Incidental Mutation 'R9113:Col14a1'
ID 692376
Institutional Source Beutler Lab
Gene Symbol Col14a1
Ensembl Gene ENSMUSG00000022371
Gene Name collagen, type XIV, alpha 1
Synonyms 5730412L22Rik
MMRRC Submission 068920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9113 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 55171146-55384199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55201825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 38 (Y38H)
Ref Sequence ENSEMBL: ENSMUSP00000105850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023053] [ENSMUST00000110217] [ENSMUST00000110221]
AlphaFold Q80X19
Predicted Effect unknown
Transcript: ENSMUST00000023053
AA Change: Y38H
SMART Domains Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: Y38H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
FN3 30 108 5.4e-7 SMART
low complexity region 122 136 N/A INTRINSIC
VWA 157 336 9.5e-56 SMART
FN3 354 434 3.82e-7 SMART
FN3 444 522 3.1e-7 SMART
FN3 536 613 5.07e-12 SMART
FN3 625 704 3.1e-7 SMART
FN3 736 818 6.2e-7 SMART
FN3 830 909 1.45e-7 SMART
FN3 920 999 3.59e0 SMART
low complexity region 1010 1022 N/A INTRINSIC
VWA 1031 1211 2.02e-59 SMART
TSPN 1230 1425 1.19e-66 SMART
Pfam:Collagen 1461 1515 2.9e-8 PFAM
Pfam:Collagen 1513 1571 6.3e-9 PFAM
Pfam:Collagen 1555 1615 8.5e-10 PFAM
Pfam:Collagen 1653 1709 7.6e-10 PFAM
Pfam:Collagen 1707 1762 2.6e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000110217
AA Change: Y38H
SMART Domains Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: Y38H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
FN3 30 108 5.4e-7 SMART
low complexity region 122 136 N/A INTRINSIC
VWA 157 336 9.5e-56 SMART
FN3 354 434 3.82e-7 SMART
FN3 444 522 3.1e-7 SMART
FN3 536 613 5.07e-12 SMART
FN3 625 704 3.1e-7 SMART
FN3 736 819 5.4e-7 SMART
FN3 831 910 1.45e-7 SMART
FN3 921 1000 3.59e0 SMART
low complexity region 1011 1023 N/A INTRINSIC
VWA 1032 1212 2.02e-59 SMART
TSPN 1231 1426 1.19e-66 SMART
Pfam:Collagen 1462 1516 2.5e-8 PFAM
Pfam:Collagen 1514 1572 5.4e-9 PFAM
Pfam:Collagen 1556 1616 7.3e-10 PFAM
Pfam:Collagen 1654 1710 6.5e-10 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000110221
AA Change: Y38H
SMART Domains Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: Y38H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
FN3 30 108 5.4e-7 SMART
low complexity region 122 136 N/A INTRINSIC
VWA 157 336 9.5e-56 SMART
FN3 354 434 3.82e-7 SMART
FN3 444 522 3.1e-7 SMART
FN3 536 613 5.07e-12 SMART
FN3 625 704 3.1e-7 SMART
FN3 736 815 7.12e-7 SMART
FN3 827 906 1.45e-7 SMART
FN3 917 996 3.59e0 SMART
low complexity region 1007 1019 N/A INTRINSIC
VWA 1028 1208 2.02e-59 SMART
TSPN 1227 1422 1.19e-66 SMART
Pfam:Collagen 1458 1512 8.2e-9 PFAM
Pfam:Collagen 1510 1568 1.8e-9 PFAM
Pfam:Collagen 1552 1612 2.4e-10 PFAM
Pfam:Collagen 1650 1706 2.2e-10 PFAM
Pfam:Collagen 1704 1759 7.5e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (50/50)
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 XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,591,656 (GRCm39) I791F probably damaging Het
Adamts15 A G 9: 30,822,498 (GRCm39) M389T probably damaging Het
Adgrb2 G A 4: 129,910,877 (GRCm39) V1065M probably damaging Het
Agbl1 C A 7: 76,239,225 (GRCm39) A827E unknown Het
Alox5ap T C 5: 149,216,015 (GRCm39) F67S probably damaging Het
Ankrd11 T C 8: 123,614,072 (GRCm39) N2566S possibly damaging Het
Arhgap10 T C 8: 77,985,701 (GRCm39) D722G probably damaging Het
Atp5mf A G 5: 145,128,315 (GRCm39) L4P probably benign Het
Bean1 T C 8: 104,940,557 (GRCm39) V130A probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdhr2 A G 13: 54,882,700 (GRCm39) D1222G probably benign Het
Chrm4 T A 2: 91,758,075 (GRCm39) V161E probably benign Het
Ckap5 T C 2: 91,426,144 (GRCm39) S1335P probably damaging Het
Col11a1 T A 3: 113,888,192 (GRCm39) Y267* probably null Het
Coro2a C T 4: 46,563,047 (GRCm39) G36S Het
Ctsc A T 7: 87,959,104 (GRCm39) K461N possibly damaging Het
Dcaf1 A G 9: 106,712,831 (GRCm39) probably benign Het
Dnah9 A G 11: 65,880,713 (GRCm39) I2628T probably damaging Het
Dnajb5 T C 4: 42,953,233 (GRCm39) I20T probably damaging Het
Dus2 C T 8: 106,775,333 (GRCm39) Q287* probably null Het
Fbxl17 A G 17: 63,532,085 (GRCm39) V586A probably benign Het
Glg1 A T 8: 111,887,452 (GRCm39) probably benign Het
Gm4924 G A 10: 82,214,113 (GRCm39) C637Y unknown Het
Gorasp1 A G 9: 119,757,442 (GRCm39) F310S probably damaging Het
Gsta5 A T 9: 78,212,667 (GRCm39) I213F probably benign Het
Igfn1 G A 1: 135,883,328 (GRCm39) T2726I probably damaging Het
Inppl1 G T 7: 101,475,231 (GRCm39) P940Q probably benign Het
Klk1b22 G A 7: 43,765,692 (GRCm39) V183M possibly damaging Het
Krt12 A G 11: 99,309,378 (GRCm39) M294T probably damaging Het
Krtap6-2 GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA 16: 89,216,613 (GRCm39) probably benign Het
Lep T C 6: 29,071,093 (GRCm39) L139P probably damaging Het
Ltn1 T C 16: 87,224,532 (GRCm39) D64G probably damaging Het
Lyzl1 C T 18: 4,168,604 (GRCm39) A28V probably null Het
Mcam T C 9: 44,051,693 (GRCm39) V483A probably benign Het
Mia2 C T 12: 59,217,053 (GRCm39) probably benign Het
Mzf1 T A 7: 12,778,279 (GRCm39) H454L probably damaging Het
Pde10a A G 17: 9,197,782 (GRCm39) T742A probably benign Het
Rapgef4 A G 2: 71,861,493 (GRCm39) Y61C probably benign Het
Ryr2 A T 13: 11,618,741 (GRCm39) probably benign Het
Setbp1 G T 18: 78,900,948 (GRCm39) H906Q probably damaging Het
Slc12a4 A G 8: 106,670,984 (GRCm39) V1032A probably benign Het
Slc6a15 T C 10: 103,236,140 (GRCm39) M285T probably damaging Het
Spata31h1 G A 10: 82,131,352 (GRCm39) Q553* probably null Het
Steap2 A G 5: 5,727,475 (GRCm39) Y287H probably damaging Het
Tas2r135 T G 6: 42,383,315 (GRCm39) F285V probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Ttn T C 2: 76,618,538 (GRCm39) T16249A probably benign Het
Usp8 A G 2: 126,579,343 (GRCm39) T299A probably benign Het
Vmn2r101 A G 17: 19,811,288 (GRCm39) I457M possibly damaging Het
Vps41 A G 13: 19,023,883 (GRCm39) E437G probably benign Het
Zfp638 A T 6: 83,953,894 (GRCm39) E1333V probably damaging Het
Other mutations in Col14a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Col14a1 APN 15 55,274,981 (GRCm39) missense unknown
IGL01290:Col14a1 APN 15 55,286,903 (GRCm39) missense unknown
IGL01300:Col14a1 APN 15 55,331,372 (GRCm39) missense unknown
IGL01505:Col14a1 APN 15 55,318,619 (GRCm39) missense unknown
IGL01533:Col14a1 APN 15 55,284,236 (GRCm39) missense unknown
IGL01563:Col14a1 APN 15 55,351,337 (GRCm39) missense unknown
IGL01650:Col14a1 APN 15 55,270,089 (GRCm39) missense unknown
IGL01659:Col14a1 APN 15 55,309,568 (GRCm39) unclassified probably benign
IGL01670:Col14a1 APN 15 55,192,662 (GRCm39) missense unknown
IGL01760:Col14a1 APN 15 55,286,855 (GRCm39) missense unknown
IGL01803:Col14a1 APN 15 55,282,210 (GRCm39) missense unknown
IGL01966:Col14a1 APN 15 55,312,121 (GRCm39) unclassified probably benign
IGL01990:Col14a1 APN 15 55,226,859 (GRCm39) missense unknown
IGL02124:Col14a1 APN 15 55,327,099 (GRCm39) missense unknown
IGL02138:Col14a1 APN 15 55,284,231 (GRCm39) missense unknown
IGL02192:Col14a1 APN 15 55,225,798 (GRCm39) missense unknown
IGL02326:Col14a1 APN 15 55,282,193 (GRCm39) missense unknown
IGL02335:Col14a1 APN 15 55,327,165 (GRCm39) splice site probably benign
IGL02407:Col14a1 APN 15 55,312,272 (GRCm39) splice site probably benign
IGL02486:Col14a1 APN 15 55,252,092 (GRCm39) splice site probably benign
IGL02537:Col14a1 APN 15 55,208,310 (GRCm39) nonsense probably null
IGL02567:Col14a1 APN 15 55,208,357 (GRCm39) critical splice donor site probably null
IGL02643:Col14a1 APN 15 55,284,258 (GRCm39) missense unknown
IGL02669:Col14a1 APN 15 55,282,178 (GRCm39) missense unknown
IGL02673:Col14a1 APN 15 55,282,178 (GRCm39) missense unknown
IGL02674:Col14a1 APN 15 55,282,178 (GRCm39) missense unknown
IGL03201:Col14a1 APN 15 55,272,300 (GRCm39) missense unknown
IGL03334:Col14a1 APN 15 55,312,217 (GRCm39) unclassified probably benign
IGL03370:Col14a1 APN 15 55,351,937 (GRCm39) splice site probably null
IGL03385:Col14a1 APN 15 55,273,600 (GRCm39) missense unknown
IGL03385:Col14a1 APN 15 55,335,104 (GRCm39) missense unknown
PIT4131001:Col14a1 UTSW 15 55,312,272 (GRCm39) splice site probably benign
R0046:Col14a1 UTSW 15 55,272,359 (GRCm39) splice site probably benign
R0046:Col14a1 UTSW 15 55,272,359 (GRCm39) splice site probably benign
R0173:Col14a1 UTSW 15 55,351,928 (GRCm39) missense probably damaging 1.00
R0242:Col14a1 UTSW 15 55,360,907 (GRCm39) missense probably damaging 1.00
R0242:Col14a1 UTSW 15 55,360,907 (GRCm39) missense probably damaging 1.00
R0359:Col14a1 UTSW 15 55,271,264 (GRCm39) splice site probably benign
R0391:Col14a1 UTSW 15 55,309,655 (GRCm39) unclassified probably benign
R0468:Col14a1 UTSW 15 55,252,042 (GRCm39) missense unknown
R0652:Col14a1 UTSW 15 55,208,278 (GRCm39) missense unknown
R0692:Col14a1 UTSW 15 55,205,134 (GRCm39) missense unknown
R0745:Col14a1 UTSW 15 55,201,813 (GRCm39) missense unknown
R1006:Col14a1 UTSW 15 55,383,331 (GRCm39) missense probably benign 0.04
R1331:Col14a1 UTSW 15 55,273,584 (GRCm39) missense unknown
R1537:Col14a1 UTSW 15 55,244,163 (GRCm39) missense unknown
R1557:Col14a1 UTSW 15 55,251,975 (GRCm39) missense unknown
R1721:Col14a1 UTSW 15 55,310,858 (GRCm39) unclassified probably benign
R1737:Col14a1 UTSW 15 55,208,357 (GRCm39) critical splice donor site probably benign
R1837:Col14a1 UTSW 15 55,245,891 (GRCm39) missense unknown
R1867:Col14a1 UTSW 15 55,310,858 (GRCm39) unclassified probably benign
R1868:Col14a1 UTSW 15 55,310,858 (GRCm39) unclassified probably benign
R1991:Col14a1 UTSW 15 55,313,336 (GRCm39) missense unknown
R2020:Col14a1 UTSW 15 55,309,577 (GRCm39) unclassified probably benign
R2103:Col14a1 UTSW 15 55,313,336 (GRCm39) missense unknown
R2116:Col14a1 UTSW 15 55,271,160 (GRCm39) missense unknown
R2163:Col14a1 UTSW 15 55,308,041 (GRCm39) unclassified probably benign
R2207:Col14a1 UTSW 15 55,327,082 (GRCm39) missense unknown
R2215:Col14a1 UTSW 15 55,244,238 (GRCm39) missense unknown
R2264:Col14a1 UTSW 15 55,330,086 (GRCm39) splice site probably null
R2383:Col14a1 UTSW 15 55,310,913 (GRCm39) unclassified probably benign
R2397:Col14a1 UTSW 15 55,201,835 (GRCm39) missense unknown
R2422:Col14a1 UTSW 15 55,313,318 (GRCm39) missense unknown
R3793:Col14a1 UTSW 15 55,226,909 (GRCm39) missense unknown
R4082:Col14a1 UTSW 15 55,300,429 (GRCm39) missense unknown
R4112:Col14a1 UTSW 15 55,226,955 (GRCm39) missense unknown
R4519:Col14a1 UTSW 15 55,251,975 (GRCm39) missense unknown
R4628:Col14a1 UTSW 15 55,313,229 (GRCm39) nonsense probably null
R4692:Col14a1 UTSW 15 55,286,864 (GRCm39) missense unknown
R4696:Col14a1 UTSW 15 55,235,998 (GRCm39) missense unknown
R4749:Col14a1 UTSW 15 55,315,732 (GRCm39) missense unknown
R5324:Col14a1 UTSW 15 55,201,841 (GRCm39) missense unknown
R5382:Col14a1 UTSW 15 55,225,832 (GRCm39) missense unknown
R5634:Col14a1 UTSW 15 55,381,694 (GRCm39) missense probably damaging 1.00
R5781:Col14a1 UTSW 15 55,286,908 (GRCm39) missense unknown
R5828:Col14a1 UTSW 15 55,300,372 (GRCm39) missense unknown
R5873:Col14a1 UTSW 15 55,309,182 (GRCm39) unclassified probably benign
R5966:Col14a1 UTSW 15 55,315,779 (GRCm39) critical splice donor site probably null
R6106:Col14a1 UTSW 15 55,383,404 (GRCm39) missense probably damaging 1.00
R6135:Col14a1 UTSW 15 55,244,246 (GRCm39) missense unknown
R6319:Col14a1 UTSW 15 55,379,565 (GRCm39) missense probably damaging 0.99
R6475:Col14a1 UTSW 15 55,309,218 (GRCm39) unclassified probably benign
R6540:Col14a1 UTSW 15 55,235,977 (GRCm39) missense unknown
R6893:Col14a1 UTSW 15 55,308,044 (GRCm39) unclassified probably benign
R6992:Col14a1 UTSW 15 55,274,958 (GRCm39) splice site probably null
R7284:Col14a1 UTSW 15 55,381,715 (GRCm39) missense probably damaging 1.00
R7404:Col14a1 UTSW 15 55,252,024 (GRCm39) nonsense probably null
R7655:Col14a1 UTSW 15 55,225,846 (GRCm39) missense unknown
R7656:Col14a1 UTSW 15 55,225,846 (GRCm39) missense unknown
R7715:Col14a1 UTSW 15 55,351,379 (GRCm39) missense unknown
R7841:Col14a1 UTSW 15 55,245,876 (GRCm39) missense unknown
R7861:Col14a1 UTSW 15 55,308,012 (GRCm39) missense unknown
R7866:Col14a1 UTSW 15 55,252,016 (GRCm39) missense unknown
R7902:Col14a1 UTSW 15 55,364,832 (GRCm39) missense probably benign 0.16
R8041:Col14a1 UTSW 15 55,318,626 (GRCm39) missense unknown
R8159:Col14a1 UTSW 15 55,291,324 (GRCm39) missense unknown
R8224:Col14a1 UTSW 15 55,271,137 (GRCm39) missense unknown
R8282:Col14a1 UTSW 15 55,284,276 (GRCm39) missense unknown
R8729:Col14a1 UTSW 15 55,310,893 (GRCm39) nonsense probably null
R8737:Col14a1 UTSW 15 55,318,706 (GRCm39) nonsense probably null
R8871:Col14a1 UTSW 15 55,245,958 (GRCm39) missense unknown
R9069:Col14a1 UTSW 15 55,251,990 (GRCm39) missense unknown
R9081:Col14a1 UTSW 15 55,291,387 (GRCm39) missense unknown
R9088:Col14a1 UTSW 15 55,226,923 (GRCm39) missense unknown
R9193:Col14a1 UTSW 15 55,242,964 (GRCm39) missense unknown
R9274:Col14a1 UTSW 15 55,381,671 (GRCm39) missense probably damaging 0.99
R9288:Col14a1 UTSW 15 55,286,918 (GRCm39) missense unknown
R9320:Col14a1 UTSW 15 55,364,780 (GRCm39) missense probably benign 0.16
R9602:Col14a1 UTSW 15 55,351,345 (GRCm39) missense unknown
R9620:Col14a1 UTSW 15 55,225,781 (GRCm39) missense unknown
R9629:Col14a1 UTSW 15 55,382,545 (GRCm39) missense
X0023:Col14a1 UTSW 15 55,286,843 (GRCm39) missense unknown
X0063:Col14a1 UTSW 15 55,273,611 (GRCm39) missense unknown
Z1177:Col14a1 UTSW 15 55,235,966 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GTGCTGTTTGACAAAGGGGTAC -3'
(R):5'- CTTTCGCTGTGCAACATGC -3'

Sequencing Primer
(F):5'- GCATAAGCGTTCACATCTGTC -3'
(R):5'- CATGCAGCACGACATATTTTTAACC -3'
Posted On 2021-12-30