Incidental Mutation 'IGL01608:Col19a1'
ID91848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Namecollagen, type XIX, alpha 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01608
Quality Score
Status
Chromosome1
Chromosomal Location24261890-24587472 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 24282545 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 961 (R961C)
Ref Sequence ENSEMBL: ENSMUSP00000110899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]
Predicted Effect probably damaging
Transcript: ENSMUST00000051344
AA Change: R961C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: R961C

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: R961C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: R961C

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732456N10Rik A G 15: 101,562,629 I66T probably benign Het
Abca1 A T 4: 53,038,158 L2068Q probably damaging Het
Abca12 G T 1: 71,259,442 D2340E probably damaging Het
Adcy5 A G 16: 35,272,165 Y632C probably damaging Het
Adgrb3 A G 1: 25,553,774 S311P probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
AF529169 T C 9: 89,596,498 T832A probably benign Het
Atf2 G T 2: 73,819,078 H396Q probably damaging Het
Atp8a1 G A 5: 67,813,136 R74* probably null Het
Brpf3 T C 17: 28,821,517 S971P probably benign Het
Btn1a1 T C 13: 23,461,608 E197G probably benign Het
Ccdc136 C T 6: 29,406,114 A87V possibly damaging Het
Celf4 A G 18: 25,497,503 L376P probably damaging Het
Chrm3 G A 13: 9,878,598 A134V possibly damaging Het
Cr2 A G 1: 195,155,220 V1190A possibly damaging Het
Dopey1 T A 9: 86,507,561 S515T probably benign Het
Eprs T A 1: 185,385,114 probably benign Het
Fbn2 G T 18: 58,053,704 Y1708* probably null Het
Glt1d1 A G 5: 127,664,682 N148S possibly damaging Het
Gm20425 T A 9: 103,191,094 I44F probably damaging Het
Gpr22 T A 12: 31,708,780 K411* probably null Het
Ipo11 A G 13: 106,834,494 probably benign Het
Klri1 T A 6: 129,698,167 N210I possibly damaging Het
Kmt2c C T 5: 25,354,811 V950M probably damaging Het
Knop1 T C 7: 118,845,796 K315R probably benign Het
Lrrc32 T A 7: 98,499,357 V448D probably benign Het
Met T C 6: 17,558,730 V1119A probably damaging Het
Mipep T A 14: 60,802,230 I236N possibly damaging Het
Mrpl45 A G 11: 97,316,921 T81A probably benign Het
Mtbp G T 15: 55,557,689 E24* probably null Het
Muc5b C T 7: 141,846,437 T476I unknown Het
Mup6 C T 4: 60,006,021 T163I probably benign Het
Myo1g T A 11: 6,516,780 I278F possibly damaging Het
Myo9a A T 9: 59,870,836 K1292* probably null Het
Nbeal1 T A 1: 60,242,535 probably benign Het
Nck1 C A 9: 100,497,387 R270S probably benign Het
Neb T C 2: 52,170,536 E6035G probably damaging Het
Nlrp4f A C 13: 65,195,543 L96* probably null Het
Olfr1250 A T 2: 89,656,491 probably benign Het
Olfr141 A C 2: 86,806,425 Y191* probably null Het
Olfr606 A T 7: 103,451,804 I156F probably benign Het
Olfr738 A T 14: 50,414,453 H303L probably benign Het
Padi2 A G 4: 140,932,230 E282G probably damaging Het
Pcdhb4 A G 18: 37,308,750 D371G probably damaging Het
Pcdhb8 A G 18: 37,356,925 D552G probably damaging Het
Peli3 A G 19: 4,932,827 I270T probably damaging Het
Phf20 A G 2: 156,276,596 M407V probably benign Het
Ppm1h C T 10: 122,941,280 R103* probably null Het
Rangap1 C T 15: 81,709,504 V457M probably benign Het
Scube2 A G 7: 109,843,254 V257A probably benign Het
Shc1 C A 3: 89,424,849 Q204K probably damaging Het
Slc6a4 T A 11: 77,027,135 Y568N probably damaging Het
Srgap3 A G 6: 112,946,478 F7L probably benign Het
St6galnac4 T A 2: 32,594,086 C99S probably damaging Het
Strc T C 2: 121,375,594 D779G probably benign Het
Supt6 A T 11: 78,225,483 Y685N probably damaging Het
Traf3ip3 T C 1: 193,187,110 T256A probably benign Het
Vmn1r74 A T 7: 11,847,633 I287F probably damaging Het
Zmym2 C A 14: 56,948,015 Q1035K possibly damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in Col19a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Col19a1 APN 1 24561306 missense unknown
