Incidental Mutation 'R0038:Ighmbp2'
ID 32848
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 038332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0038 (G1)
Quality Score 155
Status Validated (trace)
Chromosome 19
Chromosomal Location 3309076-3333011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3312097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 886 (S886P)
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: S886P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025751
Gene: ENSMUSG00000024831
AA Change: S886P

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 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
Meta Mutation Damage Score 0.0905 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,863,823 (GRCm39) probably benign Het
Ankrd28 A T 14: 31,429,992 (GRCm39) M892K probably damaging Het
Arhgef25 T C 10: 127,022,734 (GRCm39) probably benign Het
Arl9 G A 5: 77,154,322 (GRCm39) E17K probably benign Het
Bbs9 G A 9: 22,415,390 (GRCm39) V105I probably benign Het
Celsr1 A T 15: 85,813,620 (GRCm39) N1997K possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cldn8 A G 16: 88,359,922 (GRCm39) M1T probably null Het
Clec11a A G 7: 43,955,906 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col19a1 A T 1: 24,598,825 (GRCm39) L56Q unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyp2b10 G A 7: 25,614,287 (GRCm39) A254T probably benign Het
Ddx39a T C 8: 84,449,127 (GRCm39) L305P probably damaging Het
Depdc5 A G 5: 33,026,197 (GRCm39) E60G probably benign Het
Eif2ak2 T A 17: 79,171,384 (GRCm39) M340L probably benign Het
Etl4 A T 2: 20,748,385 (GRCm39) H39L probably damaging Het
Fat3 T C 9: 15,826,306 (GRCm39) T4549A probably damaging Het
Fbxw28 A T 9: 109,167,608 (GRCm39) W50R probably damaging Het
Ggt7 T C 2: 155,344,701 (GRCm39) D214G probably benign Het
Gramd1b G A 9: 40,228,822 (GRCm39) T252M probably damaging Het
Grin1 T C 2: 25,187,471 (GRCm39) N613S probably null Het
Hcrtr2 A T 9: 76,166,963 (GRCm39) S125T probably benign Het
Hr T C 14: 70,805,525 (GRCm39) L1091P probably damaging Het
Htr2a T G 14: 74,943,687 (GRCm39) S422R probably benign Het
Iqcg C A 16: 32,866,012 (GRCm39) L110F probably benign Het
Kirrel3 T A 9: 34,823,066 (GRCm39) probably null Het
Kremen1 A C 11: 5,157,703 (GRCm39) probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Lin52 C G 12: 84,576,499 (GRCm39) L111V probably damaging Het
Myh15 T C 16: 48,891,504 (GRCm39) probably benign Het
Ncor1 A G 11: 62,283,377 (GRCm39) F437L probably damaging Het
Nlrp1b A G 11: 71,062,997 (GRCm39) S685P possibly damaging Het
Oog4 T C 4: 143,165,514 (GRCm39) D211G probably benign Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
Pdzd8 A G 19: 59,288,028 (GRCm39) I1124T possibly damaging Het
Pgm3 A T 9: 86,446,726 (GRCm39) probably benign Het
Pnpla5 A G 15: 84,006,714 (GRCm39) Y90H probably damaging Het
Polr1b C T 2: 128,957,588 (GRCm39) R548* probably null Het
Ptprg T A 14: 12,213,710 (GRCm38) M1026K probably damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rapgef2 T C 3: 78,976,703 (GRCm39) I1368V probably benign Het
Rnf168 T C 16: 32,117,813 (GRCm39) V458A probably benign Het
Rnf32 T C 5: 29,410,652 (GRCm39) probably benign Het
Sclt1 T C 3: 41,583,943 (GRCm39) probably benign Het
Serpina12 A G 12: 104,004,216 (GRCm39) F139L probably damaging Het
Sos2 T G 12: 69,643,467 (GRCm39) Q971P probably damaging Het
Stag3 T A 5: 138,299,298 (GRCm39) probably null Het
Stard5 T C 7: 83,285,951 (GRCm39) probably benign Het
Stard9 T A 2: 120,526,313 (GRCm39) C857S probably benign Het
Suclg1 A G 6: 73,237,486 (GRCm39) E77G probably benign Het
Trpm7 A G 2: 126,637,388 (GRCm39) S204P probably damaging Het
Ush2a G T 1: 188,358,809 (GRCm39) G2112C probably benign Het
Vmn2r15 T A 5: 109,441,010 (GRCm39) T283S possibly damaging Het
Wdr6 A T 9: 108,450,168 (GRCm39) V1120D probably damaging Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A 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
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
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
Predicted Primers PCR Primer
(F):5'- GGACCACCTAAAGCTGTGCAAGAC -3'
(R):5'- GCTTTCAGAGGTATTCTGCACTCCG -3'

Sequencing Primer
(F):5'- AGCAAAGGTGTACTCATCTCCTTG -3'
(R):5'- CTGTCAGCTCAGTGAGGAG -3'
Posted On 2013-05-09