Incidental Mutation 'R1680:Col22a1'
ID |
188449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col22a1
|
Ensembl Gene |
ENSMUSG00000079022 |
Gene Name |
collagen, type XXII, alpha 1 |
Synonyms |
C80743, 2310067L16Rik |
MMRRC Submission |
039716-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1680 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71667644-71906076 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 71671210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1050
(A1050V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159993]
[ENSMUST00000229585]
|
AlphaFold |
E9Q7P1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158270
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159993
AA Change: A1605V
|
SMART Domains |
Protein: ENSMUSP00000125069 Gene: ENSMUSG00000079022 AA Change: A1605V
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000229585
AA Change: A1050V
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230974
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
C |
G |
10: 100,439,390 (GRCm39) |
P187R |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,987,327 (GRCm39) |
H2870Q |
probably benign |
Het |
Arhgef33 |
C |
T |
17: 80,655,080 (GRCm39) |
S95F |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,106,521 (GRCm39) |
D827V |
probably damaging |
Het |
Bcat1 |
T |
G |
6: 144,985,354 (GRCm39) |
D96A |
probably damaging |
Het |
Birc6 |
A |
T |
17: 74,855,741 (GRCm39) |
I184L |
probably benign |
Het |
Clca3b |
A |
T |
3: 144,543,585 (GRCm39) |
L415M |
probably damaging |
Het |
Clstn1 |
T |
C |
4: 149,728,183 (GRCm39) |
V617A |
probably benign |
Het |
Col5a3 |
C |
T |
9: 20,695,964 (GRCm39) |
|
probably null |
Het |
Csmd3 |
G |
A |
15: 47,604,566 (GRCm39) |
T1059I |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,838,545 (GRCm39) |
V272A |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,923,361 (GRCm39) |
Q187R |
probably damaging |
Het |
Dpp9 |
A |
G |
17: 56,497,103 (GRCm39) |
Y710H |
probably benign |
Het |
Eef1a2 |
A |
T |
2: 180,794,734 (GRCm39) |
M155K |
possibly damaging |
Het |
Entpd8 |
G |
A |
2: 24,974,036 (GRCm39) |
C331Y |
probably damaging |
Het |
Erc1 |
A |
C |
6: 119,552,722 (GRCm39) |
L1072R |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,824,291 (GRCm39) |
Y482C |
probably damaging |
Het |
Gtf3c2 |
A |
G |
5: 31,331,212 (GRCm39) |
S155P |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,699,491 (GRCm39) |
S617P |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,753,567 (GRCm39) |
R840G |
probably benign |
Het |
Il1rl2 |
T |
C |
1: 40,390,953 (GRCm39) |
Y299H |
possibly damaging |
Het |
Ints7 |
T |
G |
1: 191,353,274 (GRCm39) |
|
probably null |
Het |
Ireb2 |
C |
T |
9: 54,788,802 (GRCm39) |
T92I |
probably damaging |
Het |
Itprid1 |
C |
T |
6: 55,945,751 (GRCm39) |
T824I |
probably damaging |
Het |
Kcnj8 |
A |
T |
6: 142,515,915 (GRCm39) |
L64* |
probably null |
Het |
Mapk8ip3 |
A |
G |
17: 25,119,985 (GRCm39) |
V983A |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,643,556 (GRCm39) |
D985G |
probably benign |
Het |
Mical3 |
A |
T |
6: 120,936,604 (GRCm39) |
S1307R |
probably benign |
Het |
Mtcl3 |
A |
T |
10: 29,072,835 (GRCm39) |
Q709L |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,248,825 (GRCm39) |
D222G |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,441,824 (GRCm39) |
S295* |
probably null |
Het |
Nlrp12 |
T |
A |
7: 3,289,804 (GRCm39) |
D236V |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,612,563 (GRCm39) |
V74A |
probably benign |
Het |
Oasl1 |
A |
G |
5: 115,074,003 (GRCm39) |
D304G |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,319,940 (GRCm39) |
D271G |
possibly damaging |
Het |
Or7g12 |
A |
G |
9: 18,899,812 (GRCm39) |
H176R |
possibly damaging |
Het |
Or8g22 |
T |
C |
9: 38,958,296 (GRCm39) |
I140V |
probably benign |
Het |
Or8h8 |
C |
T |
2: 86,753,505 (GRCm39) |
V124I |
probably benign |
Het |
Patz1 |
A |
G |
11: 3,257,812 (GRCm39) |
K604E |
probably damaging |
Het |
Pcsk6 |
T |
A |
7: 65,684,998 (GRCm39) |
V793E |
probably benign |
Het |
Pla2g4d |
C |
T |
2: 120,108,231 (GRCm39) |
|
probably null |
Het |
Plxnc1 |
A |
C |
10: 94,677,413 (GRCm39) |
L938R |
probably benign |
Het |
Pou4f2 |
G |
T |
8: 79,161,460 (GRCm39) |
A381D |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,735,087 (GRCm39) |
L685P |
possibly damaging |
Het |
Pxn |
T |
A |
5: 115,690,206 (GRCm39) |
V383E |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,016,703 (GRCm39) |
L632P |
probably damaging |
Het |
Rnf135 |
T |
A |
11: 80,087,707 (GRCm39) |
S219T |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,682,262 (GRCm39) |
D2039G |
possibly damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Slc5a6 |
A |
G |
5: 31,199,988 (GRCm39) |
Y131H |
probably damaging |
Het |
Slc9a1 |
T |
C |
4: 133,145,391 (GRCm39) |
I492T |
probably damaging |
Het |
Spag5 |
A |
G |
11: 78,211,442 (GRCm39) |
K993E |
probably damaging |
Het |
Sptbn1 |
T |
G |
11: 30,109,371 (GRCm39) |
I75L |
possibly damaging |
Het |
Syngap1 |
T |
C |
17: 27,171,553 (GRCm39) |
S46P |
possibly damaging |
Het |
Tfcp2l1 |
T |
A |
1: 118,603,335 (GRCm39) |
F458I |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,087,840 (GRCm39) |
V102A |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,942,324 (GRCm39) |
S34P |
unknown |
Het |
Txlnb |
G |
T |
10: 17,718,981 (GRCm39) |
G604V |
probably benign |
Het |
Ube2q1 |
A |
G |
3: 89,683,483 (GRCm39) |
T143A |
probably benign |
Het |
Unc80 |
C |
T |
1: 66,542,828 (GRCm39) |
R361* |
probably null |
Het |
Vcan |
T |
C |
13: 89,851,666 (GRCm39) |
D1098G |
probably benign |
Het |
Vmn1r176 |
T |
A |
7: 23,534,806 (GRCm39) |
T116S |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,345,249 (GRCm39) |
R6K |
probably benign |
Het |
Zan |
T |
A |
5: 137,401,312 (GRCm39) |
T4136S |
unknown |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp606 |
A |
T |
7: 12,227,898 (GRCm39) |
H615L |
probably damaging |
Het |
Zp3r |
A |
T |
1: 130,510,617 (GRCm39) |
N433K |
probably benign |
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 |
|
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'- ACATGGTCAGGGTTGCATAGCAC -3'
(R):5'- ACAGCACAGATTACAGGGCTGTTTC -3'
Sequencing Primer
(F):5'- aggcaggcaaggagaaaag -3'
(R):5'- AGATTACAGGGCTGTTTCTCTCC -3'
|
Posted On |
2014-05-09 |