IGL00514:Col19a1 APN 1 24536932 missense unknown
IGL00756:Col19a1 APN 1 24322942 missense possibly damaging 0.85
IGL01408:Col19a1 APN 1 24306250 splice site probably benign
IGL01664:Col19a1 APN 1 24561335 missense unknown
IGL01906:Col19a1 APN 1 24317429 missense probably damaging 1.00
IGL01916:Col19a1 APN 1 24534241 missense unknown
IGL02040:Col19a1 APN 1 24312045 critical splice donor site probably null
IGL02407:Col19a1 APN 1 24312372 splice site probably null
IGL02505:Col19a1 APN 1 24300584 splice site probably benign
IGL02606:Col19a1 APN 1 24534116 nonsense probably null
IGL02659:Col19a1 APN 1 24534034 missense unknown
IGL02815:Col19a1 APN 1 24285251 splice site probably null
IGL02880:Col19a1 APN 1 24325973 splice site probably benign
IGL02897:Col19a1 APN 1 24534098 missense unknown
IGL03102:Col19a1 APN 1 24328053 missense probably damaging 1.00
R0038:Col19a1 UTSW 1 24559744 missense unknown
R0109:Col19a1 UTSW 1 24559768 splice site probably null
R0124:Col19a1 UTSW 1 24526458 missense unknown
R0326:Col19a1 UTSW 1 24285051 critical splice donor site probably null
R0390:Col19a1 UTSW 1 24289655 splice site probably benign
R0675:Col19a1 UTSW 1 24575455 start gained probably benign
R0826:Col19a1 UTSW 1 24526386 missense unknown
R0948:Col19a1 UTSW 1 24296801 missense probably damaging 0.98
R1014:Col19a1 UTSW 1 24301273 critical splice donor site probably null
R1619:Col19a1 UTSW 1 24534091 missense unknown
R1691:Col19a1 UTSW 1 24536941 missense unknown
R1878:Col19a1 UTSW 1 24317395 missense probably benign 0.40
R1901:Col19a1 UTSW 1 24536997 missense unknown
R1928:Col19a1 UTSW 1 24451754 splice site probably benign
R1940:Col19a1 UTSW 1 24264750 nonsense probably null
R2015:Col19a1 UTSW 1 24559753 missense unknown
R2571:Col19a1 UTSW 1 24374631 missense unknown
R2844:Col19a1 UTSW 1 24559681 missense unknown
R2845:Col19a1 UTSW 1 24559681 missense unknown
R3107:Col19a1 UTSW 1 24337936 missense possibly damaging 0.71
R3861:Col19a1 UTSW 1 24326017 missense probably damaging 1.00
R3872:Col19a1 UTSW 1 24575327 splice site probably benign
R4180:Col19a1 UTSW 1 24270392 missense probably damaging 1.00
R4195:Col19a1 UTSW 1 24534052 missense unknown
R4196:Col19a1 UTSW 1 24534052 missense unknown
R4234:Col19a1 UTSW 1 24315395 splice site probably null
R4250:Col19a1 UTSW 1 24525645 missense unknown
R4396:Col19a1 UTSW 1 24510866 missense unknown
R4405:Col19a1 UTSW 1 24534109 missense unknown
R4450:Col19a1 UTSW 1 24322035 missense probably damaging 0.96
R4583:Col19a1 UTSW 1 24561329 missense unknown
R4980:Col19a1 UTSW 1 24526483 missense unknown
R5222:Col19a1 UTSW 1 24559640 splice site probably null
R5407:Col19a1 UTSW 1 24303494 missense probably damaging 0.99
R5439:Col19a1 UTSW 1 24293112 missense probably damaging 1.00
R5739:Col19a1 UTSW 1 24337915 missense probably damaging 1.00
R5740:Col19a1 UTSW 1 24337915 missense probably damaging 1.00
R5891:Col19a1 UTSW 1 24289725 missense probably damaging 1.00
R5996:Col19a1 UTSW 1 24328071 missense probably damaging 1.00
R6074:Col19a1 UTSW 1 24526483 missense unknown
R6152:Col19a1 UTSW 1 24374621 missense unknown
R6191:Col19a1 UTSW 1 24317393 missense probably damaging 1.00
R6236:Col19a1 UTSW 1 24279949 missense probably damaging 1.00
R6315:Col19a1 UTSW 1 24526452 missense unknown
R6709:Col19a1 UTSW 1 24282496 missense probably damaging 1.00
R6748:Col19a1 UTSW 1 24534070 missense unknown
R7098:Col19a1 UTSW 1 24526474 missense unknown
R7114:Col19a1 UTSW 1 24337936 missense possibly damaging 0.71
R7292:Col19a1 UTSW 1 24530008 missense unknown
R7392:Col19a1 UTSW 1 24534034 missense unknown
R7478:Col19a1 UTSW 1 24317707 missense probably damaging 1.00
R7480:Col19a1 UTSW 1 24317707 missense probably damaging 1.00
R7481:Col19a1 UTSW 1 24317707 missense probably damaging 1.00
Z1088:Col19a1 UTSW 1 24279940 missense probably damaging 1.00
Posted On2013-12-09