Incidental Mutation 'R7392:Col19a1'
| ID |
573479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col19a1
|
| Ensembl Gene |
ENSMUSG00000026141 |
| Gene Name |
collagen, type XIX, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
045474-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 24573115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 219
(D219A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051344]
[ENSMUST00000115244]
|
| AlphaFold |
Q0VF58 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000051344
AA Change: D219A
|
| SMART Domains |
Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: D219A
| 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: D219A
|
| SMART Domains |
Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: D219A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,990 (GRCm39) |
F564L |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,797,126 (GRCm39) |
I499T |
probably damaging |
Het |
| Adamts13 |
C |
T |
2: 26,879,336 (GRCm39) |
R630C |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,708,808 (GRCm39) |
F1199I |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,048,115 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
G |
10: 90,516,648 (GRCm39) |
D881G |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,855,728 (GRCm39) |
S569R |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,953,786 (GRCm39) |
S171P |
possibly damaging |
Het |
| Arhgef11 |
G |
A |
3: 87,624,482 (GRCm39) |
|
probably null |
Het |
| Baz1a |
C |
A |
12: 54,945,550 (GRCm39) |
L1271F |
probably damaging |
Het |
| Bdnf |
A |
C |
2: 109,554,275 (GRCm39) |
K216N |
probably benign |
Het |
| Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
| Bnip5 |
A |
T |
17: 29,127,351 (GRCm39) |
D219E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,718,881 (GRCm39) |
I390F |
|
Het |
| Chd8 |
A |
G |
14: 52,470,312 (GRCm39) |
S433P |
probably benign |
Het |
| Clrn2 |
A |
G |
5: 45,621,251 (GRCm39) |
E215G |
possibly damaging |
Het |
| Col2a1 |
G |
A |
15: 97,878,032 (GRCm39) |
R1036* |
probably null |
Het |
| Copg1 |
T |
A |
6: 87,867,257 (GRCm39) |
V110D |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,692,605 (GRCm39) |
G744D |
probably damaging |
Het |
| Crygs |
G |
A |
16: 22,625,252 (GRCm39) |
P63L |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,345,860 (GRCm39) |
D224G |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,540,820 (GRCm39) |
E2518G |
probably benign |
Het |
| Efcab6 |
C |
A |
15: 83,873,152 (GRCm39) |
R197L |
probably benign |
Het |
| Efr3b |
T |
A |
12: 4,019,588 (GRCm39) |
Y723F |
probably benign |
Het |
| Enam |
A |
G |
5: 88,649,523 (GRCm39) |
N344S |
probably damaging |
Het |
| Erich4 |
A |
G |
7: 25,315,101 (GRCm39) |
I58T |
possibly damaging |
Het |
| Esrp1 |
A |
G |
4: 11,338,809 (GRCm39) |
V665A |
probably benign |
Het |
| Etf1 |
G |
A |
18: 35,039,103 (GRCm39) |
T388I |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,652,040 (GRCm39) |
T244A |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,185,844 (GRCm39) |
D1610G |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
| Frem1 |
G |
T |
4: 82,932,064 (GRCm39) |
F212L |
probably benign |
Het |
| Fuom |
T |
A |
7: 139,681,073 (GRCm39) |
D85V |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,919,993 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
C |
T |
6: 25,688,786 (GRCm39) |
A104T |
probably benign |
Het |
| Hsp90ab1 |
G |
C |
17: 45,879,974 (GRCm39) |
T514S |
probably benign |
Het |
| Ifnl2 |
A |
G |
7: 28,209,094 (GRCm39) |
F74L |
probably benign |
Het |
| Ipo11 |
G |
A |
13: 107,028,199 (GRCm39) |
R367* |
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,260,838 (GRCm39) |
