Incidental Mutation 'R2906:Col13a1'
ID 261662
Institutional Source Beutler Lab
Gene Symbol Col13a1
Ensembl Gene ENSMUSG00000058806
Gene Name collagen, type XIII, alpha 1
Synonyms
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2906 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 61674015-61814887 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 61696267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 noncoding transcript
Transcript: ENSMUST00000105451
Predicted Effect probably benign
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 benign
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 benign
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 benign
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Ddx4 G T 13: 112,757,311 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Duoxa1 C T 2: 122,135,155 (GRCm39) V197M probably benign Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Oxct2b A G 4: 123,010,823 (GRCm39) I248V probably benign Het
Pcdhgb2 A T 18: 37,823,908 (GRCm39) I300F probably damaging Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Scamp5 A G 9: 57,351,146 (GRCm39) V172A probably damaging Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp639 T C 3: 32,573,900 (GRCm39) L175P probably damaging Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G 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
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
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'- GATATGGGGCTCAGAACCCAAC -3'
(R):5'- CAGGACACATAGTACGAGCC -3'

Sequencing Primer
(F):5'- GGCTCAGAACCCAACAGCTG -3'
(R):5'- ATAGTACGAGCCCCTCCCTG -3'
Posted On 2015-01-23