Incidental Mutation 'R0826:Col19a1'
| ID |
78205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col19a1
|
| Ensembl Gene |
ENSMUSG00000026141 |
| Gene Name |
collagen, type XIX, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
039006-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0826 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24565467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 288
(K288R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
| AlphaFold |
Q0VF58 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000051344
AA Change: K288R
|
| SMART Domains |
Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: K288R
| 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 |
unknown
Transcript: ENSMUST00000115244
AA Change: K288R
|
| SMART Domains |
Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: K288R
| 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 |
|
| Meta Mutation Damage Score |
0.0751 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 95.7%
- 20x: 86.3%
|
| Validation Efficiency |
100% (69/69) |
| 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 |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4931406C07Rik |
T |
C |
9: 15,203,292 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
A |
13: 70,916,811 (GRCm39) |
D727V |
possibly damaging |
Het |
| Anxa10 |
A |
C |
8: 62,529,318 (GRCm39) |
L133* |
probably null |
Het |
| Arfgef3 |
G |
A |
10: 18,465,414 (GRCm39) |
T2143I |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,950 (GRCm39) |
T333A |
probably benign |
Het |
| Arhgef40 |
A |
G |
14: 52,238,450 (GRCm39) |
T1310A |
probably benign |
Het |
| Atg10 |
C |
T |
13: 91,084,705 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
A |
G |
3: 101,492,169 (GRCm39) |
F569S |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,464,203 (GRCm39) |
W849R |
possibly damaging |
Het |
| Baz1a |
A |
T |
12: 54,977,097 (GRCm39) |
Y9* |
probably null |
Het |
| Catsperg2 |
C |
T |
7: 29,405,049 (GRCm39) |
D702N |
possibly damaging |
Het |
| Clasrp |
G |
T |
7: 19,318,226 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
A |
G |
6: 18,405,177 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,025,864 (GRCm39) |
I828F |
probably benign |
Het |
| Dpf2 |
G |
T |
19: 5,957,155 (GRCm39) |
Q23K |
probably damaging |
Het |
| Dsc3 |
T |
A |
18: 20,114,229 (GRCm39) |
I342F |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,671,614 (GRCm39) |
L460P |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,380,090 (GRCm39) |
E871G |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,040,780 (GRCm39) |
|
probably null |
Het |
| Fam243 |
G |
A |
16: 92,118,075 (GRCm39) |
S71L |
probably benign |
Het |
| Fpr-rs7 |
A |
T |
17: 20,333,888 (GRCm39) |
S201T |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,797 (GRCm39) |
F685S |
probably damaging |
Het |
| Helz2 |
C |
T |
2: 180,882,646 (GRCm39) |
R49H |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,667,375 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,402,049 (GRCm39) |
|
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kif21a |
A |
G |
15: 90,881,744 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
A |
1: 193,013,216 (GRCm39) |
C480* |
probably null |
Het |
| Lamc2 |
A |
G |
1: 153,027,828 (GRCm39) |
S199P |
probably damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,059,676 (GRCm39) |
N183S |
probably benign |
Het |
| Lsm14a |
C |
A |
7: 34,070,470 (GRCm39) |
|
probably benign |
Het |
| Mest |
C |
A |
6: 30,742,813 (GRCm39) |
H146Q |
probably damaging |
Het |
| Mmp27 |
T |
C |
9: 7,579,010 (GRCm39) |
V339A |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,426,285 (GRCm39) |
|
probably benign |
Het |
| Myoz1 |
C |
T |
14: 20,703,679 (GRCm39) |
|
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,133 (GRCm39) |
M286V |
probably benign |
Het |
| Optc |
T |
C |
1: 133,832,893 (GRCm39) |
K69R |
probably benign |
Het |
| Or13c3 |
C |
T |
4: 52,855,566 (GRCm39) |
V316I |
probably benign |
Het |
| Or2y1c |
A |
T |
11: 49,361,158 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or4a77 |
A |
C |
2: 89,487,181 (GRCm39) |
N201K |
possibly damaging |
Het |
| Or8g18 |
C |
T |
9: 39,149,725 (GRCm39) |
M1I |
probably null |
Het |
| Osbpl3 |
A |
T |
6: 50,323,357 (GRCm39) |
M242K |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,267,624 (GRCm39) |
S64C |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,245,672 (GRCm39) |
S859P |
possibly damaging |
Het |
| Ppp1r12a |
G |
T |
10: 108,066,414 (GRCm39) |
A202S |
possibly damaging |
Het |
| Rab32 |
A |
T |
10: 10,426,611 (GRCm39) |
F112I |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,445,245 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
C |
T |
7: 125,891,007 (GRCm39) |
P147L |
probably damaging |
Het |
| Shpk |
T |
A |
11: 73,094,857 (GRCm39) |
M91K |
probably damaging |
Het |
| Slco6c1 |
C |
T |
1: 97,055,826 (GRCm39) |
S25N |
probably benign |
Het |
| Snx2 |
A |
T |
18: 53,327,594 (GRCm39) |
T107S |
probably benign |
Het |
| Tle2 |
G |
A |
10: 81,422,148 (GRCm39) |
V397I |
possibly damaging |
Het |
| Tmem131l |
T |
C |
3: 83,805,724 (GRCm39) |
D1573G |
probably damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,011,708 (GRCm39) |
|
probably benign |
Het |
| Tpmt |
T |
C |
13: 47,194,965 (GRCm39) |
E36G |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,032,688 (GRCm39) |
T257S |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,815,932 (GRCm39) |
L150P |
probably benign |
Het |
| Upf3a |
G |
C |
8: 13,848,338 (GRCm39) |
G378A |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,011,966 (GRCm39) |
K514* |
probably null |
Het |
| Zfp11 |
A |
G |
5: 129,734,589 (GRCm39) |
Y291H |
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,441,378 (GRCm39) |
D399G |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAATTGAGGCACTAGGCAGC -3'
(R):5'- ATGGGAGCTAACTGCAAGAACTGAC -3'
Sequencing Primer
(F):5'- GTTGAAGATCAGGCACTTTCC -3'
(R):5'- TCCAGAGCAAGACGACTTTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation