Incidental Mutation 'IGL01557:Ighmbp2'
ID 90753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighmbp2
Ensembl Gene ENSMUSG00000024831
Gene Name immunoglobulin mu DNA binding protein 2
Synonyms Catf1, RIPE3b1, Smbp-2, Smbp2, p110 subunit, Smubp2, AEP, sma
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01557
Quality Score
Status
Chromosome 19
Chromosomal Location 3309076-3333011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3331472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 68 (E68G)
Ref Sequence ENSEMBL: ENSMUSP00000122827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025743] [ENSMUST00000025745] [ENSMUST00000025751] [ENSMUST00000119292] [ENSMUST00000141610] [ENSMUST00000154537]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025743
SMART Domains Protein: ENSMUSP00000025743
Gene: ENSMUSG00000024829

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Ribosomal_L21p 99 197 7.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025745
SMART Domains Protein: ENSMUSP00000025745
Gene: ENSMUSG00000024829

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Ribosomal_L21p 99 192 6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025751
AA Change: E68G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: E68G

DomainStartEndE-ValueType
DEXDc 187 446 8.99e-6 SMART
AAA 205 374 9.08e-6 SMART
low complexity region 598 609 N/A INTRINSIC
R3H 704 783 1.2e-22 SMART
low complexity region 784 813 N/A INTRINSIC
low complexity region 858 869 N/A INTRINSIC
ZnF_AN1 895 935 5.65e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119292
AA Change: E68G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: E68G

DomainStartEndE-ValueType
DEXDc 187 446 8.99e-6 SMART
AAA 205 374 9.08e-6 SMART
low complexity region 598 609 N/A INTRINSIC
R3H 704 783 1.2e-22 SMART
low complexity region 784 813 N/A INTRINSIC
low complexity region 858 869 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139844
Predicted Effect probably benign
Transcript: ENSMUST00000141610
SMART Domains Protein: ENSMUSP00000120330
Gene: ENSMUSG00000024829

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
PDB:4CE4|V 14 53 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000154537
AA Change: E68G

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122827
Gene: ENSMUSG00000024831
AA Change: E68G

