Incidental Mutation 'IGL02040:Col19a1'
ID 184720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Name collagen, type XIX, alpha 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02040
Quality Score
Status
Chromosome 1
Chromosomal Location 24300971-24626553 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 24351126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]
AlphaFold Q0VF58
Predicted Effect probably null
Transcript: ENSMUST00000051344
SMART Domains Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
TSPN 47 231 1.61e-63 SMART
low complexity region 254 266 N/A INTRINSIC
Pfam:Collagen 288 349 1e-9 PFAM
Pfam:Collagen 325 391 2.2e-10 PFAM
Pfam:Collagen 376 442 1.4e-8 PFAM
Pfam:Collagen 436 500 2.9e-9 PFAM
Pfam:Collagen 474 536 6.3e-10 PFAM
Pfam:Collagen 519 579 5.6e-10 PFAM
Pfam:Collagen 559 620 1.2e-8 PFAM
Pfam:Collagen 619 675 8.7e-11 PFAM
Pfam:Collagen 697 774 2.4e-8 PFAM
Pfam:Collagen 753 819 8.7e-10 PFAM
Pfam:Collagen 831 892 8.8e-12 PFAM
internal_repeat_2 905 943 3.52e-11 PROSPERO
internal_repeat_1 905 980 8.61e-26 PROSPERO
internal_repeat_2 947 982 3.52e-11 PROSPERO
low complexity region 983 1003 N/A INTRINSIC
low complexity region 1030 1042 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115244
SMART Domains Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
TSPN 47 231 1.61e-63 SMART
low complexity region 254 266 N/A INTRINSIC
Pfam:Collagen 288 347 3.1e-9 PFAM
Pfam:Collagen 330 391 1.1e-9 PFAM
internal_repeat_4 455 492 1.88e-5 PROSPERO
Pfam:Collagen 519 579 2e-9 PFAM
Pfam:Collagen 559 620 4.9e-8 PFAM
Pfam:Collagen 619 675 3.5e-10 PFAM
low complexity region 723 741 N/A INTRINSIC
Pfam:Collagen 753 819 2.8e-9 PFAM
Pfam:Collagen 831 892 3.9e-11 PFAM
internal_repeat_2 905 943 1.18e-11 PROSPERO
internal_repeat_1 905 980 8.89e-27 PROSPERO
internal_repeat_2 947 982 1.18e-11 PROSPERO
low complexity region 983 1003 N/A INTRINSIC
low complexity region 1048 1069 N/A INTRINSIC
low complexity region 1078 1115 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144297
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 the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,630,405 (GRCm39) F107C probably damaging Het
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
A830018L16Rik T A 1: 12,003,822 (GRCm39) probably benign Het
Adgrb1 T C 15: 74,413,424 (GRCm39) V536A possibly damaging Het
Ano6 T G 15: 95,853,825 (GRCm39) I667R probably benign Het
Ap3b1 T A 13: 94,545,353 (GRCm39) probably null Het
Azin2 G T 4: 128,844,451 (GRCm39) L37M possibly damaging Het
Caap1 A G 4: 94,438,667 (GRCm39) I174T probably damaging Het
Cacna1h A G 17: 25,616,585 (GRCm39) V46A probably benign Het
Chrna6 T C 8: 27,897,289 (GRCm39) D196G probably damaging Het
Defb22 G T 2: 152,331,976 (GRCm39) T19K possibly damaging Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dync1h1 A G 12: 110,603,558 (GRCm39) I2211V probably benign Het
Ecel1 A C 1: 87,082,645 (GRCm39) C23G probably benign Het
Elmod2 A G 8: 84,048,126 (GRCm39) V112A probably damaging Het
Enpp1 T C 10: 24,531,754 (GRCm39) K510E probably damaging Het
Erbb4 A T 1: 68,081,694 (GRCm39) S1113R probably damaging Het
Esf1 A T 2: 139,971,181 (GRCm39) D653E possibly damaging Het
Exd1 A G 2: 119,370,546 (GRCm39) V54A possibly damaging Het
Fam227b A T 2: 125,963,004 (GRCm39) probably benign Het
Fnbp1l A G 3: 122,364,602 (GRCm39) probably benign Het
Foxf1 A G 8: 121,812,084 (GRCm39) N316S probably damaging Het
Gpaa1 T C 15: 76,218,495 (GRCm39) V426A probably benign Het
Gpc2 A G 5: 138,274,844 (GRCm39) probably null Het
Hnrnpab A G 11: 51,492,622 (GRCm39) probably benign Het
Hsf4 T G 8: 106,002,299 (GRCm39) probably benign Het
Inpp4a G T 1: 37,435,166 (GRCm39) R179L probably damaging Het
Jakmip2 T A 18: 43,704,919 (GRCm39) M361L probably benign Het
Kif15 A C 9: 122,846,450 (GRCm39) Y117S probably damaging Het
Lnpep T C 17: 17,765,167 (GRCm39) H761R probably benign Het
Masp2 G T 4: 148,688,270 (GRCm39) C180F probably damaging Het
Mical2 A G 7: 111,910,613 (GRCm39) E261G probably damaging Het
Mtmr7 T C 8: 41,013,926 (GRCm39) I211V probably benign Het
Nsd2 T C 5: 34,024,915 (GRCm39) probably benign Het
Or4c121 A G 2: 89,023,907 (GRCm39) I157T probably benign Het
Or51q1c A G 7: 103,652,614 (GRCm39) N44S probably damaging Het
Or8d1b T C 9: 38,887,910 (GRCm39) probably benign Het
Or8j3c A G 2: 86,253,336 (GRCm39) I228T probably damaging Het
Oxct1 G A 15: 4,056,250 (GRCm39) probably benign Het
Pira13 A G 7: 3,824,516 (GRCm39) probably benign Het
Plbd2 C T 5: 120,625,507 (GRCm39) S430N probably damaging Het
Postn A G 3: 54,270,110 (GRCm39) K63R probably benign Het
Pramel19 G A 4: 101,798,331 (GRCm39) V101I possibly damaging Het
Proc A T 18: 32,267,913 (GRCm39) V75E probably benign Het
Ptprt T C 2: 162,079,992 (GRCm39) Y269C probably damaging Het
Rcc2 T C 4: 140,447,902 (GRCm39) V476A possibly damaging Het
Recql5 A G 11: 115,823,623 (GRCm39) V41A possibly damaging Het
Ros1 T A 10: 51,992,018 (GRCm39) I1402F probably damaging Het
Rpgrip1 C T 14: 52,358,476 (GRCm39) T194I possibly damaging Het
Scin T C 12: 40,119,452 (GRCm39) probably benign Het
Skint4 T C 4: 112,003,679 (GRCm39) probably benign Het
Sptan1 T A 2: 29,903,725 (GRCm39) S1545T probably benign Het
Tpra1 A T 6: 88,887,164 (GRCm39) H168L possibly damaging Het
Trim47 T C 11: 115,998,734 (GRCm39) E295G probably damaging Het
Ttc28 T A 5: 111,040,802 (GRCm39) C63* probably null Het
Usp45 G A 4: 21,830,433 (GRCm39) R696H probably benign Het
Zfyve27 G A 19: 42,167,830 (GRCm39) R124Q probably damaging Het
Other mutations in Col19a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Col19a1 APN 1 24,600,387 (GRCm39) missense unknown
IGL00514:Col19a1 APN 1 24,576,013 (GRCm39) missense unknown
IGL00756:Col19a1 APN 1 24,362,023 (GRCm39) missense possibly damaging 0.85
IGL01408:Col19a1 APN 1 24,345,331 (GRCm39) splice site probably benign
IGL01608:Col19a1 APN 1 24,321,626 (GRCm39) missense probably damaging 1.00
IGL01664:Col19a1 APN 1 24,600,416 (GRCm39) missense unknown
IGL01906:Col19a1 APN 1 24,356,510 (GRCm39) missense probably damaging 1.00
IGL01916:Col19a1 APN 1 24,573,322 (GRCm39) missense unknown
IGL02407:Col19a1 APN 1 24,351,453 (GRCm39) splice site probably null
IGL02505:Col19a1 APN 1 24,339,665 (GRCm39) splice site probably benign
IGL02606:Col19a1 APN 1 24,573,197 (GRCm39) nonsense probably null
IGL02659:Col19a1 APN 1 24,573,115 (GRCm39) missense unknown
IGL02815:Col19a1 APN 1 24,324,332 (GRCm39) splice site probably null
IGL02880:Col19a1 APN 1 24,365,054 (GRCm39) splice site probably benign
IGL02897:Col19a1 APN 1 24,573,179 (GRCm39) missense unknown
IGL03102:Col19a1 APN 1 24,367,134 (GRCm39) missense probably damaging 1.00
R0038:Col19a1 UTSW 1 24,598,825 (GRCm39) missense unknown
R0109:Col19a1 UTSW 1 24,598,849 (GRCm39) splice site probably null
R0124:Col19a1 UTSW 1 24,565,539 (GRCm39) missense unknown
R0326:Col19a1 UTSW 1 24,324,132 (GRCm39) critical splice donor site probably null
R0390:Col19a1 UTSW 1 24,328,736 (GRCm39) splice site probably benign
R0675:Col19a1 UTSW 1 24,614,536 (GRCm39) start gained probably benign
R0826:Col19a1 UTSW 1 24,565,467 (GRCm39) missense unknown
R0948:Col19a1 UTSW 1 24,335,882 (GRCm39) missense probably damaging 0.98
R1014:Col19a1 UTSW 1 24,340,354 (GRCm39) critical splice donor site probably null
R1619:Col19a1 UTSW 1 24,573,172 (GRCm39) missense unknown
R1691:Col19a1 UTSW 1 24,576,022 (GRCm39) missense unknown
