Incidental Mutation 'R1572:Col13a1'
ID 170867
Institutional Source Beutler Lab
Gene Symbol Col13a1
Ensembl Gene ENSMUSG00000058806
Gene Name collagen, type XIII, alpha 1
Synonyms
MMRRC Submission 039611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1572 (G1)
Quality Score 144
Status Validated
Chromosome 10
Chromosomal Location 61674015-61814887 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 61702205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000105452] [ENSMUST00000105452] [ENSMUST00000105453] [ENSMUST00000105453] [ENSMUST00000105453] [ENSMUST00000105454] [ENSMUST00000105454]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105451
Predicted Effect probably null
Transcript: ENSMUST00000105452
SMART Domains Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806

DomainStartEndE-ValueType
low complexity region 41 59 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
Pfam:Collagen 154 214 1.6e-12 PFAM
Pfam:Collagen 255 319 1.8e-10 PFAM
Pfam:Collagen 283 338 7.8e-11 PFAM
Pfam:Collagen 313 376 6.8e-10 PFAM
Pfam:Collagen 377 436 3e-10 PFAM
Pfam:Collagen 458 517 4.3e-12 PFAM
Pfam:Collagen 498 559 7.7e-12 PFAM
Pfam:Collagen 557 616 1.6e-11 PFAM
Pfam:Collagen 587 666 9.8e-8 PFAM
Pfam:Collagen 635 704 4e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105452
SMART Domains Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806

DomainStartEndE-ValueType
low complexity region 41 59 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
Pfam:Collagen 154 214 1.6e-12 PFAM
Pfam:Collagen 255 319 1.8e-10 PFAM
Pfam:Collagen 283 338 7.8e-11 PFAM
Pfam:Collagen 313 376 6.8e-10 PFAM
Pfam:Collagen 377 436 3e-10 PFAM
Pfam:Collagen 458 517 4.3e-12 PFAM
Pfam:Collagen 498 559 7.7e-12 PFAM
Pfam:Collagen 557 616 1.6e-11 PFAM
Pfam:Collagen 587 666 9.8e-8 PFAM
Pfam:Collagen 635 704 4e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105453
SMART Domains Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806

DomainStartEndE-ValueType
internal_repeat_5 17 30 7.25e-5 PROSPERO
low complexity region 41 59 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
internal_repeat_5 140 153 7.25e-5 PROSPERO
Pfam:Collagen 154 214 1.5e-12 PFAM
Pfam:Collagen 235 296 1e-10 PFAM
internal_repeat_2 297 328 1.33e-8 PROSPERO
internal_repeat_1 297 332 1.43e-12 PROSPERO
Pfam:Collagen 355 414 2.8e-10 PFAM
Pfam:Collagen 436 495 4.6e-12 PFAM
Pfam:Collagen 477 551 3.6e-8 PFAM
Pfam:Collagen 536 606 5.1e-10 PFAM
Pfam:Collagen 574 670 1.6e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105453
SMART Domains Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806

DomainStartEndE-ValueType
internal_repeat_5 17 30 7.25e-5 PROSPERO
low complexity region 41 59 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
internal_repeat_5 140 153 7.25e-5 PROSPERO
Pfam:Collagen 154 214 1.5e-12 PFAM
Pfam:Collagen 235 296 1e-10 PFAM
internal_repeat_2 297 328 1.33e-8 PROSPERO
internal_repeat_1 297 332 1.43e-12 PROSPERO
Pfam:Collagen 355 414 2.8e-10 PFAM
Pfam:Collagen 436 495 4.6e-12 PFAM
Pfam:Collagen 477 551 3.6e-8 PFAM
Pfam:Collagen 536 606 5.1e-10 PFAM
Pfam:Collagen 574 670 1.6e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105453
SMART Domains Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806

DomainStartEndE-ValueType
internal_repeat_5 17 30 7.25e-5 PROSPERO
low complexity region 41 59 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
internal_repeat_5 140 153 7.25e-5 PROSPERO
Pfam:Collagen 154 214 1.5e-12 PFAM
Pfam:Collagen 235 296 1e-10 PFAM
internal_repeat_2 297 328 1.33e-8 PROSPERO
internal_repeat_1 297 332 1.43e-12 PROSPERO
Pfam:Collagen 355 414 2.8e-10 PFAM
Pfam:Collagen 436 495 4.6e-12 PFAM
Pfam:Collagen 477 551 3.6e-8 PFAM
Pfam:Collagen 536 606 5.1e-10 PFAM
Pfam:Collagen 574 670 1.6e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105454
SMART Domains Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806

