Incidental Mutation 'R1868:Col14a1'
ID |
209001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col14a1
|
Ensembl Gene |
ENSMUSG00000022371 |
Gene Name |
collagen, type XIV, alpha 1 |
Synonyms |
5730412L22Rik |
MMRRC Submission |
039890-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1868 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
55171146-55384199 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 55310858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023053]
[ENSMUST00000110217]
[ENSMUST00000110221]
|
AlphaFold |
Q80X19 |
Predicted Effect |
unknown
Transcript: ENSMUST00000023053
AA Change: D1194E
|
SMART Domains |
Protein: ENSMUSP00000023053 Gene: ENSMUSG00000022371 AA Change: D1194E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
FN3
|
30 |
108 |
5.4e-7 |
SMART |
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
VWA
|
157 |
336 |
9.5e-56 |
SMART |
FN3
|
354 |
434 |
3.82e-7 |
SMART |
FN3
|
444 |
522 |
3.1e-7 |
SMART |
FN3
|
536 |
613 |
5.07e-12 |
SMART |
FN3
|
625 |
704 |
3.1e-7 |
SMART |
FN3
|
736 |
818 |
6.2e-7 |
SMART |
FN3
|
830 |
909 |
1.45e-7 |
SMART |
FN3
|
920 |
999 |
3.59e0 |
SMART |
low complexity region
|
1010 |
1022 |
N/A |
INTRINSIC |
VWA
|
1031 |
1211 |
2.02e-59 |
SMART |
TSPN
|
1230 |
1425 |
1.19e-66 |
SMART |
Pfam:Collagen
|
1461 |
1515 |
2.9e-8 |
PFAM |
Pfam:Collagen
|
1513 |
1571 |
6.3e-9 |
PFAM |
Pfam:Collagen
|
1555 |
1615 |
8.5e-10 |
PFAM |
Pfam:Collagen
|
1653 |
1709 |
7.6e-10 |
PFAM |
Pfam:Collagen
|
1707 |
1762 |
2.6e-7 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000110217
AA Change: D1195E
|
SMART Domains |
Protein: ENSMUSP00000105846 Gene: ENSMUSG00000022371 AA Change: D1195E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
FN3
|
30 |
108 |
5.4e-7 |
SMART |
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
VWA
|
157 |
336 |
9.5e-56 |
SMART |
FN3
|
354 |
434 |
3.82e-7 |
SMART |
FN3
|
444 |
522 |
3.1e-7 |
SMART |
FN3
|
536 |
613 |
5.07e-12 |
SMART |
FN3
|
625 |
704 |
3.1e-7 |
SMART |
FN3
|
736 |
819 |
5.4e-7 |
SMART |
FN3
|
831 |
910 |
1.45e-7 |
SMART |
FN3
|
921 |
1000 |
3.59e0 |
SMART |
low complexity region
|
1011 |
1023 |
N/A |
INTRINSIC |
VWA
|
1032 |
1212 |
2.02e-59 |
SMART |
TSPN
|
1231 |
1426 |
1.19e-66 |
SMART |
Pfam:Collagen
|
1462 |
1516 |
2.5e-8 |
PFAM |
Pfam:Collagen
|
1514 |
1572 |
5.4e-9 |
PFAM |
Pfam:Collagen
|
1556 |
1616 |
7.3e-10 |
PFAM |
Pfam:Collagen
|
1654 |
1710 |
6.5e-10 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000110221
AA Change: D1191E
|
SMART Domains |
Protein: ENSMUSP00000105850 Gene: ENSMUSG00000022371 AA Change: D1191E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
FN3
|
30 |
108 |
5.4e-7 |
SMART |
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
