Incidental Mutation 'IGL01635:Ighmbp2'
ID 92966
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 # IGL01635
Quality Score
Status
Chromosome 19
Chromosomal Location 3309076-3333011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3317265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 536 (V536I)
Ref Sequence ENSEMBL: ENSMUSP00000113438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025751] [ENSMUST00000119292] [ENSMUST00000154537]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000025751
AA Change: V536I

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: V536I

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 possibly damaging
Transcript: ENSMUST00000119292
AA Change: V536I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: V536I

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: ENSMUST00000143079
Predicted Effect probably benign
Transcript: ENSMUST00000154537
SMART Domains Protein: ENSMUSP00000122827
Gene: ENSMUSG00000024831

DomainStartEndE-ValueType
PDB:4B3F|X 3 160 2e-80 PDB
low complexity region 230 244 N/A INTRINSIC
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,431,910 (GRCm39) I396V probably benign Het
Bag2 T A 1: 33,786,013 (GRCm39) N103I possibly damaging Het
Cfap95 T C 19: 23,536,379 (GRCm39) Y176C probably damaging Het
Chd1 T C 17: 17,598,858 (GRCm39) S107P probably damaging Het
Chd3 A T 11: 69,252,076 (GRCm39) probably benign Het
Cytip T C 2: 58,038,243 (GRCm39) E106G probably damaging Het
Dcp1b T A 6: 119,183,498 (GRCm39) I195N probably damaging Het
Ddhd1 C A 14: 45,867,037 (GRCm39) V322F probably null Het
Esrrg A T 1: 187,930,797 (GRCm39) D296V probably damaging Het
F5 A G 1: 164,035,427 (GRCm39) K1867R probably benign Het
Gm10717 C A 9: 3,025,511 (GRCm39) A32D probably damaging Het
Gm10717 C A 9: 3,025,506 (GRCm39) F30L possibly damaging Het
Gstt1 G T 10: 75,629,951 (GRCm39) T54K probably damaging Het
Mphosph8 A T 14: 56,910,003 (GRCm39) R119W probably damaging Het
Negr1 A G 3: 156,267,929 (GRCm39) D33G probably benign Het
Or2l13b A G 16: 19,348,845 (GRCm39) V275A probably benign Het
Or7d10 A T 9: 19,831,780 (GRCm39) I92L probably damaging Het
Plbd2 T C 5: 120,637,114 (GRCm39) D116G probably damaging Het
Pold1 A T 7: 44,185,401 (GRCm39) V733E probably damaging Het
Prorsd1 T A 11: 29,463,467 (GRCm39) K98N probably benign Het
Rasal2 G T 1: 156,991,394 (GRCm39) L611I probably damaging Het
Rffl G A 11: 82,703,378 (GRCm39) R147C probably benign Het
Rpl27rt A T 18: 34,870,795 (GRCm39) M110L probably benign Het
Sdad1 A G 5: 92,445,019 (GRCm39) M315T probably damaging Het
Shprh T A 10: 11,045,763 (GRCm39) Y861* probably null Het
Six4 G A 12: 73,155,971 (GRCm39) A324V probably benign Het
Stab2 T C 10: 86,816,992 (GRCm39) D135G probably benign Het
Tada3 T C 6: 113,352,973 (GRCm39) H12R probably benign Het
Zap70 A G 1: 36,810,238 (GRCm39) D116G probably damaging 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
IGL01557:Ighmbp2 APN 19 3,331,472 (GRCm39) missense probably benign 0.13
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