Incidental Mutation 'R6026:Col26a1'
ID 480033
Institutional Source Beutler Lab
Gene Symbol Col26a1
Ensembl Gene ENSMUSG00000004415
Gene Name collagen, type XXVI, alpha 1
Synonyms Emid2, 9430032K24Rik, Collagen XXVI, Emu2
MMRRC Submission 044198-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6026 (G1)
Quality Score 121.008
Status Validated
Chromosome 5
Chromosomal Location 136770613-136912063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136876354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 89 (C89R)
Ref Sequence ENSEMBL: ENSMUSP00000106732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057497] [ENSMUST00000111103]
AlphaFold Q91VF6
Predicted Effect probably damaging
Transcript: ENSMUST00000057497
AA Change: C89R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: C89R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:EMI 53 123 5.6e-21 PFAM
low complexity region 143 157 N/A INTRINSIC
Pfam:Collagen 189 252 2e-10 PFAM
Pfam:Collagen 217 273 8.4e-9 PFAM
low complexity region 302 329 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111103
AA Change: C89R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: C89R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:EMI 52 123 1.2e-27 PFAM
low complexity region 141 155 N/A INTRINSIC
Pfam:Collagen 187 250 2.1e-10 PFAM
Pfam:Collagen 215 271 8.6e-9 PFAM
Pfam:Collagen 298 335 2.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173496
Meta Mutation Damage Score 0.9378 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,581 (GRCm39) D187G probably benign Het
4933421I07Rik A T 7: 42,095,708 (GRCm39) M180K probably benign Het
Aatk T C 11: 119,903,190 (GRCm39) H345R possibly damaging Het
Abcc8 T C 7: 45,816,424 (GRCm39) T239A probably benign Het
Abcf3 A G 16: 20,369,320 (GRCm39) E234G probably damaging Het
Actrt2 T C 4: 154,751,047 (GRCm39) D363G possibly damaging Het
Adam1a A T 5: 121,657,425 (GRCm39) C623S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Barhl2 T A 5: 106,603,474 (GRCm39) K228N probably benign Het
Blvrb A G 7: 27,162,115 (GRCm39) H153R probably damaging Het
Capn9 A G 8: 125,332,601 (GRCm39) D480G probably damaging Het
Cct3 T C 3: 88,219,029 (GRCm39) I182T possibly damaging Het
Clasp2 A G 9: 113,740,646 (GRCm39) N1208D probably benign Het
Cops4 T A 5: 100,690,194 (GRCm39) probably benign Het
Cpox T A 16: 58,491,298 (GRCm39) W170R probably damaging Het
Ddx27 A G 2: 166,875,560 (GRCm39) K656E probably benign Het
Eif4e T C 3: 138,256,661 (GRCm39) I66T probably damaging Het
Ercc3 T C 18: 32,378,974 (GRCm39) probably null Het
Esp38 G A 17: 40,266,032 (GRCm39) C47Y probably damaging Het
Fancd2 T C 6: 113,528,731 (GRCm39) V380A possibly damaging Het
Fbxw7 T A 3: 84,859,948 (GRCm39) probably null Het
Fryl T G 5: 73,257,340 (GRCm39) R736S probably benign Het
Gad2 G A 2: 22,513,748 (GRCm39) V62M probably benign Het
Gigyf2 A G 1: 87,368,454 (GRCm39) T1045A probably damaging Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Gm19410 G A 8: 36,279,580 (GRCm39) S1815N probably benign Het
Gm28051 A T 12: 102,686,444 (GRCm39) L72Q unknown Het
Gm44511 T C 6: 128,797,240 (GRCm39) T83A possibly damaging Het
Grk2 C T 19: 4,340,811 (GRCm39) V246I probably damaging Het
Grm7 C T 6: 111,478,500 (GRCm39) Q62* probably null Het
Gsdmc3 T A 15: 63,738,600 (GRCm39) E154V probably damaging Het
Gstz1 A C 12: 87,206,948 (GRCm39) Q114P probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hhip A T 8: 80,699,069 (GRCm39) C666S probably damaging Het
Hif1a A C 12: 73,979,055 (GRCm39) H193P probably damaging Het
Hyal2 A G 9: 107,449,398 (GRCm39) T385A probably benign Het
Ihh T C 1: 74,985,886 (GRCm39) T200A probably benign Het
Iqgap3 T A 3: 87,997,478 (GRCm39) V218E probably damaging Het
Lct A G 1: 128,227,755 (GRCm39) I1246T probably benign Het
Lmo7 T C 14: 102,118,426 (GRCm39) V217A probably benign Het
Lrp1 C T 10: 127,409,272 (GRCm39) D1616N probably damaging Het
Lrrfip2 A T 9: 111,043,239 (GRCm39) T165S probably damaging Het