R1878:Col19a1 UTSW 1 24,356,476 (GRCm39) missense probably benign 0.40
R1901:Col19a1 UTSW 1 24,576,078 (GRCm39) missense unknown
R1928:Col19a1 UTSW 1 24,490,835 (GRCm39) splice site probably benign
R1940:Col19a1 UTSW 1 24,303,831 (GRCm39) nonsense probably null
R2015:Col19a1 UTSW 1 24,598,834 (GRCm39) missense unknown
R2571:Col19a1 UTSW 1 24,413,712 (GRCm39) missense unknown
R2844:Col19a1 UTSW 1 24,598,762 (GRCm39) missense unknown
R2845:Col19a1 UTSW 1 24,598,762 (GRCm39) missense unknown
R3107:Col19a1 UTSW 1 24,377,017 (GRCm39) missense possibly damaging 0.71
R3861:Col19a1 UTSW 1 24,365,098 (GRCm39) missense probably damaging 1.00
R3872:Col19a1 UTSW 1 24,614,408 (GRCm39) splice site probably benign
R4180:Col19a1 UTSW 1 24,309,473 (GRCm39) missense probably damaging 1.00
R4195:Col19a1 UTSW 1 24,573,133 (GRCm39) missense unknown
R4196:Col19a1 UTSW 1 24,573,133 (GRCm39) missense unknown
R4234:Col19a1 UTSW 1 24,354,476 (GRCm39) splice site probably null
R4250:Col19a1 UTSW 1 24,564,726 (GRCm39) missense unknown
R4396:Col19a1 UTSW 1 24,549,947 (GRCm39) missense unknown
R4405:Col19a1 UTSW 1 24,573,190 (GRCm39) missense unknown
R4450:Col19a1 UTSW 1 24,361,116 (GRCm39) missense probably damaging 0.96
R4583:Col19a1 UTSW 1 24,600,410 (GRCm39) missense unknown
R4980:Col19a1 UTSW 1 24,565,564 (GRCm39) missense unknown
R5222:Col19a1 UTSW 1 24,598,721 (GRCm39) splice site probably null
R5407:Col19a1 UTSW 1 24,342,575 (GRCm39) missense probably damaging 0.99
R5439:Col19a1 UTSW 1 24,332,193 (GRCm39) missense probably damaging 1.00
R5739:Col19a1 UTSW 1 24,376,996 (GRCm39) missense probably damaging 1.00
R5740:Col19a1 UTSW 1 24,376,996 (GRCm39) missense probably damaging 1.00
R5891:Col19a1 UTSW 1 24,328,806 (GRCm39) missense probably damaging 1.00
R5996:Col19a1 UTSW 1 24,367,152 (GRCm39) missense probably damaging 1.00
R6074:Col19a1 UTSW 1 24,565,564 (GRCm39) missense unknown
R6152:Col19a1 UTSW 1 24,413,702 (GRCm39) missense unknown
R6191:Col19a1 UTSW 1 24,356,474 (GRCm39) missense probably damaging 1.00
R6236:Col19a1 UTSW 1 24,319,030 (GRCm39) missense probably damaging 1.00
R6315:Col19a1 UTSW 1 24,565,533 (GRCm39) missense unknown
R6709:Col19a1 UTSW 1 24,321,577 (GRCm39) missense probably damaging 1.00
R6748:Col19a1 UTSW 1 24,573,151 (GRCm39) missense unknown
R7098:Col19a1 UTSW 1 24,565,555 (GRCm39) missense unknown
R7114:Col19a1 UTSW 1 24,377,017 (GRCm39) missense possibly damaging 0.71
R7292:Col19a1 UTSW 1 24,569,089 (GRCm39) missense unknown
R7392:Col19a1 UTSW 1 24,573,115 (GRCm39) missense unknown
R7478:Col19a1 UTSW 1 24,356,788 (GRCm39) missense probably damaging 1.00
R7480:Col19a1 UTSW 1 24,356,788 (GRCm39) missense probably damaging 1.00
R7481:Col19a1 UTSW 1 24,356,788 (GRCm39) missense probably damaging 1.00
R7512:Col19a1 UTSW 1 24,356,788 (GRCm39) missense probably damaging 1.00
R7618:Col19a1 UTSW 1 24,361,165 (GRCm39) missense probably benign 0.07
R7698:Col19a1 UTSW 1 24,351,159 (GRCm39) missense probably benign 0.09
R7711:Col19a1 UTSW 1 24,569,089 (GRCm39) missense unknown
R7725:Col19a1 UTSW 1 24,309,525 (GRCm39) missense possibly damaging 0.94
R7831:Col19a1 UTSW 1 24,565,563 (GRCm39) missense unknown
R8252:Col19a1 UTSW 1 24,319,048 (GRCm39) missense probably benign 0.05
R8728:Col19a1 UTSW 1 24,365,113 (GRCm39) missense probably damaging 1.00
R9057:Col19a1 UTSW 1 24,549,962 (GRCm39) missense unknown
R9210:Col19a1 UTSW 1 24,500,555 (GRCm39) critical splice donor site probably null
R9212:Col19a1 UTSW 1 24,500,555 (GRCm39) critical splice donor site probably null
R9712:Col19a1 UTSW 1 24,367,148 (GRCm39) missense possibly damaging 0.86
R9777:Col19a1 UTSW 1 24,318,904 (GRCm39) missense unknown
Z1088:Col19a1 UTSW 1 24,319,021 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07