Incidental Mutation 'R3939:Col13a1'
| ID |
308609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col13a1
|
| Ensembl Gene |
ENSMUSG00000058806 |
| Gene Name |
collagen, type XIII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
040826-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3939 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
61674015-61814887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61698861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 491
(I491V)
|
| 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 |
unknown
Transcript: ENSMUST00000105452
AA Change: I482V
|
| SMART Domains |
Protein: ENSMUSP00000101092
Gene: ENSMUSG00000058806
AA Change: I482V
| 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 |
unknown
Transcript: ENSMUST00000105453
AA Change: I460V
|
| SMART Domains |
Protein: ENSMUSP00000101093
Gene: ENSMUSG00000058806
AA Change: I460V
| 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 |
unknown
Transcript: ENSMUST00000105454
AA Change: I491V
|
| SMART Domains |
Protein: ENSMUSP00000101094
Gene: ENSMUSG00000058806
AA Change: I491V
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145469
AA Change: I31V
|
| SMART Domains |
Protein: ENSMUSP00000117248
Gene: ENSMUSG00000058806
AA Change: I31V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
8 |
67 |
1.1e-12 |
PFAM |
|
Pfam:Collagen
|
93 |
156 |
7.2e-12 |
PFAM |
|
Pfam:Collagen
|
170 |
239 |
9.6e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.0595 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,359,501 (GRCm39) |
R169L |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,497,222 (GRCm39) |
D531G |
possibly damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,710 (GRCm39) |
V231I |
probably benign |
Het |
| Dennd4c |
T |
G |
4: 86,692,517 (GRCm39) |
V9G |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
G |
4: 109,719,076 (GRCm39) |
L394R |
probably damaging |
Het |
| Fgfr4 |
G |
A |
13: 55,304,307 (GRCm39) |
D116N |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,293,053 (GRCm39) |
Y518H |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,211 (GRCm39) |
L542F |
possibly damaging |
Het |
| Gm4922 |
T |
A |
10: 18,660,362 (GRCm39) |
E120V |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,457,618 (GRCm39) |
I285N |
probably benign |
Het |
| Kcnd2 |
C |
A |
6: 21,217,095 (GRCm39) |
D266E |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,133,089 (GRCm39) |
W63* |
probably null |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,058,627 (GRCm39) |
V2208I |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,135 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,515,849 (GRCm39) |
I1207T |
probably damaging |
Het |
| Obox7 |
G |
A |
7: 14,397,972 (GRCm39) |
G4D |
probably benign |
Het |
| Ogdh |
G |
A |
11: 6,300,655 (GRCm39) |
W827* |
probably null |
Het |
| Or13g1 |
T |
C |
7: 85,955,437 (GRCm39) |
M295V |
probably benign |
Het |
| Or4c118 |
T |
A |
2: 88,974,474 (GRCm39) |
K298* |
probably null |
Het |
| Or4k15c |
A |
G |
14: 50,321,173 (GRCm39) |
*322Q |
probably null |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sbpl |
T |
A |
17: 24,172,617 (GRCm39) |
I101L |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,975,151 (GRCm39) |
M1L |
probably benign |
Het |
| Stxbp6 |
A |
G |
12: 44,949,641 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,908,239 (GRCm39) |
V359A |
probably damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,471,574 (GRCm39) |
D785G |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,314,473 (GRCm39) |
H355Y |
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 |
|
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 |
|
|
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'- GCTTGGTGGTCAAAGGACTG -3'
(R):5'- ACGCAGGTCATAGGATGCTC -3'
Sequencing Primer
(F):5'- CTCACTGGTACTGCATGAAAGCTG -3'
(R):5'- AGGTCATAGGATGCTCGCCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation