Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Ireb2'

489525

Institutional Source

Beutler Lab

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

Irp2, D9Ertd85e

MMRRC Submission

044302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54771073-54819814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54793811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 247 (P247Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

AlphaFold

Q811J3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034843
AA Change: P247Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: P247Q

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 105,111,510 (GRCm39)	Y319C	probably benign	Het
Actn4	A	C	7: 28,595,566 (GRCm39)	I763S	probably damaging	Het
Actr8	G	A	14: 29,700,546 (GRCm39)		probably null	Het
Adrb1	T	C	19: 56,711,336 (GRCm39)	L178P	probably damaging	Het
Afap1	A	G	5: 36,092,953 (GRCm39)	Y19C	unknown	Het
Ankrd36	A	G	11: 5,637,442 (GRCm39)	E1337G	probably benign	Het
Arl4a	A	C	12: 40,086,519 (GRCm39)	V76G	probably damaging	Het
Bmp1	A	T	14: 70,745,447 (GRCm39)	I246K	probably damaging	Het
Camk4	A	T	18: 33,072,500 (GRCm39)	T18S	unknown	Het
Cep152	T	C	2: 125,423,620 (GRCm39)	H927R	probably benign	Het
Clca3a2	A	G	3: 144,525,118 (GRCm39)	I38T	probably damaging	Het
Clec2g	A	C	6: 128,957,236 (GRCm39)	T54P	probably damaging	Het
Cox20	A	G	1: 178,149,362 (GRCm39)	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Csmd1	T	C	8: 15,953,231 (GRCm39)	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,915,170 (GRCm39)	H700Q	probably null	Het
Dnah10	G	A	5: 124,847,663 (GRCm39)	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,862,239 (GRCm39)	T2165A	probably damaging	Het
Dock2	C	G	11: 34,244,123 (GRCm39)	M1072I	probably benign	Het
F11	T	A	8: 45,705,119 (GRCm39)	T141S	probably damaging	Het
Gabra6	T	A	11: 42,207,350 (GRCm39)	I245F	probably damaging	Het
H2-T5	G	A	17: 36,478,399 (GRCm39)	A211V	possibly damaging	Het
Herc1	T	A	9: 66,340,705 (GRCm39)	C1685S	possibly damaging	Het
Iftap	A	T	2: 101,406,355 (GRCm39)		probably null	Het
Il20	G	T	1: 130,838,477 (GRCm39)	D73E	probably damaging	Het
Kcng3	T	C	17: 83,895,807 (GRCm39)	I220V	probably benign	Het
Lce1j	T	G	3: 92,696,379 (GRCm39)	Q133P	unknown	Het
Lgals9	C	T	11: 78,854,331 (GRCm39)	A287T	probably benign	Het
Lrrc52	A	G	1: 167,294,296 (GRCm39)		probably benign	Het
Map3k5	A	T	10: 19,994,187 (GRCm39)	H1027L	probably benign	Het
Morc3	A	G	16: 93,659,313 (GRCm39)	D407G	possibly damaging	Het
Myom1	T	C	17: 71,415,690 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,401,631 (GRCm39)	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,249,368 (GRCm39)	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,588,395 (GRCm39)	F298I	probably damaging	Het
Npas2	G	A	1: 39,326,557 (GRCm39)	R14Q	probably damaging	Het
Npas4	C	T	19: 5,036,898 (GRCm39)	C422Y	probably damaging	Het
Or11h4	T	C	14: 50,974,076 (GRCm39)	D181G	probably benign	Het
Or2y11	T	A	11: 49,443,411 (GRCm39)	I279N	possibly damaging	Het
Or4c123	A	G	2: 89,126,765 (GRCm39)	L283S	probably damaging	Het
Or5p4	T	C	7: 107,680,493 (GRCm39)	V164A	probably benign	Het
Pcdhga4	T	C	18: 37,819,546 (GRCm39)	I365T	probably damaging	Het
Pear1	T	A	3: 87,666,875 (GRCm39)	T37S	probably damaging	Het
Pkn2	A	T	3: 142,559,454 (GRCm39)	F24I	probably benign	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,718,565 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,712 (GRCm39)	H337L	probably benign	Het
Psmb3	T	A	11: 97,603,278 (GRCm39)	F164I	probably damaging	Het
Ptch2	T	A	4: 116,954,105 (GRCm39)	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Pusl1	A	G	4: 155,975,005 (GRCm39)	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Rictor	T	C	15: 6,823,458 (GRCm39)	L1545P	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,456,107 (GRCm39)		probably null	Het
Slc35b3	A	T	13: 39,128,572 (GRCm39)	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,387,136 (GRCm39)	V207A	possibly damaging	Het
Sox13	A	G	1: 133,321,005 (GRCm39)	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,087,403 (GRCm39)	L999R	probably damaging	Het
Taf4	A	G	2: 179,555,317 (GRCm39)	V1015A	probably damaging	Het
Top3b	T	C	16: 16,709,373 (GRCm39)	L687P	probably damaging	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Ttc6	T	C	12: 57,784,402 (GRCm39)	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,858,069 (GRCm39)	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,078,114 (GRCm39)	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,286,143 (GRCm39)	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,106,495 (GRCm39)		probably null	Het
Zzz3	A	G	3: 152,133,319 (GRCm39)	I126V	possibly damaging	Het

Other mutations in Ireb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Ireb2	APN	9	54,806,766 (GRCm39)	splice site	probably benign
IGL01576:Ireb2	APN	9	54,799,794 (GRCm39)	missense	probably damaging	1.00
IGL01844:Ireb2	APN	9	54,772,641 (GRCm39)	missense	probably benign	0.01
bonkers	UTSW	9	54,803,779 (GRCm39)	missense	probably benign	0.00
homicidal	UTSW	9	54,793,851 (GRCm39)	nonsense	probably null
remorseless	UTSW	9	54,789,617 (GRCm39)	missense	possibly damaging	0.83
tony_stark	UTSW	9	54,811,245 (GRCm39)	missense	probably damaging	1.00
R0143:Ireb2	UTSW	9	54,793,193 (GRCm39)	missense	probably benign	0.06
R0279:Ireb2	UTSW	9	54,793,877 (GRCm39)	missense	probably benign
R0400:Ireb2	UTSW	9	54,803,782 (GRCm39)	missense	probably benign
R0565:Ireb2	UTSW	9	54,807,267 (GRCm39)	missense	probably damaging	1.00
R0686:Ireb2	UTSW	9	54,811,460 (GRCm39)	missense	probably benign	0.44
R0706:Ireb2	UTSW	9	54,799,770 (GRCm39)	missense	probably benign
R0894:Ireb2	UTSW	9	54,803,861 (GRCm39)	missense	probably damaging	1.00
R1101:Ireb2	UTSW	9	54,816,986 (GRCm39)	missense	probably benign	0.35
R1680:Ireb2	UTSW	9	54,788,802 (GRCm39)	missense	probably damaging	1.00
R2074:Ireb2	UTSW	9	54,788,733 (GRCm39)	missense	probably benign
R2080:Ireb2	UTSW	9	54,803,836 (GRCm39)	missense	possibly damaging	0.85
R2891:Ireb2	UTSW	9	54,807,274 (GRCm39)	missense	probably benign	0.01
R3153:Ireb2	UTSW	9	54,793,230 (GRCm39)	critical splice donor site	probably null
R3154:Ireb2	UTSW	9	54,793,230 (GRCm39)	critical splice donor site	probably null
R3844:Ireb2	UTSW	9	54,799,789 (GRCm39)	missense	probably damaging	0.99
R4128:Ireb2	UTSW	9	54,788,716 (GRCm39)	missense	probably benign	0.32
R4803:Ireb2	UTSW	9	54,814,098 (GRCm39)	missense	probably benign	0.01
R5097:Ireb2	UTSW	9	54,802,668 (GRCm39)	missense	probably benign	0.04
R5159:Ireb2	UTSW	9	54,799,831 (GRCm39)	missense	probably benign
R5227:Ireb2	UTSW	9	54,803,885 (GRCm39)	critical splice donor site	probably null
R5767:Ireb2	UTSW	9	54,807,800 (GRCm39)	missense	probably benign
R6005:Ireb2	UTSW	9	54,816,089 (GRCm39)	missense	probably damaging	1.00
R6127:Ireb2	UTSW	9	54,789,652 (GRCm39)	missense	probably benign
R6170:Ireb2	UTSW	9	54,794,656 (GRCm39)	missense	probably benign	0.00
R6341:Ireb2	UTSW	9	54,816,064 (GRCm39)	missense	probably damaging	0.99
R6707:Ireb2	UTSW	9	54,811,245 (GRCm39)	missense	probably damaging	1.00
R6973:Ireb2	UTSW	9	54,789,671 (GRCm39)	missense	probably benign	0.00
R7108:Ireb2	UTSW	9	54,813,925 (GRCm39)	missense	probably damaging	1.00
R7126:Ireb2	UTSW	9	54,793,851 (GRCm39)	nonsense	probably null
R7314:Ireb2	UTSW	9	54,799,794 (GRCm39)	missense	probably damaging	1.00
R7396:Ireb2	UTSW	9	54,789,617 (GRCm39)	missense	possibly damaging	0.83
R7472:Ireb2	UTSW	9	54,791,338 (GRCm39)	missense	probably benign	0.11
R7590:Ireb2	UTSW	9	54,803,779 (GRCm39)	missense	probably benign	0.00
R7842:Ireb2	UTSW	9	54,816,970 (GRCm39)	missense	probably benign	0.01
R7894:Ireb2	UTSW	9	54,789,620 (GRCm39)	missense	probably damaging	1.00
R8443:Ireb2	UTSW	9	54,811,265 (GRCm39)	missense	possibly damaging	0.94
R8902:Ireb2	UTSW	9	54,799,786 (GRCm39)	missense	probably benign	0.03
R9323:Ireb2	UTSW	9	54,811,523 (GRCm39)	critical splice donor site	probably null
R9505:Ireb2	UTSW	9	54,813,921 (GRCm39)	missense	probably damaging	1.00
R9643:Ireb2	UTSW	9	54,789,730 (GRCm39)	missense	possibly damaging	0.69
RF006:Ireb2	UTSW	9	54,788,768 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GCATAGGCTCAATATCTGCACTTTTAG -3'
(R):5'- AAGGCTCTCTGTCCCTTGATTATG -3'

Sequencing Primer
(F):5'- GAGCAGTTGGCTAACGTT -3'
(R):5'- CTCTGTCCCTTGATTATGTTTTTGG -3'

Posted On

2017-10-10