Incidental Mutation 'R9777:Col19a1'
ID 733750
Institutional Source Beutler Lab
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Name collagen, type XIX, alpha 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9777 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 24300971-24626553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24318904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1062 (V1062A)
Ref Sequence ENSEMBL: ENSMUSP00000052606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]
AlphaFold Q0VF58
Predicted Effect unknown
Transcript: ENSMUST00000051344
AA Change: V1062A
SMART Domains Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: V1062A

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 benign
Transcript: ENSMUST00000115244
SMART Domains Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A C 10: 10,283,214 (GRCm39) M164R possibly damaging Het
Alg10b T A 15: 90,111,656 (GRCm39) C167S probably benign Het
Ap2m1 C A 16: 20,358,113 (GRCm39) R44S probably damaging Het
Atrip T C 9: 108,902,964 (GRCm39) S37G probably benign Het
Bicra C T 7: 15,705,987 (GRCm39) V1485M probably benign Het
Brca2 C T 5: 150,480,579 (GRCm39) T2755I probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Ccdc7a C T 8: 129,618,860 (GRCm39) A895T possibly damaging Het
Cep290 T C 10: 100,354,529 (GRCm39) M871T probably benign Het
Col24a1 T A 3: 145,021,103 (GRCm39) Y491* probably null Het
Cyp2c66 A T 19: 39,102,520 (GRCm39) I50F probably benign Het
Dbn1 C A 13: 55,625,639 (GRCm39) R261L probably benign Het
Dlat G A 9: 50,562,208 (GRCm39) A272V probably damaging Het
Dlgap3 A T 4: 127,130,127 (GRCm39) E967V possibly damaging Het
Dnhd1 A G 7: 105,369,456 (GRCm39) M4360V probably benign Het
Dock7 C T 4: 98,877,464 (GRCm39) R1058Q unknown Het
Dpp4 T A 2: 62,195,340 (GRCm39) I313F probably benign Het
Dus1l C T 11: 120,683,858 (GRCm39) V197I possibly damaging Het
Eef2k TATTCATTCATTCATTCATTCATTCATTCA TATTCATTCATTCATTCATTCATTCA 7: 120,499,453 (GRCm39) probably benign Het
Fat3 A G 9: 15,826,537 (GRCm39) S324P probably benign Het
Fkbp9 C T 6: 56,855,181 (GRCm39) H567Y possibly damaging Het
Galnt10 C A 11: 57,672,065 (GRCm39) P452T probably damaging Het
Glb1 A T 9: 114,246,084 (GRCm39) D45V probably damaging Het
Grm1 A T 10: 10,573,826 (GRCm39) V904E possibly damaging Het
Gsdma3 T G 11: 98,526,071 (GRCm39) V274G probably damaging Het
Gsn A G 2: 35,194,600 (GRCm39) E681G probably damaging Het
Hpdl A G 4: 116,678,062 (GRCm39) L133P probably damaging Het
Ighv1-75 A G 12: 115,797,655 (GRCm39) L89P probably damaging Het
Igsf21 T A 4: 139,755,407 (GRCm39) Q416L probably damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Ildr1 A G 16: 36,528,659 (GRCm39) T35A probably benign Het
Ints13 G T 6: 146,463,326 (GRCm39) H235Q probably damaging Het
Lama4 C T 10: 38,924,101 (GRCm39) T503I probably benign Het
Mapk13 T A 17: 28,997,075 (GRCm39) L289Q probably damaging Het
Med13l T C 5: 118,887,024 (GRCm39) S1642P probably benign Het
Megf6 T A 4: 154,343,617 (GRCm39) S713R probably damaging Het
Mical3 A G 6: 120,959,529 (GRCm39) V922A possibly damaging Het
Mug1 C T 6: 121,857,864 (GRCm39) T1119M probably damaging Het
Myo18a T A 11: 77,733,080 (GRCm39) M1370K possibly damaging Het
Ndufa12 A G 10: 94,056,692 (GRCm39) E140G probably damaging Het
Nek4 T A 14: 30,706,401 (GRCm39) D696E probably benign Het
Oas1f A G 5: 120,994,429 (GRCm39) T317A probably benign Het
Or14c39 T C 7: 86,343,988 (GRCm39) V108A probably benign Het
Or2r11 A G 6: 42,437,029 (GRCm39) I308T probably benign Het
Or6c210 T C 10: 129,495,705 (GRCm39) I10T probably benign Het
Pcdh17 C T 14: 84,683,683 (GRCm39) P50L probably benign Het
Pgs1 A G 11: 117,894,256 (GRCm39) E261G probably benign Het
Pira12 T G 7: 3,897,612 (GRCm39) R494S probably damaging Het
Ppp1r1a T C 15: 103,439,857 (GRCm39) E145G possibly damaging Het
Ppp1r37 T C 7: 19,295,783 (GRCm39) E58G probably benign Het
Ptprc A T 1: 138,047,901 (GRCm39) V77E Het
Rhag A G 17: 41,139,416 (GRCm39) E117G probably benign Het
Sh3d19 C T 3: 86,028,483 (GRCm39) S653L probably benign Het
Sirpd C A 3: 15,385,813 (GRCm39) E30* probably null Het
Slc35a5 C T 16: 44,972,939 (GRCm39) probably null Het
Smc4 C T 3: 68,929,655 (GRCm39) R510* probably null Het
Sorcs1 A G 19: 50,248,190 (GRCm39) probably null Het
Sp140 A G 1: 85,569,461 (GRCm39) N357S probably damaging Het
Spic T A 10: 88,514,421 (GRCm39) T60S possibly damaging Het
Steap1 C A 5: 5,786,517 (GRCm39) A307S probably benign Het
Stk3 A T 15: 35,114,791 (GRCm39) S40R probably damaging Het
Taar1 T C 10: 23,796,676 (GRCm39) C125R probably damaging Het
Tep1 T A 14: 51,076,443 (GRCm39) K1664* probably null Het
Tmem198b C A 10: 128,638,273 (GRCm39) V97L possibly damaging Het
Xirp2 C A 2: 67,347,379 (GRCm39) P3207T possibly damaging Het
Zbtb38 C G 9: 96,570,355 (GRCm39) S243T possibly damaging Het
Zbtb38 T A 9: 96,570,356 (GRCm39) S243C probably damaging Het
Zfp692 C T 11: 58,199,638 (GRCm39) R76W probably benign Het
Zwilch A T 9: 64,054,170 (GRCm39) L509H 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
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
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
Z1088:Col19a1 UTSW 1 24,319,021 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATCAATCCAGCATCTCCC -3'
(R):5'- TTCTTCCTGTAGGCTGATGC -3'

Sequencing Primer
(F):5'- GAGCTAGATGTACTTACTCTATAGGG -3'
(R):5'- CCTGTAGGCTGATGCTGTTTC -3'
Posted On 2022-11-14