D963G |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lrch3 |
T |
A |
16: 32,807,125 (GRCm39) |
L466* |
probably null |
Het |
| Lrfn5 |
A |
T |
12: 61,887,090 (GRCm39) |
T293S |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,660,199 (GRCm39) |
I955T |
probably damaging |
Het |
| Lrrc4b |
C |
T |
7: 44,111,439 (GRCm39) |
T437M |
probably damaging |
Het |
| Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
| Mapkap1 |
G |
T |
2: 34,325,166 (GRCm39) |
R94L |
probably damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,495,383 (GRCm39) |
L480Q |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,389,627 (GRCm39) |
I3504M |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,480,564 (GRCm39) |
C1169S |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,396,802 (GRCm39) |
S1455P |
|
Het |
| Niban1 |
A |
G |
1: 151,571,975 (GRCm39) |
T307A |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,818,724 (GRCm39) |
D406G |
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,381,913 (GRCm39) |
I69V |
probably benign |
Het |
| Nthl1 |
G |
A |
17: 24,857,598 (GRCm39) |
V266I |
probably benign |
Het |
| Or2ag16 |
T |
C |
7: 106,352,589 (GRCm39) |
E2G |
possibly damaging |
Het |
| Or5an6 |
G |
T |
19: 12,371,829 (GRCm39) |
L67F |
probably damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,951 (GRCm39) |
T271A |
probably benign |
Het |
| Or5g23 |
A |
C |
2: 85,438,832 (GRCm39) |
C141G |
possibly damaging |
Het |
| Or5p75-ps1 |
C |
A |
7: 108,107,291 (GRCm39) |
H9Q |
possibly damaging |
Het |
| Or8k25 |
A |
G |
2: 86,243,496 (GRCm39) |
V300A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,192 (GRCm39) |
V226A |
probably benign |
Het |
| Pcdhb1 |
A |
C |
18: 37,398,171 (GRCm39) |
S41R |
possibly damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,116,436 (GRCm39) |
F1529I |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,992,383 (GRCm39) |
|
probably benign |
Het |
| Qdpr |
T |
C |
5: 45,596,718 (GRCm39) |
M149V |
probably benign |
Het |
| R3hcc1 |
T |
A |
14: 69,943,329 (GRCm39) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,041,856 (GRCm39) |
Y392C |
|
Het |
| Slc8a3 |
A |
C |
12: 81,361,577 (GRCm39) |
V414G |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,103,003 (GRCm39) |
S54P |
probably benign |
Het |
| Sos1 |
C |
A |
17: 80,731,629 (GRCm39) |
V624F |
probably damaging |
Het |
| Spdef |
T |
C |
17: 27,936,262 (GRCm39) |
D227G |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
| Srsf12 |
A |
T |
4: 33,209,265 (GRCm39) |
R62W |
unknown |
Het |
| Stag3 |
T |
C |
5: 138,289,628 (GRCm39) |
L266P |
probably damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,391,862 (GRCm39) |
|
probably benign |
Het |
| Taf1a |
A |
G |
1: 183,190,095 (GRCm39) |
T66A |
|
Het |
| Tfg |
A |
T |
16: 56,532,972 (GRCm39) |
|
probably null |
Het |
| Trim34b |
A |
G |
7: 103,985,604 (GRCm39) |
N413S |
probably benign |
Het |
| Txndc15 |
T |
A |
13: 55,869,399 (GRCm39) |
M184K |
probably damaging |
Het |
| Umodl1 |
A |
C |
17: 31,201,306 (GRCm39) |
S412R |
probably damaging |
Het |
| Zbtb8b |
T |
A |
4: 129,326,683 (GRCm39) |
M161L |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,684,369 (GRCm39) |
V129E |
probably benign |
Het |
| Zfp790 |
T |
C |
7: 29,528,050 (GRCm39) |
I245T |
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 |
|
|
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 |
|
|
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'- CTGATTCTTGGCTTGGAAGTAC -3'
(R):5'- ATCGAGAACTCCGTCCACTC -3'
Sequencing Primer
(F):5'- GGCTTGGAAGTACATATCACCATG -3'
(R):5'- CTCTTTGATCGTCAATGGCATAAAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation