Incidental Mutation 'R7480:Col19a1'
ID 579708
Institutional Source Beutler Lab
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Name collagen, type XIX, alpha 1
Synonyms
MMRRC Submission 045554-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7480 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 24300971-24626553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24356788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 632 (G632R)
Ref Sequence ENSEMBL: ENSMUSP00000110899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]
AlphaFold Q0VF58
Predicted Effect probably damaging
Transcript: ENSMUST00000051344
AA Change: G632R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: G632R

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 damaging
Transcript: ENSMUST00000115244
AA Change: G632R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: G632R

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 0.9290 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg9 T G 9: 50,733,928 (GRCm39) M542R probably benign Het
Apol10b G T 15: 77,472,988 (GRCm39) A22D probably benign Het
Arhgap45 T A 10: 79,862,936 (GRCm39) L704* probably null Het
Bicc1 T C 10: 70,779,306 (GRCm39) D694G probably damaging Het
C1ql3 A T 2: 13,015,150 (GRCm39) I170N probably damaging Het
Casz1 T C 4: 149,029,043 (GRCm39) F1163L probably damaging Het
Ces2f A G 8: 105,681,338 (GRCm39) K559R possibly damaging Het
Cr2 C T 1: 194,836,484 (GRCm39) C893Y probably damaging Het
Csf1r T G 18: 61,250,610 (GRCm39) D440E probably benign Het
Cul9 A T 17: 46,848,738 (GRCm39) M666K probably benign Het
Dapk1 A G 13: 60,905,311 (GRCm39) D1007G probably benign Het
Dlk1 T A 12: 109,421,540 (GRCm39) C85S probably damaging Het
Epb41l3 A C 17: 69,568,867 (GRCm39) probably null Het
Eri2 T A 7: 119,385,734 (GRCm39) R256* probably null Het
Fshr A C 17: 89,292,802 (GRCm39) Y625* probably null Het
Galk2 A G 2: 125,788,845 (GRCm39) I300V probably benign Het
Garin1a G A 6: 29,281,435 (GRCm39) probably null Het
Gm3409 T A 5: 146,476,311 (GRCm39) V154E probably damaging Het
Gm7356 A G 17: 14,221,327 (GRCm39) I234T possibly damaging Het
Gtf3c1 T C 7: 125,241,713 (GRCm39) Y1995C probably benign Het
Herc6 C T 6: 57,558,206 (GRCm39) T62I possibly damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hmcn1 A T 1: 150,552,985 (GRCm39) probably null Het
Iqca1l T G 5: 24,751,904 (GRCm39) E498A probably damaging Het
Jrk G T 15: 74,578,902 (GRCm39) P128T probably benign Het
Kctd14 T C 7: 97,107,431 (GRCm39) F229L probably benign Het
Kif27 A T 13: 58,436,025 (GRCm39) V1256E probably benign Het
Klk13 T C 7: 43,370,846 (GRCm39) S133P probably benign Het
Mpzl1 A G 1: 165,432,257 (GRCm39) V176A possibly damaging Het
Mxi1 A G 19: 53,360,066 (GRCm39) T263A possibly damaging Het
Nfxl1 C T 5: 72,716,595 (GRCm39) W5* probably null Het
Nt5dc1 C T 10: 34,200,450 (GRCm39) G190R probably damaging Het
Nt5dc1 C A 10: 34,200,449 (GRCm39) G190V probably damaging Het
Oprd1 A G 4: 131,844,492 (GRCm39) I172T possibly damaging Het
Or1f19 A T 16: 3,410,493 (GRCm39) T78S probably benign Het
Or4k38 A G 2: 111,165,737 (GRCm39) S229P probably benign Het
Or6f1 A G 7: 85,970,888 (GRCm39) S91P probably benign Het
Or7e173 C T 9: 19,939,230 (GRCm39) M1I probably null Het
Pafah1b1 A C 11: 74,576,740 (GRCm39) C184G probably damaging Het
Pde5a A T 3: 122,596,797 (GRCm39) N495Y possibly damaging Het
Piezo1 A T 8: 123,225,234 (GRCm39) Y588* probably null Het
Plekha7 A T 7: 115,736,403 (GRCm39) probably null Het
Pramel11 T C 4: 143,622,065 (GRCm39) D430G probably benign Het
Prdm11 T C 2: 92,805,669 (GRCm39) K427R probably benign Het
Rai14 C A 15: 10,571,622 (GRCm39) E940D probably benign Het
Rasl11b T A 5: 74,358,771 (GRCm39) V92E possibly damaging Het
Rassf8 T A 6: 145,765,757 (GRCm39) I29K unknown Het
Reg3a C T 6: 78,359,330 (GRCm39) T110I probably damaging Het
Scaf1 C T 7: 44,657,073 (GRCm39) G602D unknown Het
Senp6 T C 9: 80,029,199 (GRCm39) C521R probably damaging Het
Senp7 G A 16: 55,975,589 (GRCm39) V432I possibly damaging Het
Skint8 A T 4: 111,785,784 (GRCm39) R77* probably null Het
Slamf9 G A 1: 172,305,040 (GRCm39) C218Y probably damaging Het
Slc8a1 T C 17: 81,956,649 (GRCm39) T130A probably damaging Het
Smpdl3a A G 10: 57,678,574 (GRCm39) I126V possibly damaging Het
Taar9 T A 10: 23,984,843 (GRCm39) N197I possibly damaging Het
Tango6 A T 8: 107,423,359 (GRCm39) D378V possibly damaging Het
Tfb2m A G 1: 179,356,747 (GRCm39) F396L probably benign Het
Thbs4 G A 13: 92,903,729 (GRCm39) P429L probably benign Het
Tnxb A G 17: 34,934,747 (GRCm39) D2452G probably damaging Het
Ulk3 C T 9: 57,498,523 (GRCm39) R131* probably null Het
Vmn1r179 A T 7: 23,628,558 (GRCm39) R250* probably null Het
Vmn1r54 A G 6: 90,246,160 (GRCm39) I25V possibly damaging Het
Wnt7a C A 6: 91,371,395 (GRCm39) R189L probably benign Het
Wrap73 A G 4: 154,237,043 (GRCm39) D210G probably benign Het
Xpo6 G A 7: 125,701,505 (GRCm39) R1112* probably null Het
Zfp114 T A 7: 23,881,307 (GRCm39) V552D probably damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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
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'- GGGAAAATGTCCTTACGTCATTCC -3'
(R):5'- GCATGTGCGAGCAAAGTCTC -3'

Sequencing Primer
(F):5'- GTCATTCCCTGGCATCCCTGG -3'
(R):5'- CATACTTCTAGCCTCGGATAGTTGG -3'
Posted On 2019-10-07