Incidental Mutation 'R7699:Col22a1'
ID |
647903 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col22a1
|
Ensembl Gene |
ENSMUSG00000079022 |
Gene Name |
collagen, type XXII, alpha 1 |
Synonyms |
C80743, 2310067L16Rik |
MMRRC Submission |
045760-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7699 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71667644-71906076 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71845700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 354
(D354V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159993]
|
AlphaFold |
E9Q7P1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159993
AA Change: D354V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125069 Gene: ENSMUSG00000079022 AA Change: D354V
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 |
|
Meta Mutation Damage Score |
0.2473 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (74/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
C |
A |
9: 90,070,792 (GRCm39) |
P638T |
probably damaging |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,319,674 (GRCm39) |
I1404N |
probably damaging |
Het |
Cdc42se1 |
A |
G |
3: 95,139,908 (GRCm39) |
N35D |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,376,231 (GRCm39) |
S1447G |
probably benign |
Het |
Chd6 |
T |
A |
2: 160,867,863 (GRCm39) |
H436L |
probably benign |
Het |
Cnbd2 |
T |
C |
2: 156,217,326 (GRCm39) |
V605A |
probably benign |
Het |
Col25a1 |
T |
A |
3: 130,316,128 (GRCm39) |
|
probably null |
Het |
Cttnbp2 |
T |
A |
6: 18,514,734 (GRCm39) |
M1L |
possibly damaging |
Het |
Cux1 |
A |
T |
5: 136,514,593 (GRCm39) |
|
probably null |
Het |
Cylc2 |
T |
A |
4: 51,229,335 (GRCm39) |
S226T |
unknown |
Het |
Cyp4b1 |
T |
C |
4: 115,499,162 (GRCm39) |
D68G |
probably benign |
Het |
Dicer1 |
A |
C |
12: 104,671,429 (GRCm39) |
L947R |
probably damaging |
Het |
Dmp1 |
T |
C |
5: 104,359,590 (GRCm39) |
S89P |
probably damaging |
Het |
Dpf1 |
A |
G |
7: 29,011,032 (GRCm39) |
K144E |
possibly damaging |
Het |
Emc1 |
T |
A |
4: 139,082,181 (GRCm39) |
H94Q |
probably benign |
Het |
Ep300 |
C |
T |
15: 81,470,594 (GRCm39) |
|
probably benign |
Het |
Epha10 |
T |
C |
4: 124,796,440 (GRCm39) |
I383T |
|
Het |
Epo |
T |
A |
5: 137,483,438 (GRCm39) |
E5D |
probably benign |
Het |
Esp15 |
G |
A |
17: 39,955,624 (GRCm39) |
V64I |
possibly damaging |
Het |
Fbxl18 |
A |
T |
5: 142,871,504 (GRCm39) |
V577E |
probably damaging |
Het |
Fhl4 |
A |
T |
10: 84,934,113 (GRCm39) |
C223S |
probably damaging |
Het |
Fhl4 |
A |
T |
10: 84,934,379 (GRCm39) |
I134N |
probably benign |
Het |
Frmpd2 |
G |
T |
14: 33,264,895 (GRCm39) |
M891I |
probably benign |
Het |
Gk2 |
T |
C |
5: 97,604,257 (GRCm39) |
I194V |
probably benign |
Het |
Glt8d2 |
A |
C |
10: 82,498,122 (GRCm39) |
|
probably null |
Het |
Gm12886 |
G |
C |
4: 121,273,876 (GRCm39) |
H113Q |
possibly damaging |
Het |
Hycc1 |
A |
G |
5: 24,120,494 (GRCm39) |
S345P |
probably damaging |
Het |
Ighv1-36 |
A |
T |
12: 114,843,646 (GRCm39) |
Y71* |
probably null |
Het |
Il18bp |
A |
G |
7: 101,666,029 (GRCm39) |
W50R |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,054,195 (GRCm39) |
I33K |
probably benign |
Het |
Lama5 |
C |
T |
2: 179,822,654 (GRCm39) |
A2833T |
probably damaging |
Het |
Manea |
T |
G |
4: 26,340,758 (GRCm39) |
N68T |
probably benign |
Het |
Map1a |
T |
C |
2: 121,130,201 (GRCm39) |
L339P |
probably damaging |
Het |
Mblac1 |
A |
C |
5: 138,192,919 (GRCm39) |
D87A |
probably damaging |
Het |
Mmp24 |
C |
T |
2: 155,640,096 (GRCm39) |
T142I |
probably damaging |
Het |
Mpp2 |
T |
A |
11: 101,950,261 (GRCm39) |
H531L |
probably damaging |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Mx1 |
T |
A |
16: 97,249,521 (GRCm39) |
I339F |
unknown |
Het |
Naip2 |
G |
A |
13: 100,296,877 (GRCm39) |
T1053I |
probably benign |
Het |
Nckap1l |
A |
G |
15: 103,371,248 (GRCm39) |
|
probably null |
Het |
Or51f23c-ps1 |
A |
G |
7: 102,431,529 (GRCm39) |
Y282C |
possibly damaging |
Het |
Or5an1b |
T |
C |
19: 12,299,841 (GRCm39) |
T117A |
probably benign |
Het |
Otud7b |
T |
C |
3: 96,063,280 (GRCm39) |
F840L |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,333,373 (GRCm39) |
Y216C |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,915,142 (GRCm39) |
I133F |
|
Het |
Plaur |
A |
G |
7: 24,173,692 (GRCm39) |
N221S |
possibly damaging |
Het |
Plin4 |
T |
C |
17: 56,410,828 (GRCm39) |
T1068A |
probably benign |
Het |
Plxnd1 |
T |
C |
6: 115,936,755 (GRCm39) |
D1659G |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,391,022 (GRCm39) |
M1357K |
probably benign |
Het |
Prr36 |
G |
T |
8: 4,263,989 (GRCm39) |
T559N |
unknown |
Het |
Prss46 |
A |
G |
9: 110,678,622 (GRCm39) |
M2V |
probably benign |
Het |
Rbpms |
T |
A |
8: 34,354,391 (GRCm39) |
E51D |
probably damaging |
Het |
Rere |
C |
T |
4: 150,701,555 (GRCm39) |
R328W |
|
Het |
Retnla |
T |
A |
16: 48,663,176 (GRCm39) |
N26K |
probably benign |
Het |
Rubcnl |
G |
A |
14: 75,269,404 (GRCm39) |
V21I |
probably benign |
Het |
Safb |
T |
A |
17: 56,908,504 (GRCm39) |
S598R |
unknown |
Het |
Sertad4 |
A |
G |
1: 192,529,175 (GRCm39) |
S214P |
possibly damaging |
Het |
Sin3a |
C |
T |
9: 57,017,938 (GRCm39) |
Q786* |
probably null |
Het |
Slc8a3 |
A |
C |
12: 81,361,247 (GRCm39) |
L524W |
probably damaging |
Het |
Sp3 |
T |
C |
2: 72,801,573 (GRCm39) |
T191A |
probably benign |
Het |
Sp9 |
T |
C |
2: 73,103,724 (GRCm39) |
S93P |
probably damaging |
Het |
Tbrg1 |
A |
C |
9: 37,560,771 (GRCm39) |
H368Q |
probably benign |
Het |
Tinagl1 |
T |
G |
4: 130,061,832 (GRCm39) |
Q198H |
probably benign |
Het |
Usp19 |
C |
T |
9: 108,373,371 (GRCm39) |
R648* |
probably null |
Het |
Vmn2r124 |
A |
G |
17: 18,293,985 (GRCm39) |
M691V |
probably benign |
Het |
Vmn2r2 |
T |
A |
3: 64,024,536 (GRCm39) |
M682L |
possibly damaging |
Het |
Vps13d |
T |
A |
4: 144,811,975 (GRCm39) |
H3344L |
|
Het |
Vwa3a |
G |
A |
7: 120,351,841 (GRCm39) |
G35E |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,677,754 (GRCm39) |
S2935G |
probably benign |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp758 |
C |
A |
17: 22,594,646 (GRCm39) |
Y377* |
probably null |
Het |
Zfp952 |
A |
G |
17: 33,220,983 (GRCm39) |
K67R |
possibly 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 |
|
R0449:Col22a1
|
UTSW |
15 |
71,834,520 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- CTCACATCAATGGGAACGCTG -3'
(R):5'- TATTGCATAGGGCTCAGGACTG -3'
Sequencing Primer
(F):5'- GAGACGTTTGCCAATCACAGTCTTG -3'
(R):5'- ATAGGGCTCAGGACTGACTCTG -3'
|
Posted On |
2020-09-02 |