Incidental Mutation 'R7098:Col19a1'
ID 550603
Institutional Source Beutler Lab
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Name collagen, type XIX, alpha 1
Synonyms
MMRRC Submission 045190-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7098 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 24300971-24626553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24565555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 259 (S259P)
Ref Sequence ENSEMBL: ENSMUSP00000110899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]
AlphaFold Q0VF58
Predicted Effect unknown
Transcript: ENSMUST00000051344
AA Change: S259P
SMART Domains Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: S259P

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 unknown
Transcript: ENSMUST00000115244
AA Change: S259P
SMART Domains Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: S259P

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
Meta Mutation Damage Score 0.0816 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,644,784 (GRCm39) M223K probably benign Het
Abce1 T C 8: 80,412,678 (GRCm39) T550A probably benign Het
Acoxl C T 2: 127,696,835 (GRCm39) Q28* probably null Het
Adam8 T C 7: 139,559,412 (GRCm39) K820R possibly damaging Het
Adamts3 G T 5: 90,009,354 (GRCm39) A103D probably damaging Het
Apba2 T A 7: 64,386,696 (GRCm39) V441D probably damaging Het
Arap2 A G 5: 62,833,293 (GRCm39) probably null Het
Arhgef10l T A 4: 140,308,222 (GRCm39) M44L probably benign Het
Asb4 T C 6: 5,398,499 (GRCm39) C155R probably damaging Het
Bpifb6 A T 2: 153,748,810 (GRCm39) K269* probably null Het
Cc2d2a A T 5: 43,840,481 (GRCm39) T161S probably benign Het
Ccdc15 T A 9: 37,255,256 (GRCm39) Q98L probably damaging Het
Col5a2 A T 1: 45,419,227 (GRCm39) D1284E possibly damaging Het
Cyp2c70 T C 19: 40,168,931 (GRCm39) T119A probably benign Het
Dennd6b C T 15: 89,072,890 (GRCm39) C188Y probably damaging Het
Dhx8 T A 11: 101,628,594 (GRCm39) probably null Het
Dhx9 T C 1: 153,340,768 (GRCm39) K624R probably benign Het
Dpys C T 15: 39,656,727 (GRCm39) V447M probably damaging Het
E130308A19Rik T C 4: 59,753,004 (GRCm39) S706P possibly damaging Het
Esrrb A G 12: 86,517,189 (GRCm39) D107G probably benign Het
Frmd4a T C 2: 4,577,244 (GRCm39) S367P probably damaging Het
Garin2 G A 12: 78,766,408 (GRCm39) probably null Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm136 T C 4: 34,746,628 (GRCm39) I128V probably benign Het
Gm6525 T A 3: 84,082,309 (GRCm39) C77S possibly damaging Het
Grid2ip T C 5: 143,343,346 (GRCm39) F14S probably damaging Het
Hdhd3 C T 4: 62,418,152 (GRCm39) R8H probably damaging Het
Kdelr1 C A 7: 45,523,480 (GRCm39) A69D possibly damaging Het
Krtap16-3 T A 16: 88,759,560 (GRCm39) Y51F unknown Het
Lrrc40 T A 3: 157,747,276 (GRCm39) N129K probably benign Het
Man1b1 T A 2: 25,228,196 (GRCm39) D155E probably damaging Het
Mcm5 T C 8: 75,847,529 (GRCm39) V442A probably damaging Het
Mfsd14a C T 3: 116,435,361 (GRCm39) A235T probably benign Het
Mmp1a C A 9: 7,475,938 (GRCm39) T401K probably benign Het
Mpig6b C T 17: 35,283,320 (GRCm39) R196Q unknown Het
Mroh1 C T 15: 76,292,657 (GRCm39) Q262* probably null Het
Msh3 A T 13: 92,410,619 (GRCm39) D656E possibly damaging Het
Muc4 A T 16: 32,577,465 (GRCm39) T252S Het
Myh15 C T 16: 48,997,420 (GRCm39) A1746V possibly damaging Het
Myh8 C A 11: 67,169,879 (GRCm39) T66K probably benign Het
Nemf A T 12: 69,359,241 (GRCm39) Y999N probably damaging Het
Neurod1 T C 2: 79,285,029 (GRCm39) N118S probably damaging Het
Nlrp1b T A 11: 71,109,100 (GRCm39) I134L possibly damaging Het
Nsun7 A T 5: 66,418,326 (GRCm39) I19F probably damaging Het
Ofcc1 A G 13: 40,157,442 (GRCm39) probably null Het
P2rx7 A G 5: 122,811,856 (GRCm39) E389G probably damaging Het
Pam C T 1: 97,826,072 (GRCm39) R194H probably benign Het
Pcnt A G 10: 76,220,673 (GRCm39) S2052P probably benign Het
Pfkfb4 T A 9: 108,828,222 (GRCm39) Y86N probably benign Het
Plcd3 T A 11: 102,968,689 (GRCm39) D334V probably damaging Het
Ppard T C 17: 28,517,787 (GRCm39) V285A possibly damaging Het
Prune2 A G 19: 17,097,966 (GRCm39) S1157G probably benign Het
Psg21 A T 7: 18,386,470 (GRCm39) L172H probably damaging Het
Psme4 C A 11: 30,800,661 (GRCm39) T1417K probably damaging Het
Ptprc T C 1: 138,027,423 (GRCm39) D336G probably benign Het
Ralgapa1 A T 12: 55,837,095 (GRCm39) probably null Het
Rap1gap C A 4: 137,443,393 (GRCm39) probably null Het
Scap T C 9: 110,201,310 (GRCm39) S100P possibly damaging Het
Scpep1 T C 11: 88,820,011 (GRCm39) I426V possibly damaging Het
Sdk1 T C 5: 142,082,625 (GRCm39) I1341T probably damaging Het
Sfmbt2 T A 2: 10,584,000 (GRCm39) Y786N probably benign Het
Sh3tc1 A T 5: 35,859,358 (GRCm39) probably null Het
Slc5a5 T A 8: 71,341,182 (GRCm39) I386F probably damaging Het
Smarca4 T G 9: 21,546,116 (GRCm39) M98R probably benign Het
St18 G A 1: 6,898,066 (GRCm39) D623N probably damaging Het
Sult2a1 A T 7: 13,549,978 (GRCm39) probably null Het
Tgfb2 C T 1: 186,362,834 (GRCm39) R330H probably damaging Het
Thoc3 A G 13: 54,614,119 (GRCm39) I168T probably damaging Het
Tmem126a C T 7: 90,100,062 (GRCm39) M160I possibly damaging Het
Tmem200b C T 4: 131,649,704 (GRCm39) P208L probably benign Het
Tnrc6c T C 11: 117,604,952 (GRCm39) V29A probably benign Het
Tsc1 C T 2: 28,565,744 (GRCm39) S465F probably benign Het
Ttll5 A G 12: 85,964,447 (GRCm39) probably null Het
Unc13d G T 11: 115,954,552 (GRCm39) L1019I probably damaging Het
Vmn2r102 A T 17: 19,914,670 (GRCm39) H745L probably damaging Het
Wars2 T G 3: 99,123,957 (GRCm39) S273A probably damaging Het
Xrcc6 C A 15: 81,919,955 (GRCm39) S498* probably null Het
Ybx1 A T 4: 119,140,050 (GRCm39) N92K possibly 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
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
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
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'- AGATTTGACTAGGCATGAGGC -3'
(R):5'- GTACACTGCAGGCTTAGTGATAGAG -3'

Sequencing Primer
(F):5'- GTGACCTTTTAGTGGGCA -3'
(R):5'- GCTTGATGGGAGCTAACT -3'
Posted On 2019-05-15