Incidental Mutation 'R5996:Col19a1'
ID 481100
Institutional Source Beutler Lab
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Name collagen, type XIX, alpha 1
Synonyms
MMRRC Submission 044175-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5996 (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 24367152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 477 (G477R)
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: G477R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: G477R

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: G477R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: G477R

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
Meta Mutation Damage Score 0.2135 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 97% (69/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A G 11: 23,468,928 (GRCm39) M1T probably null Het
A2m T A 6: 121,636,353 (GRCm39) W741R probably damaging Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acan A G 7: 78,761,068 (GRCm39) T1927A probably damaging Het
Agbl4 A G 4: 110,812,869 (GRCm39) probably null Het
Bltp1 T C 3: 36,985,265 (GRCm39) F865S probably benign Het
Ccr8 T A 9: 119,923,529 (GRCm39) C215S probably damaging Het
Cd209b T C 8: 3,968,688 (GRCm39) T314A probably benign Het
Cd244a T G 1: 171,409,208 (GRCm39) probably null Het
Cdh23 T C 10: 60,249,356 (GRCm39) E849G possibly damaging Het
Cep57 A G 9: 13,721,175 (GRCm39) V268A probably damaging Het
Clip4 T C 17: 72,163,305 (GRCm39) S626P probably damaging Het
Col4a4 T C 1: 82,433,449 (GRCm39) D1498G unknown Het
Coro6 T C 11: 77,357,322 (GRCm39) V177A probably benign Het
Crip3 T C 17: 46,742,210 (GRCm39) S202P possibly damaging Het
Cxcr2 T C 1: 74,197,619 (GRCm39) C38R probably damaging Het
Cyp4f13 C T 17: 33,148,447 (GRCm39) G327R possibly damaging Het
Dab2 C T 15: 6,464,792 (GRCm39) Q415* probably null Het
Dennd5b A G 6: 148,969,593 (GRCm39) F287L probably benign Het
Dlg4 G A 11: 69,908,057 (GRCm39) R6K probably benign Het
Edc4 A G 8: 106,614,033 (GRCm39) K429E probably damaging Het
Fam107b T A 2: 3,780,667 (GRCm39) probably null Het
Flt4 A T 11: 49,541,897 (GRCm39) D1360V probably damaging Het
Gm1043 A T 5: 37,317,168 (GRCm39) probably benign Het
Gm4894 A T 9: 49,189,970 (GRCm39) I82L unknown Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gpr176 A C 2: 118,114,385 (GRCm39) probably null Het
Gtse1 T C 15: 85,748,381 (GRCm39) L262P probably benign Het
Il4ra T C 7: 125,166,393 (GRCm39) W46R probably damaging Het
Itga11 A G 9: 62,662,955 (GRCm39) Y557C probably benign Het
Kcnab2 A C 4: 152,519,287 (GRCm39) probably null Het
Kcnh7 G A 2: 63,014,441 (GRCm39) probably benign Het
Ly9 T A 1: 171,429,396 (GRCm39) Q230L probably damaging Het
Map2 C A 1: 66,454,043 (GRCm39) H978N possibly damaging Het
Map2k6 A G 11: 110,388,732 (GRCm39) I225V possibly damaging Het
Map3k13 A G 16: 21,723,995 (GRCm39) N326D possibly damaging Het
Mdga2 A G 12: 66,844,537 (GRCm39) F85L probably benign Het
Mmp13 C T 9: 7,274,269 (GRCm39) P192L probably damaging Het
Mrpl37 T C 4: 106,923,704 (GRCm39) T97A probably benign Het
Mycbpap C T 11: 94,404,420 (GRCm39) G121D probably benign Het
Nabp1 A G 1: 51,510,544 (GRCm39) S153P probably benign Het
Nsun3 A T 16: 62,590,049 (GRCm39) F222I probably benign Het
Or4q3 A G 14: 50,582,969 (GRCm39) V310A possibly damaging Het
Pcdhga4 A T 18: 37,818,991 (GRCm39) D180V probably benign Het
Pex6 C A 17: 47,025,384 (GRCm39) probably null Het
Phrf1 C A 7: 140,839,015 (GRCm39) probably benign Het
Ppp1r36 A G 12: 76,485,936 (GRCm39) T365A possibly damaging Het
Ranbp10 A G 8: 106,499,672 (GRCm39) M519T probably benign Het
Rfx4 G A 10: 84,675,881 (GRCm39) W32* probably null Het
Ryr1 T C 7: 28,723,666 (GRCm39) N4131S probably benign Het
Slc27a6 A G 18: 58,745,306 (GRCm39) E580G possibly damaging Het
Slc7a14 T C 3: 31,263,385 (GRCm39) D719G probably benign Het
Slfn9 A G 11: 82,878,310 (GRCm39) I273T possibly damaging Het
Spice1 A G 16: 44,205,037 (GRCm39) E781G probably benign Het
Sspo C T 6: 48,471,110 (GRCm39) P4686S possibly damaging Het
Stab1 G T 14: 30,861,508 (GRCm39) R2500S probably benign Het
Stox2 A T 8: 47,656,182 (GRCm39) M98K possibly damaging Het
Tacc2 T C 7: 130,225,213 (GRCm39) S633P probably damaging Het
Tex51 G T 18: 32,595,545 (GRCm39) probably benign Het
Tm9sf4 T C 2: 153,037,491 (GRCm39) probably null Het
Togaram2 T A 17: 72,011,778 (GRCm39) F486I probably damaging Het
Trappc12 A G 12: 28,797,113 (GRCm39) S140P possibly damaging Het
Ttc29 A T 8: 79,003,525 (GRCm39) N247I probably damaging Het
Uso1 A T 5: 92,340,589 (GRCm39) E668D probably benign Het
Vmn2r69 A T 7: 85,061,117 (GRCm39) probably null Het
Xirp2 T A 2: 67,341,994 (GRCm39) L1412I possibly damaging Het
Xrcc5 T A 1: 72,349,617 (GRCm39) D15E probably damaging Het
Zfp661 T C 2: 127,418,968 (GRCm39) K391E probably damaging Het
Zfp729b A G 13: 67,741,977 (GRCm39) I106T probably benign Het
Zfyve9 A C 4: 108,576,557 (GRCm39) S175A 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
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
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'- TCACATGGTAGCACTTATCAAGG -3'
(R):5'- TCCGATGAGTGTATCCATCTTC -3'

Sequencing Primer
(F):5'- GTATTAGGCGCCAGACAA -3'
(R):5'- CACAATCAGAAGTTTTAGCCCTGGG -3'
Posted On 2017-06-26