VWA
|
157 |
336 |
9.5e-56 |
SMART |
FN3
|
354 |
434 |
3.82e-7 |
SMART |
FN3
|
444 |
522 |
3.1e-7 |
SMART |
FN3
|
536 |
613 |
5.07e-12 |
SMART |
FN3
|
625 |
704 |
3.1e-7 |
SMART |
FN3
|
736 |
815 |
7.12e-7 |
SMART |
FN3
|
827 |
906 |
1.45e-7 |
SMART |
FN3
|
917 |
996 |
3.59e0 |
SMART |
low complexity region
|
1007 |
1019 |
N/A |
INTRINSIC |
VWA
|
1028 |
1208 |
2.02e-59 |
SMART |
TSPN
|
1227 |
1422 |
1.19e-66 |
SMART |
Pfam:Collagen
|
1458 |
1512 |
8.2e-9 |
PFAM |
Pfam:Collagen
|
1510 |
1568 |
1.8e-9 |
PFAM |
Pfam:Collagen
|
1552 |
1612 |
2.4e-10 |
PFAM |
Pfam:Collagen
|
1650 |
1706 |
2.2e-10 |
PFAM |
Pfam:Collagen
|
1704 |
1759 |
7.5e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125416
|
SMART Domains |
Protein: ENSMUSP00000122455 Gene: ENSMUSG00000022371
Domain | Start | End | E-Value | Type |
TSPN
|
2 |
165 |
2.04e-42 |
SMART |
Pfam:Collagen
|
201 |
255 |
2.1e-9 |
PFAM |
Pfam:Collagen
|
253 |
305 |
3.3e-9 |
PFAM |
Pfam:Collagen
|
295 |
355 |
4.4e-11 |
PFAM |
Pfam:Collagen
|
393 |
448 |
5.7e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.1182 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
Validation Efficiency |
97% (115/118) |
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 XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013] PHENOTYPE: Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 115 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
A |
T |
5: 66,157,560 (GRCm39) |
M1K |
probably null |
Het |
A630073D07Rik |
C |
T |
6: 132,603,457 (GRCm39) |
E100K |
unknown |
Het |
Abcc3 |
T |
G |
11: 94,254,889 (GRCm39) |
D638A |
probably benign |
Het |
Acadm |
T |
C |
3: 153,635,889 (GRCm39) |
I272V |
probably benign |
Het |
Adam2 |
G |
A |
14: 66,315,107 (GRCm39) |
T22I |
probably damaging |
Het |
Aldh3b1 |
G |
A |
19: 3,971,271 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,537,135 (GRCm39) |
I182K |
probably benign |
Het |
Arhgef17 |
A |
G |
7: 100,528,184 (GRCm39) |
S677P |
probably benign |
Het |
Atp2b1 |
T |
C |
10: 98,832,750 (GRCm39) |
V417A |
probably damaging |
Het |
Brca1 |
T |
A |
11: 101,388,839 (GRCm39) |
H1675L |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,720,998 (GRCm39) |
S743T |
probably damaging |
Het |
Btd |
G |
T |
14: 31,389,266 (GRCm39) |
G329V |
probably benign |
Het |
Capsl |
T |
A |
15: 9,461,916 (GRCm39) |
L104* |
probably null |
Het |
Cbx1 |
T |
C |
11: 96,693,554 (GRCm39) |
S107P |
probably benign |
Het |
Cd207 |
G |
T |
6: 83,648,683 (GRCm39) |
Y326* |
probably null |
Het |
Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,309,560 (GRCm39) |
|
probably null |
Het |
Cntrl |
T |
A |
2: 35,019,827 (GRCm39) |
H551Q |
probably benign |
Het |
Cybrd1 |
T |
A |
2: 70,967,978 (GRCm39) |
F183Y |
possibly damaging |
Het |
D5Ertd579e |
G |
A |
5: 36,773,771 (GRCm39) |
S208L |
probably damaging |
Het |
Dlg2 |
A |
T |
7: 92,036,160 (GRCm39) |
K719* |
probably null |
Het |
Dppa1 |
A |
T |
11: 46,516,393 (GRCm39) |
|
probably null |
Het |
Dse |
A |
G |
10: 34,029,284 (GRCm39) |
V602A |
possibly damaging |
Het |
Elapor2 |
T |
A |
5: 9,529,251 (GRCm39) |
I1028K |
probably damaging |
Het |
Elmo1 |
C |
T |
13: 20,773,823 (GRCm39) |
A611V |
possibly damaging |
Het |
Ets2 |
T |
C |
16: 95,516,118 (GRCm39) |
S233P |
probably benign |
Het |
Fchsd2 |
G |
A |
7: 100,899,645 (GRCm39) |
|
probably benign |
Het |
Fhip2a |
T |
C |
19: 57,374,737 (GRCm39) |
I704T |
possibly damaging |
Het |
Fkbp4 |
T |
C |
6: 128,409,453 (GRCm39) |
R402G |
probably benign |
Het |
G2e3 |
T |
A |
12: 51,400,412 (GRCm39) |
D21E |
probably benign |
Het |
Gask1a |
A |
G |
9: 121,794,493 (GRCm39) |
T216A |
possibly damaging |
Het |
Gck |
A |
T |
11: 5,852,165 (GRCm39) |
N391K |
probably damaging |
Het |
Gm11077 |
T |
A |
6: 140,675,017 (GRCm39) |
I3N |
unknown |
Het |
Gm6793 |
T |
C |
8: 112,741,088 (GRCm39) |
M185V |
probably benign |
Het |
Gucy2d |
T |
A |
7: 98,103,268 (GRCm39) |
L504H |
probably damaging |
Het |
Hat1 |
T |
A |
2: 71,251,627 (GRCm39) |
Y225* |
probably null |
Het |
Iars2 |
A |
T |
1: 185,050,765 (GRCm39) |
D441E |
probably benign |
Het |
Ido2 |
C |
A |
8: 25,043,776 (GRCm39) |
M92I |
possibly damaging |
Het |
Ifne |
T |
C |
4: 88,797,908 (GRCm39) |
E170G |
probably damaging |
Het |
Ints8 |
C |
A |
4: 11,241,684 (GRCm39) |
C253F |
probably damaging |
Het |
Intu |
G |
T |
3: 40,618,765 (GRCm39) |
G257V |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,609,316 (GRCm39) |
K140R |
probably benign |
Het |
Kcnip3 |
T |
C |
2: 127,301,263 (GRCm39) |
E237G |
probably damaging |
Het |
Ksr2 |
A |
C |
5: 117,643,594 (GRCm39) |
E121A |
probably benign |
Het |
Lars1 |
T |
A |
18: 42,347,902 (GRCm39) |
I974F |
probably benign |
Het |
Lce1b |
A |
G |
3: 92,563,318 (GRCm39) |
S72P |
unknown |
Het |
Lhfpl4 |
T |
A |
6: 113,153,394 (GRCm39) |
D125V |
probably benign |
Het |
Luc7l |
G |
A |
17: 26,499,030 (GRCm39) |
|
probably benign |
Het |
Mei1 |
T |
C |
15: 82,009,154 (GRCm39) |
L833P |
probably damaging |
Het |
Mier2 |
A |
G |
10: 79,384,664 (GRCm39) |
V150A |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,576,715 (GRCm39) |
R2072C |
unknown |
Het |
Myh3 |
A |
G |
11: 66,975,852 (GRCm39) |
K295E |
probably benign |
Het |
Ndufaf5 |
A |
G |
2: 140,023,509 (GRCm39) |
I115V |
probably benign |
Het |
Neb |
T |
C |
2: 52,216,756 (GRCm39) |
K140E |
probably damaging |
Het |
Niban1 |
A |
G |
1: 151,517,302 (GRCm39) |
S104G |
possibly damaging |
Het |
Npas2 |
A |
G |
