Incidental Mutation 'R8728:Col19a1'
| ID |
662549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col19a1
|
| Ensembl Gene |
ENSMUSG00000026141 |
| Gene Name |
collagen, type XIX, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
068576-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24365113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 501
(G501R)
|
| 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: G501R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: G501R
| 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: G501R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: G501R
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
G |
14: 66,295,086 (GRCm39) |
L253P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,229,281 (GRCm39) |
G946D |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,119,207 (GRCm39) |
R1648G |
probably damaging |
Het |
| Ak9 |
G |
A |
10: 41,282,959 (GRCm39) |
A1242T |
|
Het |
| Anxa9 |
T |
C |
3: 95,209,979 (GRCm39) |
K127E |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,796,152 (GRCm39) |
S739P |
probably benign |
Het |
| Bloc1s6 |
A |
T |
2: 122,588,026 (GRCm39) |
M122L |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,618,582 (GRCm39) |
M274L |
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,369,331 (GRCm39) |
I990T |
possibly damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,587,793 (GRCm39) |
T514A |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,470,117 (GRCm39) |
|
silent |
Het |
| Celsr3 |
T |
C |
9: 108,723,940 (GRCm39) |
L2899S |
probably benign |
Het |
| Ces1b |
A |
T |
8: 93,798,576 (GRCm39) |
D203E |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,473,365 (GRCm39) |
N753S |
probably benign |
Het |
| Cym |
A |
G |
3: 107,125,991 (GRCm39) |
F91L |
possibly damaging |
Het |
| Cyp2c67 |
T |
G |
19: 39,614,605 (GRCm39) |
R307S |
probably damaging |
Het |
| Cyp3a59 |
G |
A |
5: 146,035,122 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Dagla |
G |
A |
19: 10,225,771 (GRCm39) |
R798C |
probably damaging |
Het |
| Dcaf1 |
C |
T |
9: 106,724,005 (GRCm39) |
R478C |
possibly damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,109,929 (GRCm39) |
L28P |
probably benign |
Het |
| Ddr2 |
T |
C |
1: 169,829,552 (GRCm39) |
D234G |
possibly damaging |
Het |
| Fam83a |
T |
A |
15: 57,873,062 (GRCm39) |
M297K |
possibly damaging |
Het |
| Galnt18 |
T |
A |
7: 111,119,243 (GRCm39) |
D426V |
probably damaging |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,438,793 (GRCm39) |
I32V |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,601 (GRCm39) |
Y96C |
unknown |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,332 (GRCm39) |
K441R |
probably benign |
Het |
| Impdh2 |
C |
T |
9: 108,437,562 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,216,334 (GRCm39) |
R358Q |
probably damaging |
Het |
| Kctd18 |
G |
T |
1: 58,002,289 (GRCm39) |
D179E |
probably damaging |
Het |
| Krt13 |
T |
G |
11: 100,012,318 (GRCm39) |
S2R |
probably null |
Het |
| Krt78 |
A |
T |
15: 101,856,225 (GRCm39) |
S529T |
probably benign |
Het |
| Krtap4-7 |
C |
G |
11: 99,534,788 (GRCm39) |
C25S |
unknown |
Het |
| Lama1 |
T |
C |
17: 68,125,663 (GRCm39) |
I2940T |
|
Het |
| Lmnb2 |
A |
G |
10: 80,740,913 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
A |
T |
7: 138,822,555 (GRCm39) |
E482V |
probably damaging |
Het |
| Lrrc72 |
G |
A |
12: 36,258,656 (GRCm39) |
T67M |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,701,753 (GRCm39) |
C789* |
probably null |
Het |
| Mei1 |
T |
G |
15: 81,966,182 (GRCm39) |
V268G |
|
Het |
| Mical3 |
C |
A |
6: 120,950,514 (GRCm39) |
A966S |
probably damaging |
Het |
| Mmp10 |
C |
T |
9: 7,502,480 (GRCm39) |
P29L |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,935,122 (GRCm39) |
F186L |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,754,952 (GRCm38) |
T1609S |
unknown |
Het |
| Myrfl |
A |
T |
10: 116,634,545 (GRCm39) |
C616* |
probably null |
Het |
| Ncor1 |
C |
T |
11: 62,221,685 (GRCm39) |
A946T |
probably benign |
Het |
| Or10al6 |
C |
A |
17: 38,082,642 (GRCm39) |
L33M |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,027 (GRCm39) |
T262A |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,104 (GRCm39) |
Y81C |
probably benign |
Het |
| Plekhh1 |
C |
A |
12: 79,115,862 (GRCm39) |
Q802K |
possibly damaging |
Het |
| Pnldc1 |
A |
T |
17: 13,116,165 (GRCm39) |
F279Y |
probably damaging |
Het |
| Psmb5 |
A |
T |
14: 54,855,261 (GRCm39) |
L63Q |
probably damaging |
Het |
| Rasa3 |
C |
T |
8: 13,636,873 (GRCm39) |
|
probably null |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Rnf38 |
A |
G |
4: 44,131,615 (GRCm39) |
S421P |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,562,703 (GRCm39) |
V238A |
probably damaging |
Het |
| Sesn1 |
G |
T |
10: 41,779,771 (GRCm39) |
G402W |
probably damaging |
Het |
| Six4 |
A |
G |
12: 73,159,180 (GRCm39) |
V260A |
probably benign |
Het |
| Srrm2 |
G |
A |
17: 24,038,831 (GRCm39) |
R1825Q |
unknown |
Het |
| Stat1 |
G |
A |
1: 52,178,353 (GRCm39) |
W262* |
probably null |
Het |
| Tcf20 |
A |
T |
15: 82,739,158 (GRCm39) |
D764E |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,962,065 (GRCm39) |
N585D |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,133,821 (GRCm39) |
L1039H |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,974,934 (GRCm39) |
V86A |
probably benign |
Het |
| Ttc39b |
A |
G |
4: 83,171,247 (GRCm39) |
I202T |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,460 (GRCm39) |
F124S |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,133 (GRCm39) |
F29Y |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,559,079 (GRCm39) |
M281L |
probably benign |
Het |
| Zfand2a |
C |
T |
5: 139,467,753 (GRCm39) |
V40M |
possibly damaging |
Het |
| Zfp865 |
G |
C |
7: 5,034,819 (GRCm39) |
A935P |
probably 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 |
|
|
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 |
|
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'- AATAATTGTAGCCAGTGGGGTG -3'
(R):5'- CATCTGGACTCAGGTTGAACC -3'
Sequencing Primer
(F):5'- AAGTCTCCCAGATCATCTTGATG -3'
(R):5'- CTGGACTCAGGTTGAACCATATG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation