Incidental Mutation 'R4405:Col19a1'
ID 327581
Institutional Source Beutler Lab
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Name collagen, type XIX, alpha 1
Synonyms
MMRRC Submission 041134-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4405 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 24300971-24626553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24573190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 194 (T194M)
Ref Sequence ENSEMBL: ENSMUSP00000110899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]
AlphaFold Q0VF58
Predicted Effect unknown
Transcript: ENSMUST00000051344
AA Change: T194M
SMART Domains Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: T194M

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: T194M
SMART Domains Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: T194M

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 C T 8: 95,763,536 (GRCm39) A279V probably benign Het
Aggf1 G A 13: 95,508,102 (GRCm39) P88L probably benign Het
Asb18 T C 1: 89,896,411 (GRCm39) T210A probably benign Het
Cd8b1 C T 6: 71,303,006 (GRCm39) S27L possibly damaging Het
Cfap43 C T 19: 47,728,236 (GRCm39) S1507N possibly damaging Het
Col12a1 A T 9: 79,547,247 (GRCm39) probably null Het
Cpb1 T A 3: 20,317,733 (GRCm39) T237S probably benign Het
Cubn G A 2: 13,470,841 (GRCm39) T517M probably damaging Het
Dnah6 T C 6: 73,106,274 (GRCm39) N1769S probably benign Het
Dnm1 A G 2: 32,225,984 (GRCm39) I365T probably damaging Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Etv6 A G 6: 134,210,497 (GRCm39) E115G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gapvd1 C T 2: 34,618,747 (GRCm39) V209I probably damaging Het
Gbp8 G A 5: 105,198,928 (GRCm39) probably benign Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Grb14 T C 2: 64,783,966 (GRCm39) N54D probably damaging Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
Herc2 T A 7: 55,820,225 (GRCm39) L2849Q probably damaging Het
Hsd17b4 G T 18: 50,261,381 (GRCm39) probably benign Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Iqcd A T 5: 120,740,485 (GRCm39) E272V probably damaging Het
Itih2 A T 2: 10,111,548 (GRCm39) Y463* probably null Het
Kcna10 G A 3: 107,102,781 (GRCm39) E471K possibly damaging Het
Klf3 A T 5: 64,986,347 (GRCm39) E294V possibly damaging Het
Lancl1 A T 1: 67,060,015 (GRCm39) probably null Het
Ldaf1 T G 7: 119,714,714 (GRCm39) F68V probably damaging Het
Lrig3 T C 10: 125,846,877 (GRCm39) F882L probably benign Het
Man2c1 A G 9: 57,046,367 (GRCm39) N474S probably damaging Het
Map4k3 A G 17: 80,922,444 (GRCm39) probably null Het
Mast1 C A 8: 85,647,520 (GRCm39) W572C probably damaging Het
Mbd4 T A 6: 115,826,076 (GRCm39) Q305L possibly damaging Het
Mbl2 T A 19: 30,216,916 (GRCm39) S243T probably benign Het
Mcph1 C T 8: 18,682,557 (GRCm39) P565S probably benign Het
Mfsd1 G C 3: 67,507,943 (GRCm39) V435L probably benign Het
Mycbp2 C T 14: 103,360,881 (GRCm39) G1183D probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Noa1 A T 5: 77,454,219 (GRCm39) S474T probably benign Het
Nrde2 A G 12: 100,096,843 (GRCm39) Y986H probably benign Het
Oca2 G T 7: 56,064,182 (GRCm39) V726F possibly damaging Het
Or2ag13 T A 7: 106,472,580 (GRCm39) S291C probably damaging Het
Or7a41 A T 10: 78,871,244 (GRCm39) M205L probably benign Het
Pip5k1a A G 3: 94,975,370 (GRCm39) probably null Het
Plekhn1 A T 4: 156,309,730 (GRCm39) probably null Het
Sec61a2 T C 2: 5,887,670 (GRCm39) D104G probably benign Het
Skic3 A T 13: 76,303,784 (GRCm39) Y1234F probably damaging Het
Slc25a36 T C 9: 96,967,171 (GRCm39) T131A probably benign Het
Slc5a11 A T 7: 122,857,700 (GRCm39) D263V probably damaging Het
Sorbs1 T C 19: 40,384,189 (GRCm39) I35V probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tbc1d1 T C 5: 64,331,013 (GRCm39) V64A possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r20 A G 6: 57,409,042 (GRCm39) M123V probably benign Het
Zwint T C 10: 72,492,095 (GRCm39) L59P 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
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
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'- ATTCTCAGACCCAGGAGTCAC -3'
(R):5'- ACGAAGATGTTCTCCTTATCTGTC -3'

Sequencing Primer
(F):5'- CCCAGGAGTCACTGTTGTAAG -3'
(R):5'- ATCTGTAGTGATTGATGGTACGAAG -3'
Posted On 2015-07-07