Incidental Mutation 'R6481:Col26a1'
ID 517090
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 044613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6481 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 136770613-136912063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136773032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 383 (M383V)
Ref Sequence ENSEMBL: ENSMUSP00000052095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057497] [ENSMUST00000111103]
AlphaFold Q91VF6
Predicted Effect probably benign
Transcript: ENSMUST00000057497
AA Change: M383V

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: M383V

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 benign
Transcript: ENSMUST00000111103
AA Change: M381V

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: M381V

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: ENSMUST00000125061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141744
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428L18Rik T C 1: 31,261,588 (GRCm39) probably benign Het
Aadacl2fm3 T C 3: 59,768,478 (GRCm39) Y3H probably benign Het
Abca9 G A 11: 110,056,788 (GRCm39) Q11* probably null Het
Abcc9 A T 6: 142,550,621 (GRCm39) M1273K probably damaging Het
Abi2 A G 1: 60,478,098 (GRCm39) probably null Het
Acsm5 A G 7: 119,134,104 (GRCm39) E295G probably benign Het
Anapc5 T C 5: 122,938,607 (GRCm39) D389G probably benign Het
Ano3 A T 2: 110,625,372 (GRCm39) D159E probably benign Het
Arhgap26 T A 18: 39,283,110 (GRCm39) M349K probably damaging Het
Arhgef39 A G 4: 43,498,580 (GRCm39) probably null Het
Astn1 T C 1: 158,440,032 (GRCm39) S867P probably benign Het
Atad3a A T 4: 155,838,098 (GRCm39) probably null Het
Cadm1 A T 9: 47,699,407 (GRCm39) D91V probably damaging Het
Cc2d2b T C 19: 40,790,839 (GRCm39) I933T possibly damaging Het
Cdcp3 A T 7: 130,858,530 (GRCm39) D1066V probably benign Het
Celsr3 C G 9: 108,714,283 (GRCm39) N1937K possibly damaging Het
Cic A C 7: 24,987,706 (GRCm39) T558P possibly damaging Het
Cntln A G 4: 84,985,747 (GRCm39) M933V probably benign Het
Coch T C 12: 51,644,956 (GRCm39) F170S probably damaging Het
Col1a2 A G 6: 4,538,680 (GRCm39) Y1200C unknown Het
Col4a4 A T 1: 82,431,499 (GRCm39) M1595K unknown Het
Crh T C 3: 19,748,501 (GRCm39) E47G probably benign Het
D930020B18Rik T C 10: 121,497,053 (GRCm39) probably null Het
Def6 G A 17: 28,445,137 (GRCm39) R482H probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpagt1 T C 9: 44,242,487 (GRCm39) L241P probably damaging Het
E2f7 A G 10: 110,610,542 (GRCm39) E389G probably damaging Het
Eif2b1 T C 5: 124,715,174 (GRCm39) I53V probably benign Het
Fbxo4 A G 15: 3,995,216 (GRCm39) L376P probably damaging Het
Fgfr2 A G 7: 129,787,008 (GRCm39) S352P possibly damaging Het
Fkbpl C A 17: 34,864,388 (GRCm39) P52Q possibly damaging Het
Fry G A 5: 150,309,479 (GRCm39) R641H probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm12728 A G 4: 105,651,546 (GRCm39) K52R probably damaging Het
Gtf2a1l A G 17: 89,019,053 (GRCm39) D379G probably benign Het
Gys1 A T 7: 45,092,393 (GRCm39) Y332F possibly damaging Het
Hoxa7 T A 6: 52,193,594 (GRCm39) probably benign Het
