Incidental Mutation 'R0390:Col19a1'
ID 31560
Institutional Source Beutler Lab
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Name collagen, type XIX, alpha 1
Synonyms
MMRRC Submission 038596-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0390 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 24300971-24626553 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 24328736 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 benign
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 benign
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
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.0%
Validation Efficiency 98% (110/112)
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ap2m1 T C 16: 20,359,849 (GRCm39) M183T probably damaging Het
Apob A T 12: 8,038,678 (GRCm39) I364F probably damaging Het
Arl6 A T 16: 59,442,784 (GRCm39) probably benign Het
Cand2 A G 6: 115,751,614 (GRCm39) M15V possibly damaging Het
Cbl A G 9: 44,112,302 (GRCm39) F131S probably damaging Het
Ccdc74a A G 16: 17,468,340 (GRCm39) S321G probably benign Het
Cdc14b T C 13: 64,358,006 (GRCm39) probably benign Het
Cep152 T C 2: 125,418,789 (GRCm39) probably benign Het
Cep290 A G 10: 100,344,620 (GRCm39) E479G probably benign Het
Chrm2 T G 6: 36,501,046 (GRCm39) I301R probably benign Het
Clec2e A G 6: 129,070,431 (GRCm39) W197R probably damaging Het
Cnot10 G T 9: 114,458,218 (GRCm39) S96* probably null Het
Csmd2 T C 4: 128,027,466 (GRCm39) probably benign Het
Cthrc1 A T 15: 38,950,159 (GRCm39) *172L probably null Het
Cul9 A T 17: 46,839,515 (GRCm39) I821N probably benign Het
Daam1 G C 12: 72,022,078 (GRCm39) probably benign Het
Dhx58 A T 11: 100,590,090 (GRCm39) I398N probably damaging Het
Dip2b T A 15: 100,091,794 (GRCm39) H844Q probably damaging Het
Dmac2 A G 7: 25,320,454 (GRCm39) D50G probably damaging Het
Dmxl1 C A 18: 50,012,429 (GRCm39) Q1529K probably benign Het
Dtna C T 18: 23,730,558 (GRCm39) P315L probably damaging Het
Ep300 T C 15: 81,524,317 (GRCm39) S1382P unknown Het
Fat2 A T 11: 55,201,603 (GRCm39) N490K probably damaging Het
Flg2 T A 3: 93,107,662 (GRCm39) probably benign Het
Gpatch1 T C 7: 34,980,806 (GRCm39) probably benign Het
Grin2a C A 16: 9,397,449 (GRCm39) K879N possibly damaging Het
Hacd3 A C 9: 64,908,304 (GRCm39) I164S possibly damaging Het
Hinfp A C 9: 44,210,245 (GRCm39) C197G probably damaging Het
Hsd17b12 T C 2: 93,945,335 (GRCm39) probably benign Het
Hsd3b1 A T 3: 98,760,355 (GRCm39) L212Q probably damaging Het
Ifrd1 C T 12: 40,264,093 (GRCm39) probably null Het
Igf2bp2 A G 16: 21,900,551 (GRCm39) F129L possibly damaging Het
Kirrel3 T A 9: 34,931,459 (GRCm39) I409N probably damaging Het
Klhdc10 T C 6: 30,447,411 (GRCm39) I204T probably damaging Het
Kpna6 A T 4: 129,551,597 (GRCm39) S65R possibly damaging Het
Lama3 A T 18: 12,540,620 (GRCm39) D308V probably benign Het
Larp4b T A 13: 9,208,143 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lyzl1 A T 18: 4,169,175 (GRCm39) T11S probably benign Het
Man1c1 A G 4: 134,305,626 (GRCm39) L366P probably damaging Het
Mef2a A G 7: 66,901,472 (GRCm39) M100T probably damaging Het
Mettl13 G A 1: 162,366,458 (GRCm39) H474Y possibly damaging Het
Minar2 T A 18: 59,208,760 (GRCm39) V136E probably damaging Het
Mmp3 A G 9: 7,451,320 (GRCm39) D352G probably benign Het
Mns1 T C 9: 72,360,086 (GRCm39) I412T probably damaging Het
Mon2 T C 10: 122,842,926 (GRCm39) D1501G probably null Het
Mylk G T 16: 34,695,990 (GRCm39) G242W probably damaging Het
Nav1 T C 1: 135,377,704 (GRCm39) D1715G possibly damaging Het
Nckap1l T C 15: 103,362,310 (GRCm39) S2P probably damaging Het
Nek3 A T 8: 22,618,745 (GRCm39) probably benign Het
Nfrkb A G 9: 31,300,193 (GRCm39) probably benign Het
