Incidental Mutation 'R4585:Col13a1'
ID 344031
Institutional Source Beutler Lab
Gene Symbol Col13a1
Ensembl Gene ENSMUSG00000058806
Gene Name collagen, type XIII, alpha 1
Synonyms
MMRRC Submission 041806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4585 (G1)
Quality Score 186
Status Validated
Chromosome 10
Chromosomal Location 61674015-61814887 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 61723024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105452] [ENSMUST00000105452] [ENSMUST00000105453] [ENSMUST00000105454]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051826
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: 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (90/91)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,026,151 (GRCm39) S1269P probably benign Het
Akr7a5 G T 4: 139,038,238 (GRCm39) R58L probably benign Het
Art2a A T 7: 101,203,956 (GRCm39) L194* probably null Het
Aurkaip1 C A 4: 155,917,091 (GRCm39) A113D possibly damaging Het
Bsn T C 9: 107,987,662 (GRCm39) probably benign Het
Ccdc175 T G 12: 72,221,953 (GRCm39) D123A possibly damaging Het
Ccdc7b A G 8: 129,837,401 (GRCm39) T131A probably benign Het
Ccnt2 T C 1: 127,730,766 (GRCm39) S548P probably damaging Het
Cep126 T C 9: 8,103,338 (GRCm39) Q224R probably damaging Het
Cic A T 7: 24,972,203 (GRCm39) I645L probably benign Het
Cngb1 C T 8: 96,023,756 (GRCm39) probably null Het
Corin A T 5: 72,487,042 (GRCm39) V706D probably damaging Het
Crebrf A G 17: 26,981,229 (GRCm39) K535R probably damaging Het
Cuzd1 G A 7: 130,916,529 (GRCm39) P310L probably damaging Het
Cxcr5 T A 9: 44,425,442 (GRCm39) I72F probably benign Het
Dapp1 T C 3: 137,644,932 (GRCm39) Q148R probably benign Het
Dcaf17 T A 2: 70,918,924 (GRCm39) S499R probably benign Het
Defb3 A T 8: 19,345,172 (GRCm39) I43F possibly damaging Het
Dlgap2 G A 8: 14,777,999 (GRCm39) probably null Het
Dnah8 A G 17: 30,970,541 (GRCm39) D2684G probably benign Het
Dnajc10 T G 2: 80,178,122 (GRCm39) F710V probably damaging Het
Ep400 G A 5: 110,901,725 (GRCm39) T464I probably damaging Het
Epc1 G A 18: 6,441,157 (GRCm39) Q14* probably null Het
Eral1 A T 11: 77,969,130 (GRCm39) N123K probably damaging Het
Ercc5 G A 1: 44,198,017 (GRCm39) V145I probably benign Het
Evc A G 5: 37,481,057 (GRCm39) S263P probably damaging Het
Fancc A T 13: 63,495,378 (GRCm39) M182K probably benign Het
Fbxl3 G T 14: 103,320,526 (GRCm39) A355E probably damaging Het
Glra3 C A 8: 56,542,028 (GRCm39) T257K probably damaging Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Gm14393 C A 2: 174,904,497 (GRCm39) probably benign Het
Gm19965 T A 1: 116,749,508 (GRCm39) N396K probably benign Het
Gm27013 A T 6: 130,498,003 (GRCm39) noncoding transcript Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gsdmd T A 15: 75,737,600 (GRCm39) probably null Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2ac15 T C 13: 21,937,882 (GRCm39) N39S possibly damaging Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Ints2 G T 11: 86,140,101 (GRCm39) R244S probably damaging Het
Itgb4 T C 11: 115,884,151 (GRCm39) V945A probably damaging Het
Itih2 C T 2: 10,115,211 (GRCm39) S387N probably benign Het
Klra2 T A 6: 131,207,120 (GRCm39) D163V probably benign Het
Lctl T C 9: 64,038,882 (GRCm39) S324P probably damaging Het
Lrrc24 C A 15: 76,607,889 (GRCm39) R43L probably damaging Het
Mogs G T 6: 83,095,619 (GRCm39) R812L possibly damaging Het
Mroh5 T A 15: 73,661,120 (GRCm39) T467S probably benign Het
Mtap G A 4: 89,090,511 (GRCm39) V194I probably benign Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Obox1 A T 7: 15,290,152 (GRCm39) N165I possibly damaging Het
Or1j1 C T 2: 36,702,537 (GRCm39) C189Y probably damaging Het
Or4b1d T A 2: 89,968,558 (GRCm39) E308D probably benign Het
Or4c113 T G 2: 88,885,498 (GRCm39) I91L possibly damaging Het
Or6c35 A G 10: 129,169,142 (GRCm39) T131A probably benign Het
Pabpc6 A G 17: 9,888,002 (GRCm39) L183P probably damaging Het
Pcdh15 C T 10: 74,460,116 (GRCm39) R1355W probably damaging Het
Pcdhgb8 C A 18: 37,895,413 (GRCm39) A161E probably benign Het
Pex1 A G 5: 3,683,885 (GRCm39) Y1127C probably damaging Het
Phc2 A T 4: 128,637,303 (GRCm39) H563L probably damaging Het
Plekha2 C A 8: 25,533,685 (GRCm39) E291* probably null Het
Qser1 C A 2: 104,617,138 (GRCm39) V1225L probably benign Het
Ralgapa2 A T 2: 146,156,944 (GRCm39) D1882E probably damaging Het
Rgs17 T C 10: 5,792,596 (GRCm39) D70G probably benign Het
Runx1t1 A T 4: 13,889,864 (GRCm39) T598S unknown Het
Scn2a T A 2: 65,573,395 (GRCm39) probably null Het
Serpinb10 T A 1: 107,474,779 (GRCm39) C314S probably benign Het
Setbp1 A C 18: 79,130,164 (GRCm39) S23A probably benign Het
Sh3pxd2b A G 11: 32,346,479 (GRCm39) D116G possibly damaging Het
Slc4a1 G T 11: 102,252,245 (GRCm39) probably benign Het
Snx19 T C 9: 30,351,491 (GRCm39) L155P probably damaging Het
Sox2 A G 3: 34,705,193 (GRCm39) N210S probably benign Het
Spag6 T C 2: 18,736,958 (GRCm39) probably null Het
Speer4b A T 5: 27,703,036 (GRCm39) L154Q probably null Het
Strn3 T A 12: 51,696,953 (GRCm39) E259D probably benign Het
Tenm1 G A X: 41,626,856 (GRCm39) Q1931* probably null Het
Trp53bp1 C G 2: 121,038,432 (GRCm39) G1469R probably damaging Het
Ttc8 C A 12: 98,948,789 (GRCm39) Q492K probably benign Het
Ttn T C 2: 76,798,747 (GRCm39) H509R probably benign Het
Utrn T A 10: 12,564,050 (GRCm39) H1270L probably benign Het
Vopp1 G A 6: 57,731,533 (GRCm39) P153S probably damaging Het
Wdfy4 T A 14: 32,809,912 (GRCm39) I1770F possibly damaging Het
Zfp14 G T 7: 29,738,341 (GRCm39) Q215K probably damaging Het
Zfp473 A T 7: 44,382,376 (GRCm39) Y651* probably null Het
Zfp735 G T 11: 73,580,550 (GRCm39) E16D possibly damaging 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
R1572:Col13a1 UTSW 10 61,702,205 (GRCm39) splice site probably null
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
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'- GCTTATTAGACTGCCTCCCG -3'
(R):5'- TCAGCAGATGCATGGCACAG -3'

Sequencing Primer
(F):5'- ACACAGCCCTGCAGGTTTG -3'
(R):5'- CACAGGGGGCAGTGTGAC -3'
Posted On 2015-09-24