Incidental Mutation 'R6191:Col19a1'
| ID |
502527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col19a1
|
| Ensembl Gene |
ENSMUSG00000026141 |
| Gene Name |
collagen, type XIX, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
044331-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24356474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 673
(P673Q)
|
| 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: P673Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: P673Q
| 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: P673Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: P673Q
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (84/85) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
C |
9: 55,909,807 (GRCm39) |
D144E |
possibly damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,419 (GRCm39) |
K334N |
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,846,380 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
C |
A |
9: 21,210,601 (GRCm39) |
V343F |
probably benign |
Het |
| Apol6 |
T |
C |
15: 76,940,098 (GRCm39) |
V307A |
probably benign |
Het |
| Arsi |
C |
A |
18: 61,045,544 (GRCm39) |
A78E |
probably damaging |
Het |
| B2m |
A |
T |
2: 121,981,396 (GRCm39) |
N37I |
possibly damaging |
Het |
| Bltp3b |
G |
T |
10: 89,641,180 (GRCm39) |
G784C |
possibly damaging |
Het |
| C8a |
T |
C |
4: 104,703,100 (GRCm39) |
K363R |
probably benign |
Het |
| Ccdc117 |
C |
A |
11: 5,484,242 (GRCm39) |
|
probably null |
Het |
| Ccdc154 |
C |
A |
17: 25,386,945 (GRCm39) |
Q325K |
probably damaging |
Het |
| Cd300e |
A |
T |
11: 114,945,359 (GRCm39) |
V145E |
possibly damaging |
Het |
| Csn2 |
A |
G |
5: 87,843,885 (GRCm39) |
|
probably null |
Het |
| Ctnna1 |
T |
C |
18: 35,307,408 (GRCm39) |
V135A |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,154,632 (GRCm39) |
D216V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,431,412 (GRCm39) |
H410R |
probably benign |
Het |
| Dock2 |
C |
T |
11: 34,181,652 (GRCm39) |
R1637H |
possibly damaging |
Het |
| Dspp |
A |
G |
5: 104,325,214 (GRCm39) |
N526D |
unknown |
Het |
| Frem2 |
T |
C |
3: 53,562,701 (GRCm39) |
H602R |
probably benign |
Het |
| Galc |
A |
T |
12: 98,218,293 (GRCm39) |
H186Q |
probably damaging |
Het |
| Grina |
T |
C |
15: 76,133,218 (GRCm39) |
V262A |
probably damaging |
Het |
| Gse1 |
G |
A |
8: 121,280,542 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
C |
A |
17: 34,312,842 (GRCm39) |
Q40K |
probably damaging |
Het |
| Hfm1 |
C |
A |
5: 107,034,419 (GRCm39) |
D763Y |
possibly damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,348,758 (GRCm39) |
Y4925N |
probably damaging |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,029 (GRCm39) |
R366L |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Iqank1 |
T |
C |
15: 75,918,218 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,229,833 (GRCm39) |
V1221A |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,297,584 (GRCm39) |
N285S |
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,620,081 (GRCm39) |
N181K |
probably damaging |
Het |
| Kmt2a |
C |
A |
9: 44,738,125 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,827,752 (GRCm39) |
D2170G |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,822,404 (GRCm39) |
T2890S |
probably damaging |
Het |
| Lsm2 |
T |
A |
17: 35,201,131 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
G |
T |
10: 19,899,415 (GRCm39) |
C232F |
probably damaging |
Het |
| Mapk9 |
T |
G |
11: 49,754,383 (GRCm39) |
D45E |
probably damaging |
Het |
| Mpnd |
T |
C |
17: 56,319,482 (GRCm39) |
V315A |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 88,030,900 (GRCm39) |
I926V |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,650,521 (GRCm39) |
