Mutagenetix > Incidental Mutation

Incidental Mutation 'R6127:Ireb2'

487454

Institutional Source

Beutler Lab

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

D9Ertd85e, Irp2

MMRRC Submission

044274-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54863789-54912530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54882368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 109 (T109A)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

AlphaFold

Q811J3

Predicted Effect

probably benign
Transcript: ENSMUST00000034843
AA Change: T109A

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

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: T109A

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

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (49/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	A	G	2: 154,549,589	E92G	probably damaging	Het
4931429L15Rik	T	A	9: 46,308,922	D104V	probably damaging	Het
Actl9	T	C	17: 33,433,380	V138A	probably benign	Het
Agl	T	A	3: 116,758,329	I1204F	probably damaging	Het
Akna	G	T	4: 63,368,119	T1381N	possibly damaging	Het
Atm	A	C	9: 53,524,509	L167W	probably damaging	Het
Atp2b2	C	T	6: 113,813,877	E189K	probably damaging	Het
Bend7	A	G	2: 4,763,277	D348G	probably damaging	Het
Cactin	G	A	10: 81,324,309	R412H	possibly damaging	Het
Carmil1	T	C	13: 24,036,352	T726A	probably benign	Het
Csmd3	T	A	15: 47,650,228	I2829F	probably damaging	Het
Ddx50	A	T	10: 62,621,563		probably null	Het
Epha5	T	G	5: 84,071,094	K937N	probably damaging	Het
Fblim1	G	A	4: 141,584,722	R231C	probably damaging	Het
Fuca1	T	A	4: 135,934,811	I350N	probably damaging	Het
Hagh	G	T	17: 24,861,004	M152I	probably damaging	Het
Hexdc	T	C	11: 121,216,999	V185A	possibly damaging	Het
Kcnh2	A	G	5: 24,325,003	Y702H	probably damaging	Het
Leng1	G	A	7: 3,662,867	P157L	probably damaging	Het
Maea	C	T	5: 33,335,518		probably benign	Het
Mertk	G	T	2: 128,738,291	V222F	probably damaging	Het
Mroh2a	T	C	1: 88,234,612		probably null	Het
Muc13	G	A	16: 33,798,947	A22T	unknown	Het
Muc16	T	A	9: 18,657,878	H1115L	unknown	Het
Olfr1156	T	A	2: 87,949,361	S291C	probably damaging	Het
Olfr1389	C	A	11: 49,430,806	T110K	probably damaging	Het
Olfr291	T	A	7: 84,857,202	L278M	probably damaging	Het
Olfr816	A	G	10: 129,911,415	Y288H	probably damaging	Het
Pak7	G	A	2: 136,087,406	P619L	probably damaging	Het
Pcdh17	A	G	14: 84,533,060	K993E	probably damaging	Het
Pcdhga3	A	T	18: 37,674,704	Q70L	probably damaging	Het
Pcdhgb5	C	A	18: 37,732,879	R576S	probably damaging	Het
Pold1	T	C	7: 44,542,121	Y147C	probably damaging	Het
Prag1	T	C	8: 36,147,401	L1369P	unknown	Het
Psg29	T	A	7: 17,211,746	F414I	probably benign	Het
Robo1	A	T	16: 73,013,068	M1235L	probably benign	Het
Rp1	C	A	1: 4,349,311	S526I	possibly damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Setd7	G	A	3: 51,530,081	T251I	probably damaging	Het
Slc25a41	T	A	17: 57,034,914	Y145F	probably damaging	Het
Stag1	T	C	9: 100,951,697	V1121A	probably benign	Het
Svip	T	C	7: 52,003,453	T38A	probably benign	Het
Tacc2	A	T	7: 130,626,115	H1510L	possibly damaging	Het
Trav19	A	G	14: 53,845,542	T25A	probably benign	Het
Trip4	A	T	9: 65,866,470		probably null	Het
Tulp1	T	A	17: 28,356,150	H447L	probably benign	Het
Vmn1r200	A	T	13: 22,395,203	T59S	probably benign	Het
Vmn2r51	A	T	7: 10,105,631	L10H	probably damaging	Het
Wee2	T	C	6: 40,449,767	Y157H	probably damaging	Het
Xrn1	T	C	9: 95,969,489	S187P	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	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
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
R5767:Ireb2	UTSW	9	54900516	missense	probably benign
R6005:Ireb2	UTSW	9	54908805	missense	probably damaging	1.00
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'- TACTCCTGAGCACTGAAGTTCTC -3'
(R):5'- GCCAGAACTGCTATTCCCTAC -3'

Sequencing Primer
(F):5'- ATTCTTACTAGACTGGGGATACATC -3'
(R):5'- AGAACTGCTATTCCCTACCTCCAC -3'

Posted On

2017-10-10