Incidental Mutation 'IGL03392:Col13a1'
| ID |
421109 |
| 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)
|
| Stock # |
IGL03392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
61674015-61814887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61721490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 305
(L305I)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000105452
AA Change: L296I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806
AA Change: L296I
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000105453
AA Change: L274I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806
AA Change: L274I
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000105454
AA Change: L305I
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806
AA Change: L305I
| Domain | Start | End | E-Value | Type |
|---|
|
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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,403,931 (GRCm39) |
D692E |
probably damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,543,529 (GRCm39) |
R366S |
probably damaging |
Het |
| Afg3l2 |
C |
A |
18: 67,547,139 (GRCm39) |
|
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,703,653 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
G |
4: 18,862,111 (GRCm39) |
S360P |
probably damaging |
Het |
| Commd7 |
A |
T |
2: 153,464,684 (GRCm39) |
|
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,203,884 (GRCm39) |
Y23N |
probably damaging |
Het |
| Cry1 |
A |
G |
10: 84,992,993 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,501,767 (GRCm39) |
N107D |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,798,878 (GRCm39) |
V45E |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,385,907 (GRCm39) |
E310G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,915,158 (GRCm39) |
I1597L |
probably benign |
Het |
| Fcamr |
A |
G |
1: 130,728,685 (GRCm39) |
|
probably benign |
Het |
| Fer |
A |
G |
17: 64,298,637 (GRCm39) |
I529V |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,351,826 (GRCm39) |
K1133R |
possibly damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,432 (GRCm39) |
K191E |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gbp8 |
A |
G |
5: 105,164,410 (GRCm39) |
|
probably null |
Het |
| Glb1 |
T |
G |
9: 114,259,389 (GRCm39) |
N106K |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,241,609 (GRCm39) |
I295T |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,180,099 (GRCm39) |
D844E |
probably damaging |
Het |
| Krt17 |
T |
C |
11: 100,150,561 (GRCm39) |
I159V |
possibly damaging |
Het |
| Lgi4 |
G |
A |
7: 30,762,605 (GRCm39) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,573,563 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,222,499 (GRCm39) |
K178R |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,185,244 (GRCm39) |
W832R |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,962,362 (GRCm39) |
N30S |
probably damaging |
Het |
| Or2j3 |
A |
G |
17: 38,615,786 (GRCm39) |
S189P |
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,593 (GRCm39) |
V159D |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,873,321 (GRCm39) |
N19Y |
probably benign |
Het |
| Or51ai2 |
T |
C |
7: 103,587,232 (GRCm39) |
V215A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,460,104 (GRCm39) |
I1314F |
probably damaging |
Het |
| Phf14 |
G |
A |
6: 11,962,658 (GRCm39) |
S435N |
probably damaging |
Het |
| Prss45 |
T |
A |
9: 110,669,618 (GRCm39) |
Y231* |
probably null |
Het |
| Pus7l |
T |
C |
15: 94,434,449 (GRCm39) |
D339G |
probably damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,408 (GRCm39) |
F254S |
probably damaging |
Het |
| Serpina1b |
T |
G |
12: 103,698,329 (GRCm39) |
K173N |
possibly damaging |
Het |
| Slc13a5 |
G |
A |
11: 72,136,004 (GRCm39) |
T469I |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,633,522 (GRCm39) |
E655G |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,806,508 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
G |
9: 44,597,228 (GRCm39) |
D514G |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,215,329 (GRCm39) |
L1051Q |
probably damaging |
Het |
| Usp5 |
A |
G |
6: 124,803,350 (GRCm39) |
F4S |
probably damaging |
Het |
| Vmn1r16 |
A |
G |
6: 57,299,879 (GRCm39) |
S248P |
probably damaging |
Het |
|
| Other mutations in Col13a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2016-08-02 |
Incidental Mutation