Incidental Mutation 'R1742:Col22a1'
ID |
200458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Col22a1
|
Ensembl Gene |
ENSMUSG00000079022 |
Gene Name |
collagen, type XXII, alpha 1 |
Synonyms |
C80743, 2310067L16Rik |
MMRRC Submission |
039774-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1742 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71667644-71906076 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71673762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 985
(G985S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159993]
[ENSMUST00000229585]
|
AlphaFold |
E9Q7P1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000159993
AA Change: G1540S
|
SMART Domains |
Protein: ENSMUSP00000125069 Gene: ENSMUSG00000079022 AA Change: G1540S
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: G985S
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
C |
A |
18: 36,758,318 (GRCm39) |
A1004E |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,708,900 (GRCm39) |
S1071G |
probably damaging |
Het |
Arhgef5 |
T |
A |
6: 43,257,133 (GRCm39) |
I1228N |
probably damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Bptf |
A |
G |
11: 107,001,777 (GRCm39) |
V445A |
probably damaging |
Het |
Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
Ccdc171 |
T |
A |
4: 83,599,521 (GRCm39) |
S779T |
probably damaging |
Het |
Ccdc54 |
T |
C |
16: 50,410,601 (GRCm39) |
K222E |
possibly damaging |
Het |
Cebpe |
A |
G |
14: 54,949,057 (GRCm39) |
V120A |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,507,647 (GRCm39) |
|
probably null |
Het |
Col6a3 |
T |
A |
1: 90,741,516 (GRCm39) |
I639F |
probably damaging |
Het |
Cryga |
C |
A |
1: 65,142,280 (GRCm39) |
V38L |
probably benign |
Het |
Dll3 |
T |
C |
7: 27,993,848 (GRCm39) |
T530A |
probably benign |
Het |
Dnaaf9 |
A |
T |
2: 130,582,315 (GRCm39) |
|
probably null |
Het |
Dnah7a |
G |
A |
1: 53,495,843 (GRCm39) |
P3205S |
probably benign |
Het |
Dpp10 |
T |
A |
1: 123,372,935 (GRCm39) |
Y224F |
probably damaging |
Het |
Eif1ad10 |
C |
T |
12: 88,216,453 (GRCm39) |
D140N |
unknown |
Het |
Fcrl2 |
T |
C |
3: 87,166,350 (GRCm39) |
T142A |
possibly damaging |
Het |
Fyttd1 |
C |
T |
16: 32,725,923 (GRCm39) |
R175* |
probably null |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Gpr33 |
T |
C |
12: 52,071,045 (GRCm39) |
|
probably null |
Het |
Gse1 |
T |
A |
8: 121,293,689 (GRCm39) |
V205E |
probably damaging |
Het |
Herc4 |
C |
A |
10: 63,123,728 (GRCm39) |
N461K |
probably benign |
Het |
Ifi206 |
G |
A |
1: 173,309,537 (GRCm39) |
T153I |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,025,773 (GRCm39) |
I341V |
probably benign |
Het |
Itsn1 |
T |
G |
16: 91,613,847 (GRCm39) |
|
probably null |
Het |
Kcnk5 |
T |
A |
14: 20,191,925 (GRCm39) |
Y412F |
probably benign |
Het |
Lemd1 |
T |
A |
1: 132,156,036 (GRCm39) |
I26K |
probably damaging |
Het |
Lipc |
A |
T |
9: 70,727,811 (GRCm39) |
L12Q |
probably damaging |
Het |
Lrrtm1 |
C |
A |
6: 77,221,074 (GRCm39) |
P177Q |
probably damaging |
Het |
Mcph1 |
G |
A |
8: 18,657,379 (GRCm39) |
G73R |
probably benign |
