Incidental Mutation 'R6610:AB124611'
ID 525903
Institutional Source Beutler Lab
Gene Symbol AB124611
Ensembl Gene ENSMUSG00000057191
Gene Name cDNA sequence AB124611
Synonyms LOC382062, HIDE1
MMRRC Submission 044733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6610 (G1)
Quality Score 157.009
Status Not validated
Chromosome 9
Chromosomal Location 21437472-21456629 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 21437561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000134056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076326] [ENSMUST00000086361] [ENSMUST00000173769]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000076326
AA Change: M1L
SMART Domains Protein: ENSMUSP00000075665
Gene: ENSMUSG00000057191
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 33 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086361
AA Change: M1L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000083547
Gene: ENSMUSG00000057191
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:IG 28 121 1e-12 BLAST
transmembrane domain 127 149 N/A INTRINSIC
low complexity region 207 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173769
AA Change: M1L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134056
Gene: ENSMUSG00000057191
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:IG 28 121 8e-13 BLAST
low complexity region 177 192 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,974,190 (GRCm39) K271E probably damaging Het
Ankrd44 A G 1: 54,694,246 (GRCm39) I914T probably benign Het
Atp12a A G 14: 56,612,013 (GRCm39) R396G probably damaging Het
C2cd3 A G 7: 100,104,505 (GRCm39) K2173E probably benign Het
Cbx2 A G 11: 118,915,036 (GRCm39) D51G probably damaging Het
Ccdc33 T A 9: 57,976,419 (GRCm39) T532S possibly damaging Het
Ccnt1 T C 15: 98,462,982 (GRCm39) I63M probably damaging Het
Cdc20b C T 13: 113,200,796 (GRCm39) T172I probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Ces2f T G 8: 105,676,738 (GRCm39) probably null Het
Cfh A T 1: 140,029,486 (GRCm39) C597* probably null Het
Cntnap2 A T 6: 45,992,191 (GRCm39) T373S probably benign Het
Cyb5r4 T G 9: 86,941,470 (GRCm39) C64G probably benign Het
Cyp2c23 A G 19: 43,995,520 (GRCm39) F416L probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Eif4e1b A G 13: 54,932,128 (GRCm39) probably benign Het
Elp1 A G 4: 56,758,236 (GRCm39) V1227A probably benign Het
Etl4 G A 2: 20,718,180 (GRCm39) R256K probably damaging Het
Fhad1 A G 4: 141,643,707 (GRCm39) L1054P possibly damaging Het
Grik1 A G 16: 87,831,200 (GRCm39) I190T probably damaging Het
Gsdmc2 T C 15: 63,696,857 (GRCm39) N438S probably benign Het
Igkv15-103 A T 6: 68,414,617 (GRCm39) R19* probably null Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Lhcgr A T 17: 89,077,307 (GRCm39) I93K possibly damaging Het
Muc6 G C 7: 141,226,700 (GRCm39) probably benign Het
Mymk G T 2: 26,957,405 (GRCm39) S29R possibly damaging Het
Nab2 A T 10: 127,500,207 (GRCm39) I295N probably damaging Het
Neu2 A T 1: 87,524,407 (GRCm39) T131S probably benign Het
Pdcd7 T A 9: 65,261,965 (GRCm39) M129K possibly damaging Het
Ptar1 A G 19: 23,695,208 (GRCm39) H225R probably benign Het
Pygb T A 2: 150,665,886 (GRCm39) probably null Het
Rpap3 T C 15: 97,586,049 (GRCm39) D314G probably benign Het
Scara3 A G 14: 66,168,670 (GRCm39) S316P probably damaging Het
Sec24a C T 11: 51,587,483 (GRCm39) V1051I probably benign Het
Setdb1 G T 3: 95,235,888 (GRCm39) A841D probably damaging Het
Stk32b G A 5: 37,606,022 (GRCm39) T407I probably benign Het
Tcte2 G A 17: 13,948,250 (GRCm39) Q10* probably null Het
Tgm2 C A 2: 157,985,020 (GRCm39) E29* probably null Het
Trim32 G A 4: 65,533,308 (GRCm39) V622M probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Vmn1r123 A G 7: 20,896,515 (GRCm39) N136D probably benign Het
Vmn2r31 A T 7: 7,387,588 (GRCm39) V661E probably damaging Het
Vmn2r85 A T 10: 130,261,838 (GRCm39) F166L probably damaging Het
Zfp426 T C 9: 20,384,389 (GRCm39) K98R probably damaging Het
Zfp534 C T 4: 147,758,947 (GRCm39) R574K probably benign Het
Other mutations in AB124611
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:AB124611 APN 9 21,451,190 (GRCm39) splice site probably benign
IGL01566:AB124611 APN 9 21,447,285 (GRCm39) missense possibly damaging 0.46
IGL01571:AB124611 APN 9 21,450,377 (GRCm39) splice site probably benign
IGL02428:AB124611 APN 9 21,440,221 (GRCm39) missense possibly damaging 0.66
R7284:AB124611 UTSW 9 21,450,400 (GRCm39) missense probably benign 0.27
R7807:AB124611 UTSW 9 21,447,276 (GRCm39) missense probably benign
R8300:AB124611 UTSW 9 21,437,561 (GRCm39) start codon destroyed probably null 0.01
R8417:AB124611 UTSW 9 21,440,381 (GRCm39) critical splice donor site probably null
R8550:AB124611 UTSW 9 21,451,882 (GRCm39) missense probably damaging 1.00
R8843:AB124611 UTSW 9 21,440,331 (GRCm39) missense probably benign
R9156:AB124611 UTSW 9 21,455,989 (GRCm39) missense possibly damaging 0.90
Predicted Primers
Posted On 2018-06-22