DomainStartEndE-ValueType
PDB:4B3F|X 3 160 2e-80 PDB
low complexity region 230 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155870
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit premature death, progressive limb muscle atrophy, decreased grip strength, severe motor neuron and axonal degeneration, dilated cardiomyopathy, myocardial fiber necrosis, increased heart rate variability, systolic dysfunction and respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,101,792 (GRCm39) probably null Het
Arl9 T G 5: 77,151,948 (GRCm39) probably null Het
Ces3a C A 8: 105,784,383 (GRCm39) T439K probably damaging Het
Cyp3a25 A G 5: 145,921,711 (GRCm39) W408R probably damaging Het
Defb22 T G 2: 152,327,999 (GRCm39) D62A possibly damaging Het
Dnah17 C T 11: 117,964,512 (GRCm39) R2422Q probably damaging Het
Ehd3 A G 17: 74,112,275 (GRCm39) K13R probably benign Het
Fndc1 T C 17: 7,975,221 (GRCm39) E1406G probably damaging Het
Gak A C 5: 108,732,203 (GRCm39) Y762D probably damaging Het
Igf2r A G 17: 12,923,522 (GRCm39) S1187P possibly damaging Het
Itpr2 T C 6: 146,060,474 (GRCm39) T2448A probably damaging Het
Lrrk2 T G 15: 91,584,192 (GRCm39) C317W probably damaging Het
Morc1 T A 16: 48,319,129 (GRCm39) S278T probably damaging Het
Mrps9 T C 1: 42,890,510 (GRCm39) V20A probably benign Het
Nutm1 A T 2: 112,082,163 (GRCm39) N304K probably benign Het
Or14j8 G A 17: 38,263,742 (GRCm39) P58S probably damaging Het
Pcdhb9 T C 18: 37,536,100 (GRCm39) V698A probably damaging Het
Pitrm1 C A 13: 6,602,720 (GRCm39) D70E probably benign Het
Pkhd1 T C 1: 20,187,203 (GRCm39) T3702A possibly damaging Het
Ppm1h A T 10: 122,618,086 (GRCm39) probably null Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Ptpn5 T C 7: 46,731,636 (GRCm39) Y411C probably damaging Het
Spon2 G A 5: 33,374,047 (GRCm39) A112V probably damaging Het
Zfp648 T A 1: 154,080,426 (GRCm39) V195D probably benign Het
Other mutations in Ighmbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Ighmbp2 APN 19 3,318,704 (GRCm39) missense probably benign 0.02
IGL01160:Ighmbp2 APN 19 3,326,750 (GRCm39) splice site probably benign
IGL01358:Ighmbp2 APN 19 3,318,817 (GRCm39) missense probably damaging 1.00
IGL01478:Ighmbp2 APN 19 3,324,531 (GRCm39) missense probably benign 0.04
IGL01509:Ighmbp2 APN 19 3,318,711 (GRCm39) missense possibly damaging 0.90
IGL01635:Ighmbp2 APN 19 3,317,265 (GRCm39) missense possibly damaging 0.94
IGL01712:Ighmbp2 APN 19 3,323,038 (GRCm39) splice site probably benign
IGL01949:Ighmbp2 APN 19 3,315,538 (GRCm39) missense probably benign 0.01
IGL03106:Ighmbp2 APN 19 3,323,022 (GRCm39) missense possibly damaging 0.87
IGL03212:Ighmbp2 APN 19 3,329,942 (GRCm39) missense probably damaging 1.00
R0038:Ighmbp2 UTSW 19 3,312,097 (GRCm39) missense probably damaging 0.96
R0455:Ighmbp2 UTSW 19 3,315,072 (GRCm39) missense probably benign 0.34
R1661:Ighmbp2 UTSW 19 3,317,246 (GRCm39) missense probably damaging 1.00
R1756:Ighmbp2 UTSW 19 3,318,669 (GRCm39) missense probably damaging 0.99
R1851:Ighmbp2 UTSW 19 3,312,075 (GRCm39) missense probably benign 0.12
R2055:Ighmbp2 UTSW 19 3,315,095 (GRCm39) missense probably benign 0.00
R2194:Ighmbp2 UTSW 19 3,315,116 (GRCm39) missense probably benign 0.00
R3838:Ighmbp2 UTSW 19 3,321,658 (GRCm39) missense probably benign 0.01
R4409:Ighmbp2 UTSW 19 3,321,536 (GRCm39) missense probably benign
R4583:Ighmbp2 UTSW 19 3,315,324 (GRCm39) missense probably benign 0.01
R4806:Ighmbp2 UTSW 19 3,311,589 (GRCm39) missense probably damaging 1.00
R5091:Ighmbp2 UTSW 19 3,315,084 (GRCm39) missense possibly damaging 0.55
R5274:Ighmbp2 UTSW 19 3,315,518 (GRCm39) missense probably damaging 1.00
R5319:Ighmbp2 UTSW 19 3,321,646 (GRCm39) missense probably damaging 0.99
R5500:Ighmbp2 UTSW 19 3,318,687 (GRCm39) missense possibly damaging 0.69
R5574:Ighmbp2 UTSW 19 3,321,536 (GRCm39) missense probably benign
R5698:Ighmbp2 UTSW 19 3,324,538 (GRCm39) missense probably damaging 1.00
R5722:Ighmbp2 UTSW 19 3,329,909 (GRCm39) missense probably damaging 1.00
R5864:Ighmbp2 UTSW 19 3,311,467 (GRCm39) missense probably benign 0.00
R5980:Ighmbp2 UTSW 19 3,315,295 (GRCm39) missense probably benign
R6194:Ighmbp2 UTSW 19 3,312,003 (GRCm39) missense possibly damaging 0.90
R6939:Ighmbp2 UTSW 19 3,326,907 (GRCm39) missense probably damaging 0.97
R7051:Ighmbp2 UTSW 19 3,311,462 (GRCm39) missense probably damaging 0.98
R7147:Ighmbp2 UTSW 19 3,321,676 (GRCm39) missense probably benign 0.05
R7257:Ighmbp2 UTSW 19 3,316,405 (GRCm39) missense probably damaging 1.00
R7274:Ighmbp2 UTSW 19 3,314,951 (GRCm39) missense probably benign
R7567:Ighmbp2 UTSW 19 3,322,981 (GRCm39) missense probably benign 0.01
R7737:Ighmbp2 UTSW 19 3,324,467 (GRCm39) missense unknown
R7819:Ighmbp2 UTSW 19 3,317,276 (GRCm39) missense possibly damaging 0.46
R7877:Ighmbp2 UTSW 19 3,311,490 (GRCm39) missense probably damaging 1.00
R8175:Ighmbp2 UTSW 19 3,316,365 (GRCm39) missense possibly damaging 0.47
R8417:Ighmbp2 UTSW 19 3,311,590 (GRCm39) missense probably damaging 1.00
R8951:Ighmbp2 UTSW 19 3,318,726 (GRCm39) nonsense probably null
R9171:Ighmbp2 UTSW 19 3,315,641 (GRCm39) missense possibly damaging 0.95
R9409:Ighmbp2 UTSW 19 3,318,832 (GRCm39) missense possibly damaging 0.47
R9567:Ighmbp2 UTSW 19 3,332,785 (GRCm39) start codon destroyed probably null 0.99
R9663:Ighmbp2 UTSW 19 3,315,325 (GRCm39) missense probably benign 0.27
R9752:Ighmbp2 UTSW 19 3,324,360 (GRCm39) missense probably benign 0.00
Z1177:Ighmbp2 UTSW 19 3,321,665 (GRCm39) nonsense probably null
Z1177:Ighmbp2 UTSW 19 3,317,242 (GRCm39) missense probably null 1.00
Z1177:Ighmbp2 UTSW 19 3,315,635 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09