Incidental Mutation 'R0449:Col22a1'
ID |
39553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col22a1
|
Ensembl Gene |
ENSMUSG00000079022 |
Gene Name |
collagen, type XXII, alpha 1 |
Synonyms |
C80743, 2310067L16Rik |
MMRRC Submission |
038649-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0449 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71667644-71906076 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 71834520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159993]
|
AlphaFold |
E9Q7P1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000159993
|
SMART Domains |
Protein: ENSMUSP00000125069 Gene: ENSMUSG00000079022
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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,989,885 (GRCm39) |
R813* |
probably null |
Het |
Accsl |
T |
A |
2: 93,696,419 (GRCm39) |
I60F |
probably benign |
Het |
Adam29 |
C |
T |
8: 56,325,716 (GRCm39) |
G246D |
probably benign |
Het |
Ankrd13c |
A |
G |
3: 157,697,351 (GRCm39) |
I319V |
probably benign |
Het |
Bag6 |
T |
G |
17: 35,360,442 (GRCm39) |
V327G |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,805,304 (GRCm39) |
A130T |
probably benign |
Het |
Bend4 |
T |
C |
5: 67,555,583 (GRCm39) |
D541G |
probably damaging |
Het |
Birc6 |
A |
C |
17: 74,999,290 (GRCm39) |
T4673P |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,539,679 (GRCm39) |
R186G |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,309,931 (GRCm39) |
F342L |
probably damaging |
Het |
Chd3 |
C |
A |
11: 69,248,367 (GRCm39) |
V748L |
probably damaging |
Het |
CN725425 |
G |
T |
15: 91,123,147 (GRCm39) |
R72I |
possibly damaging |
Het |
Cops3 |
A |
G |
11: 59,709,243 (GRCm39) |
|
probably null |
Het |
Ctnnd1 |
G |
T |
2: 84,433,606 (GRCm39) |
Q940K |
possibly damaging |
Het |
Dtnb |
C |
T |
12: 3,641,971 (GRCm39) |
Q45* |
probably null |
Het |
Efr3a |
T |
A |
15: 65,714,553 (GRCm39) |
I280K |
probably damaging |
Het |
Eml6 |
A |
C |
11: 29,843,213 (GRCm39) |
V167G |
probably benign |
Het |
Fam83c |
T |
A |
2: 155,672,215 (GRCm39) |
M407L |
probably benign |
Het |
Fasn |
T |
C |
11: 120,701,894 (GRCm39) |
T1862A |
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,420,155 (GRCm39) |
I486T |
probably damaging |
Het |
Gpr182 |
A |
G |
10: 127,586,565 (GRCm39) |
Y129H |
probably damaging |
Het |
Gpr75 |
A |
G |
11: 30,842,456 (GRCm39) |
S454G |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,502,653 (GRCm39) |
|
probably null |
Het |
Hsf4 |
A |
G |
8: 106,002,222 (GRCm39) |
T411A |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Il4 |
A |
T |
11: 53,509,432 (GRCm39) |
M1K |
probably null |
Het |
Ints11 |
G |
T |
4: 155,972,405 (GRCm39) |
R463L |
probably benign |
Het |
Ints4 |
G |
A |
7: 97,178,430 (GRCm39) |
E677K |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,647,216 (GRCm39) |
C50Y |
probably damaging |
Het |
Krt14 |
C |
A |
11: 100,098,221 (GRCm39) |
G21C |
unknown |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,633,569 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,634,478 (GRCm39) |
L1414P |
probably damaging |
Het |
Matn2 |
T |
C |
15: 34,428,687 (GRCm39) |
S684P |
probably damaging |
Het |
Mga |
T |
A |
2: 119,771,862 (GRCm39) |
V1574D |
probably damaging |
Het |
Mia2 |
T |
C |
12: 59,219,380 (GRCm39) |
|
probably null |
Het |
Mrpl21 |
T |
A |
19: 3,342,459 (GRCm39) |
|
probably benign |
Het |
Msh5 |
T |
A |
17: 35,260,458 (GRCm39) |
Q266L |
probably benign |
Het |
Mybpc1 |
C |
A |
10: 88,376,822 (GRCm39) |
C758F |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,400,422 (GRCm39) |
A2932T |
possibly damaging |
Het |
Nbas |
T |
A |
12: 13,569,109 (GRCm39) |
I2021K |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,796,393 (GRCm39) |
S424P |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,965 (GRCm39) |
V201E |
probably damaging |
Het |
Or2w3 |
A |
C |
11: 58,556,789 (GRCm39) |
I135L |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,187,103 (GRCm39) |
M224V |
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,767,945 (GRCm39) |
M8T |
probably benign |
Het |
Or7g32 |
T |
A |
9: 19,389,388 (GRCm39) |
I53F |
possibly damaging |
Het |
Phlpp1 |
C |
T |
1: 106,278,308 (GRCm39) |
R907W |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,484,277 (GRCm39) |
V508A |
probably benign |
Het |
Pkhd1l1 |
T |
G |
15: 44,364,915 (GRCm39) |
Y685D |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,534,534 (GRCm39) |
I34N |
probably damaging |
Het |
Pramel17 |
T |
C |
4: 101,694,158 (GRCm39) |
S242G |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,411,297 (GRCm39) |
V1434A |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,601,005 (GRCm39) |
D124V |
probably damaging |
Het |
Rad54b |
T |
A |
4: 11,606,131 (GRCm39) |
I513N |
probably benign |
Het |
Rbm12b1 |
A |
G |
4: 12,145,507 (GRCm39) |
N493S |
probably benign |
Het |
Rfx7 |
A |
T |
9: 72,517,586 (GRCm39) |
|
probably null |
Het |
Serpini1 |
A |
G |
3: 75,520,648 (GRCm39) |
K82E |
probably benign |
Het |
Slc27a6 |
T |
G |
18: 58,742,237 (GRCm39) |
|
probably null |
Het |
Slc35f2 |
G |
T |
9: 53,724,201 (GRCm39) |
L358F |
probably damaging |
Het |
Slc45a1 |
A |
C |
4: 150,727,762 (GRCm39) |
I158M |
probably damaging |
Het |
Slurp2 |
G |
A |
15: 74,614,955 (GRCm39) |
P62L |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,443,674 (GRCm39) |
H1949Y |
probably damaging |
Het |
Tiam1 |
A |
T |
16: 89,634,715 (GRCm39) |
V865E |
possibly damaging |
Het |
Tlr4 |
A |
C |
4: 66,757,857 (GRCm39) |
I217L |
probably damaging |
Het |
Top1 |
C |
T |
2: 160,554,628 (GRCm39) |
R460* |
probably null |
Het |
Trpm3 |
T |
A |
19: 22,965,418 (GRCm39) |
S1638T |
probably benign |
Het |
Tubgcp5 |
C |
T |
7: 55,473,315 (GRCm39) |
R798C |
probably benign |
Het |
Vars1 |
T |
G |
17: 35,231,703 (GRCm39) |
|
probably null |
Het |
Xylt2 |
A |
G |
11: 94,557,159 (GRCm39) |
Y111H |
probably benign |
Het |
Zbed5 |
G |
A |
5: 129,930,567 (GRCm39) |
G172D |
probably damaging |
Het |
Zfp53 |
C |
T |
17: 21,729,095 (GRCm39) |
T376I |
probably benign |
Het |
Zfp937 |
G |
T |
2: 150,081,466 (GRCm39) |
V499L |
probably benign |
Het |
Zyx |
T |
A |
6: 42,328,247 (GRCm39) |
L152Q |
probably damaging |
Het |
|
Other mutations in Col22a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Col22a1
|
APN |
15 |
71,732,807 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00434:Col22a1
|
APN |
15 |
71,878,524 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL00721:Col22a1
|
APN |
15 |
71,718,026 (GRCm39) |
missense |
unknown |
|
IGL00902:Col22a1
|
APN |
15 |
71,836,508 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01311:Col22a1
|
APN |
15 |
71,845,486 (GRCm39) |
splice site |
probably benign |
|
IGL01329:Col22a1
|
APN |
15 |
71,778,889 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01527:Col22a1
|
APN |
15 |
71,778,880 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01870:Col22a1
|
APN |
15 |
71,824,377 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02002:Col22a1
|
APN |
15 |
71,682,946 (GRCm39) |
splice site |
probably benign |
|
IGL02248:Col22a1
|
APN |
15 |
71,671,297 (GRCm39) |
missense |
unknown |
|
IGL02322:Col22a1
|
APN |
15 |
71,694,502 (GRCm39) |
missense |
unknown |
|
IGL02472:Col22a1
|
APN |
15 |
71,699,602 (GRCm39) |
splice site |
probably benign |
|
IGL02685:Col22a1
|
APN |
15 |
71,673,764 (GRCm39) |
missense |
unknown |
|
IGL02888:Col22a1
|
APN |
15 |
71,718,068 (GRCm39) |
missense |
unknown |
|
IGL02971:Col22a1
|
APN |
15 |
71,878,587 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03175:Col22a1
|
APN |
15 |
71,840,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03240:Col22a1
|
APN |
15 |
71,679,777 (GRCm39) |
missense |
unknown |
|
R0083:Col22a1
|
UTSW |
15 |
71,762,346 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0383:Col22a1
|
UTSW |
15 |
71,740,853 (GRCm39) |
missense |
unknown |
|
R0508:Col22a1
|
UTSW |
15 |
71,805,262 (GRCm39) |
missense |
unknown |
|
R0944:Col22a1
|
UTSW |
15 |
71,753,511 (GRCm39) |
missense |
probably benign |
0.03 |
R1289:Col22a1
|
UTSW |
15 |
71,709,226 (GRCm39) |
missense |
unknown |
|
R1436:Col22a1
|
UTSW |
15 |
71,794,806 (GRCm39) |
splice site |
probably benign |
|
R1439:Col22a1
|
UTSW |
15 |
71,824,226 (GRCm39) |
splice site |
probably benign |
|
R1460:Col22a1
|
UTSW |
15 |
71,693,780 (GRCm39) |
missense |
unknown |
|
R1680:Col22a1
|
UTSW |
15 |
71,671,210 (GRCm39) |
missense |
unknown |
|
R1715:Col22a1
|
UTSW |
15 |
71,878,830 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1742:Col22a1
|
UTSW |
15 |
71,673,762 (GRCm39) |
missense |
unknown |
|
R1745:Col22a1
|
UTSW |
15 |
71,878,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Col22a1
|
UTSW |
15 |
71,879,025 (GRCm39) |
missense |
probably damaging |
0.96 |
R1932:Col22a1
|
UTSW |
15 |
71,741,989 (GRCm39) |
missense |
unknown |
|
R2125:Col22a1
|
UTSW |
15 |
71,720,426 (GRCm39) |
missense |
unknown |
|
R2126:Col22a1
|
UTSW |
15 |
71,729,102 (GRCm39) |
nonsense |
probably null |
|
R2137:Col22a1
|
UTSW |
15 |
71,878,797 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2860:Col22a1
|
UTSW |
15 |
71,687,792 (GRCm39) |
critical splice donor site |
probably null |
|
R2861:Col22a1
|
UTSW |
15 |
71,687,792 (GRCm39) |
critical splice donor site |
probably null |
|
R2862:Col22a1
|
UTSW |
15 |
71,687,792 (GRCm39) |
critical splice donor site |
probably null |
|
R3704:Col22a1
|
UTSW |
15 |
71,842,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R3778:Col22a1
|
UTSW |
15 |
71,845,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R3940:Col22a1
|
UTSW |
15 |
71,853,782 (GRCm39) |
nonsense |
probably null |
|
R3950:Col22a1
|
UTSW |
15 |
71,849,207 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4240:Col22a1
|
UTSW |
15 |
71,878,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R4531:Col22a1
|
UTSW |
15 |
71,878,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R4597:Col22a1
|
UTSW |
15 |
71,836,511 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4604:Col22a1
|
UTSW |
15 |
71,824,188 (GRCm39) |
missense |
probably benign |
0.36 |
R4654:Col22a1
|
UTSW |
15 |
71,845,544 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4782:Col22a1
|
UTSW |
15 |
71,673,774 (GRCm39) |
missense |
unknown |
|
R4847:Col22a1
|
UTSW |
15 |
71,671,348 (GRCm39) |
missense |
unknown |
|
R4980:Col22a1
|
UTSW |
15 |
71,673,792 (GRCm39) |
missense |
unknown |
|
R4981:Col22a1
|
UTSW |
15 |
71,732,915 (GRCm39) |
missense |
unknown |
|
R4996:Col22a1
|
UTSW |
15 |
71,879,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R5007:Col22a1
|
UTSW |
15 |
71,816,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:Col22a1
|
UTSW |
15 |
71,671,186 (GRCm39) |
missense |
unknown |
|
R5197:Col22a1
|
UTSW |
15 |
71,881,255 (GRCm39) |
missense |
probably damaging |
0.96 |
R5292:Col22a1
|
UTSW |
15 |
71,842,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R5449:Col22a1
|
UTSW |
15 |
71,693,798 (GRCm39) |
missense |
unknown |
|
R5480:Col22a1
|
UTSW |
15 |
71,836,460 (GRCm39) |
missense |
probably damaging |
0.98 |
R5627:Col22a1
|
UTSW |
15 |
71,853,767 (GRCm39) |
missense |
probably damaging |
0.98 |
R5828:Col22a1
|
UTSW |
15 |
71,881,340 (GRCm39) |
missense |
probably benign |
0.01 |
R5927:Col22a1
|
UTSW |
15 |
71,878,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R6006:Col22a1
|
UTSW |
15 |
71,845,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R6245:Col22a1
|
UTSW |
15 |
71,845,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R6288:Col22a1
|
UTSW |
15 |
71,766,718 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6482:Col22a1
|
UTSW |
15 |
71,762,338 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6497:Col22a1
|
UTSW |
15 |
71,762,425 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6579:Col22a1
|
UTSW |
15 |
71,753,502 (GRCm39) |
missense |
probably benign |
0.18 |
R6643:Col22a1
|
UTSW |
15 |
71,693,886 (GRCm39) |
splice site |
probably null |
|
R6663:Col22a1
|
UTSW |
15 |
71,691,908 (GRCm39) |
missense |
unknown |
|
R7179:Col22a1
|
UTSW |
15 |
71,805,262 (GRCm39) |
missense |
unknown |
|
R7215:Col22a1
|
UTSW |
15 |
71,842,181 (GRCm39) |
nonsense |
probably null |
|
R7216:Col22a1
|
UTSW |
15 |
71,845,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R7505:Col22a1
|
UTSW |
15 |
71,671,248 (GRCm39) |
nonsense |
probably null |
|
R7585:Col22a1
|
UTSW |
15 |
71,764,054 (GRCm39) |
missense |
probably damaging |
0.99 |
R7699:Col22a1
|
UTSW |
15 |
71,845,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R7788:Col22a1
|
UTSW |
15 |
71,824,166 (GRCm39) |
critical splice donor site |
probably null |
|
R7921:Col22a1
|
UTSW |
15 |
71,853,811 (GRCm39) |
splice site |
probably null |
|
R8205:Col22a1
|
UTSW |
15 |
71,732,918 (GRCm39) |
missense |
unknown |
|
R8769:Col22a1
|
UTSW |
15 |
71,878,571 (GRCm39) |
missense |
probably benign |
0.21 |
R8780:Col22a1
|
UTSW |
15 |
71,878,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R8827:Col22a1
|
UTSW |
15 |
71,774,665 (GRCm39) |
critical splice donor site |
probably null |
|
R8843:Col22a1
|
UTSW |
15 |
71,878,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R8982:Col22a1
|
UTSW |
15 |
71,845,487 (GRCm39) |
critical splice donor site |
probably null |
|
R9031:Col22a1
|
UTSW |
15 |
71,753,523 (GRCm39) |
nonsense |
probably null |
|
R9036:Col22a1
|
UTSW |
15 |
71,762,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R9084:Col22a1
|
UTSW |
15 |
71,691,929 (GRCm39) |
missense |
unknown |
|
R9281:Col22a1
|
UTSW |
15 |
71,732,920 (GRCm39) |
missense |
unknown |
|
R9386:Col22a1
|
UTSW |
15 |
71,853,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R9406:Col22a1
|
UTSW |
15 |
71,845,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R9577:Col22a1
|
UTSW |
15 |
71,837,595 (GRCm39) |
missense |
probably damaging |
0.99 |
R9727:Col22a1
|
UTSW |
15 |
71,849,123 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Col22a1
|
UTSW |
15 |
71,718,049 (GRCm39) |
missense |
unknown |
|
X0066:Col22a1
|
UTSW |
15 |
71,673,728 (GRCm39) |
missense |
unknown |
|
Y5406:Col22a1
|
UTSW |
15 |
71,671,364 (GRCm39) |
missense |
unknown |
|
Z1177:Col22a1
|
UTSW |
15 |
71,786,969 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTGACCAGGCCACTATTTCTCAAG -3'
(R):5'- TTTTCAGAGGTGACAGGCAGAGTTG -3'
Sequencing Primer
(F):5'- GGCCAAATTTCCAGTAGACAGTTC -3'
(R):5'- TGACAGGCAGAGTTGATGAG -3'
|
Posted On |
2013-05-23 |