Incidental Mutation 'R6245:Col22a1'
ID |
505552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col22a1
|
Ensembl Gene |
ENSMUSG00000079022 |
Gene Name |
collagen, type XXII, alpha 1 |
Synonyms |
C80743, 2310067L16Rik |
MMRRC Submission |
044403-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6245 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71795795-72034227 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 71973816 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 366
(D366Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159993]
|
AlphaFold |
E9Q7P1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159993
AA Change: D366Y
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125069 Gene: ENSMUSG00000079022 AA Change: D366Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
VWA
|
45 |
227 |
1.35e-51 |
SMART |
TSPN
|
248 |
436 |
1.26e-33 |
SMART |
low complexity region
|
454 |
470 |
N/A |
INTRINSIC |
internal_repeat_3
|
494 |
555 |
1.96e-13 |
PROSPERO |
internal_repeat_1
|
496 |
643 |
1.49e-19 |
PROSPERO |
low complexity region
|
644 |
657 |
N/A |
INTRINSIC |
low complexity region
|
673 |
707 |
N/A |
INTRINSIC |
Pfam:Collagen
|
751 |
823 |
1.5e-9 |
PFAM |
Pfam:Collagen
|
810 |
863 |
2.3e-10 |
PFAM |
Pfam:Collagen
|
869 |
931 |
4.8e-11 |
PFAM |
Pfam:Collagen
|
926 |
990 |
1.1e-10 |
PFAM |
Pfam:Collagen
|
1031 |
1087 |
1.7e-10 |
PFAM |
Pfam:Collagen
|
1104 |
1162 |
1.8e-11 |
PFAM |
low complexity region
|
1173 |
1227 |
N/A |
INTRINSIC |
low complexity region
|
1236 |
1251 |
N/A |
INTRINSIC |
internal_repeat_2
|
1257 |
1348 |
3.25e-18 |
PROSPERO |
internal_repeat_4
|
1268 |
1347 |
9.67e-7 |
PROSPERO |
Pfam:Collagen
|
1389 |
1448 |
4e-10 |
PFAM |
Pfam:Collagen
|
1481 |
1540 |
2.6e-9 |
PFAM |
low complexity region
|
1546 |
1558 |
N/A |
INTRINSIC |
low complexity region
|
1580 |
1590 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410089E03Rik |
T |
C |
15: 8,178,418 (GRCm38) |
Y218H |
probably benign |
Het |
Abca9 |
A |
G |
11: 110,135,423 (GRCm38) |
I937T |
probably damaging |
Het |
Adgrl3 |
T |
A |
5: 81,688,556 (GRCm38) |
N720K |
probably benign |
Het |
Akr1c21 |
T |
G |
13: 4,575,232 (GRCm38) |
V54G |
possibly damaging |
Het |
Alpi |
G |
T |
1: 87,100,834 (GRCm38) |
D111E |
probably damaging |
Het |
Armc3 |
C |
T |
2: 19,248,705 (GRCm38) |
T219M |
probably damaging |
Het |
Bms1 |
T |
A |
6: 118,396,836 (GRCm38) |
E780V |
probably damaging |
Het |
Ccdc159 |
T |
C |
9: 21,935,568 (GRCm38) |
S244P |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,476,939 (GRCm38) |
W737R |
probably damaging |
Het |
Chdh |
T |
A |
14: 30,035,305 (GRCm38) |
V395D |
probably damaging |
Het |
Crnkl1 |
T |
A |
2: 145,928,131 (GRCm38) |
N264I |
probably benign |
Het |
Ctnnd2 |
T |
C |
15: 30,905,748 (GRCm38) |
L847P |
probably damaging |
Het |
Cyp4a31 |
A |
C |
4: 115,571,348 (GRCm38) |
T382P |
possibly damaging |
Het |
Dcaf8 |
A |
T |
1: 172,165,867 (GRCm38) |
M1L |
probably benign |
Het |
Ddx31 |
T |
A |
2: 28,844,982 (GRCm38) |
F52I |
probably benign |
Het |
Eps15 |
G |
A |
4: 109,382,866 (GRCm38) |
S852N |
possibly damaging |
Het |
Fchsd1 |
A |
T |
18: 37,962,775 (GRCm38) |
L552Q |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,932,331 (GRCm38) |
R143C |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,655,824 (GRCm38) |
M421V |
probably benign |
Het |
Gm1110 |
T |
G |
9: 26,920,747 (GRCm38) |
H36P |
probably benign |
Het |
Gm11639 |
A |
T |
11: 104,785,008 (GRCm38) |
Y1542F |
probably benign |
Het |
Hadha |
C |
T |
5: 30,120,044 (GRCm38) |
|
probably null |
Het |
Hspa4 |
C |
T |
11: 53,262,939 (GRCm38) |
E702K |
probably benign |
Het |
Intu |
C |
A |
3: 40,675,326 (GRCm38) |
T362K |
probably damaging |
Het |
Jaml |
C |
T |
9: 45,097,919 (GRCm38) |
T248I |
probably damaging |
Het |
Kcnj1 |
A |
T |
9: 32,396,867 (GRCm38) |
S176C |
probably damaging |
Het |
Kcnj9 |
A |
G |
1: 172,326,137 (GRCm38) |
L140P |
probably damaging |
Het |
Kif7 |
T |
C |
7: 79,702,143 (GRCm38) |
K957R |
probably damaging |
Het |
Klc4 |
T |
A |
17: 46,636,679 (GRCm38) |
I366F |
probably damaging |
Het |
Lamb2 |
A |
G |
9: 108,488,199 (GRCm38) |
|
probably null |
Het |
Madd |
T |
C |
2: 91,178,104 (GRCm38) |
D151G |
probably benign |
Het |
Man2a1 |
C |
A |
17: 64,710,826 (GRCm38) |
A689E |
probably damaging |
Het |
Mapk8ip1 |
C |
A |
2: 92,389,244 (GRCm38) |
G81C |
probably damaging |
Het |
Msmp |
T |
C |
4: 43,583,909 (GRCm38) |
Y48C |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,648,821 (GRCm38) |
N567S |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,379,875 (GRCm38) |
A192T |
possibly damaging |
Het |
Nrap |
A |
G |
19: 56,354,221 (GRCm38) |
Y748H |
probably damaging |
Het |
Olfr1138 |
G |
C |
2: 87,737,896 (GRCm38) |
Q143E |
possibly damaging |
Het |
Olfr1370 |
T |
A |
13: 21,072,690 (GRCm38) |
T204S |
possibly damaging |
Het |
Olfr1384 |
T |
A |
11: 49,514,165 (GRCm38) |
F176I |
possibly damaging |
Het |
Pcdhb8 |
T |
G |
18: 37,357,169 (GRCm38) |
D633E |
possibly damaging |
Het |
Pcdhb9 |
G |
A |
18: 37,403,154 (GRCm38) |
V734M |
probably damaging |
Het |
Plscr1 |
T |
C |
9: 92,259,321 (GRCm38) |
Y21H |
unknown |
Het |
Ptk2b |
G |
T |
14: 66,163,066 (GRCm38) |
P767T |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 23,051,990 (GRCm38) |
Y1424H |
probably damaging |
Het |
Sec31a |
T |
A |
5: 100,386,184 (GRCm38) |
Q118L |
probably benign |
Het |
Selenop |
A |
G |
15: 3,274,734 (GRCm38) |
S21G |
probably damaging |
Het |
Shank1 |
G |
A |
7: 44,352,253 (GRCm38) |
S1132N |
unknown |
Het |
Slf1 |
A |
G |
13: 77,084,383 (GRCm38) |
L534P |
probably damaging |
Het |
Sparcl1 |
T |
A |
5: 104,085,147 (GRCm38) |
H596L |
probably damaging |
Het |
Spocd1 |
C |
T |
4: 129,957,108 (GRCm38) |
|
probably null |
Het |
Tbc1d24 |
A |
T |
17: 24,185,993 (GRCm38) |
I59N |
probably damaging |
Het |
Tctex1d1 |
A |
G |
4: 102,988,667 (GRCm38) |
N32S |
probably benign |
Het |
Tjp3 |
G |
A |
10: 81,277,276 (GRCm38) |
T580I |
probably benign |
Het |
Tmem154 |
C |
T |
3: 84,684,296 (GRCm38) |
T51M |
possibly damaging |
Het |
