Incidental Mutation 'R5739:Col19a1'
| ID |
444654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col19a1
|
| Ensembl Gene |
ENSMUSG00000026141 |
| Gene Name |
collagen, type XIX, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
043351-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5739 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
24300971-24626553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24376996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 450
(G450S)
|
| 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: G450S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052606
Gene: ENSMUSG00000026141
AA Change: G450S
| 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: G450S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110899
Gene: ENSMUSG00000026141
AA Change: G450S
| 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
|
| Meta Mutation Damage Score |
0.7775 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (82/82) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,220,717 (GRCm39) |
S50T |
probably benign |
Het |
| A930011G23Rik |
A |
G |
5: 99,369,289 (GRCm39) |
L529P |
probably damaging |
Het |
| Acer2 |
A |
T |
4: 86,818,792 (GRCm39) |
N147Y |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,901 (GRCm39) |
E353G |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,632,737 (GRCm39) |
F60L |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,811,260 (GRCm39) |
D120V |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,258,728 (GRCm39) |
D265G |
possibly damaging |
Het |
| Aurkc |
A |
T |
7: 7,005,859 (GRCm39) |
Y249F |
probably benign |
Het |
| Bmal1 |
G |
A |
7: 112,884,238 (GRCm39) |
R92Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,389,528 (GRCm39) |
I274V |
probably benign |
Het |
| Camk2n2 |
C |
A |
16: 20,439,830 (GRCm39) |
G39C |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,880,710 (GRCm39) |
L419P |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,141,388 (GRCm39) |
M3117V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,357 (GRCm39) |
E280G |
probably benign |
Het |
| Cherp |
TGCTGGTGGTGGGG |
TG |
8: 73,221,659 (GRCm39) |
|
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,646 (GRCm39) |
V494A |
probably damaging |
Het |
| Crb2 |
T |
G |
2: 37,683,666 (GRCm39) |
V1056G |
probably damaging |
Het |
| Crtac1 |
A |
G |
19: 42,290,612 (GRCm39) |
F363S |
probably damaging |
Het |
| Dipk2a |
A |
T |
9: 94,402,594 (GRCm39) |
V356E |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,243,715 (GRCm39) |
S449G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,273,152 (GRCm39) |
I2427F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,937,981 (GRCm39) |
D1619E |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,850,995 (GRCm39) |
S836T |
possibly damaging |
Het |
| Donson |
A |
T |
16: 91,478,117 (GRCm39) |
|
probably null |
Het |
| Drc3 |
G |
A |
11: 60,265,956 (GRCm39) |
R215H |
possibly damaging |
Het |
| Entpd2 |
T |
C |
2: 25,289,504 (GRCm39) |
S329P |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,603,857 (GRCm39) |
S332P |
probably damaging |
Het |
| Fam83f |
T |
A |
15: 80,576,206 (GRCm39) |
Y286N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,283 (GRCm39) |
V3645A |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,419,287 (GRCm39) |
F668L |
possibly damaging |
Het |
| Gm14403 |
T |
A |
2: 177,201,040 (GRCm39) |
C329S |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,684,448 (GRCm39) |
T374I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,634,225 (GRCm39) |
|
probably null |
Het |
| Hrnr |
T |
C |
3: 93,230,436 (GRCm39) |
S225P |
unknown |
Het |
| Ifi202b |
C |
T |
1: 173,798,918 (GRCm39) |
|
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,368 (GRCm39) |
D394E |
possibly damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,735 (GRCm39) |
D275E |
probably benign |
Het |
| Jaml |
A |
T |
9: 45,000,026 (GRCm39) |
D108V |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,872 (GRCm39) |
V443A |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,473,637 (GRCm39) |
S126R |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,788,450 (GRCm39) |
I354T |
probably damaging |
Het |
| Nucb1 |
A |
T |
7: 45,151,084 (GRCm39) |
L99Q |
probably damaging |
Het |
| Or4f59 |
A |
G |
2: 111,873,128 (GRCm39) |
F83S |
probably damaging |
Het |
| Pask |
A |
G |
1: 93,249,778 (GRCm39) |
S541P |
probably benign |
Het |
| Pdpr |
A |
T |
8: 111,861,252 (GRCm39) |
I749F |
possibly damaging |
Het |
| Pgap6 |
T |
A |
17: 26,339,425 (GRCm39) |
F580I |
probably damaging |
Het |
| Phyhipl |
T |
C |
10: 70,395,399 (GRCm39) |
D269G |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,523,223 (GRCm39) |
D110G |
probably benign |
Het |
| Ppox |
A |
G |
1: 171,107,570 (GRCm39) |
L115P |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,281 (GRCm39) |
L94P |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,276 (GRCm39) |
M141K |
probably benign |
Het |
| Prl3d1 |
A |
T |
13: 27,283,995 (GRCm39) |
H188L |
probably benign |
Het |
| Psmb3 |
T |
A |
11: 97,604,296 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,333 (GRCm39) |
S150T |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,823,203 (GRCm39) |
T903A |
probably damaging |
Het |
| Rnase4 |
T |
C |
14: 51,342,306 (GRCm39) |
L10S |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,012 (GRCm39) |
T114A |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,269,619 (GRCm39) |
E1735V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,264,950 (GRCm39) |
Y60N |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,110,814 (GRCm39) |
V508E |
probably damaging |
Het |
| Rubcnl |
T |
C |
14: 75,278,381 (GRCm39) |
|
probably null |
Het |
| Rxfp4 |
A |
G |
3: 88,559,209 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
A |
G |
1: 176,653,797 (GRCm39) |
T85A |
probably benign |
Het |
| Slc46a1 |
A |
T |
11: 78,357,975 (GRCm39) |
I343F |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,340,639 (GRCm39) |
D597G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,044,239 (GRCm39) |
V3942E |
possibly damaging |
Het |
| Timd4 |
T |
C |
11: 46,708,573 (GRCm39) |
S200P |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,265,834 (GRCm39) |
|
probably null |
Het |
| Trbv16 |
A |
G |
6: 41,129,013 (GRCm39) |
T66A |
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,240,183 (GRCm39) |
K1103* |
probably null |
Het |
| Ttc7b |
A |
G |
12: 100,350,492 (GRCm39) |
V458A |
probably damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,134 (GRCm39) |
S181P |
probably benign |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,114 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
A |
T |
6: 124,002,925 (GRCm39) |
N112Y |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zc3h10 |
T |
C |
10: 128,380,670 (GRCm39) |
N229S |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,226,867 (GRCm39) |
*2247W |
probably null |
Het |
| Zfyve1 |
C |
A |
12: 83,621,910 (GRCm39) |
V162L |
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 |
|
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'- GGATGTTTCTCTTGACACATCC -3'
(R):5'- AAGGAAGTCTTGGAGCTGTG -3'
Sequencing Primer
(F):5'- TCAGTAGCGCCCCCAAG -3'
(R):5'- CAGACAGGATCTTCAACATTGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation