Incidental Mutation 'IGL01160:Ighmbp2'
ID 54085
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 # IGL01160
Quality Score
Status
Chromosome 19
Chromosomal Location 3309076-3333011 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 3326750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025751] [ENSMUST00000119292] [ENSMUST00000154537]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025751
SMART Domains Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831

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
SMART Domains Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831

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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a A G 8: 12,894,609 (GRCm39) T188A probably damaging Het
Bfsp2 A G 9: 103,357,367 (GRCm39) V20A probably benign Het
Btn1a1 G A 13: 23,645,907 (GRCm39) T154M possibly damaging Het
Ccdc117 T C 11: 5,481,532 (GRCm39) S200G probably benign Het
Col24a1 G A 3: 145,213,468 (GRCm39) G1358S probably damaging Het
Crlf2 T C 5: 109,705,436 (GRCm39) T40A possibly damaging Het
Cstf2 T A X: 132,961,478 (GRCm39) probably benign Het
Dcdc2a A G 13: 25,303,312 (GRCm39) D281G probably benign Het
Dmd T C X: 82,968,567 (GRCm39) L1855P probably damaging Het
Dnajc5g T C 5: 31,267,529 (GRCm39) V112A probably benign Het
Dnmt1 G A 9: 20,828,615 (GRCm39) P828S possibly damaging Het
Dock3 A T 9: 106,783,887 (GRCm39) S268R probably damaging Het
Dpep2 C T 8: 106,713,076 (GRCm39) V440M possibly damaging Het
F8 A T X: 74,331,667 (GRCm39) M741K probably damaging Het
Fermt3 C T 19: 6,980,626 (GRCm39) probably null Het
Fosb A G 7: 19,041,039 (GRCm39) probably null Het
Gm3238 C A 10: 77,606,717 (GRCm39) probably benign Het
Hyal5 T A 6: 24,876,480 (GRCm39) S118T possibly damaging Het
Igf2r T C 17: 12,923,662 (GRCm39) D1140G possibly damaging Het
Irf3 C A 7: 44,648,220 (GRCm39) D28E possibly damaging Het
Ly6i A T 15: 74,851,881 (GRCm39) I96N possibly damaging Het
Macrod2 T C 2: 140,666,962 (GRCm39) probably benign Het
Or2b4 A G 17: 38,116,941 (GRCm39) R302G probably benign Het
Or4c117 A T 2: 88,956,072 (GRCm39) M1K probably null Het
Or4f15 A G 2: 111,814,278 (GRCm39) L47P probably damaging Het
Or52z1 C T 7: 103,436,843 (GRCm39) G214R probably damaging Het
Otof A T 5: 30,538,879 (GRCm39) M1128K probably benign Het
Parp9 A T 16: 35,768,368 (GRCm39) I183F probably damaging Het
Pbsn T C X: 76,886,177 (GRCm39) N147S probably benign Het
Pcf11 A G 7: 92,310,894 (GRCm39) S365P possibly damaging Het
Pcnx4 T G 12: 72,626,151 (GRCm39) V1119G probably damaging Het
Qng1 A G 13: 58,529,790 (GRCm39) V274A probably damaging Het
Rsf1 C T 7: 97,334,791 (GRCm39) T1308M probably damaging Het
Sidt2 A G 9: 45,854,024 (GRCm39) L647P probably damaging Het
Slc28a2b A C 2: 122,355,277 (GRCm39) probably null Het
Slc7a8 A G 14: 54,972,581 (GRCm39) V280A probably benign Het
Spart T A 3: 55,029,177 (GRCm39) F323I probably damaging Het
Supt16 A T 14: 52,420,589 (GRCm39) D70E probably benign Het
Tmc4 T C 7: 3,678,517 (GRCm39) Y38C possibly damaging Het
Tmco5b G T 2: 113,118,143 (GRCm39) probably benign Het
Trav10 G A 14: 53,743,239 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,489,477 (GRCm39) M454K probably damaging Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Yipf7 T C 5: 69,676,660 (GRCm39) I160V probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp429 G A 13: 67,539,132 (GRCm39) S91L probably damaging Het
Other mutations in Ighmbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Ighmbp2 APN 19 3,318,704 (GRCm39) missense probably benign 0.02
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
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 2013-06-28