Incidental Mutation 'IGL03028:Col26a1'
ID 408302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col26a1
Ensembl Gene ENSMUSG00000004415
Gene Name collagen, type XXVI, alpha 1
Synonyms Emid2, 9430032K24Rik, Collagen XXVI, Emu2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03028
Quality Score
Status
Chromosome 5
Chromosomal Location 136770613-136912063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 136771972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 415 (D415E)
Ref Sequence ENSEMBL: ENSMUSP00000106732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057497] [ENSMUST00000111103]
AlphaFold Q91VF6
Predicted Effect probably benign
Transcript: ENSMUST00000057497
AA Change: D417E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: D417E

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 possibly damaging
Transcript: ENSMUST00000111103
AA Change: D415E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: D415E

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
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly damaging Het
Other mutations in Col26a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02500:Col26a1 APN 5 136,783,193 (GRCm39) nonsense probably null
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
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
Posted On 2016-08-02