Nlrp4d T C 7: 10,122,705 (GRCm39) D53G probably benign Het
Nol8 T C 13: 49,815,628 (GRCm39) S561P probably damaging Het
Nuf2 A C 1: 169,352,866 (GRCm39) probably benign Het
Odad3 T A 9: 21,903,004 (GRCm39) H442L probably benign Het
Ofcc1 T A 13: 40,168,789 (GRCm39) D866V possibly damaging Het
Optn A G 2: 5,051,006 (GRCm39) L125P probably benign Het
Or5k3 A G 16: 58,969,662 (GRCm39) I150V probably benign Het
Otoa T A 7: 120,730,564 (GRCm39) F588Y probably benign Het
Pappa T A 4: 65,269,850 (GRCm39) probably null Het
Pde5a T G 3: 122,629,232 (GRCm39) C635W probably damaging Het
Pdgfb A T 15: 79,887,620 (GRCm39) probably null Het
Pih1d2 T A 9: 50,532,346 (GRCm39) C135S probably damaging Het
Plcg1 G T 2: 160,594,286 (GRCm39) C361F probably damaging Het
Ppp4r4 T C 12: 103,567,619 (GRCm39) probably benign Het
Pramel26 T A 4: 143,538,269 (GRCm39) D234V probably benign Het
Prdm10 G A 9: 31,260,564 (GRCm39) probably null Het
Prex2 T A 1: 11,159,930 (GRCm39) probably null Het
Prss56 T G 1: 87,112,452 (GRCm39) probably null Het
Prtg A G 9: 72,752,240 (GRCm39) K209E probably benign Het
Ptprc G A 1: 138,050,313 (GRCm39) T36I possibly damaging Het
Rasgrp4 A G 7: 28,845,285 (GRCm39) Y302C probably damaging Het
Rb1cc1 T A 1: 6,318,858 (GRCm39) M759K probably damaging Het
Rbm15b T A 9: 106,763,197 (GRCm39) M324L probably benign Het
Rcbtb2 T C 14: 73,415,987 (GRCm39) V500A probably damaging Het
Rgs6 A G 12: 83,180,451 (GRCm39) K434R probably damaging Het
Rims1 C T 1: 22,635,607 (GRCm39) A125T possibly damaging Het
Robo3 A G 9: 37,333,473 (GRCm39) V746A probably benign Het
Rtl1 C T 12: 109,557,820 (GRCm39) E1340K unknown Het
Sacs G A 14: 61,443,089 (GRCm39) D1712N possibly damaging Het
Samd4b G A 7: 28,103,402 (GRCm39) P19S probably benign Het
Samhd1 T C 2: 156,956,151 (GRCm39) Y347C probably damaging Het
Sema6d T A 2: 124,500,410 (GRCm39) I393N probably damaging Het
Sigmar1 C T 4: 41,741,243 (GRCm39) A4T probably benign Het
Skint9 C A 4: 112,246,376 (GRCm39) L245F probably benign Het
Slc35f5 T C 1: 125,512,832 (GRCm39) L372P probably damaging Het
Smc1b A T 15: 84,950,478 (GRCm39) I1182N probably damaging Het
Smyd3 A G 1: 178,785,138 (GRCm39) probably benign Het
Sptlc1 T C 13: 53,491,648 (GRCm39) D417G probably benign Het
Sv2c T C 13: 96,225,216 (GRCm39) N31S probably benign Het
Tjp1 T C 7: 64,964,738 (GRCm39) D811G probably damaging Het
Top2b A G 14: 16,418,442 (GRCm38) T1221A probably benign Het
Tph2 T C 10: 115,010,014 (GRCm39) D182G probably damaging Het
Traf6 C T 2: 101,518,933 (GRCm39) Q141* probably null Het
Ttn T C 2: 76,587,275 (GRCm39) D21574G probably damaging Het
Uba2 T A 7: 33,850,446 (GRCm39) N367I probably benign Het
Ube2b T C 11: 51,879,429 (GRCm39) probably benign Het
Ubr5 G T 15: 38,030,916 (GRCm39) L426I probably benign Het
Ugt2a2 T A 5: 87,612,007 (GRCm39) H301L probably benign Het
Upf2 T A 2: 6,023,705 (GRCm39) probably benign Het
Utrn T C 10: 12,585,804 (GRCm39) D991G probably benign Het
Vmn2r25 T C 6: 123,800,140 (GRCm39) D734G probably damaging Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vwf T A 6: 125,603,324 (GRCm39) Y891* probably null Het
Wwox C T 8: 115,433,018 (GRCm39) T228I probably benign Het
Zer1 C T 2: 29,998,225 (GRCm39) probably benign Het
Zfp180 C T 7: 23,804,132 (GRCm39) H184Y possibly damaging Het
Zfp68 A T 5: 138,605,487 (GRCm39) Y279N probably benign 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
IGL02040:Col19a1 APN 1 24,351,126 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CTAAGGAGGAACATGAAGAGGCAGCG -3'
(R):5'- CCAGGAGTACCAGGGGAGCAGGTAA -3'

Sequencing Primer
(F):5'- cccctctcccccaactc -3'
(R):5'- GCAGGTAAGCTACCTTTTACAATGG -3'
Posted On 2013-04-24