DomainStartEndE-ValueType
low complexity region 41 59 N/A INTRINSIC
Pfam:Collagen 112 161 6.7e-9 PFAM
Pfam:Collagen 164 223 1.5e-11 PFAM
Pfam:Collagen 264 328 6.7e-10 PFAM
Pfam:Collagen 292 347 2.8e-10 PFAM
Pfam:Collagen 322 385 2.3e-9 PFAM
Pfam:Collagen 386 445 1.1e-9 PFAM
Pfam:Collagen 467 526 1.6e-11 PFAM
Pfam:Collagen 507 582 4.8e-9 PFAM
Pfam:Collagen 564 630 5.4e-9 PFAM
low complexity region 671 695 N/A INTRINSIC
internal_repeat_2 698 723 7.38e-7 PROSPERO
Predicted Effect probably null
Transcript: ENSMUST00000105454
SMART Domains Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806

DomainStartEndE-ValueType
low complexity region 41 59 N/A INTRINSIC
Pfam:Collagen 112 161 6.7e-9 PFAM
Pfam:Collagen 164 223 1.5e-11 PFAM
Pfam:Collagen 264 328 6.7e-10 PFAM
Pfam:Collagen 292 347 2.8e-10 PFAM
Pfam:Collagen 322 385 2.3e-9 PFAM
Pfam:Collagen 386 445 1.1e-9 PFAM
Pfam:Collagen 467 526 1.6e-11 PFAM
Pfam:Collagen 507 582 4.8e-9 PFAM
Pfam:Collagen 564 630 5.4e-9 PFAM
low complexity region 671 695 N/A INTRINSIC
internal_repeat_2 698 723 7.38e-7 PROSPERO
Predicted Effect probably null
Transcript: ENSMUST00000145469
SMART Domains Protein: ENSMUSP00000117248
Gene: ENSMUSG00000058806

DomainStartEndE-ValueType
Pfam:Collagen 8 67 1.1e-12 PFAM
Pfam:Collagen 93 156 7.2e-12 PFAM
Pfam:Collagen 170 239 9.6e-12 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 92.9%
  • 20x: 80.7%
Validation Efficiency 97% (130/134)
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 one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an allele lacking the transmembrane exhibit small muscle fibers and are susceptible to excerise-induced muscle damage and muscle inflammation. Mice homozygous for a knock-out allele exhibit tremors and abnormal neuromuscular junction morphology and endplate potential. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik G A 9: 50,651,973 (GRCm39) T85M probably damaging Het
Actn1 A G 12: 80,219,731 (GRCm39) probably benign Het
Afap1l1 A T 18: 61,870,570 (GRCm39) S603T probably damaging Het
Ahcy T C 2: 154,910,851 (GRCm39) Y39C probably benign Het
Ankmy2 T C 12: 36,236,941 (GRCm39) probably null Het
Anxa13 A T 15: 58,220,655 (GRCm39) noncoding transcript Het
Aoc1 T C 6: 48,882,720 (GRCm39) S221P possibly damaging Het
Arhgef10 C A 8: 15,041,211 (GRCm39) A770D possibly damaging Het
Arhgef19 A G 4: 140,982,065 (GRCm39) D707G probably benign Het
Arhgef3 G A 14: 27,123,692 (GRCm39) R444H probably damaging Het
Asphd1 T C 7: 126,548,271 (GRCm39) I11V probably benign Het
Atp2b1 A G 10: 98,830,537 (GRCm39) M333V probably benign Het
BC051665 T C 13: 60,932,841 (GRCm39) Y40C probably damaging Het
Ccdc87 T A 19: 4,890,341 (GRCm39) S278T probably benign Het
Ccn3 T A 15: 54,612,648 (GRCm39) M219K possibly damaging Het
Cdcp3 T A 7: 130,846,560 (GRCm39) Y777* probably null Het
Chaf1b G A 16: 93,698,118 (GRCm39) G463D possibly damaging Het
Chrna4 T C 2: 180,671,100 (GRCm39) T219A possibly damaging Het
Clcnkb T G 4: 141,134,406 (GRCm39) T584P possibly damaging Het
Clptm1l T C 13: 73,755,866 (GRCm39) S161P probably benign Het
Cmya5 T C 13: 93,230,777 (GRCm39) E1437G possibly damaging Het
Col3a1 T C 1: 45,385,128 (GRCm39) S82P possibly damaging Het
Cpeb3 A T 19: 37,116,482 (GRCm39) M383K probably benign Het
Cr2 T A 1: 194,845,622 (GRCm39) H111L probably damaging Het
Cttnbp2 T C 6: 18,375,974 (GRCm39) S1522G possibly damaging Het
Cul3 T C 1: 80,260,506 (GRCm39) D281G possibly damaging Het
Cyp2c70 T G 19: 40,172,426 (GRCm39) K72T probably benign Het
Cyp39a1 A T 17: 43,991,020 (GRCm39) I110F probably damaging Het
Cyp46a1 T A 12: 108,318,198 (GRCm39) M203K probably null Het
Cyp8b1 A T 9: 121,744,024 (GRCm39) V436D possibly damaging Het
Ddx17 T C 15: 79,422,766 (GRCm39) D324G probably damaging Het
Dop1b A G 16: 93,567,041 (GRCm39) N1274S probably damaging Het
Dscaml1 G A 9: 45,632,631 (GRCm39) V1166I probably benign Het
Dsp T C 13: 38,379,714 (GRCm39) V1554A probably damaging Het
Efr3a T A 15: 65,726,641 (GRCm39) probably null Het
Egfem1 A T 3: 29,702,420 (GRCm39) N223I probably benign Het
Egr2 T C 10: 67,375,805 (GRCm39) S147P probably damaging Het
Elmo3 A G 8: 106,034,933 (GRCm39) T408A probably benign Het
Flnb A G 14: 7,883,908 (GRCm38) D378G probably damaging Het
Foxj2 T A 6: 122,810,220 (GRCm39) M193K probably benign Het
Gm6327 A G 16: 12,578,020 (GRCm39) noncoding transcript Het
Gm7694 T C 1: 170,130,335 (GRCm39) H21R probably benign Het
Gpr107 A G 2: 31,057,037 (GRCm39) D43G probably damaging Het
Grid2 T A 6: 64,406,678 (GRCm39) Y679* probably null Het
Grin2c G A 11: 115,146,900 (GRCm39) P432S possibly damaging Het
H2-M10.1 A G 17: 36,636,625 (GRCm39) F60L possibly damaging Het
Hectd4 A G 5: 121,439,941 (GRCm39) D1147G possibly damaging Het
Idua G T 5: 108,828,455 (GRCm39) A223S probably benign Het
Ifi206 T C 1: 173,314,419 (GRCm39) Q7R probably benign Het
