Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Ireb2'

706329

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 #

R9323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54863789-54912530 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 54904239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

AlphaFold

Q811J3

Predicted Effect

probably null
Transcript: ENSMUST00000034843

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	G	17: 23,718,413	S54P	unknown	Het
5430419D17Rik	T	A	7: 131,226,672	N285K	probably damaging	Het
Abat	G	A	16: 8,602,371	W178*	probably null	Het
Alx1	G	A	10: 103,022,263	R192*	probably null	Het
Apom	A	G	17: 35,131,657	C23R	probably damaging	Het
Asap2	A	G	12: 21,112,147	N35S	probably benign	Het
Atf6	A	T	1: 170,855,113	Y43*	probably null	Het
Bag4	T	C	8: 25,771,333	S127G	possibly damaging	Het
Bag4	G	T	8: 25,785,152	S7*	probably null	Het
Ccdc88b	A	G	19: 6,849,107	L1080P	probably damaging	Het
Cdkl2	A	T	5: 92,020,248	D362E	probably benign	Het
Cep170	A	G	1: 176,758,502	S575P	probably benign	Het
Col4a2	C	T	8: 11,443,413	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,904,359	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,374,006	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,307,382	D359G	probably benign	Het
Ddb2	T	C	2: 91,211,992	S419G	possibly damaging	Het
Dmrtc2	A	T	7: 24,872,916	I121F	probably benign	Het
Dus1l	C	T	11: 120,793,898	R149H	probably damaging	Het
Fam214a	C	T	9: 74,976,133		probably benign	Het
Fam35a	A	G	14: 34,259,639	V514A	probably damaging	Het
Fam90a1a	T	A	8: 21,963,624	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,879,428	V46D	probably benign	Het
Grpel1	T	A	5: 36,470,663	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,727,577	N853K	probably damaging	Het
Igkv4-80	C	T	6: 69,016,767	A47T	probably damaging	Het
Il1a	T	A	2: 129,307,906	I25F	probably benign	Het
Itpr1	A	G	6: 108,352,018	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,819,964		probably benign	Het
Lancl1	T	A	1: 67,038,635		probably benign	Het
Lpl	G	A	8: 68,887,544	V64M	possibly damaging	Het
March10	T	C	11: 105,389,755	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685	V546M	probably damaging	Het
Mss51	A	T	14: 20,484,871	I277N	probably benign	Het
Mybpc1	A	G	10: 88,524,967		probably null	Het
Myct1	A	C	10: 5,604,195	I21L	probably benign	Het
Myo5c	C	A	9: 75,246,249	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,321,330	A414G	probably benign	Het
Npy2r	A	T	3: 82,540,421	I349N	possibly damaging	Het
Nrap	T	C	19: 56,389,823	I19V	probably benign	Het
Olfr113	A	C	17: 37,575,244	Y60D	probably damaging	Het
Olfr478	C	T	7: 108,032,023	V107I	probably benign	Het
Olfr659	T	C	7: 104,671,013	F104L	possibly damaging	Het
Olfr803	A	T	10: 129,691,960	V27D	probably benign	Het
Olfr930	T	C	9: 38,930,522	V117A	probably benign	Het
Olfr978	T	C	9: 39,994,064	S85P	possibly damaging	Het
Pde6b	A	T	5: 108,403,432	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,465,031		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,465,038		probably null	Het
Ptpn9	T	C	9: 57,027,417	M155T	possibly damaging	Het
Ret	A	G	6: 118,182,014	Y146H	probably benign	Het
Sdf2l1	T	C	16: 17,131,634	H116R	probably damaging	Het
Slc37a1	T	C	17: 31,333,669	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,686,910	L473R	possibly damaging	Het
Smg7	A	G	1: 152,856,002	M344T	probably benign	Het
Smg9	T	C	7: 24,415,040	L268P	probably damaging	Het
Tiparp	C	T	3: 65,531,851	T196I	probably benign	Het
Trappc12	A	G	12: 28,692,492		probably null	Het
Trappc9	A	T	15: 72,693,582	N953K	probably benign	Het
Trpa1	A	G	1: 14,898,340	V428A	probably benign	Het
Utp20	T	C	10: 88,747,308	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,088,740	E193G	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
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
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'- AGACTCCGTGCTGTTTCCATG -3'
(R):5'- CAGGCTCCATTTGGTGTGTC -3'

Sequencing Primer
(F):5'- GTGAAGTCTACTTACATCAGATGCCC -3'
(R):5'- GCTCCATTTGGTGTGTCAAACTAAG -3'

Posted On

2022-04-18