Mutagenetix > Incidental Mutation

Incidental Mutation 'R7590:Ireb2'

587360

Institutional Source

Beutler Lab

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

D9Ertd85e, Irp2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7590 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54863789-54912530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54896495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 490 (V490D)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

AlphaFold

Q811J3

Predicted Effect

probably benign
Transcript: ENSMUST00000034843
AA Change: V490D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: V490D

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (48/49)

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
Abca8b	T	A	11: 109,938,515	T1373S	probably damaging	Het
Bbox1	A	T	2: 110,268,232	N333K	probably benign	Het
Bcl11b	T	A	12: 108,003,143	M1L	probably benign	Het
C1s2	T	A	6: 124,632,128	I157F	probably damaging	Het
Casp1	T	A	9: 5,306,710	M384K	probably damaging	Het
Chpt1	A	G	10: 88,480,826	S257P	probably damaging	Het
Dennd4a	G	A	9: 64,888,587	G731D	probably benign	Het
Dlk2	A	T	17: 46,298,683	S21C	probably benign	Het
Ell2	T	C	13: 75,770,735	L620P	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fip1l1	T	C	5: 74,591,774	V414A	probably benign	Het
Fmo1	T	A	1: 162,859,682		probably benign	Het
Fyb2	A	G	4: 104,945,246	N115S	probably benign	Het
Gdi2	A	G	13: 3,564,611	T319A	probably benign	Het
Gm10471	G	T	5: 26,085,766	H136N	possibly damaging	Het
Hecw1	A	G	13: 14,264,083	V905A	probably damaging	Het
Lbr	A	G	1: 181,821,511	S348P	probably damaging	Het
Loxhd1	T	A	18: 77,321,634	D191E	possibly damaging	Het
Mlip	A	T	9: 77,230,043	D527E	probably benign	Het
Myom2	A	G	8: 15,117,679	Y1088C	probably damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Nckap5	G	T	1: 126,026,533	Q761K	probably benign	Het
Neb	A	T	2: 52,243,842	D3376E	probably damaging	Het
Nek10	A	G	14: 15,006,693	*1116W	probably null	Het
Olfr224	T	C	11: 58,567,259	I29V	probably benign	Het
Olfr491	A	T	7: 108,317,179	H95L	probably benign	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
Pak2	A	T	16: 32,052,196	I56K	probably benign	Het
Pgm5	T	C	19: 24,709,265	Y526C	probably damaging	Het
Phc2	T	A	4: 128,748,027	L714H	probably damaging	Het
Phf13	A	T	4: 151,991,775	D223E	probably damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882		probably null	Het
Rbm6	A	T	9: 107,791,750		probably null	Het
Scn10a	A	G	9: 119,666,400	M352T	probably damaging	Het
Sh3d19	G	A	3: 86,114,906	V548I	possibly damaging	Het
Slc13a4	T	A	6: 35,279,463	I321F	possibly damaging	Het
Spata9	T	C	13: 75,977,652	S85P	possibly damaging	Het
Ssb	G	A	2: 69,867,290	A122T	probably benign	Het
Ssfa2	G	T	2: 79,658,110	V846F	possibly damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Ten1	T	C	11: 116,205,640	L40P	possibly damaging	Het
Tex10	A	C	4: 48,467,725	V358G	probably damaging	Het
Tmprss11c	A	T	5: 86,239,473	H195Q	probably benign	Het
Tor4a	A	G	2: 25,195,798	V31A	possibly damaging	Het
Trim29	G	A	9: 43,311,491	A206T	probably damaging	Het
Trim71	A	C	9: 114,562,825	V98G	probably benign	Het
Trpm6	C	G	19: 18,832,581	L1114V	probably benign	Het
Usp1	A	G	4: 98,934,252	D601G	possibly damaging	Het
Vmn2r18	T	A	5: 151,561,729	I767F	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
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
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
R9643:Ireb2	UTSW	9	54882446	missense	possibly damaging	0.69
RF006:Ireb2	UTSW	9	54881484	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- ATGAATTGGACCTTCTGAATGGTG -3'
(R):5'- CAGTAATTCTCCCCTTGCACAG -3'

Sequencing Primer
(F):5'- GTGGACCTTATGTGTCACAGTAGAAC -3'
(R):5'- AGTAATTCTCCCCTTGCACAGTATAC -3'

Posted On

2019-10-24