Incidental Mutation 'R7257:Ighmbp2'
ID 564380
Institutional Source Beutler Lab
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
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 3309076-3333011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3316405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 562 (S562P)
Ref Sequence ENSEMBL: ENSMUSP00000025751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025751] [ENSMUST00000119292] [ENSMUST00000154537]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025751
AA Change: S562P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: S562P

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 damaging
Transcript: ENSMUST00000119292
AA Change: S562P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113438
Gene: ENSMUSG00000024831
AA Change: S562P

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
Meta Mutation Damage Score 0.8906 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
Atxn2 T G 5: 121,923,880 (GRCm39) N734K possibly damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Camk2g T C 14: 20,797,907 (GRCm39) S335G probably benign Het
Cbln2 T A 18: 86,734,859 (GRCm39) W211R probably damaging Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Ddx55 T A 5: 124,698,784 (GRCm39) C249S possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Ect2 A G 3: 27,192,684 (GRCm39) S420P probably damaging Het
Efcab5 T A 11: 77,028,605 (GRCm39) E242V probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Oca2 G A 7: 55,929,286 (GRCm39) probably benign Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Septin3 G A 15: 82,173,414 (GRCm39) A249T probably damaging Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGACTAAGTCTCTTGGGGC -3'
(R):5'- ACAAACCTCAGGGCAGCTTG -3'

Sequencing Primer
(F):5'- TAAGTCTCTTGGGGCCCACC -3'
(R):5'- GCTGCTGCTGTGGTCAC -3'
Posted On 2019-06-26