Incidental Mutation 'R0631:Col13a1'
ID 57976
Institutional Source Beutler Lab
Gene Symbol Col13a1
Ensembl Gene ENSMUSG00000058806
Gene Name collagen, type XIII, alpha 1
Synonyms
MMRRC Submission 038820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0631 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 61674015-61814887 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 61723129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 270 (Q270*)
Ref Sequence ENSEMBL: ENSMUSP00000101094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105452] [ENSMUST00000105453] [ENSMUST00000105454]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051826
Predicted Effect probably null
Transcript: ENSMUST00000105452
AA Change: Q261*
SMART Domains Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806
AA Change: Q261*

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
AA Change: Q239*
SMART Domains Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806
AA Change: Q239*

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
AA Change: Q270*
SMART Domains Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806
AA Change: Q270*

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: 99.4%
  • 3x: 99.1%
  • 10x: 98.1%
  • 20x: 96.8%
Validation Efficiency 97% (129/133)
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: 131 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,982,479 (GRCm39) probably benign Het
Afap1l2 T C 19: 56,904,517 (GRCm39) E594G probably benign Het
Ak8 T G 2: 28,625,677 (GRCm39) I240S probably damaging Het
Akap13 T C 7: 75,264,744 (GRCm39) V174A probably damaging Het
Alppl2 G A 1: 87,017,095 (GRCm39) T66I probably damaging Het
Ankrd61 T A 5: 143,831,697 (GRCm39) I36F probably damaging Het
Antxrl T A 14: 33,780,758 (GRCm39) probably null Het
Arhgef2 G C 3: 88,541,743 (GRCm39) V244L probably damaging Het
Arid1a A G 4: 133,416,481 (GRCm39) I1098T unknown Het
Atr T C 9: 95,756,830 (GRCm39) V903A possibly damaging Het
B3gnt6 C A 7: 97,842,899 (GRCm39) A354S probably benign Het
Bnc1 A T 7: 81,624,114 (GRCm39) I371N probably damaging Het
Camsap1 A T 2: 25,823,659 (GRCm39) S1464T probably damaging Het
Cand2 G A 6: 115,780,766 (GRCm39) E1217K probably damaging Het
Cass4 T C 2: 172,274,331 (GRCm39) I728T probably damaging Het
Ccdc88a A T 11: 29,443,752 (GRCm39) M1378L probably damaging Het
Ccdc9 C A 7: 16,012,384 (GRCm39) W266L probably damaging Het
Cct6b C A 11: 82,627,914 (GRCm39) probably null Het
Cd177 T C 7: 24,456,111 (GRCm39) E219G probably benign Het
Cdkal1 A T 13: 29,538,667 (GRCm39) Y497* probably null Het
Chmp2a T C 7: 12,766,371 (GRCm39) E107G probably damaging Het
Chrna2 T G 14: 66,386,757 (GRCm39) V301G probably benign Het
Chrna7 A G 7: 62,749,391 (GRCm39) C364R probably benign Het
Cltc G T 11: 86,603,439 (GRCm39) L796I probably benign Het
Col12a1 T C 9: 79,610,658 (GRCm39) T249A probably damaging Het
Col6a1 C T 10: 76,545,569 (GRCm39) V968M probably benign Het
Copb1 C A 7: 113,832,517 (GRCm39) V511F probably benign Het
Daw1 C G 1: 83,174,981 (GRCm39) S160R probably damaging Het
Ddx46 A G 13: 55,787,590 (GRCm39) probably benign Het
Depdc7 T C 2: 104,552,332 (GRCm39) K492E possibly damaging Het
Dmbt1 C T 7: 130,699,383 (GRCm39) A1004V possibly damaging Het
Dnah7b G A 1: 46,280,152 (GRCm39) V2694I probably benign Het
Dnhd1 T A 7: 105,300,831 (GRCm39) F63I probably benign Het
Edc4 C A 8: 106,617,424 (GRCm39) A1052E possibly damaging Het
Eif2s2 T A 2: 154,726,278 (GRCm39) K129M probably damaging Het
Emx2 A G 19: 59,452,460 (GRCm39) D248G probably damaging Het
Erich6b T C 14: 75,896,449 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,394,400 (GRCm39) K507E probably benign Het
Fanci T A 7: 79,055,953 (GRCm39) V195E probably damaging Het
Fgfr2 T G 7: 129,828,969 (GRCm39) probably benign Het
Frem1 A G 4: 82,890,402 (GRCm39) S1007P probably damaging Het
Fry T C 5: 150,419,817 (GRCm39) I993T possibly damaging Het
Fst A G 13: 114,591,038 (GRCm39) S244P possibly damaging Het
Gcc1 T C 6: 28,421,009 (GRCm39) T103A probably damaging Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Gja3 T C 14: 57,274,219 (GRCm39) D51G possibly damaging Het
Gm10305 A G 4: 99,161,313 (GRCm39) D74G unknown Het
Gm12689 G T 4: 99,184,258 (GRCm39) G37V unknown Het
Gm5424 C T 10: 61,907,313 (GRCm39) noncoding transcript Het
Hephl1 T C 9: 14,995,820 (GRCm39) E434G probably benign Het
Hoatz T A 9: 51,013,253 (GRCm39) R6S probably benign Het
Htatip2 T C 7: 49,423,059 (GRCm39) C205R possibly damaging Het
Igf2r T C 17: 12,936,161 (GRCm39) probably null Het
Ints2 T C 11: 86,124,022 (GRCm39) I589V probably benign Het
Itgae T A 11: 73,005,733 (GRCm39) V299D probably damaging Het
Kcnma1 T C 14: 23,559,852 (GRCm39) probably benign Het
Kif11 A G 19: 37,401,565 (GRCm39) probably benign Het
Kif13a A G 13: 46,932,364 (GRCm39) probably benign Het
Kif18a T A 2: 109,128,667 (GRCm39) probably benign Het
Klhl29 T C 12: 5,144,883 (GRCm39) T406A probably benign Het
Litaf A T 16: 10,784,276 (GRCm39) probably benign Het
Lmntd1 T A 6: 145,375,726 (GRCm39) I71F probably benign Het
Lrit3 A C 3: 129,582,204 (GRCm39) C594W probably damaging Het
Lrp6 T A 6: 134,456,738 (GRCm39) Q842L possibly damaging Het
Lrrcc1 T A 3: 14,605,179 (GRCm39) probably benign Het
Macf1 A T 4: 123,349,317 (GRCm39) L1829* probably null Het
Mapk1ip1 T C 7: 138,437,684 (GRCm39) T249A possibly damaging Het
Mfap4 T C 11: 61,378,006 (GRCm39) F173L probably damaging Het
Mfsd9 C A 1: 40,829,634 (GRCm39) probably benign Het
Mgat4b T C 11: 50,121,590 (GRCm39) S69P probably damaging Het
Mki67 A T 7: 135,306,117 (GRCm39) V620D probably damaging Het
Moxd1 C T 10: 24,128,852 (GRCm39) T201I probably damaging Het
Msh4 G C 3: 153,572,057 (GRCm39) D774E probably benign Het
Myg1 C T 15: 102,240,284 (GRCm39) R37C probably benign Het
Myrf C A 19: 10,206,246 (GRCm39) A57S probably benign Het
Ndst1 G A 18: 60,833,431 (GRCm39) probably benign Het
Nedd4l A T 18: 65,341,574 (GRCm39) probably benign Het
Neil2 T A 14: 63,420,849 (GRCm39) I281F possibly damaging Het
Nfatc2 T A 2: 168,432,035 (GRCm39) D26V probably benign Het
Nt5c A G 11: 115,381,540 (GRCm39) probably null Het
Or13a24 T G 7: 140,154,420 (GRCm39) M118R probably damaging Het
Or2w1b G T 13: 21,300,078 (GRCm39) C72F probably damaging Het
Or2z8 T A 8: 72,812,166 (GRCm39) I214N probably damaging Het
Or5ac20 A G 16: 59,104,570 (GRCm39) C97R possibly damaging Het
Or5t15 T C 2: 86,681,311 (GRCm39) T244A probably benign Het
Ovch2 A G 7: 107,381,228 (GRCm39) S557P probably benign Het
Pik3cg A G 12: 32,255,202 (GRCm39) S262P probably benign Het
Pla2g6 T A 15: 79,190,596 (GRCm39) H322L probably damaging Het
Plch1 A T 3: 63,606,640 (GRCm39) L1079Q probably benign Het
Plekhg4 T A 8: 106,105,934 (GRCm39) V777D probably damaging Het
Plekhg5 A G 4: 152,196,876 (GRCm39) D747G possibly damaging Het
Poln C A 5: 34,276,302 (GRCm39) V318F possibly damaging Het
Pou5f2 T A 13: 78,173,873 (GRCm39) S272T probably benign Het
Ppp1r3e T G 14: 55,114,073 (GRCm39) S200R possibly damaging Het
Prl7d1 G A 13: 27,894,165 (GRCm39) P135S probably benign Het
Ptgs2 G A 1: 149,980,288 (GRCm39) V409I probably benign Het
Ptk2b T C 14: 66,415,200 (GRCm39) T276A probably damaging Het
Ptpn3 T C 4: 57,204,921 (GRCm39) T747A probably damaging Het
Qrfpr A G 3: 36,276,138 (GRCm39) I84T probably damaging Het
Rab44 A G 17: 29,358,118 (GRCm39) D102G possibly damaging Het
Rimoc1 A G 15: 4,015,971 (GRCm39) probably benign Het
Rnf125 A T 18: 21,112,140 (GRCm39) D57V possibly damaging Het
Rnf145 T C 11: 44,450,851 (GRCm39) F392L probably damaging Het
Rttn A G 18: 89,007,670 (GRCm39) N435S probably benign Het
Scn8a A G 15: 100,933,418 (GRCm39) T1500A probably damaging Het
Sgsm1 A G 5: 113,432,989 (GRCm39) probably benign Het
Sgsm3 A T 15: 80,895,937 (GRCm39) *751C probably null Het
Slc35c2 A C 2: 165,122,849 (GRCm39) L145R probably damaging Het
Slc4a7 A T 14: 14,757,382 (GRCm38) E396V probably damaging Het
Smarca4 G C 9: 21,570,280 (GRCm39) probably benign Het
Snapc3 T A 4: 83,336,039 (GRCm39) V17D probably damaging Het
Snta1 G T 2: 154,218,992 (GRCm39) Q448K probably benign Het
Sptbn2 A G 19: 4,790,014 (GRCm39) D1334G probably benign Het
Stard5 A G 7: 83,281,965 (GRCm39) R41G probably damaging Het
Stxbp5 T A 10: 9,660,102 (GRCm39) N731I probably benign Het
Tmem135 T A 7: 88,792,996 (GRCm39) K413* probably null Het
Tmem38a G A 8: 73,333,862 (GRCm39) V114I probably benign Het
Tpr A G 1: 150,298,282 (GRCm39) T1057A probably damaging Het
Ttc23l A T 15: 10,540,066 (GRCm39) L139Q probably damaging Het
Ttn T A 2: 76,585,640 (GRCm39) probably null Het
Tuba3b A G 6: 145,565,302 (GRCm39) T257A probably damaging Het
Tubgcp6 A C 15: 88,985,190 (GRCm39) Y1633D probably damaging Het
Txnl1 C T 18: 63,804,644 (GRCm39) probably benign Het
Unc13b A G 4: 43,182,849 (GRCm39) Q3186R possibly damaging Het
Vmn2r75 T A 7: 85,812,478 (GRCm39) S514C probably null Het
Whrn G A 4: 63,337,726 (GRCm39) T545I probably damaging Het
Zdhhc20 T C 14: 58,095,097 (GRCm39) H154R probably damaging Het
Zfp462 A T 4: 55,007,563 (GRCm39) M1L possibly damaging Het
Zfp831 A G 2: 174,487,083 (GRCm39) K586R possibly damaging Het
Zfp990 A T 4: 145,263,872 (GRCm39) H290L possibly damaging Het
Zfpm1 C T 8: 123,063,613 (GRCm39) 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
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
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'- ACAGCAGCCAAAGTCCCTTGAGAG -3'
(R):5'- TGTCACCACAGCATCGTCATCC -3'

Sequencing Primer
(F):5'- GTGTTCAGGCCCTTGACAAAATG -3'
(R):5'- ATCGTCATCCGATCACCG -3'
Posted On 2013-07-11