lab

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

D9Ertd85e, Irp2

MMRRC Submission

043367-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5767 (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 54900516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 674 (M674V)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

AlphaFold

Q811J3

Predicted Effect

probably benign
Transcript: ENSMUST00000034843
AA Change: M674V

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

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: M674V

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

unknown
Transcript: ENSMUST00000214023
AA Change: M154V

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (52/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	A	T	10: 89,726,755	D87E	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 36,994,229		probably null	Het
Ano3	A	T	2: 110,661,271	Y887N	probably damaging	Het
Arid4a	A	G	12: 71,060,093	D313G	probably damaging	Het
Armc2	A	G	10: 42,011,927	V20A	probably benign	Het
C2	T	A	17: 34,876,456	N171I	possibly damaging	Het
Cdh1	C	A	8: 106,668,555	N865K	probably damaging	Het
Cep89	T	A	7: 35,417,645	V224E	probably damaging	Het
Dennd2d	C	T	3: 106,487,815		probably benign	Het
Diaph1	T	A	18: 37,853,355	K1157N	probably damaging	Het
Dsg4	T	A	18: 20,462,492	L584*	probably null	Het
Exoc4	G	A	6: 33,918,432	A795T	probably benign	Het
Fbln5	A	T	12: 101,765,209	I242N	probably damaging	Het
Gls2	A	G	10: 128,205,221	H394R	probably damaging	Het
Gm27013	C	T	6: 130,675,958	C847Y	possibly damaging	Het
Ifna5	C	A	4: 88,835,799	T92K	possibly damaging	Het
Itga2	C	T	13: 114,839,570	V1089M	possibly damaging	Het
Kctd16	A	T	18: 40,258,869	Y170F	probably benign	Het
Kif15	A	G	9: 123,013,974	N45D	possibly damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mink1	A	G	11: 70,606,075	K420E	possibly damaging	Het
Ms4a14	G	T	19: 11,302,027	Q1056K	probably benign	Het
Olfr1053	T	A	2: 86,314,398	E296V	probably damaging	Het
Olfr175-ps1	T	C	16: 58,823,953	Y252C	probably benign	Het
Olfr738	T	C	14: 50,413,778	V78A	possibly damaging	Het
Ovch2	T	C	7: 107,781,978	E571G	probably benign	Het
Pmel	T	C	10: 128,714,381	V95A	probably damaging	Het
Ptger2	G	T	14: 44,989,142	G60C	probably benign	Het
Ranbp2	T	G	10: 58,476,825	S1122R	probably benign	Het
Rasal2	T	C	1: 157,176,162	D309G	probably damaging	Het
Rcc2	T	A	4: 140,715,919	C303S	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Serpini1	C	T	3: 75,613,081		probably benign	Het
Sgo2a	G	T	1: 58,019,660	E1133*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smarcc1	G	A	9: 110,132,183		probably benign	Het
Tbcd	A	G	11: 121,592,692	E749G	probably benign	Het
Tmc3	G	A	7: 83,599,982	A260T	probably benign	Het
Tnfrsf21	A	G	17: 43,037,659	Y54C	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,787,199	D312G	possibly damaging	Het
Urb1	T	A	16: 90,776,163	M994L	probably benign	Het
Usp14	A	T	18: 10,009,935		probably benign	Het
Vps13a	T	C	19: 16,664,564	Y2233C	probably damaging	Het
Wdr66	G	A	5: 123,298,521	V1038I	probably benign	Het
Wnt2	G	T	6: 17,990,028	A290E	probably damaging	Het
Zc3h8	A	T	2: 128,930,892	C225*	probably null	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
R5159:Ireb2	UTSW	9	54892547	missense	probably benign
R5227:Ireb2	UTSW	9	54896601	critical splice donor site	probably null
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'- CACACCCCATTGTTAAATCAGTTAC -3'
(R):5'- TGTCATCAAGAACACCTCCG -3'

Sequencing Primer
(F):5'- CAGTTACTTGATTTCTGTGACTTTTC -3'
(R):5'- GCTATGTGAGACCTTGCTT -3'

Posted On

2016-11-21