Morc2b A G 17: 33,356,957 (GRCm39) Y272H possibly damaging Het
Muc16 A G 9: 18,571,154 (GRCm39) M455T unknown Het
Ncapg2 A T 12: 116,406,641 (GRCm39) D939V possibly damaging Het
Ncbp3 T C 11: 72,958,548 (GRCm39) V236A probably benign Het
Obscn T A 11: 58,957,916 (GRCm39) T3595S probably damaging Het
Odf2l T C 3: 144,854,797 (GRCm39) S545P possibly damaging Het
Or3a1 T A 11: 74,225,914 (GRCm39) I48F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pdzrn3 A C 6: 101,339,105 (GRCm39) C269G probably benign Het
Pear1 T A 3: 87,664,220 (GRCm39) N278Y probably damaging Het
Phb1 C T 11: 95,562,245 (GRCm39) R41* probably null Het
Pikfyve T C 1: 65,311,856 (GRCm39) V2031A probably damaging Het
Plxna2 A G 1: 194,482,122 (GRCm39) I1465V probably damaging Het
Ppp6r2 A G 15: 89,167,113 (GRCm39) N776S probably benign Het
Prkce A T 17: 86,800,658 (GRCm39) E358V probably benign Het
Prl5a1 A T 13: 28,335,247 (GRCm39) I219F probably benign Het
Prss3 T C 6: 41,354,488 (GRCm39) probably null Het
Ptprc A T 1: 137,998,987 (GRCm39) M858K probably damaging Het
Retreg3 T C 11: 100,997,226 (GRCm39) T85A probably damaging Het
Rfc2 T A 5: 134,624,185 (GRCm39) C265S probably damaging Het
Smarcd1 G T 15: 99,603,619 (GRCm39) V256L probably damaging Het
Stat5a T C 11: 100,771,142 (GRCm39) F574L probably damaging Het
Tcirg1 T C 19: 3,947,487 (GRCm39) H624R probably benign Het
Tcstv1a C A 13: 120,355,987 (GRCm39) probably benign Het
Tenm2 C T 11: 35,963,556 (GRCm39) probably null Het
Tomm40 A G 7: 19,444,889 (GRCm39) V164A probably benign Het
Txnl4a T C 18: 80,250,482 (GRCm39) V26A probably damaging Het
Ugt2a3 A T 5: 87,484,336 (GRCm39) F229L probably benign Het
Utp20 T C 10: 88,604,541 (GRCm39) T1785A probably benign Het
Vmn1r22 T A 6: 57,877,390 (GRCm39) I196L probably benign Het
Zfp652 T G 11: 95,640,788 (GRCm39) C238G possibly damaging Het
Other mutations in Col26a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02500:Col26a1 APN 5 136,783,193 (GRCm39) nonsense probably null
IGL03028:Col26a1 APN 5 136,771,972 (GRCm39) missense possibly damaging 0.78
IGL03144:Col26a1 APN 5 136,794,202 (GRCm39) missense probably damaging 0.99
Blobology UTSW 5 136,911,708 (GRCm39) missense probably damaging 0.96
rohrschak UTSW 5 136,865,579 (GRCm39) missense probably damaging 0.99
Subjective UTSW 5 136,775,894 (GRCm39) missense probably benign
PIT4514001:Col26a1 UTSW 5 136,780,579 (GRCm39) missense probably benign
R0454:Col26a1 UTSW 5 136,783,047 (GRCm39) missense probably benign 0.01
R0833:Col26a1 UTSW 5 136,794,154 (GRCm39) critical splice donor site probably null
R0836:Col26a1 UTSW 5 136,794,154 (GRCm39) critical splice donor site probably null
R1187:Col26a1 UTSW 5 136,773,020 (GRCm39) missense probably damaging 0.99
R1236:Col26a1 UTSW 5 136,783,780 (GRCm39) missense probably benign
R4646:Col26a1 UTSW 5 136,876,404 (GRCm39) missense probably damaging 1.00
R4804:Col26a1 UTSW 5 136,865,579 (GRCm39) missense probably damaging 0.99
R5772:Col26a1 UTSW 5 136,876,420 (GRCm39) nonsense probably null
R6481:Col26a1 UTSW 5 136,773,032 (GRCm39) missense probably benign 0.45
R6919:Col26a1 UTSW 5 136,773,088 (GRCm39) missense possibly damaging 0.86
R7848:Col26a1 UTSW 5 136,775,907 (GRCm39) missense possibly damaging 0.72
R7895:Col26a1 UTSW 5 136,777,031 (GRCm39) splice site probably null
R7911:Col26a1 UTSW 5 136,771,952 (GRCm39) missense probably damaging 1.00
R8131:Col26a1 UTSW 5 136,775,894 (GRCm39) missense probably benign
R8776:Col26a1 UTSW 5 136,911,708 (GRCm39) missense probably damaging 0.96
R8776-TAIL:Col26a1 UTSW 5 136,911,708 (GRCm39) missense probably damaging 0.96
R9099:Col26a1 UTSW 5 136,777,202 (GRCm39) missense probably benign 0.00
R9294:Col26a1 UTSW 5 136,786,608 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- AGGGGCAGCTCTAAAACCTAG -3'
(R):5'- TACACTGTCCCTGGGCCATC -3'

Sequencing Primer
(F):5'- GGGGCAGCTCTAAAACCTAGATTTC -3'
(R):5'- CCTGGGCCATCTGGGAAC -3'
Posted On 2017-06-26