Incidental Mutation 'R4696:Col14a1'
ID 355731
Institutional Source Beutler Lab
Gene Symbol Col14a1
Ensembl Gene ENSMUSG00000022371
Gene Name collagen, type XIV, alpha 1
Synonyms 5730412L22Rik
MMRRC Submission 041946-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4696 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 55171146-55384199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55235998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 304 (Q304R)
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: Q304R
SMART Domains Protein: ENSMUSP00000023053
Gene: ENSMUSG00000022371
AA Change: Q304R

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: Q304R
SMART Domains Protein: ENSMUSP00000105846
Gene: ENSMUSG00000022371
AA Change: Q304R

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: Q304R
SMART Domains Protein: ENSMUSP00000105850
Gene: ENSMUSG00000022371
AA Change: Q304R

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
Meta Mutation Damage Score 0.0667 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 99% (74/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,241,817 (GRCm39) S1405G probably benign Het
Acaca T C 11: 84,171,261 (GRCm39) V1165A possibly damaging Het
Acin1 C A 14: 54,880,474 (GRCm39) probably benign Het
Akr1b8 G A 6: 34,340,312 (GRCm39) V159I probably benign Het
Alms1 T C 6: 85,597,504 (GRCm39) Y777H probably damaging Het
Cblc C A 7: 19,530,407 (GRCm39) G101C probably damaging Het
Cdc42ep5 G A 7: 4,154,614 (GRCm39) P58L possibly damaging Het
Cic A G 7: 24,987,908 (GRCm39) N1532S probably benign Het
Cipc T A 12: 86,999,714 (GRCm39) probably benign Het
Clca4b T C 3: 144,617,146 (GRCm39) I835V probably benign Het
Cntrob C T 11: 69,211,714 (GRCm39) G170D probably damaging Het
Csmd3 T C 15: 47,777,364 (GRCm39) T1181A probably benign Het
Dchs1 A G 7: 105,413,834 (GRCm39) F994L probably damaging Het
Ddx42 C A 11: 106,138,529 (GRCm39) A776D probably benign Het
Disp2 G T 2: 118,622,165 (GRCm39) E966* probably null Het
Dmpk A T 7: 18,822,139 (GRCm39) N366Y probably damaging Het
Dmrt1 A G 19: 25,580,674 (GRCm39) Y362C possibly damaging Het
Dock10 C T 1: 80,493,330 (GRCm39) G1880D possibly damaging Het
Dzip1l A G 9: 99,545,664 (GRCm39) R638G possibly damaging Het
Dzip3 T A 16: 48,746,332 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Eno4 T C 19: 58,934,068 (GRCm39) S90P probably damaging Het
Epn2 C G 11: 61,426,129 (GRCm39) A283P probably damaging Het
Eya3 T A 4: 132,397,543 (GRCm39) Y67* probably null Het
Fat2 T C 11: 55,175,841 (GRCm39) N1624S probably benign Het
Fez1 T A 9: 36,781,766 (GRCm39) probably null Het
Fgfr1 T C 8: 26,053,504 (GRCm39) S260P probably damaging Het
Glb1 A G 9: 114,293,220 (GRCm39) S532G probably benign Het
Gm15455 A T 1: 33,876,874 (GRCm39) noncoding transcript Het
Grid2ip A G 5: 143,377,131 (GRCm39) probably benign Het
Guca2b C A 4: 119,513,996 (GRCm39) G129V probably damaging Het
Hes3 T C 4: 152,372,124 (GRCm39) E65G probably damaging Het
Itgbl1 T C 14: 124,204,120 (GRCm39) C404R probably damaging Het
Kansl1 C T 11: 104,247,593 (GRCm39) V586I possibly damaging Het
Krt18 A G 15: 101,940,293 (GRCm39) D390G probably benign Het
Laptm5 T C 4: 130,660,982 (GRCm39) probably benign Het
Lgals3bp C T 11: 118,288,977 (GRCm39) E116K probably benign Het
Lrrc39 C T 3: 116,363,769 (GRCm39) S114F probably damaging Het
Mfap3 T C 11: 57,419,117 (GRCm39) probably null Het
Nphp3 A G 9: 103,899,931 (GRCm39) H481R probably benign Het
Ntm T C 9: 29,090,501 (GRCm39) T73A possibly damaging Het
Or5m13b T A 2: 85,749,215 (GRCm39) probably null Het
Or8g4 T A 9: 39,662,024 (GRCm39) M114K probably damaging Het
Pbk G A 14: 66,049,386 (GRCm39) C21Y probably benign Het
Pglyrp1 A G 7: 18,618,871 (GRCm39) E74G probably benign Het
R3hdm1 G T 1: 128,164,503 (GRCm39) probably benign Het
Rap1gds1 T C 3: 138,633,375 (GRCm39) T599A probably damaging Het
Rigi A G 4: 40,203,798 (GRCm39) probably benign Het
Rims1 A T 1: 22,358,836 (GRCm39) M1273K probably damaging Het
Sbf1 G A 15: 89,187,315 (GRCm39) R721* probably null Het
Slc17a1 T C 13: 24,064,700 (GRCm39) I388T probably damaging Het
Sprn A C 7: 139,733,469 (GRCm39) probably benign Het
Tango6 T C 8: 107,426,863 (GRCm39) V459A possibly damaging Het
Tert C T 13: 73,775,939 (GRCm39) T230I probably benign Het
Thada T C 17: 84,733,614 (GRCm39) D1011G possibly damaging Het
Tln2 C T 9: 67,302,743 (GRCm39) R76Q probably damaging Het
Trip11 A T 12: 101,851,549 (GRCm39) N838K possibly damaging Het
Ttn A G 2: 76,597,997 (GRCm39) W19639R probably damaging Het
Ubr4 T A 4: 139,135,983 (GRCm39) S924T probably benign Het
Upb1 A G 10: 75,250,861 (GRCm39) E110G probably benign Het
Vegfa C T 17: 46,339,272 (GRCm39) probably null Het
Vmn1r231 T C 17: 21,110,901 (GRCm39) K5E possibly damaging Het
Vmn2r16 A T 5: 109,487,168 (GRCm39) I130F probably benign Het
Wscd2 T A 5: 113,689,240 (GRCm39) V82E probably benign Het
Zfp462 A G 4: 55,008,612 (GRCm39) T193A probably benign Het
Zfp467 A G 6: 48,416,291 (GRCm39) probably benign Het
Zfp619 T C 7: 39,186,412 (GRCm39) L814P probably benign 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
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
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'- ATTCCTCTAAATCCAACTACCCTGG -3'
(R):5'- TATGAAGACAGTGCCAGGCC -3'

Sequencing Primer
(F):5'- ATTCGCCTTTCAGAGACTGG -3'
(R):5'- CCTGTGCAGGTTGTGATGCC -3'
Posted On 2015-10-21