Incidental Mutation 'IGL02505:Col19a1'
| ID |
296306 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Col19a1
|
| Ensembl Gene |
ENSMUSG00000026141 |
| Gene Name |
collagen, type XIX, alpha 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 24339665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
| AlphaFold |
Q0VF58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051344
|
| SMART Domains |
Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
TSPN
|
47 |
231 |
1.61e-63 |
SMART |
|
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
288 |
349 |
1e-9 |
PFAM |
|
Pfam:Collagen
|
325 |
391 |
2.2e-10 |
PFAM |
|
Pfam:Collagen
|
376 |
442 |
1.4e-8 |
PFAM |
|
Pfam:Collagen
|
436 |
500 |
2.9e-9 |
PFAM |
|
Pfam:Collagen
|
474 |
536 |
6.3e-10 |
PFAM |
|
Pfam:Collagen
|
519 |
579 |
5.6e-10 |
PFAM |
|
Pfam:Collagen
|
559 |
620 |
1.2e-8 |
PFAM |
|
Pfam:Collagen
|
619 |
675 |
8.7e-11 |
PFAM |
|
Pfam:Collagen
|
697 |
774 |
2.4e-8 |
PFAM |
|
Pfam:Collagen
|
753 |
819 |
8.7e-10 |
PFAM |
|
Pfam:Collagen
|
831 |
892 |
8.8e-12 |
PFAM |
|
internal_repeat_2
|
905 |
943 |
3.52e-11 |
PROSPERO |
|
internal_repeat_1
|
905 |
980 |
8.61e-26 |
PROSPERO |
|
internal_repeat_2
|
947 |
982 |
3.52e-11 |
PROSPERO |
|
low complexity region
|
983 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1030 |
1042 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115244
|
| SMART Domains |
Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
TSPN
|
47 |
231 |
1.61e-63 |
SMART |
|
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
288 |
347 |
3.1e-9 |
PFAM |
|
Pfam:Collagen
|
330 |
391 |
1.1e-9 |
PFAM |
|
internal_repeat_4
|
455 |
492 |
1.88e-5 |
PROSPERO |
|
Pfam:Collagen
|
519 |
579 |
2e-9 |
PFAM |
|
Pfam:Collagen
|
559 |
620 |
4.9e-8 |
PFAM |
|
Pfam:Collagen
|
619 |
675 |
3.5e-10 |
PFAM |
|
low complexity region
|
723 |
741 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
753 |
819 |
2.8e-9 |
PFAM |
|
Pfam:Collagen
|
831 |
892 |
3.9e-11 |
PFAM |
|
internal_repeat_2
|
905 |
943 |
1.18e-11 |
PROSPERO |
|
internal_repeat_1
|
905 |
980 |
8.89e-27 |
PROSPERO |
|
internal_repeat_2
|
947 |
982 |
1.18e-11 |
PROSPERO |
|
low complexity region
|
983 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1048 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144297
|
| 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 type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
C |
A |
9: 63,524,096 (GRCm39) |
L68M |
probably damaging |
Het |
| Abca13 |
T |
G |
11: 9,531,498 (GRCm39) |
L4575W |
probably damaging |
Het |
| Abcb11 |
A |
T |
2: 69,076,105 (GRCm39) |
V1201D |
probably damaging |
Het |
| Aldoa |
G |
T |
7: 126,395,166 (GRCm39) |
A252E |
probably damaging |
Het |
| Ap1b1 |
C |
T |
11: 4,981,700 (GRCm39) |
A536V |
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,115,957 (GRCm39) |
H233R |
possibly damaging |
Het |
| Arhgef40 |
A |
T |
14: 52,238,320 (GRCm39) |
E1266D |
probably damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,062,642 (GRCm39) |
V622M |
probably damaging |
Het |
| Aup1 |
A |
G |
6: 83,032,258 (GRCm39) |
T142A |
probably benign |
Het |
| Bcl6 |
A |
T |
16: 23,796,319 (GRCm39) |
I36N |
probably damaging |
Het |
| Best1 |
A |
G |
19: 9,966,514 (GRCm39) |
S358P |
probably damaging |
Het |
| Cadps |
T |
G |
14: 12,449,759 (GRCm38) |
Q1150P |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,403 (GRCm39) |
E322D |
possibly damaging |
Het |
| Cd300ld2 |
A |
T |
11: 114,904,513 (GRCm39) |
M118K |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,856,075 (GRCm39) |
L705P |
probably damaging |
Het |
| Cep170b |
T |
G |
12: 112,709,504 (GRCm39) |
N436K |
probably damaging |
Het |
| Chil6 |
T |
A |
3: 106,313,278 (GRCm39) |
I24F |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,767,782 (GRCm39) |
K48* |
probably null |
Het |
| Cops7b |
C |
A |
1: 86,520,043 (GRCm39) |
Q65K |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,349,069 (GRCm39) |
L133H |
probably damaging |
Het |
| Dkc1 |
T |
C |
X: 74,152,339 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,900,767 (GRCm39) |
Y134H |
probably damaging |
Het |
| F8 |
C |
A |
X: 74,423,204 (GRCm39) |
|
probably benign |
Het |
| Fus |
G |
A |
7: 127,580,679 (GRCm39) |
R252Q |
possibly damaging |
Het |
| Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
| Gm15821 |
T |
C |
17: 34,433,259 (GRCm39) |
|
probably benign |
Het |
| Gm5117 |
C |
A |
8: 32,228,344 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
G |
17: 35,644,152 (GRCm39) |
I45V |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,847,496 (GRCm39) |
|
probably null |
Het |
| Ifi204 |
T |
C |
1: 173,583,220 (GRCm39) |
K333E |
probably benign |
Het |
| Ildr1 |
G |
A |
16: 36,536,526 (GRCm39) |
G185D |
probably damaging |
Het |
| Itgb2 |
G |
A |
10: 77,383,052 (GRCm39) |
D141N |
probably damaging |
Het |
| Kdm1b |
G |
T |
13: 47,214,331 (GRCm39) |
D226Y |
probably damaging |
Het |
| Krt77 |
A |
G |
15: 101,769,381 (GRCm39) |
L460P |
probably damaging |
Het |
| Lamp3 |
A |
G |
16: 19,474,207 (GRCm39) |
I389T |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,143 (GRCm39) |
V336A |
probably damaging |
Het |
| Mars1 |
C |
A |
10: 127,140,113 (GRCm39) |
E414* |
probably null |
Het |
| Mpg |
T |
C |
11: 32,180,042 (GRCm39) |
V190A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,937,626 (GRCm39) |
I742M |
possibly damaging |
Het |
| Nell2 |
A |
T |
15: 95,194,144 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,314,057 (GRCm39) |
D370G |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,009,578 (GRCm39) |
E28G |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or56a3 |
A |
T |
7: 104,735,540 (GRCm39) |
I206L |
probably benign |
Het |
| Or7a42 |
G |
T |
10: 78,791,767 (GRCm39) |
V243F |
probably benign |
Het |
| Or8b12c |
G |
A |
9: 37,715,627 (GRCm39) |
C140Y |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,899 (GRCm39) |
N589S |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,359,848 (GRCm39) |
L901P |
probably damaging |
Het |
| Plekhg1 |
G |
T |
10: 3,907,139 (GRCm39) |
K685N |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,865,652 (GRCm39) |
*419R |
probably null |
Het |
| Ptk2b |
G |
T |
14: 66,391,692 (GRCm39) |
N905K |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,676,071 (GRCm39) |
I395V |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,822,438 (GRCm39) |
E912G |
possibly damaging |
Het |
| Rngtt |
T |
C |
4: 33,337,936 (GRCm39) |
V253A |
possibly damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,594,002 (GRCm39) |
Y169H |
possibly damaging |
Het |
| Slc49a4 |
G |
T |
16: 35,555,928 (GRCm39) |
D177E |
probably benign |
Het |
| Susd4 |
C |
A |
1: 182,719,645 (GRCm39) |
T420K |
probably benign |
Het |
| Tdrd3 |
G |
A |
14: 87,749,118 (GRCm39) |
G676D |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,946,587 (GRCm39) |
K47E |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,942,743 (GRCm39) |
G1308* |
probably null |
Het |
| Tmprss15 |
A |
T |
16: 78,784,629 (GRCm39) |
D675E |
probably benign |
Het |
| Vmn1r84 |
A |
G |
7: 12,096,346 (GRCm39) |
C104R |
probably damaging |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,378 (GRCm39) |
M785L |
probably benign |
Het |
| Vmn2r85 |
G |
T |
10: 130,261,449 (GRCm39) |
T296K |
probably damaging |
Het |
| Wdr3 |
C |
T |
3: 100,059,290 (GRCm39) |
S343N |
probably benign |
Het |
| Yju2 |
G |
T |
17: 56,269,051 (GRCm39) |
G53V |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,690,993 (GRCm39) |
M515L |
possibly damaging |
Het |
| Zfp735 |
A |
G |
11: 73,580,626 (GRCm39) |
I42V |
probably benign |
Het |
| Zswim5 |
A |
T |
4: 116,819,749 (GRCm39) |
M385L |
probably benign |
Het |
|
| Other mutations in Col19a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Col19a1
|
APN |
1 |
24,600,387 (GRCm39) |
missense |
unknown |
|
|
IGL00514:Col19a1
|
APN |
1 |
24,576,013 (GRCm39) |
missense |
unknown |
|
|
IGL00756:Col19a1
|
APN |
1 |
24,362,023 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01408:Col19a1
|
APN |
1 |
24,345,331 (GRCm39) |
splice site |
probably benign |
|
|
IGL01608:Col19a1
|
APN |
1 |
24,321,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01664:Col19a1
|
APN |
1 |
24,600,416 (GRCm39) |
missense |
unknown |
|
|
IGL01906:Col19a1
|
APN |
1 |
24,356,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01916:Col19a1
|
APN |
1 |
24,573,322 (GRCm39) |
missense |
unknown |
|
|
IGL02040:Col19a1
|
APN |
1 |
24,351,126 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02407:Col19a1
|
APN |
1 |
24,351,453 (GRCm39) |
splice site |
probably null |
|
|
IGL02606:Col19a1
|
APN |
1 |
24,573,197 (GRCm39) |
nonsense |
probably null |
|
|
IGL02659:Col19a1
|
APN |
1 |
24,573,115 (GRCm39) |
missense |
unknown |
|
|
IGL02815:Col19a1
|
APN |
1 |
24,324,332 (GRCm39) |
splice site |
probably null |
|
|
IGL02880:Col19a1
|
APN |
1 |
24,365,054 (GRCm39) |
splice site |
probably benign |
|
|
IGL02897:Col19a1
|
APN |
1 |
24,573,179 (GRCm39) |
missense |
unknown |
|
|
IGL03102:Col19a1
|
APN |
1 |
24,367,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Col19a1
|
UTSW |
1 |
24,598,825 (GRCm39) |
missense |
unknown |
|
|
R0109:Col19a1
|
UTSW |
1 |
24,598,849 (GRCm39) |
splice site |
probably null |
|
|
R0124:Col19a1
|
UTSW |
1 |
24,565,539 (GRCm39) |
missense |
unknown |
|
|
R0326:Col19a1
|
UTSW |
1 |
24,324,132 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0390:Col19a1
|
UTSW |
1 |
24,328,736 (GRCm39) |
splice site |
probably benign |
|
|
R0675:Col19a1
|
UTSW |
1 |
24,614,536 (GRCm39) |
start gained |
probably benign |
|
|
R0826:Col19a1
|
UTSW |
1 |
24,565,467 (GRCm39) |
missense |
unknown |
|
|
R0948:Col19a1
|
UTSW |
1 |
24,335,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1014:Col19a1
|
UTSW |
1 |
24,340,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1619:Col19a1
|
UTSW |
1 |
24,573,172 (GRCm39) |
missense |
unknown |
|
|
R1691:Col19a1
|
UTSW |
1 |
24,576,022 (GRCm39) |
missense |
unknown |
|
|
R1878:Col19a1
|
UTSW |
1 |
24,356,476 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1901:Col19a1
|
UTSW |
1 |
24,576,078 (GRCm39) |
missense |
unknown |
|
|
R1928:Col19a1
|
UTSW |
1 |
24,490,835 (GRCm39) |
splice site |
probably benign |
|
|
R1940:Col19a1
|
UTSW |
1 |
24,303,831 (GRCm39) |
nonsense |
probably null |
|
|
R2015:Col19a1
|
UTSW |
1 |
24,598,834 (GRCm39) |
missense |
unknown |
|
|
R2571:Col19a1
|
UTSW |
1 |
24,413,712 (GRCm39) |
missense |
unknown |
|
|
R2844:Col19a1
|
UTSW |
1 |
24,598,762 (GRCm39) |
missense |
unknown |
|
|
R2845:Col19a1
|
UTSW |
1 |
24,598,762 (GRCm39) |
missense |
unknown |
|
|
R3107:Col19a1
|
UTSW |
1 |
24,377,017 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3861:Col19a1
|
UTSW |
1 |
24,365,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3872:Col19a1
|
UTSW |
1 |
24,614,408 (GRCm39) |
splice site |
probably benign |
|
|
R4180:Col19a1
|
UTSW |
1 |
24,309,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4195:Col19a1
|
UTSW |
1 |
24,573,133 (GRCm39) |
missense |
unknown |
|
|
R4196:Col19a1
|
UTSW |
1 |
24,573,133 (GRCm39) |
missense |
unknown |
|
|
R4234:Col19a1
|
UTSW |
1 |
24,354,476 (GRCm39) |
splice site |
probably null |
|
|
R4250:Col19a1
|
UTSW |
1 |
24,564,726 (GRCm39) |
missense |
unknown |
|
|
R4396:Col19a1
|
UTSW |
1 |
24,549,947 (GRCm39) |
missense |
unknown |
|
|
R4405:Col19a1
|
UTSW |
1 |
24,573,190 (GRCm39) |
missense |
unknown |
|
|
R4450:Col19a1
|
UTSW |
1 |
24,361,116 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4583:Col19a1
|
UTSW |
1 |
24,600,410 (GRCm39) |
missense |
unknown |
|
|
R4980:Col19a1
|
UTSW |
1 |
24,565,564 (GRCm39) |
missense |
unknown |
|
|
R5222:Col19a1
|
UTSW |
1 |
24,598,721 (GRCm39) |
splice site |
probably null |
|
|
R5407:Col19a1
|
UTSW |
1 |
24,342,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5439:Col19a1
|
UTSW |
1 |
24,332,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Col19a1
|
UTSW |
1 |
24,376,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:Col19a1
|
UTSW |
1 |
24,376,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Col19a1
|
UTSW |
1 |
24,328,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Col19a1
|
UTSW |
1 |
24,367,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Col19a1
|
UTSW |
1 |
24,565,564 (GRCm39) |
missense |
unknown |
|
|
R6152:Col19a1
|
UTSW |
1 |
24,413,702 (GRCm39) |
missense |
unknown |
|
|
R6191:Col19a1
|
UTSW |
1 |
24,356,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6236:Col19a1
|
UTSW |
1 |
24,319,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Col19a1
|
UTSW |
1 |
24,565,533 (GRCm39) |
missense |
unknown |
|
|
R6709:Col19a1
|
UTSW |
1 |
24,321,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6748:Col19a1
|
UTSW |
1 |
24,573,151 (GRCm39) |
missense |
unknown |
|
|
R7098:Col19a1
|
UTSW |
1 |
24,565,555 (GRCm39) |
missense |
unknown |
|
|
R7114:Col19a1
|
UTSW |
1 |
24,377,017 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7292:Col19a1
|
UTSW |
1 |
24,569,089 (GRCm39) |
missense |
unknown |
|
|
R7392:Col19a1
|
UTSW |
1 |
24,573,115 (GRCm39) |
missense |
unknown |
|
|
R7478:Col19a1
|
UTSW |
1 |
24,356,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Col19a1
|
UTSW |
1 |
24,356,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Col19a1
|
UTSW |
1 |
24,356,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Col19a1
|
UTSW |
1 |
24,356,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Col19a1
|
UTSW |
1 |
24,361,165 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7698:Col19a1
|
UTSW |
1 |
24,351,159 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7711:Col19a1
|
UTSW |
1 |
24,569,089 (GRCm39) |
missense |
unknown |
|
|
R7725:Col19a1
|
UTSW |
1 |
24,309,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7831:Col19a1
|
UTSW |
1 |
24,565,563 (GRCm39) |
missense |
unknown |
|
|
R8252:Col19a1
|
UTSW |
1 |
24,319,048 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8728:Col19a1
|
UTSW |
1 |
24,365,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9057:Col19a1
|
UTSW |
1 |
24,549,962 (GRCm39) |
missense |
unknown |
|
|
R9210:Col19a1
|
UTSW |
1 |
24,500,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9212:Col19a1
|
UTSW |
1 |
24,500,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9712:Col19a1
|
UTSW |
1 |
24,367,148 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9777:Col19a1
|
UTSW |
1 |
24,318,904 (GRCm39) |
missense |
unknown |
|
|
Z1088:Col19a1
|
UTSW |
1 |
24,319,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation