Incidental Mutation 'R1439:Col22a1'
ID |
160877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col22a1
|
Ensembl Gene |
ENSMUSG00000079022 |
Gene Name |
collagen, type XXII, alpha 1 |
Synonyms |
C80743, 2310067L16Rik |
MMRRC Submission |
039494-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1439 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71667644-71906076 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 71824226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159410]
[ENSMUST00000159993]
[ENSMUST00000229585]
|
AlphaFold |
E9Q7P1 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124182 Gene: ENSMUSG00000079022
Domain | Start | End | E-Value | Type |
Pfam:Collagen
|
1 |
57 |
2.6e-11 |
PFAM |
Pfam:Collagen
|
42 |
104 |
6.1e-12 |
PFAM |
Pfam:Collagen
|
103 |
163 |
9.6e-12 |
PFAM |
|
Predicted Effect |
probably benign
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162081
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229585
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
Validation Efficiency |
100% (72/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
A |
G |
1: 89,770,908 (GRCm39) |
N499S |
probably damaging |
Het |
AI661453 |
C |
A |
17: 47,777,587 (GRCm39) |
|
probably benign |
Het |
Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
Alkbh1 |
A |
G |
12: 87,475,915 (GRCm39) |
V289A |
probably damaging |
Het |
Bnc2 |
C |
T |
4: 84,194,305 (GRCm39) |
E1035K |
probably benign |
Het |
C1s2 |
T |
A |
6: 124,607,126 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,492,640 (GRCm39) |
I1885T |
probably damaging |
Het |
Cpne4 |
A |
T |
9: 104,866,831 (GRCm39) |
T248S |
probably damaging |
Het |
Cracd |
T |
C |
5: 76,988,757 (GRCm39) |
V36A |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
Ddx10 |
T |
A |
9: 53,151,787 (GRCm39) |
K79N |
probably damaging |
Het |
Dennd1a |
A |
C |
2: 37,933,412 (GRCm39) |
L131R |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,764,958 (GRCm39) |
Y3862C |
probably benign |
Het |
Eif3e |
A |
G |
15: 43,141,824 (GRCm39) |
|
probably benign |
Het |
Emsy |
T |
C |
7: 98,250,048 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
T |
5: 110,833,344 (GRCm39) |
D1959E |
unknown |
Het |
Fpr-rs7 |
A |
G |
17: 20,333,869 (GRCm39) |
I207T |
probably benign |
Het |
Fubp3 |
C |
A |
2: 31,488,563 (GRCm39) |
L140I |
probably damaging |
Het |
Gas2l2 |
T |
C |
11: 83,318,298 (GRCm39) |
D137G |
probably damaging |
Het |
Git1 |
G |
T |
11: 77,397,244 (GRCm39) |
R699L |
possibly damaging |
Het |
Gnao1 |
T |
A |
8: 94,690,065 (GRCm39) |
F27L |
probably benign |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Itga6 |
T |
G |
2: 71,664,378 (GRCm39) |
Y505D |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,782,178 (GRCm39) |
T205S |
probably benign |
Het |
Jakmip3 |
A |
T |
7: 138,631,375 (GRCm39) |
Y574F |
probably benign |
Het |
Laptm5 |
G |
T |
4: 130,653,520 (GRCm39) |
|
probably benign |
Het |
Mlana |
A |
T |
19: 29,684,252 (GRCm39) |
R71S |
probably benign |
Het |
Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,998,862 (GRCm39) |
|
probably null |
Het |
Nectin1 |
A |
G |
9: 43,703,396 (GRCm39) |
E218G |
possibly damaging |
Het |
Nectin3 |
A |
T |
16: 46,268,757 (GRCm39) |
Y548* |
probably null |
Het |
Nif3l1 |
T |
C |
1: 58,487,102 (GRCm39) |
F96S |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
Obsl1 |
C |
A |
1: 75,463,428 (GRCm39) |
E1755* |
probably null |
Het |
Or4p23 |
T |
C |
2: 88,577,178 (GRCm39) |
E18G |
possibly damaging |
Het |
Osbpl9 |
T |
C |
4: 108,958,353 (GRCm39) |
D74G |
probably damaging |
Het |
Osgin1 |
T |
A |
8: 120,169,852 (GRCm39) |
|
probably null |
Het |
Otogl |
A |
G |
10: 107,615,113 (GRCm39) |
Y1931H |
probably benign |
Het |
Pmepa1 |
A |
G |
2: 173,069,874 (GRCm39) |
I227T |
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,052,175 (GRCm39) |
N564K |
possibly damaging |
Het |
Prkaa1 |
T |
C |
15: 5,194,225 (GRCm39) |
F92S |
probably damaging |
Het |
Ptprd |
A |
G |
4: 75,984,437 (GRCm39) |
F811L |
probably damaging |
Het |
Rad54b |
A |
G |
4: 11,606,152 (GRCm39) |
K520R |
possibly damaging |
Het |
Rbfox1 |
A |
G |
16: 7,148,297 (GRCm39) |
T269A |
possibly damaging |
Het |
Rfwd3 |
T |
C |
8: 112,004,920 (GRCm39) |
Y554C |
probably damaging |
Het |
Rfx2 |
A |
T |
17: 57,094,720 (GRCm39) |
V208E |
probably damaging |
Het |
Rgs22 |
G |
T |
15: 36,025,939 (GRCm39) |
|
probably benign |
Het |
Rrbp1 |
A |
G |
2: 143,797,032 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,729,389 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,522,523 (GRCm39) |
|
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,833,759 (GRCm39) |
|
probably benign |
Het |
Sgsm2 |
C |
A |
11: 74,759,964 (GRCm39) |
R58L |
probably benign |
Het |
Slc25a36 |
A |
C |
9: 96,975,126 (GRCm39) |
|
probably benign |
Het |
Spink4 |
A |
G |
4: 40,929,121 (GRCm39) |
T49A |
possibly damaging |
Het |
Steap3 |
A |
T |
1: 120,155,550 (GRCm39) |
F470I |
probably damaging |
Het |
Stk10 |
A |
G |
11: 32,567,919 (GRCm39) |
Q907R |
probably damaging |
Het |
Tdrd5 |
A |
G |
1: 156,105,057 (GRCm39) |
V446A |
probably damaging |
Het |
Tmem117 |
G |
A |
15: 94,992,478 (GRCm39) |
M379I |
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,797,160 (GRCm39) |
L124P |
possibly damaging |
Het |
Trim9 |
G |
A |
12: 70,297,867 (GRCm39) |
H613Y |
probably damaging |
Het |
Trio |
A |
G |
15: 27,898,000 (GRCm39) |
W371R |
probably damaging |
Het |
Ulk4 |
G |
C |
9: 121,095,324 (GRCm39) |
H110D |
possibly damaging |
Het |
Upb1 |
T |
C |
10: 75,275,776 (GRCm39) |
V387A |
probably benign |
Het |
Utrn |
A |
T |
10: 12,619,793 (GRCm39) |
I284N |
possibly damaging |
Het |
Vmn2r111 |
C |
A |
17: 22,790,097 (GRCm39) |
W303L |
probably benign |
Het |
Vmn2r15 |
G |
T |
5: 109,441,953 (GRCm39) |
P160Q |
probably damaging |
Het |
Wdtc1 |
A |
G |
4: 133,029,118 (GRCm39) |
S323P |
probably benign |
Het |
Zfp846 |
T |
A |
9: 20,505,393 (GRCm39) |
C418S |
possibly damaging |
Het |
Zfyve26 |
G |
T |
12: 79,298,937 (GRCm39) |
P441Q |
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 |
|
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'- TGGAAGAGGATGACCCCTCAAGTC -3'
(R):5'- CCACGGAGAACTGTTGTCAACAAAC -3'
Sequencing Primer
(F):5'- ACTGTATGCCCCACTATTGTAAGG -3'
(R):5'- TACTTGAGGCTGTAGGAACACTC -3'
|
Posted On |
2014-03-14 |