Incidental Mutation 'R7292:Col19a1'
ID 566457
Institutional Source Beutler Lab
Gene Symbol Col19a1
Ensembl Gene ENSMUSG00000026141
Gene Name collagen, type XIX, alpha 1
Synonyms
MMRRC Submission 045397-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7292 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 24300971-24626553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24569089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 220 (I220F)
Ref Sequence ENSEMBL: ENSMUSP00000110899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051344] [ENSMUST00000115244]
AlphaFold Q0VF58
Predicted Effect unknown
Transcript: ENSMUST00000051344
AA Change: I220F
SMART Domains Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: I220F

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: I220F
SMART Domains Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: I220F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,215,861 (GRCm39) C322* probably null Het
4930553M12Rik G A 4: 88,786,568 (GRCm39) R17C unknown Het
Abcc8 G A 7: 45,784,950 (GRCm39) T726I probably benign Het
Adamts18 T C 8: 114,436,277 (GRCm39) T981A probably benign Het
Adgrb3 A G 1: 25,570,957 (GRCm39) C507R probably damaging Het
Bloc1s6 T A 2: 122,584,615 (GRCm39) D63E probably damaging Het
Cdc25b C T 2: 131,033,093 (GRCm39) R135W probably damaging Het
Cdca2 G T 14: 67,915,326 (GRCm39) Y644* probably null Het
Ceacam10 G T 7: 24,477,775 (GRCm39) G97C probably damaging Het
Cenpf G A 1: 189,382,891 (GRCm39) L2668F probably damaging Het
Cog4 A G 8: 111,608,460 (GRCm39) D774G probably damaging Het
Col11a2 G A 17: 34,270,482 (GRCm39) G511E unknown Het
Cubn G T 2: 13,429,550 (GRCm39) T1317K probably damaging Het
Dnaaf5 T C 5: 139,136,072 (GRCm39) L24P unknown Het
Eif4a3l2 G A 6: 116,528,438 (GRCm39) R105Q probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Foxn4 C A 5: 114,396,716 (GRCm39) E256* probably null Het
Gm5930 A G 14: 44,574,014 (GRCm39) S108P probably damaging Het
Gnl3 A G 14: 30,735,189 (GRCm39) S468P probably benign Het
Gzmb A T 14: 56,499,576 (GRCm39) S11T probably benign Het
Hmcn1 T C 1: 150,608,880 (GRCm39) probably null Het
Ifi206 A G 1: 173,301,428 (GRCm39) L750P unknown Het
Ifi213 T A 1: 173,422,691 (GRCm39) E58V probably damaging Het
Igkv4-78 A T 6: 69,036,752 (GRCm39) Y94N probably damaging Het
Igsf9 G T 1: 172,319,324 (GRCm39) probably null Het
Itpr2 G T 6: 146,060,447 (GRCm39) L2490M possibly damaging Het
Kdm2b A G 5: 123,018,854 (GRCm39) F862S probably damaging Het
Kif19b A G 5: 140,457,425 (GRCm39) D398G probably benign Het
Meis1 A G 11: 18,961,351 (GRCm39) I174T probably damaging Het
Micu3 A G 8: 40,835,166 (GRCm39) Q507R probably benign Het
Mpp4 C T 1: 59,182,969 (GRCm39) E313K possibly damaging Het
Nfatc4 G A 14: 56,062,512 (GRCm39) E7K probably damaging Het
Or7g16 A T 9: 18,727,486 (GRCm39) Y35N probably damaging Het
Or9s18 T A 13: 65,300,656 (GRCm39) V206D possibly damaging Het
Osbpl5 G A 7: 143,255,015 (GRCm39) P470S probably damaging Het
Pak6 A G 2: 118,524,072 (GRCm39) D409G possibly damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,361,986 (GRCm39) M553K probably benign Het
Ppp2r3d T C 9: 101,089,871 (GRCm39) N151D probably damaging Het
Prdm12 T C 2: 31,533,862 (GRCm39) W160R probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prl2a1 A G 13: 27,991,353 (GRCm39) probably null Het
Prob1 G A 18: 35,787,603 (GRCm39) P217L possibly damaging Het
Ramp1 A C 1: 91,124,499 (GRCm39) H20P probably benign Het
Rbm47 T A 5: 66,184,093 (GRCm39) E170V possibly damaging Het
Relch G T 1: 105,649,141 (GRCm39) probably null Het
Rpn1 C T 6: 88,067,066 (GRCm39) P142L probably damaging Het
Rsu1 C T 2: 13,174,827 (GRCm39) R238H probably damaging Het
Sh3rf3 C T 10: 58,907,795 (GRCm39) P441L probably damaging Het
Slc1a6 A G 10: 78,650,438 (GRCm39) S559G possibly damaging Het
Slc35f5 C A 1: 125,500,222 (GRCm39) S245R probably damaging Het
Spcs3 T C 8: 54,979,554 (GRCm39) N76D probably benign Het
Spmip5 A T 19: 58,777,539 (GRCm39) Y90* probably null Het
Svep1 T C 4: 58,111,395 (GRCm39) T1075A possibly damaging Het
Sympk A T 7: 18,769,955 (GRCm39) I211F probably benign Het
Tk1 C T 11: 117,716,603 (GRCm39) M1I probably null Het
Tln2 A G 9: 67,253,743 (GRCm39) V776A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tnk2 T C 16: 32,499,618 (GRCm39) V977A probably benign Het
Toporsl A T 4: 52,611,630 (GRCm39) S508C probably benign Het
Trank1 A C 9: 111,206,938 (GRCm39) R1690S probably benign Het
Trio T A 15: 27,828,437 (GRCm39) Q1409L possibly damaging Het
Vit T C 17: 78,912,927 (GRCm39) F287L probably benign Het
Vmn2r109 G C 17: 20,761,700 (GRCm39) D552E probably benign Het
Zw10 T C 9: 48,972,491 (GRCm39) V186A 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
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
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'- TGCTTCACAAAGTCCTACACATAG -3'
(R):5'- ACAGTTAGCCAAGCTTTGCC -3'

Sequencing Primer
(F):5'- TAGAACCTACAGATGACGAATGC -3'
(R):5'- CTGTAGCTGTTTCTCAAGTAATCC -3'
Posted On 2019-06-26