Ifitm1 G A 7: 140,549,519 (GRCm39) V101I probably benign Het
Kalrn T A 16: 34,181,354 (GRCm39) T95S probably damaging Het
Leng8 A G 7: 4,148,412 (GRCm39) Y728C probably damaging Het
Lonp2 G T 8: 87,361,536 (GRCm39) D238Y possibly damaging Het
Ltn1 A C 16: 87,175,868 (GRCm39) S1757A probably damaging Het
Man2a2 A T 7: 80,013,819 (GRCm39) S411T probably damaging Het
Mrps33 C A 6: 39,782,304 (GRCm39) probably null Het
Muc16 C T 9: 18,461,973 (GRCm39) probably null Het
Muc5ac A G 7: 141,362,808 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Or10al6 T G 17: 38,083,194 (GRCm39) F217V probably damaging Het
Or13p8 A G 4: 118,583,930 (GRCm39) Y162C probably damaging Het
Or1j21 T A 2: 36,683,789 (GRCm39) D180E possibly damaging Het
Or4c106 A T 2: 88,682,863 (GRCm39) T190S probably damaging Het
Or55b10 A T 7: 102,143,346 (GRCm39) V212D probably damaging Het
Or5w17 T C 2: 87,583,812 (GRCm39) N175S probably damaging Het
Pag1 T A 3: 9,764,396 (GRCm39) E252D possibly damaging Het
Plcd3 T C 11: 102,968,593 (GRCm39) Y366C probably damaging Het
Psg17 A C 7: 18,548,375 (GRCm39) S465R probably damaging Het
Ptpn9 G T 9: 56,930,324 (GRCm39) V50L probably damaging Het
Rab17 T G 1: 90,886,683 (GRCm39) S190R probably benign Het
Samd11 A G 4: 156,333,535 (GRCm39) probably null Het
Slc17a5 A G 9: 78,445,553 (GRCm39) F434S possibly damaging Het
Slc22a15 A G 3: 101,790,899 (GRCm39) I202T possibly damaging Het
Slc8a1 G T 17: 81,696,347 (GRCm39) Q896K probably benign Het
Slc9a5 A T 8: 106,085,025 (GRCm39) K509* probably null Het
Slf2 A C 19: 44,961,603 (GRCm39) M1041L probably benign Het
Smn1 A G 13: 100,265,008 (GRCm39) probably null Het
Snx9 T C 17: 5,972,484 (GRCm39) probably null Het
Soat2 T A 15: 102,070,490 (GRCm39) L431Q probably damaging Het
Spam1 T A 6: 24,796,929 (GRCm39) N293K probably benign Het
Tatdn1 T C 15: 58,795,760 (GRCm39) T66A possibly damaging Het
Tmprss11g A T 5: 86,640,015 (GRCm39) S205T probably benign Het
Tnpo3 G T 6: 29,571,100 (GRCm39) N431K possibly damaging Het
Trim39 T C 17: 36,579,554 (GRCm39) T31A probably benign Het
Trmt9b T C 8: 36,965,637 (GRCm39) probably null Het
Tshz3 A G 7: 36,451,764 (GRCm39) probably null Het
Ttll11 G A 2: 35,792,766 (GRCm39) T359M probably damaging Het
Ttn T G 2: 76,571,843 (GRCm39) D26350A probably damaging Het
Ubr4 G T 4: 139,159,062 (GRCm39) V2472F probably damaging Het
Vsx2 C T 12: 84,639,878 (GRCm39) P265S probably benign Het
Wdr90 C T 17: 26,064,885 (GRCm39) G1708R probably damaging Het
Wnt11 A G 7: 98,502,481 (GRCm39) Y351C probably damaging Het
Xpo6 A C 7: 125,712,057 (GRCm39) N3K probably damaging Het
Zfp445 A G 9: 122,686,631 (GRCm39) S165P probably benign Het
Zfp953 A T 13: 67,496,001 (GRCm39) Y13* probably null Het
Zftraf1 T C 15: 76,542,908 (GRCm39) probably null 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
R6026:Col26a1 UTSW 5 136,876,354 (GRCm39) missense probably damaging 1.00
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'- ATTGGCCTGAGCAAGATGTG -3'
(R):5'- ACTGTAGCGGTGTGAACAC -3'

Sequencing Primer
(F):5'- GCTGGTCATCCCCTGTGATG -3'
(R):5'- TGTGAACACTGAGGGAAAGGC -3'
Posted On 2018-05-21