R1345H |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,457,058 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
C |
9: 58,796,312 (GRCm39) |
D1205G |
probably damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,559,291 (GRCm39) |
S259G |
probably benign |
Het |
| Nkain4 |
G |
A |
2: 180,577,796 (GRCm39) |
P186L |
probably damaging |
Het |
| Nkain4 |
G |
A |
2: 180,577,797 (GRCm39) |
P186S |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,109,283 (GRCm39) |
R73* |
probably null |
Het |
| Nr5a2 |
T |
C |
1: 136,818,536 (GRCm39) |
D330G |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,572,153 (GRCm39) |
L299P |
probably damaging |
Het |
| Or2v1 |
T |
C |
11: 49,025,877 (GRCm39) |
L286P |
probably damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,296 (GRCm39) |
V145A |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,279 (GRCm39) |
V319E |
probably benign |
Het |
| Pcsk6 |
T |
A |
7: 65,578,875 (GRCm39) |
D129E |
probably benign |
Het |
| Pld5 |
G |
A |
1: 175,798,100 (GRCm39) |
T433I |
probably benign |
Het |
| Plin1 |
A |
T |
7: 79,371,347 (GRCm39) |
L459H |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,284,499 (GRCm39) |
V121A |
probably damaging |
Het |
| Pxdn |
A |
T |
12: 30,032,716 (GRCm39) |
I167F |
possibly damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,320,384 (GRCm39) |
S569P |
probably damaging |
Het |
| Rfng |
T |
A |
11: 120,673,516 (GRCm39) |
T202S |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,730,696 (GRCm39) |
S266P |
probably benign |
Het |
| Sema3c |
G |
T |
5: 17,858,804 (GRCm39) |
V68L |
probably damaging |
Het |
| Slco6c1 |
C |
T |
1: 96,993,808 (GRCm39) |
R645H |
possibly damaging |
Het |
| Slfn8 |
A |
G |
11: 82,907,626 (GRCm39) |
Y306H |
possibly damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,105 (GRCm39) |
D144G |
probably damaging |
Het |
| St7l |
T |
G |
3: 104,775,349 (GRCm39) |
F75C |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,992,468 (GRCm39) |
I145V |
probably damaging |
Het |
| Tekt3 |
C |
T |
11: 62,968,999 (GRCm39) |
A242V |
probably damaging |
Het |
| Tex44 |
A |
G |
1: 86,354,306 (GRCm39) |
|
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,844,988 (GRCm39) |
Q88R |
probably benign |
Het |
| Trav8n-2 |
T |
A |
14: 53,583,744 (GRCm39) |
I67N |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,677,770 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,861,051 (GRCm39) |
L253* |
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,201,289 (GRCm39) |
N1150K |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 187,995,298 (GRCm39) |
L23* |
probably null |
Het |
| Usp22 |
T |
A |
11: 61,065,602 (GRCm39) |
N37I |
probably benign |
Het |
| Usp53 |
T |
A |
3: 122,743,390 (GRCm39) |
K515N |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,322,702 (GRCm39) |
K6E |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,875,918 (GRCm39) |
V1530M |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,153,612 (GRCm39) |
I485V |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,155,156 (GRCm39) |
Y356H |
probably damaging |
Het |
| Zcchc2 |
A |
G |
1: 105,917,900 (GRCm39) |
|
probably benign |
Het |
| Zfp345 |
A |
C |
2: 150,315,010 (GRCm39) |
Y176D |
probably benign |
Het |
| Zfp598 |
T |
C |
17: 24,896,850 (GRCm39) |
F238S |
possibly damaging |
Het |
| Zkscan17 |
T |
C |
11: 59,393,820 (GRCm39) |
D10G |
probably damaging |
Het |
| Zmat4 |
T |
G |
8: 24,392,083 (GRCm39) |
M13R |
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 |
|
|
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'- TACTCACCAGAATTGAGAAGAACAG -3'
(R):5'- TGGATTGCCAGGAACTCCAG -3'
Sequencing Primer
(F):5'- CCCTTAGGAGATAAGTATGCATCTC -3'
(R):5'- TTGCCAGGAACTCCAGGGATG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation