Incidental Mutation 'IGL03102:Col19a1'
| ID |
418781 |
| 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 # |
IGL03102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24367134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 483
(G483C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
| AlphaFold |
Q0VF58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051344
AA Change: G483C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: G483C
| 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 damaging
Transcript: ENSMUST00000115244
AA Change: G483C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: G483C
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
C |
7: 80,744,804 (GRCm39) |
|
probably null |
Het |
| Alyref |
G |
A |
11: 120,488,591 (GRCm39) |
P79L |
possibly damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,231 (GRCm39) |
D74G |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,718,857 (GRCm39) |
D586E |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,252,022 (GRCm39) |
Y79* |
probably null |
Het |
| Cnot3 |
C |
A |
7: 3,659,155 (GRCm39) |
S467* |
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,903,457 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
A |
C |
9: 20,715,931 (GRCm39) |
|
probably null |
Het |
| Dctn5 |
A |
T |
7: 121,732,382 (GRCm39) |
N9I |
probably benign |
Het |
| Emc10 |
T |
A |
7: 44,141,413 (GRCm39) |
N225I |
probably damaging |
Het |
| Fam219b |
A |
G |
9: 57,447,981 (GRCm39) |
Y158C |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,874,394 (GRCm39) |
V2273A |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,339,661 (GRCm39) |
H651Q |
possibly damaging |
Het |
| Gm4076 |
T |
A |
13: 85,275,438 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
| Ifnab |
T |
G |
4: 88,609,062 (GRCm39) |
T135P |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,926,608 (GRCm39) |
I979V |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,403,282 (GRCm39) |
M1097I |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,900,637 (GRCm39) |
V206A |
probably damaging |
Het |
| Kel |
T |
C |
6: 41,679,917 (GRCm39) |
K91R |
probably benign |
Het |
| Kirrel1 |
G |
T |
3: 86,990,807 (GRCm39) |
R672S |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,753,424 (GRCm39) |
M143T |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,833,289 (GRCm39) |
I122V |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,250,694 (GRCm39) |
S353P |
probably damaging |
Het |
| Mtfr1l |
T |
A |
4: 134,259,543 (GRCm39) |
Q11L |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,416,806 (GRCm39) |
V3251M |
probably benign |
Het |
| Mup8 |
C |
T |
4: 60,219,746 (GRCm39) |
D174N |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,176,768 (GRCm39) |
E1015D |
probably benign |
Het |
| Or10ak14 |
C |
A |
4: 118,611,131 (GRCm39) |
L201F |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,801,668 (GRCm39) |
F188L |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 11,058,719 (GRCm39) |
F13L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,722 (GRCm39) |
S676T |
possibly damaging |
Het |
| Pdia6 |
T |
A |
12: 17,331,040 (GRCm39) |
|
probably null |
Het |
| Pfkm |
A |
T |
15: 98,024,266 (GRCm39) |
I425F |
possibly damaging |
Het |
| Pikfyve |
C |
T |
1: 65,291,626 (GRCm39) |
R1282* |
probably null |
Het |
| Pole |
C |
T |
5: 110,444,939 (GRCm39) |
L432F |
probably damaging |
Het |
| Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
| Prr5 |
G |
T |
15: 84,650,508 (GRCm39) |
|
probably benign |
Het |
| Prxl2b |
T |
C |
4: 154,981,058 (GRCm39) |
|
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,883,487 (GRCm39) |
Y343H |
probably damaging |
Het |
| Ptprj |
C |
T |
2: 90,309,312 (GRCm39) |
R51K |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,386,118 (GRCm39) |
D103G |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,322,989 (GRCm39) |
I768F |
possibly damaging |
Het |
| Robo4 |
T |
A |
9: 37,315,481 (GRCm39) |
V275E |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,650,468 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,623,269 (GRCm39) |
H94R |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,490,553 (GRCm39) |
N211K |
possibly damaging |
Het |
| Strbp |
T |
C |
2: 37,476,515 (GRCm39) |
|
probably benign |
Het |
| Tceanc2 |
T |
A |
4: 107,004,878 (GRCm39) |
H90L |
probably damaging |
Het |
| Tdrkh |
A |
T |
3: 94,331,844 (GRCm39) |
T90S |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,823 (GRCm39) |
D1288G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,532,861 (GRCm39) |
D2447G |
possibly damaging |
Het |
| Tmem63c |
G |
A |
12: 87,112,323 (GRCm39) |
V141M |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
| Tprkb |
T |
A |
6: 85,901,400 (GRCm39) |
C13S |
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,877,385 (GRCm39) |
T184A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,302 (GRCm39) |
M504K |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,597,567 (GRCm39) |
S18036* |
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,688,392 (GRCm39) |
C2914S |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,032 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,134 (GRCm39) |
H471R |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,983,951 (GRCm39) |
T384A |
probably benign |
Het |
| Zfyve16 |
C |
T |
13: 92,648,325 (GRCm39) |
E910K |
possibly damaging |
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 |
|
|
IGL02505:Col19a1
|
APN |
1 |
24,339,665 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation