Mutagenetix > Incidental Mutations

Incidental Mutation 'R7396:Ireb2'

573826

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 #

R7396 (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 54882333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 97 (M97K)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

AlphaFold

Q811J3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034843
AA Change: M97K

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: M97K

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

0.5024

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
Abcb5	A	G	12: 118,867,874	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,213,661	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,773,829	L185H	probably damaging	Het
Actr1a	G	A	19: 46,379,629	T293I	probably benign	Het
Adig	T	C	2: 158,505,916	L50P	unknown	Het
Ankrd28	A	G	14: 31,702,202	S994P	probably benign	Het
Ankrd35	T	A	3: 96,683,497	D366E	probably damaging	Het
Aqr	A	T	2: 114,119,946	Y927*	probably null	Het
Asxl2	T	A	12: 3,442,529	I38N	probably damaging	Het
Atp9b	T	C	18: 80,736,842	I1092V		Het
B4galnt1	A	G	10: 127,171,616	E462G	possibly damaging	Het
BC048671	T	A	6: 90,303,291	V63E	probably damaging	Het
BC067074	T	A	13: 113,318,990	S523R		Het
Bod1l	A	G	5: 41,831,546	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,461,498	I234L	probably benign	Het
Camk2b	A	C	11: 5,978,432	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,143,745		probably null	Het
Ces1b	G	T	8: 93,063,129	N390K	probably benign	Het
Chpf	T	C	1: 75,475,283	Q671R	probably benign	Het
Dbr1	C	A	9: 99,583,390	N340K	probably damaging	Het
Dram1	T	A	10: 88,340,645	T73S	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Efemp1	A	T	11: 28,867,501	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,506,137	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,166,374	N434I	probably benign	Het
Ercc6	C	T	14: 32,569,805	T1042I	probably benign	Het
Etl4	C	T	2: 20,798,638	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,449,023	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,688,886	D344G	probably benign	Het
Fgf15	G	T	7: 144,899,805	V172L	probably benign	Het
Fmod	T	C	1: 134,040,240	V6A	probably benign	Het
Furin	C	A	7: 80,398,114	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207	V297A	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Helb	T	C	10: 120,089,571	D967G	probably benign	Het
Hmcn1	T	C	1: 150,563,631	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,233,419	P70Q	not run	Het
Hsd17b1	T	C	11: 101,079,207	V155A	probably damaging	Het
Kcnj6	C	A	16: 94,762,447	L397F	probably benign	Het
Lcorl	A	T	5: 45,857,459		probably null	Het
Lgi2	A	T	5: 52,538,411	I402N	probably damaging	Het
Lrat	T	A	3: 82,903,283	R144*	probably null	Het
Mfhas1	G	T	8: 35,590,199	L609F	probably damaging	Het
Mink1	T	A	11: 70,605,168	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,808,415	D1821V	unknown	Het
Myh2	T	C	11: 67,194,728		probably null	Het
Ncor1	T	C	11: 62,343,218	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,566,603	V76M	probably damaging	Het
Neurod4	T	C	10: 130,271,022	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,038,987	D59E	probably benign	Het
Olfr1369-ps1	T	C	13: 21,116,307	V205A	probably benign	Het
Olfr531	C	T	7: 140,400,563	R161H	probably benign	Het
Olfr667	C	T	7: 104,916,351	S315N	probably benign	Het
Pcdh15	T	A	10: 74,630,690	V1513D	probably benign	Het
Pclo	C	A	5: 14,539,888	T734K	unknown	Het
Phc2	A	G	4: 128,748,161	R759G	probably benign	Het
Plch1	A	T	3: 63,698,954	N1176K	probably benign	Het
Plec	T	A	15: 76,174,889	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,144,644	T426N	probably benign	Het
Rictor	A	G	15: 6,786,981	T1245A	not run	Het
Rilp	T	C	11: 75,510,886	V164A	probably damaging	Het
Rnf39	A	T	17: 36,947,079	T168S	probably damaging	Het
Rptor	C	G	11: 119,872,355	Q922E	probably benign	Het
Sall1	A	T	8: 89,032,768	L236Q	probably damaging	Het
Skint7	A	G	4: 111,988,127	T379A	probably benign	Het
Spata22	C	A	11: 73,345,876	T336N	probably damaging	Het
Spata31	T	C	13: 64,920,733	S232P	probably benign	Het
Spink5	T	A	18: 43,977,655	C98S	possibly damaging	Het
Stard6	T	C	18: 70,500,435	V171A	possibly damaging	Het
Tex9	A	T	9: 72,480,790		probably null	Het
Traf7	T	C	17: 24,509,545	D621G	probably damaging	Het
Trak1	C	T	9: 121,448,907	T353M	possibly damaging	Het
Trim68	A	T	7: 102,678,362	Y461*	probably null	Het
Usp1	A	G	4: 98,926,451		probably benign	Het
Vmn2r42	T	A	7: 8,192,642	I502F	probably benign	Het
Wbp4	C	A	14: 79,476,821	G84C	probably damaging	Het
Zfp787	A	G	7: 6,132,107	*382Q	probably null	Het
Zfp831	G	T	2: 174,645,209	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,366,089	A140P	probably benign	Het
Zscan4e	T	A	7: 11,307,075	Y290F	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
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
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
RF006:Ireb2	UTSW	9	54881484	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- ACTCCTGAGCACTGAAGTTCTC -3'
(R):5'- GCCAGAACTGCTATTCCCTAC -3'

Sequencing Primer
(F):5'- ACTAGACTGGGGATACATCt -3'
(R):5'- CCACTTCACTACCAGTTAACTAGTG -3'

Posted On

2019-09-13