Tmem8b |
G |
A |
4: 43,690,246 (GRCm38) |
V894I |
probably benign |
Het |
Trbv20 |
A |
T |
6: 41,188,906 (GRCm38) |
L88F |
possibly damaging |
Het |
Tssk2 |
A |
C |
16: 17,898,948 (GRCm38) |
I72L |
possibly damaging |
Het |
Tub |
T |
A |
7: 109,027,058 (GRCm38) |
I267N |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,041,567 (GRCm38) |
F434I |
possibly damaging |
Het |
Vmn2r42 |
T |
C |
7: 8,192,734 (GRCm38) |
N471S |
probably damaging |
Het |
Vmn2r94 |
C |
G |
17: 18,258,123 (GRCm38) |
G121R |
probably damaging |
Het |
Wdr72 |
T |
C |
9: 74,148,223 (GRCm38) |
S245P |
probably damaging |
Het |
Zbtb42 |
A |
G |
12: 112,679,535 (GRCm38) |
Y48C |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,304,433 (GRCm38) |
V657A |
possibly damaging |
Het |
Zfp768 |
A |
T |
7: 127,344,091 (GRCm38) |
C288* |
probably null |
Het |
Zfp988 |
T |
A |
4: 147,332,013 (GRCm38) |
C301* |
probably null |
Het |
|
Other mutations in Col22a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Col22a1
|
APN |
15 |
71,860,958 (GRCm38) |
critical splice donor site |
probably null |
|
IGL00434:Col22a1
|
APN |
15 |
72,006,675 (GRCm38) |
missense |
possibly damaging |
0.71 |
IGL00721:Col22a1
|
APN |
15 |
71,846,177 (GRCm38) |
missense |
unknown |
|
IGL00902:Col22a1
|
APN |
15 |
71,964,659 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01311:Col22a1
|
APN |
15 |
71,973,637 (GRCm38) |
splice site |
probably benign |
|
IGL01329:Col22a1
|
APN |
15 |
71,907,040 (GRCm38) |
missense |
probably benign |
0.02 |
IGL01527:Col22a1
|
APN |
15 |
71,907,031 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL01870:Col22a1
|
APN |
15 |
71,952,528 (GRCm38) |
missense |
probably benign |
0.07 |
IGL02002:Col22a1
|
APN |
15 |
71,811,097 (GRCm38) |
splice site |
probably benign |
|
IGL02248:Col22a1
|
APN |
15 |
71,799,448 (GRCm38) |
missense |
unknown |
|
IGL02322:Col22a1
|
APN |
15 |
71,822,653 (GRCm38) |
missense |
unknown |
|
IGL02472:Col22a1
|
APN |
15 |
71,827,753 (GRCm38) |
splice site |
probably benign |
|
IGL02685:Col22a1
|
APN |
15 |
71,801,915 (GRCm38) |
missense |
unknown |
|
IGL02888:Col22a1
|
APN |
15 |
71,846,219 (GRCm38) |
missense |
unknown |
|
IGL02971:Col22a1
|
APN |
15 |
72,006,738 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03175:Col22a1
|
APN |
15 |
71,969,103 (GRCm38) |
missense |
possibly damaging |
0.81 |
IGL03240:Col22a1
|
APN |
15 |
71,807,928 (GRCm38) |
missense |
unknown |
|
R0083:Col22a1
|
UTSW |
15 |
71,890,497 (GRCm38) |
missense |
possibly damaging |
0.70 |
R0383:Col22a1
|
UTSW |
15 |
71,869,004 (GRCm38) |
missense |
unknown |
|
R0449:Col22a1
|
UTSW |
15 |
71,962,671 (GRCm38) |
critical splice donor site |
probably null |
|
R0508:Col22a1
|
UTSW |
15 |
71,933,413 (GRCm38) |
missense |
unknown |
|
R0944:Col22a1
|
UTSW |
15 |
71,881,662 (GRCm38) |
missense |
probably benign |
0.03 |
R1289:Col22a1
|
UTSW |
15 |
71,837,377 (GRCm38) |
missense |
unknown |
|
R1436:Col22a1
|
UTSW |
15 |
71,922,957 (GRCm38) |
splice site |
probably benign |
|
R1439:Col22a1
|
UTSW |
15 |
71,952,377 (GRCm38) |
splice site |
probably benign |
|
R1460:Col22a1
|
UTSW |
15 |
71,821,931 (GRCm38) |
missense |
unknown |
|
R1680:Col22a1
|
UTSW |
15 |
71,799,361 (GRCm38) |
missense |
unknown |
|
R1715:Col22a1
|
UTSW |
15 |
72,006,981 (GRCm38) |
missense |
possibly damaging |
0.79 |
R1742:Col22a1
|
UTSW |
15 |
71,801,913 (GRCm38) |
missense |
unknown |
|
R1745:Col22a1
|
UTSW |
15 |
72,006,787 (GRCm38) |
missense |
probably damaging |
1.00 |
R1763:Col22a1
|
UTSW |
15 |
72,007,176 (GRCm38) |
missense |
probably damaging |
0.96 |
R1932:Col22a1
|
UTSW |
15 |
71,870,140 (GRCm38) |
missense |
unknown |
|
R2125:Col22a1
|
UTSW |
15 |
71,848,577 (GRCm38) |
missense |
unknown |
|
R2126:Col22a1
|
UTSW |
15 |
71,857,253 (GRCm38) |
nonsense |
probably null |
|
R2137:Col22a1
|
UTSW |
15 |
72,006,948 (GRCm38) |
missense |
possibly damaging |
0.46 |
R2860:Col22a1
|
UTSW |
15 |
71,815,943 (GRCm38) |
critical splice donor site |
probably null |
|
R2861:Col22a1
|
UTSW |
15 |
71,815,943 (GRCm38) |
critical splice donor site |
probably null |
|
R2862:Col22a1
|
UTSW |
15 |
71,815,943 (GRCm38) |
critical splice donor site |
probably null |
|
R3704:Col22a1
|
UTSW |
15 |
71,970,307 (GRCm38) |
missense |
probably damaging |
1.00 |
R3778:Col22a1
|
UTSW |
15 |
71,973,692 (GRCm38) |
missense |
probably damaging |
1.00 |
R3940:Col22a1
|
UTSW |
15 |
71,981,933 (GRCm38) |
nonsense |
probably null |
|
R3950:Col22a1
|
UTSW |
15 |
71,977,358 (GRCm38) |
missense |
possibly damaging |
0.90 |
R4240:Col22a1
|
UTSW |
15 |
72,007,131 (GRCm38) |
missense |
probably damaging |
1.00 |
R4531:Col22a1
|
UTSW |
15 |
72,007,149 (GRCm38) |
missense |
probably damaging |
1.00 |
R4597:Col22a1
|
UTSW |
15 |
71,964,662 (GRCm38) |
missense |
possibly damaging |
0.83 |
R4604:Col22a1
|
UTSW |
15 |
71,952,339 (GRCm38) |
missense |
probably benign |
0.36 |
R4654:Col22a1
|
UTSW |
15 |
71,973,695 (GRCm38) |
missense |
possibly damaging |
0.95 |
R4782:Col22a1
|
UTSW |
15 |
71,801,925 (GRCm38) |
missense |
unknown |
|
R4847:Col22a1
|
UTSW |
15 |
71,799,499 (GRCm38) |
missense |
unknown |
|
R4980:Col22a1
|
UTSW |
15 |
71,801,943 (GRCm38) |
missense |
unknown |
|
R4981:Col22a1
|
UTSW |
15 |
71,861,066 (GRCm38) |
missense |
unknown |
|
R4996:Col22a1
|
UTSW |
15 |
72,007,161 (GRCm38) |
missense |
probably damaging |
0.99 |
R5007:Col22a1
|
UTSW |
15 |
71,944,422 (GRCm38) |
missense |
probably damaging |
1.00 |
R5135:Col22a1
|
UTSW |
15 |
71,799,337 (GRCm38) |
missense |
unknown |
|
R5197:Col22a1
|
UTSW |
15 |
72,009,406 (GRCm38) |
missense |
probably damaging |
0.96 |
R5292:Col22a1
|
UTSW |
15 |
71,970,336 (GRCm38) |
missense |
probably damaging |
1.00 |
R5449:Col22a1
|
UTSW |
15 |
71,821,949 (GRCm38) |
missense |
unknown |
|
R5480:Col22a1
|
UTSW |
15 |
71,964,611 (GRCm38) |
missense |
probably damaging |
0.98 |
R5627:Col22a1
|
UTSW |
15 |
71,981,918 (GRCm38) |
missense |
probably damaging |
0.98 |
R5828:Col22a1
|
UTSW |
15 |
72,009,491 (GRCm38) |
missense |
probably benign |
0.01 |
R5927:Col22a1
|
UTSW |
15 |
72,006,966 (GRCm38) |
