Incidental Mutation 'IGL00936:Col13a1'
ID 28347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col13a1
Ensembl Gene ENSMUSG00000058806
Gene Name collagen, type XIII, alpha 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00936
Quality Score
Status
Chromosome 10
Chromosomal Location 61674015-61814887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61712069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 332 (M332T)
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 noncoding transcript
Transcript: ENSMUST00000105451
Predicted Effect probably damaging
Transcript: ENSMUST00000105452
AA Change: M323T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806
AA Change: M323T

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 damaging
Transcript: ENSMUST00000105453
AA Change: M301T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806
AA Change: M301T

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 damaging
Transcript: ENSMUST00000105454
AA Change: M332T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806
AA Change: M332T

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
Coding Region Coverage
Validation Efficiency
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,682,510 (GRCm39) T1053A probably benign Het
Cstdc1 A C 2: 148,627,724 (GRCm39) T124P probably benign Het
Cyth4 A G 15: 78,504,113 (GRCm39) E361G probably benign Het
Mrps22 T C 9: 98,479,034 (GRCm39) T114A possibly damaging Het
Nup155 T C 15: 8,157,889 (GRCm39) probably benign Het
Or5b113 T A 19: 13,341,988 (GRCm39) probably benign Het
Slc35g3 T C 11: 69,651,317 (GRCm39) probably null Het
Taar7f T C 10: 23,926,066 (GRCm39) V220A probably benign Het
Other mutations in Col13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Col13a1 APN 10 61,699,784 (GRCm39) critical splice acceptor site probably null
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
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
Posted On 2013-04-17