1: 39,339,759 (GRCm39) |
D103G |
probably benign |
Het |
Ntrk3 |
A |
T |
7: 77,842,352 (GRCm39) |
H825Q |
possibly damaging |
Het |
Nup62 |
T |
A |
7: 44,478,472 (GRCm39) |
S162R |
possibly damaging |
Het |
Or4c108 |
T |
C |
2: 88,804,128 (GRCm39) |
T36A |
possibly damaging |
Het |
Or5g23 |
T |
A |
2: 85,438,409 (GRCm39) |
I282F |
probably damaging |
Het |
Or5t7 |
G |
A |
2: 86,507,629 (GRCm39) |
T16I |
possibly damaging |
Het |
Or8c8 |
A |
G |
9: 38,164,986 (GRCm39) |
E91G |
probably damaging |
Het |
Orc4 |
A |
G |
2: 48,800,305 (GRCm39) |
M281T |
probably benign |
Het |
Osbpl5 |
C |
A |
7: 143,269,510 (GRCm39) |
R22L |
probably damaging |
Het |
Otos |
A |
G |
1: 92,572,185 (GRCm39) |
F47S |
probably damaging |
Het |
Parp11 |
A |
G |
6: 127,447,740 (GRCm39) |
T25A |
probably damaging |
Het |
Pcdhb9 |
A |
C |
18: 37,535,137 (GRCm39) |
D377A |
probably damaging |
Het |
Pdgfra |
C |
T |
5: 75,331,534 (GRCm39) |
S348L |
probably benign |
Het |
Pdlim5 |
C |
A |
3: 142,012,060 (GRCm39) |
|
probably null |
Het |
Peg12 |
T |
C |
7: 62,113,416 (GRCm39) |
H227R |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,152,415 (GRCm39) |
E2559G |
probably damaging |
Het |
Pnisr |
C |
T |
4: 21,874,086 (GRCm39) |
|
probably benign |
Het |
Ppa2 |
A |
T |
3: 133,053,858 (GRCm39) |
I183F |
probably damaging |
Het |
Pramel48 |
T |
A |
5: 95,630,758 (GRCm39) |
Y212N |
probably benign |
Het |
Prl2a1 |
T |
C |
13: 27,988,923 (GRCm39) |
L16P |
probably damaging |
Het |
Rai14 |
C |
A |
15: 10,633,314 (GRCm39) |
Q25H |
probably damaging |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rbm34 |
C |
A |
8: 127,697,631 (GRCm39) |
A27S |
probably benign |
Het |
Rchy1 |
T |
C |
5: 92,099,762 (GRCm39) |
D192G |
probably damaging |
Het |
Rexo1 |
T |
C |
10: 80,378,754 (GRCm39) |
D1094G |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,556,970 (GRCm39) |
D1623V |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,746,586 (GRCm39) |
E1989K |
probably benign |
Het |
Sema6c |
A |
G |
3: 95,078,124 (GRCm39) |
E500G |
probably damaging |
Het |
Slc13a1 |
T |
A |
6: 24,117,999 (GRCm39) |
Y246F |
probably damaging |
Het |
Slc39a9 |
C |
T |
12: 80,726,297 (GRCm39) |
L249F |
probably damaging |
Het |
Slc6a21 |
C |
T |
7: 44,937,252 (GRCm39) |
P261S |
probably benign |
Het |
Slco2b1 |
C |
T |
7: 99,335,243 (GRCm39) |
C179Y |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,258,773 (GRCm39) |
N252S |
possibly damaging |
Het |
Spr-ps1 |
C |
T |
6: 85,132,885 (GRCm39) |
|
noncoding transcript |
Het |
Sptbn1 |
C |
A |
11: 30,064,781 (GRCm39) |
R1906L |
possibly damaging |
Het |
Stac2 |
T |
C |
11: 97,943,771 (GRCm39) |
D13G |
probably benign |
Het |
Stat5a |
G |
T |
11: 100,764,955 (GRCm39) |
R226L |
probably damaging |
Het |
Suz12 |
A |
G |
11: 79,904,425 (GRCm39) |
|
probably null |
Het |
Tas2r144 |
C |
A |
6: 42,192,936 (GRCm39) |
H225Q |
probably benign |
Het |
Tdo2 |
T |
A |
3: 81,867,853 (GRCm39) |
M331L |
probably benign |
Het |
Tesk1 |
T |
C |
4: 43,447,201 (GRCm39) |
W530R |
probably damaging |
Het |
Tlr6 |
T |
C |
5: 65,112,172 (GRCm39) |
N245S |
probably benign |
Het |
Tnfrsf11a |
G |
T |
1: 105,772,431 (GRCm39) |
A573S |
probably damaging |
Het |
Tpbpb |
A |
T |
13: 61,050,344 (GRCm39) |
|
probably benign |
Het |
Trim24 |
T |
A |
6: 37,928,447 (GRCm39) |
S590T |
probably damaging |
Het |
Ttll3 |
G |
T |
6: 113,369,725 (GRCm39) |
A90S |
possibly damaging |
Het |
Ubr5 |
A |
T |
15: 38,042,090 (GRCm39) |
S169T |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,928,007 (GRCm39) |
V363A |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,838,990 (GRCm39) |
S2185P |
probably benign |
Het |
Vmn1r211 |
T |
C |
13: 23,035,779 (GRCm39) |
H296R |
probably benign |
Het |
Vmn2r3 |
G |
A |
3: 64,166,537 (GRCm39) |
P865S |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,414,415 (GRCm39) |
T426A |
probably benign |
Het |
Wdr37 |
G |
T |
13: 8,886,887 (GRCm39) |
T300K |
probably damaging |
Het |
Wrap53 |
A |
T |
11: 69,452,990 (GRCm39) |
V439E |
probably null |
Het |
Wrn |
A |
G |
8: 33,747,249 (GRCm39) |
S868P |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,477,774 (GRCm39) |
E3463G |
probably damaging |
Het |
Zfp189 |
T |
A |
4: 49,529,283 (GRCm39) |
C129S |
possibly damaging |
Het |
Zfp442 |
T |
C |
2: 150,250,100 (GRCm39) |
K544E |
probably damaging |
Het |
Zfp939 |
T |
A |
7: 39,122,728 (GRCm39) |
|
noncoding transcript |
Het |
Zfyve26 |
T |
C |
12: 79,308,573 (GRCm39) |
H228R |
possibly damaging |
Het |
|
Other mutations in Col14a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00663:Col14a1
|
APN |
15 |
55,274,981 (GRCm39) |
missense |
unknown |
|
IGL01290:Col14a1
|
APN |
15 |
55,286,903 (GRCm39) |
missense |
unknown |
|
IGL01300:Col14a1
|
APN |
15 |
55,331,372 (GRCm39) |
missense |
unknown |
|
IGL01505:Col14a1
|
APN |
15 |
55,318,619 (GRCm39) |
missense |
unknown |
|
IGL01533:Col14a1
|
APN |
15 |
55,284,236 (GRCm39) |
missense |
unknown |
|
IGL01563:Col14a1
|
APN |
15 |
55,351,337 (GRCm39) |
missense |
unknown |
|
IGL01650:Col14a1
|
APN |
15 |
55,270,089 (GRCm39) |
missense |
unknown |
|
IGL01659:Col14a1
|
APN |
15 |
55,309,568 (GRCm39) |
unclassified |
probably benign |
|
IGL01670:Col14a1
|
APN |
15 |
55,192,662 (GRCm39) |
missense |
unknown |
|
IGL01760:Col14a1
|
APN |
15 |
55,286,855 (GRCm39) |
missense |
unknown |
|
IGL01803:Col14a1
|
APN |
15 |
55,282,210 (GRCm39) |
missense |
unknown |
|
IGL01966:Col14a1
|
APN |
15 |
55,312,121 (GRCm39) |
unclassified |
probably benign |
|
IGL01990:Col14a1
|
APN |
15 |
55,226,859 (GRCm39) |
missense |
unknown |
|
IGL02124:Col14a1
|
APN |
15 |
55,327,099 (GRCm39) |
missense |
unknown |
|
IGL02138:Col14a1
|
APN |
15 |
55,284,231 (GRCm39) |
missense |
unknown |
|
IGL02192:Col14a1
|
APN |
15 |
55,225,798 (GRCm39) |
missense |
unknown |
|
IGL02326:Col14a1
|
APN |
15 |
55,282,193 (GRCm39) |
missense |
unknown |
|
IGL02335:Col14a1
|
APN |
15 |
55,327,165 (GRCm39) |
splice site |
probably benign |
|
IGL02407:Col14a1
|
APN |
15 |
55,312,272 (GRCm39) |
splice site |
probably benign |
|
IGL02486:Col14a1
|
APN |
15 |
55,252,092 (GRCm39) |
splice site |
probably benign |
|
IGL02537:Col14a1
|
APN |
15 |
55,208,310 (GRCm39) |
nonsense |
probably null |
|
IGL02567:Col14a1
|
APN |
15 |
55,208,357 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02643:Col14a1
|
APN |
15 |
55,284,258 (GRCm39) |
missense |
unknown |
|
IGL02669:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
IGL02673:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
IGL02674:Col14a1
|
APN |
15 |
55,282,178 (GRCm39) |
missense |
unknown |
|
IGL03201:Col14a1
|
APN |
15 |
55,272,300 (GRCm39) |
missense |
unknown |
|
IGL03334:Col14a1
|
APN |
15 |
55,312,217 (GRCm39) |
unclassified |
probably benign |
|
IGL03370:Col14a1
|
APN |
15 |
55,351,937 (GRCm39) |
splice site |
probably null |
|
IGL03385:Col14a1
|
APN |
15 |
55,273,600 (GRCm39) |
missense |
unknown |
|
IGL03385:Col14a1
|
APN |
15 |
55,335,104 (GRCm39) |
missense |
unknown |
|
PIT4131001:Col14a1
|
UTSW |
15 |
55,312,272 (GRCm39) |
splice site |
probably benign |
|
R0046:Col14a1
|
UTSW |
15 |
55,272,359 (GRCm39) |
splice site |
probably benign |
|
R0046:Col14a1
|
UTSW |
15 |
55,272,359 (GRCm39) |
splice site |
probably benign |
|
R0173:Col14a1
|
UTSW |
15 |
55,351,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Col14a1
|
UTSW |
15 |
55,360,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Col14a1
|
UTSW |
15 |
55,360,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R0359:Col14a1
|
UTSW |
15 |
55,271,264 (GRCm39) |
splice site |
probably benign |
|
R0391:Col14a1
|
UTSW |
15 |
55,309,655 (GRCm39) |
unclassified |
probably benign |
|
R0468:Col14a1
|
UTSW |
15 |
55,252,042 (GRCm39) |
missense |
unknown |
|
R0652:Col14a1
|
UTSW |
15 |
55,208,278 (GRCm39) |
missense |
unknown |
|
R0692:Col14a1
|
UTSW |
15 |
55,205,134 (GRCm39) |
missense |
unknown |
|
R0745:Col14a1
|
UTSW |
15 |
55,201,813 (GRCm39) |
missense |
unknown |
|
R1006:Col14a1
|
UTSW |
15 |
55,383,331 (GRCm39) |
missense |
probably benign |
0.04 |
R1331:Col14a1
|
UTSW |
15 |
55,273,584 (GRCm39) |
missense |
unknown |
|
R1537:Col14a1
|
UTSW |
15 |
55,244,163 (GRCm39) |
missense |
unknown |
|
R1557:Col14a1
|
UTSW |
15 |
55,251,975 (GRCm39) |
missense |
unknown |
|
R1721:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
R1737:Col14a1
|
UTSW |
15 |
55,208,357 (GRCm39) |
critical splice donor site |
probably benign |
|
R1837:Col14a1
|
UTSW |
15 |
55,245,891 (GRCm39) |
missense |
unknown |
|
R1867:Col14a1
|
UTSW |
15 |
55,310,858 (GRCm39) |
unclassified |
probably benign |
|
R1991:Col14a1
|
UTSW |
15 |
55,313,336 (GRCm39) |
missense |
unknown |
|
R2020:Col14a1
|
UTSW |
15 |
55,309,577 (GRCm39) |
unclassified |
probably benign |
|
R2103:Col14a1
|
UTSW |
15 |
55,313,336 (GRCm39) |
missense |
unknown |
|
R2116:Col14a1
|
UTSW |
15 |
55,271,160 (GRCm39) |
missense |
unknown |
|
R2163:Col14a1
|
UTSW |
15 |
55,308,041 (GRCm39) |
unclassified |
probably benign |
|
R2207:Col14a1
|
UTSW |
15 |
55,327,082 (GRCm39) |
missense |
unknown |
|
R2215:Col14a1
|
UTSW |
15 |
55,244,238 (GRCm39) |
missense |
unknown |
|
R2264:Col14a1
|
UTSW |
15 |
55,330,086 (GRCm39) |
splice site |
probably null |
|
R2383:Col14a1
|
UTSW |
15 |
55,310,913 (GRCm39) |
unclassified |
probably benign |
|
R2397:Col14a1
|
UTSW |
15 |
55,201,835 (GRCm39) |
missense |
unknown |
|
R2422:Col14a1
|
UTSW |
15 |
55,313,318 (GRCm39) |
missense |
unknown |
|
R3793:Col14a1
|
UTSW |
15 |
55,226,909 (GRCm39) |
missense |
unknown |
|
R4082:Col14a1
|
UTSW |
15 |
55,300,429 (GRCm39) |
missense |
unknown |
|
R4112:Col14a1
|
UTSW |
15 |
55,226,955 (GRCm39) |
missense |
unknown |
|
R4519:Col14a1
|
UTSW |
15 |
55,251,975 (GRCm39) |
missense |
unknown |
|
R4628:Col14a1
|
UTSW |
15 |
55,313,229 (GRCm39) |
nonsense |
probably null |
|
R4692:Col14a1
|
UTSW |
15 |
55,286,864 (GRCm39) |
missense |
unknown |
|
R4696:Col14a1
|
UTSW |
15 |
55,235,998 (GRCm39) |
missense |
unknown |
|
R4749:Col14a1
|
UTSW |
15 |
55,315,732 (GRCm39) |
missense |
unknown |
|
R5324:Col14a1
|
UTSW |
15 |
55,201,841 (GRCm39) |
missense |
unknown |
|
R5382:Col14a1
|
UTSW |
15 |
55,225,832 (GRCm39) |
missense |
unknown |
|
R5634:Col14a1
|
UTSW |
15 |
55,381,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R5781:Col14a1
|
UTSW |
15 |
55,286,908 (GRCm39) |
missense |
unknown |
|
R5828:Col14a1
|
UTSW |
15 |
55,300,372 (GRCm39) |
missense |
unknown |
|
R5873:Col14a1
|
UTSW |
15 |
55,309,182 (GRCm39) |
unclassified |
probably benign |
|
R5966:Col14a1
|
UTSW |
15 |
55,315,779 (GRCm39) |
critical splice donor site |
probably null |
|
R6106:Col14a1
|
UTSW |
15 |
55,383,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R6135:Col14a1
|
UTSW |
15 |
55,244,246 (GRCm39) |
missense |
unknown |
|
R6319:Col14a1
|
UTSW |
15 |
55,379,565 (GRCm39) |
missense |
probably damaging |
0.99 |
R6475:Col14a1
|
UTSW |
15 |
55,309,218 (GRCm39) |
unclassified |
probably benign |
|
R6540:Col14a1
|
UTSW |
15 |
55,235,977 (GRCm39) |
missense |
unknown |
|
R6893:Col14a1
|
UTSW |
15 |
55,308,044 (GRCm39) |
unclassified |
probably benign |
|
R6992:Col14a1
|
UTSW |
15 |
55,274,958 (GRCm39) |
splice site |
probably null |
|
R7284:Col14a1
|
UTSW |
15 |
55,381,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R7404:Col14a1
|
UTSW |
15 |
55,252,024 (GRCm39) |
nonsense |
probably null |
|
R7655:Col14a1
|
UTSW |
15 |
55,225,846 (GRCm39) |
missense |
unknown |
|
R7656:Col14a1
|
UTSW |
15 |
55,225,846 (GRCm39) |
missense |
unknown |
|
R7715:Col14a1
|
UTSW |
15 |
55,351,379 (GRCm39) |
missense |
unknown |
|
R7841:Col14a1
|
UTSW |
15 |
55,245,876 (GRCm39) |
missense |
unknown |
|
R7861:Col14a1
|
UTSW |
15 |
55,308,012 (GRCm39) |
missense |
unknown |
|
R7866:Col14a1
|
UTSW |
15 |
55,252,016 (GRCm39) |
missense |
unknown |
|
R7902:Col14a1
|
UTSW |
15 |
55,364,832 (GRCm39) |
missense |
probably benign |
0.16 |
R8041:Col14a1
|
UTSW |
15 |
55,318,626 (GRCm39) |
missense |
unknown |
|
R8159:Col14a1
|
UTSW |
15 |
55,291,324 (GRCm39) |
missense |
unknown |
|
R8224:Col14a1
|
UTSW |
15 |
55,271,137 (GRCm39) |
missense |
unknown |
|
R8282:Col14a1
|
UTSW |
15 |
55,284,276 (GRCm39) |
missense |
unknown |
|
R8729:Col14a1
|
UTSW |
15 |
55,310,893 (GRCm39) |
nonsense |
probably null |
|
R8737:Col14a1
|
UTSW |
15 |
55,318,706 (GRCm39) |
nonsense |
probably null |
|
R8871:Col14a1
|
UTSW |
15 |
55,245,958 (GRCm39) |
missense |
unknown |
|
R9069:Col14a1
|
UTSW |
15 |
55,251,990 (GRCm39) |
missense |
unknown |
|
R9081:Col14a1
|
UTSW |
15 |
55,291,387 (GRCm39) |
missense |
unknown |
|
R9088:Col14a1
|
UTSW |
15 |
55,226,923 (GRCm39) |
missense |
unknown |
|
R9113:Col14a1
|
UTSW |
15 |
55,201,825 (GRCm39) |
missense |
unknown |
|
R9193:Col14a1
|
UTSW |
15 |
55,242,964 (GRCm39) |
missense |
unknown |
|
R9274:Col14a1
|
UTSW |
15 |
55,381,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R9288:Col14a1
|
UTSW |
15 |
55,286,918 (GRCm39) |
missense |
unknown |
|
R9320:Col14a1
|
UTSW |
15 |
55,364,780 (GRCm39) |
missense |
probably benign |
0.16 |
R9602:Col14a1
|
UTSW |
15 |
55,351,345 (GRCm39) |
missense |
unknown |
|
R9620:Col14a1
|
UTSW |
15 |
55,225,781 (GRCm39) |
missense |
unknown |
|
R9629:Col14a1
|
UTSW |
15 |
55,382,545 (GRCm39) |
missense |
|
|
X0023:Col14a1
|
UTSW |
15 |
55,286,843 (GRCm39) |
missense |
unknown |
|
X0063:Col14a1
|
UTSW |
15 |
55,273,611 (GRCm39) |
missense |
unknown |
|
Z1177:Col14a1
|
UTSW |
15 |
55,235,966 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGCTACACCTACTGGGCTTC -3'
(R):5'- CCAGTGCTGAGTCTAGAGTTC -3'
Sequencing Primer
(F):5'- ACGAGCACATTTCAGTCATTTGGG -3'
(R):5'- AGAGTTCTTCCTCAGCTCTAGATGG -3'
|
Posted On |
2014-06-30 |