Het |
Msantd5f6 |
T |
C |
4: 73,319,447 (GRCm39) |
D99G |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,037,908 (GRCm39) |
L899Q |
probably damaging |
Het |
Myo18a |
G |
T |
11: 77,732,293 (GRCm39) |
R822L |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,605,074 (GRCm39) |
T1000A |
probably benign |
Het |
Nox4 |
T |
C |
7: 86,945,026 (GRCm39) |
V94A |
possibly damaging |
Het |
Or10ag53 |
T |
A |
2: 87,083,122 (GRCm39) |
N280K |
probably benign |
Het |
Or4c123 |
G |
T |
2: 89,126,768 (GRCm39) |
P282H |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
Oxr1 |
T |
C |
15: 41,713,955 (GRCm39) |
L679P |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,619,629 (GRCm39) |
I473T |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,107,046 (GRCm39) |
E165D |
probably damaging |
Het |
Pgpep1l |
A |
T |
7: 67,886,802 (GRCm39) |
V169D |
probably damaging |
Het |
Phf12 |
C |
T |
11: 77,900,312 (GRCm39) |
T136I |
probably benign |
Het |
Pif1 |
T |
A |
9: 65,495,132 (GRCm39) |
M14K |
probably benign |
Het |
Pigr |
A |
G |
1: 130,772,823 (GRCm39) |
E347G |
probably damaging |
Het |
Plekha3 |
G |
A |
2: 76,513,223 (GRCm39) |
E103K |
possibly damaging |
Het |
Ptgs2 |
A |
G |
1: 149,980,150 (GRCm39) |
I363V |
probably damaging |
Het |
Rasl11a |
T |
A |
5: 146,783,805 (GRCm39) |
|
probably null |
Het |
Recql |
T |
C |
6: 142,310,298 (GRCm39) |
T511A |
probably damaging |
Het |
Rgl2 |
T |
A |
17: 34,156,197 (GRCm39) |
|
probably null |
Het |
Rpp25l |
T |
C |
4: 41,712,763 (GRCm39) |
Y4C |
probably damaging |
Het |
Sass6 |
T |
G |
3: 116,401,126 (GRCm39) |
C156G |
probably damaging |
Het |
Sgta |
T |
G |
10: 80,882,111 (GRCm39) |
N288T |
probably damaging |
Het |
Slco1a4 |
T |
A |
6: 141,770,771 (GRCm39) |
T282S |
probably benign |
Het |
Smad4 |
T |
C |
18: 73,808,968 (GRCm39) |
R100G |
probably damaging |
Het |
Sox8 |
C |
T |
17: 25,786,915 (GRCm39) |
V263M |
probably damaging |
Het |
Sp8 |
A |
G |
12: 118,813,552 (GRCm39) |
H469R |
probably benign |
Het |
Spata1 |
A |
T |
3: 146,175,378 (GRCm39) |
|
probably null |
Het |
Taar7a |
G |
A |
10: 23,869,117 (GRCm39) |
S88F |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,853,661 (GRCm39) |
L749S |
probably damaging |
Het |
Tollip |
C |
A |
7: 141,446,592 (GRCm39) |
R19L |
probably damaging |
Het |
Tox2 |
G |
A |
2: 163,067,446 (GRCm39) |
R55H |
probably benign |
Het |
Vmn2r27 |
T |
C |
6: 124,177,636 (GRCm39) |
E456G |
possibly damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,444,543 (GRCm39) |
N65K |
probably benign |
Het |
Vwf |
T |
C |
6: 125,644,513 (GRCm39) |
M2456T |
probably benign |
Het |
Zfp526 |
A |
G |
7: 24,923,939 (GRCm39) |
N66S |
possibly damaging |
Het |
Zic1 |
T |
C |
9: 91,243,629 (GRCm39) |
Y446C |
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 |
|
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 |
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'- TTTTCTCCTTAGAGTGGCCCAGGT -3'
(R):5'- TCAGAGCTGAGTCTCATCACTGTATGT -3'
Sequencing Primer
(F):5'- TGGCCCAGGTCCTCCTC -3'
(R):5'- tgtgtacctgtgtactttgtatttg -3'
|
Posted On |
2014-05-23 |