missense |
probably damaging |
1.00 |
R6006:Col22a1
|
UTSW |
15 |
71,973,836 (GRCm38) |
missense |
probably damaging |
1.00 |
R6288:Col22a1
|
UTSW |
15 |
71,894,869 (GRCm38) |
critical splice acceptor site |
probably null |
|
R6482:Col22a1
|
UTSW |
15 |
71,890,489 (GRCm38) |
missense |
possibly damaging |
0.93 |
R6497:Col22a1
|
UTSW |
15 |
71,890,576 (GRCm38) |
missense |
possibly damaging |
0.85 |
R6579:Col22a1
|
UTSW |
15 |
71,881,653 (GRCm38) |
missense |
probably benign |
0.18 |
R6643:Col22a1
|
UTSW |
15 |
71,822,037 (GRCm38) |
splice site |
probably null |
|
R6663:Col22a1
|
UTSW |
15 |
71,820,059 (GRCm38) |
missense |
unknown |
|
R7179:Col22a1
|
UTSW |
15 |
71,933,413 (GRCm38) |
missense |
unknown |
|
R7215:Col22a1
|
UTSW |
15 |
71,970,332 (GRCm38) |
nonsense |
probably null |
|
R7216:Col22a1
|
UTSW |
15 |
71,973,845 (GRCm38) |
missense |
probably damaging |
1.00 |
R7505:Col22a1
|
UTSW |
15 |
71,799,399 (GRCm38) |
nonsense |
probably null |
|
R7585:Col22a1
|
UTSW |
15 |
71,892,205 (GRCm38) |
missense |
probably damaging |
0.99 |
R7699:Col22a1
|
UTSW |
15 |
71,973,851 (GRCm38) |
missense |
probably damaging |
1.00 |
R7788:Col22a1
|
UTSW |
15 |
71,952,317 (GRCm38) |
critical splice donor site |
probably null |
|
R7921:Col22a1
|
UTSW |
15 |
71,981,962 (GRCm38) |
splice site |
probably null |
|
R8205:Col22a1
|
UTSW |
15 |
71,861,069 (GRCm38) |
missense |
unknown |
|
R8769:Col22a1
|
UTSW |
15 |
72,006,722 (GRCm38) |
missense |
probably benign |
0.21 |
R8780:Col22a1
|
UTSW |
15 |
72,006,947 (GRCm38) |
missense |
probably damaging |
0.99 |
R8827:Col22a1
|
UTSW |
15 |
71,902,816 (GRCm38) |
critical splice donor site |
probably null |
|
R8843:Col22a1
|
UTSW |
15 |
72,006,654 (GRCm38) |
missense |
probably damaging |
1.00 |
R8982:Col22a1
|
UTSW |
15 |
71,973,638 (GRCm38) |
critical splice donor site |
probably null |
|
R9031:Col22a1
|
UTSW |
15 |
71,881,674 (GRCm38) |
nonsense |
probably null |
|
R9036:Col22a1
|
UTSW |
15 |
71,890,582 (GRCm38) |
missense |
probably damaging |
1.00 |
R9084:Col22a1
|
UTSW |
15 |
71,820,080 (GRCm38) |
missense |
unknown |
|
R9281:Col22a1
|
UTSW |
15 |
71,861,071 (GRCm38) |
missense |
unknown |
|
R9386:Col22a1
|
UTSW |
15 |
71,981,945 (GRCm38) |
missense |
probably damaging |
1.00 |
R9406:Col22a1
|
UTSW |
15 |
71,973,692 (GRCm38) |
missense |
probably damaging |
1.00 |
R9577:Col22a1
|
UTSW |
15 |
71,965,746 (GRCm38) |
missense |
probably damaging |
0.99 |
R9727:Col22a1
|
UTSW |
15 |
71,977,274 (GRCm38) |
missense |
probably damaging |
1.00 |
X0066:Col22a1
|
UTSW |
15 |
71,846,200 (GRCm38) |
missense |
unknown |
|
X0066:Col22a1
|
UTSW |
15 |
71,801,879 (GRCm38) |
missense |
unknown |
|
Y5406:Col22a1
|
UTSW |
15 |
71,799,515 (GRCm38) |
missense |
unknown |
|
Z1177:Col22a1
|
UTSW |
15 |
71,915,120 (GRCm38) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACATCAATGGGAACGCTGTC -3'
(R):5'- TTATATTGCATAGGGCTCAGGAC -3'
Sequencing Primer
(F):5'- GTCATAGAGACGTTTGCCAATCACAG -3'
(R):5'- ATAGGGCTCAGGACTGACTCTG -3'
|
Posted On |
2018-02-28 |