Incidental Mutation 'R5828:Col14a1'
ID 450292
Institutional Source Beutler Lab
Gene Symbol Col14a1
Ensembl Gene ENSMUSG00000022371
Gene Name collagen, type XIV, alpha 1
Synonyms 5730412L22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5828 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 55171146-55384199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55300372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 967 (V967I)
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: V970I
SMART Domains Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: V970I

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: V971I
SMART Domains Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: V971I

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: V967I
SMART Domains Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: V967I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187158
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (63/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,432,144 (GRCm39) D95G unknown Het
Arl10 T A 13: 54,726,768 (GRCm39) V182E probably damaging Het
Cacna1g T G 11: 94,347,980 (GRCm39) S703R probably damaging Het
Ces2a C A 8: 105,465,956 (GRCm39) T363N probably benign Het
Col22a1 A T 15: 71,881,340 (GRCm39) F4I probably benign Het
D630045J12Rik A G 6: 38,173,302 (GRCm39) W289R possibly damaging Het
Disc1 A G 8: 125,977,763 (GRCm39) Q793R probably damaging Het
Dnhd1 C T 7: 105,369,388 (GRCm39) T4337I probably benign Het
Eif2b5 T A 16: 20,321,536 (GRCm39) V363D possibly damaging Het
Emsy T C 7: 98,242,699 (GRCm39) T1147A probably benign Het
Epg5 T A 18: 78,064,066 (GRCm39) Y2048N probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxred1 A G 9: 35,121,492 (GRCm39) probably benign Het
Gpaa1 T C 15: 76,216,471 (GRCm39) probably benign Het
Gria4 A C 9: 4,432,832 (GRCm39) L784V probably damaging Het
Homer3 A G 8: 70,738,956 (GRCm39) Y105C probably benign Het
Hpgd T C 8: 56,772,106 (GRCm39) S193P probably benign Het
Irf1 T A 11: 53,666,762 (GRCm39) W247R probably benign Het
Lpgat1 A G 1: 191,508,494 (GRCm39) Q344R possibly damaging Het
Luzp1 T C 4: 136,267,993 (GRCm39) V72A probably damaging Het
Malrd1 G A 2: 15,531,464 (GRCm39) V8M probably benign Het
Msmo1 T C 8: 65,172,144 (GRCm39) H253R probably damaging Het
Nom1 A G 5: 29,640,124 (GRCm39) K150R possibly damaging Het
Onecut1 A G 9: 74,770,042 (GRCm39) E155G probably benign Het
Or12k7 A G 2: 36,959,001 (GRCm39) H228R probably benign Het
Or14c46 T A 7: 85,918,728 (GRCm39) M90L probably benign Het
Or5p59 T C 7: 107,703,005 (GRCm39) V163A possibly damaging Het
Osbpl10 G A 9: 114,890,944 (GRCm39) V111M probably damaging Het
Pcdhgb6 T C 18: 37,877,457 (GRCm39) S722P probably benign Het
Plin4 T A 17: 56,414,064 (GRCm39) D187V probably damaging Het
Pmf1 T C 3: 88,303,294 (GRCm39) E89G possibly damaging Het
Polr1d A T 5: 147,014,408 (GRCm39) probably benign Het
Ppp1r9a T C 6: 5,158,200 (GRCm39) Y1006H probably damaging Het
Ppp2r5c A G 12: 110,537,134 (GRCm39) K420E probably benign Het
Prdx1 T C 4: 116,551,006 (GRCm39) L159P probably damaging Het
Psmd6 G T 14: 14,119,990 (GRCm38) D39E probably benign Het
Rffl T C 11: 82,709,244 (GRCm39) K60E probably damaging Het
Rspo2 A T 15: 42,939,283 (GRCm39) L169Q probably damaging Het
Sbf1 T A 15: 89,172,837 (GRCm39) D1892V probably damaging Het
Sbno2 G A 10: 79,902,424 (GRCm39) S475F possibly damaging Het
Serpina3i T A 12: 104,231,474 (GRCm39) V37E probably benign Het
Siglecf G A 7: 43,001,137 (GRCm39) C35Y probably damaging Het
Slc22a27 G T 19: 7,903,767 (GRCm39) D123E probably damaging Het
Smim23 T A 11: 32,770,592 (GRCm39) K105* probably null Het
Soat1 C T 1: 156,265,318 (GRCm39) S348N probably benign Het
Sp2 C T 11: 96,851,811 (GRCm39) probably benign Het
St14 T A 9: 31,002,803 (GRCm39) H700L probably damaging Het
St3gal1 T A 15: 66,985,634 (GRCm39) K7* probably null Het
Tgm1 T C 14: 55,943,011 (GRCm39) K610E probably benign Het
Tob1 T A 11: 94,104,583 (GRCm39) Y40N probably damaging Het
Tob1 T A 11: 94,104,585 (GRCm39) Y40* probably null Het
Trpc4ap A G 2: 155,477,130 (GRCm39) probably benign Het
Ttc9 C T 12: 81,678,450 (GRCm39) P91L probably benign Het
Zbtb18 T C 1: 177,275,446 (GRCm39) S269P probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 A T 13: 92,650,410 (GRCm39) V858E 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
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
R9113:Col14a1 UTSW 15 55,201,825 (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'- TACCTGGAGATACAATGCTGC -3'
(R):5'- TATTCCCAGGCAGCAAGAAC -3'

Sequencing Primer
(F):5'- GAGATACAATGCTGCAAATAAATGC -3'
(R):5'- TTCTAAACAGGGTGAAGCTGTAGATC -3'
Posted On 2016-12-20