Itgad T A 7: 127,802,406 (GRCm39) V986E probably damaging Het
Itsn2 G A 12: 4,700,044 (GRCm39) R670H probably benign Het
Kdm4a T C 4: 117,996,146 (GRCm39) E961G possibly damaging Het
Klra5 T A 6: 129,883,585 (GRCm39) I91L probably damaging Het
Kntc1 A G 5: 123,910,176 (GRCm39) T525A probably damaging Het
Lct A G 1: 128,221,932 (GRCm39) F1536L probably benign Het
Lmod1 T A 1: 135,291,671 (GRCm39) D175E probably benign Het
Lonrf1 A C 8: 36,701,126 (GRCm39) D361E probably benign Het
Lrrc19 T C 4: 94,526,666 (GRCm39) Y297C probably damaging Het
Mast4 T C 13: 102,873,431 (GRCm39) E1787G possibly damaging Het
Mpp2 G A 11: 101,951,374 (GRCm39) A452V probably benign Het
Msh2 T C 17: 88,026,080 (GRCm39) V686A possibly damaging Het
Mthfd1 C T 12: 76,317,193 (GRCm39) Q15* probably null Het
Mtnr1b A T 9: 15,774,438 (GRCm39) I207N probably damaging Het
Nid2 A G 14: 19,855,480 (GRCm39) T1207A probably benign Het
Nin A T 12: 70,085,524 (GRCm39) V1569D probably damaging Het
Nrcam T A 12: 44,584,147 (GRCm39) probably benign Het
Nsd1 T A 13: 55,394,782 (GRCm39) H897Q probably damaging Het
Or10g9 A G 9: 39,912,490 (GRCm39) F11S probably benign Het
Or12d2 A T 17: 37,624,371 (GRCm39) N301K probably benign Het
Or2w2 T A 13: 21,758,480 (GRCm39) I49F possibly damaging Het
Or7d10 G T 9: 19,832,208 (GRCm39) K234N probably benign Het
Paip1 T C 13: 119,588,320 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,735,375 (GRCm39) R484* probably null Het
Pdxk A G 10: 78,283,814 (GRCm39) Y127H probably damaging Het
Phf20 T A 2: 156,129,754 (GRCm39) V442E probably benign Het
Phlpp1 G A 1: 106,320,519 (GRCm39) D1505N probably damaging Het
Pkhd1 T C 1: 20,417,664 (GRCm39) T2496A probably benign Het
Pkhd1l1 A G 15: 44,406,869 (GRCm39) T2369A probably benign Het
Plod2 T A 9: 92,485,120 (GRCm39) probably benign Het
Pnpla7 T A 2: 24,905,263 (GRCm39) M617K possibly damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkch T A 12: 73,696,131 (GRCm39) probably null Het
Prr12 G A 7: 44,678,224 (GRCm39) H1974Y unknown Het
Prr16 A G 18: 51,436,042 (GRCm39) I174V probably benign Het
Prss45 A T 9: 110,667,497 (GRCm39) T39S probably benign Het
Pum1 T A 4: 130,445,515 (GRCm39) D161E probably damaging Het
Rad51ap2 A G 12: 11,507,113 (GRCm39) D345G probably damaging Het
Ralgapb A G 2: 158,288,119 (GRCm39) probably benign Het
Rasgrp3 A G 17: 75,807,729 (GRCm39) H262R possibly damaging Het
Rnf213 T A 11: 119,327,437 (GRCm39) I1809N probably damaging Het
Ryr1 A G 7: 28,761,616 (GRCm39) L3177P probably damaging Het
Scyl2 C A 10: 89,486,818 (GRCm39) R230L probably damaging Het
Sfxn2 T C 19: 46,570,915 (GRCm39) probably benign Het
Slc18b1 T C 10: 23,674,639 (GRCm39) probably benign Het
Spata31d1d T C 13: 59,876,005 (GRCm39) H510R probably benign Het
Stab1 A T 14: 30,872,780 (GRCm39) N1109K probably damaging Het
Styxl2 C T 1: 165,927,024 (GRCm39) V863M possibly damaging Het
Sult3a2 A G 10: 33,657,973 (GRCm39) S47P probably damaging Het
Tenm3 T C 8: 48,682,028 (GRCm39) N2518S possibly damaging Het
Tex21 G T 12: 76,253,665 (GRCm39) P416Q probably benign Het
Tex38 T C 4: 115,637,503 (GRCm39) N100S probably benign Het
Thsd4 A C 9: 60,301,836 (GRCm39) probably benign Het
Ticrr T C 7: 79,331,572 (GRCm39) V723A probably damaging Het
Tmprss15 A G 16: 78,887,717 (GRCm39) V30A probably benign Het
Uba3 A G 6: 97,162,298 (GRCm39) probably benign Het
Ubr1 T C 2: 120,765,800 (GRCm39) probably benign Het
Uchl4 A T 9: 64,143,013 (GRCm39) I165L probably benign Het
Vmn2r112 A T 17: 22,822,125 (GRCm39) T268S possibly damaging Het
Wfdc3 T C 2: 164,586,114 (GRCm39) probably benign Het
Zfp282 T A 6: 47,869,801 (GRCm39) L282Q probably damaging Het
Zfp422 A T 6: 116,603,745 (GRCm39) C85S probably damaging Het
Zfp790 A T 7: 29,527,564 (GRCm39) Q83L probably benign Het
Other mutations in Col13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Col13a1 APN 10 61,699,784 (GRCm39) critical splice acceptor site probably null
IGL00936:Col13a1 APN 10 61,712,069 (GRCm39) missense probably damaging 0.99
IGL00963:Col13a1 APN 10 61,674,476 (GRCm39) utr 3 prime probably benign
IGL01801:Col13a1 APN 10 61,679,393 (GRCm39) missense probably damaging 1.00
IGL02247:Col13a1 APN 10 61,797,124 (GRCm39) missense probably damaging 1.00
IGL02296:Col13a1 APN 10 61,697,804 (GRCm39) intron probably benign
IGL02430:Col13a1 APN 10 61,710,530 (GRCm39) missense probably benign 0.26
IGL02884:Col13a1 APN 10 61,741,064 (GRCm39) splice site probably benign
IGL03036:Col13a1 APN 10 61,729,692 (GRCm39) critical splice donor site probably null
IGL03145:Col13a1 APN 10 61,727,040 (GRCm39) missense probably benign 0.07
IGL03392:Col13a1 APN 10 61,721,490 (GRCm39) missense possibly damaging 0.88
R0027:Col13a1 UTSW 10 61,685,940 (GRCm39) missense unknown
R0440:Col13a1 UTSW 10 61,703,262 (GRCm39) missense possibly damaging 0.85
R0518:Col13a1 UTSW 10 61,698,525 (GRCm39) missense unknown
R0521:Col13a1 UTSW 10 61,698,525 (GRCm39) missense unknown
R0631:Col13a1 UTSW 10 61,723,129 (GRCm39) nonsense probably null
R1311:Col13a1 UTSW 10 61,699,789 (GRCm39) splice site probably benign
R1350:Col13a1 UTSW 10 61,729,848 (GRCm39) splice site probably benign
R2401:Col13a1 UTSW 10 61,686,941 (GRCm39) missense unknown
R2883:Col13a1 UTSW 10 61,814,135 (GRCm39) missense probably benign 0.23
R2906:Col13a1 UTSW 10 61,696,267 (GRCm39) intron probably benign
R2964:Col13a1 UTSW 10 61,797,110 (GRCm39) missense probably damaging 1.00
R2965:Col13a1 UTSW 10 61,797,110 (GRCm39) missense probably damaging 1.00
R3703:Col13a1 UTSW 10 61,703,608 (GRCm39) critical splice donor site probably null
R3704:Col13a1 UTSW 10 61,703,608 (GRCm39) critical splice donor site probably null
R3844:Col13a1 UTSW 10 61,685,988 (GRCm39) missense unknown
R3928:Col13a1 UTSW 10 61,703,304 (GRCm39) unclassified probably benign
R3939:Col13a1 UTSW 10 61,698,861 (GRCm39) missense unknown
R4327:Col13a1 UTSW 10 61,699,758 (GRCm39) missense unknown
R4328:Col13a1 UTSW 10 61,699,758 (GRCm39) missense unknown
R4329:Col13a1 UTSW 10 61,699,758 (GRCm39) missense unknown
R4585:Col13a1 UTSW 10 61,723,024 (GRCm39) splice site probably null
R4705:Col13a1 UTSW 10 61,685,944 (GRCm39) missense unknown
R4864:Col13a1 UTSW 10 61,698,439 (GRCm39) missense unknown
R5072:Col13a1 UTSW 10 61,709,797 (GRCm39) splice site silent
R5074:Col13a1 UTSW 10 61,709,797 (GRCm39) splice site silent
R5114:Col13a1 UTSW 10 61,725,880 (GRCm39) missense possibly damaging 0.82
R5625:Col13a1 UTSW 10 61,679,388 (GRCm39) missense unknown
R5664:Col13a1 UTSW 10 61,686,895 (GRCm39) missense probably damaging 1.00
R5799:Col13a1 UTSW 10 61,684,919 (GRCm39) intron probably benign
R8482:Col13a1 UTSW 10 61,720,477 (GRCm39) missense probably damaging 1.00
R8989:Col13a1 UTSW 10 61,696,250 (GRCm39) missense unknown
R9181:Col13a1 UTSW 10 61,703,612 (GRCm39) missense possibly damaging 0.66
R9183:Col13a1 UTSW 10 61,699,758 (GRCm39) missense unknown
R9215:Col13a1 UTSW 10 61,685,990 (GRCm39) critical splice acceptor site probably null
R9307:Col13a1 UTSW 10 61,703,248 (GRCm39) missense unknown
Z1177:Col13a1 UTSW 10 61,741,041 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCTCAGACCCAGAACTTTAGGAC -3'
(R):5'- AGCTAATAAACCTTTGGGCGGTGTG -3'

Sequencing Primer
(F):5'- CCAGGGTTTTTCCAGGAACAG -3'
(R):5'- TGTGGGAGTGACATAGAGCTG -3'
Posted On 2014-04-13