Incidental Mutation 'R7921:Col22a1'
ID 656382
Institutional Source Beutler Lab
Gene Symbol Col22a1
Ensembl Gene ENSMUSG00000079022
Gene Name collagen, type XXII, alpha 1
Synonyms C80743, 2310067L16Rik
MMRRC Submission 045968-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7921 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 71667644-71906076 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 71853811 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

DomainStartEndE-ValueType
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 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (84/88)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,654,954 (GRCm39) M1426R probably benign Het
Adh7 A T 3: 137,929,771 (GRCm39) Y149F probably damaging Het
Ankdd1b C A 13: 96,561,288 (GRCm39) V319F possibly damaging Het
Ankrd13d T C 19: 4,321,058 (GRCm39) D483G probably damaging Het
Anks4b A T 7: 119,781,992 (GRCm39) E341V probably benign Het
Aqp12 A G 1: 92,939,730 (GRCm39) H253R probably benign Het
Atp2c1 A G 9: 105,291,886 (GRCm39) I892T probably damaging Het
Atp8b3 A T 10: 80,366,437 (GRCm39) N275K probably damaging Het
Carmil2 C A 8: 106,417,736 (GRCm39) N610K probably damaging Het
Cd96 GCCCAAAC G 16: 45,858,843 (GRCm39) probably null Het
Cdh10 A T 15: 18,992,042 (GRCm39) I434F probably damaging Het
Celf1 A T 2: 90,829,092 (GRCm39) Q53L probably benign Het
Cers4 T A 8: 4,565,704 (GRCm39) V50E probably damaging Het
Cfap144 T C 11: 58,692,607 (GRCm39) H40R possibly damaging Het
Chd9 T C 8: 91,768,909 (GRCm39) probably null Het
Cir1 A G 2: 73,140,799 (GRCm39) probably null Het
Ckap5 A G 2: 91,379,285 (GRCm39) Y75C probably damaging Het
Cndp1 A G 18: 84,640,383 (GRCm39) M274T probably benign Het
Col24a1 G T 3: 145,179,993 (GRCm39) G1162C probably damaging Het
Cr2 A T 1: 194,833,975 (GRCm39) L938Q possibly damaging Het
Cubn G A 2: 13,429,538 (GRCm39) T1321I probably benign Het
Cyp3a44 G A 5: 145,728,498 (GRCm39) P242L probably damaging Het
Ddx4 A T 13: 112,738,041 (GRCm39) D539E probably benign Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dgkd G T 1: 87,851,806 (GRCm39) V403L probably damaging Het
Dnah2 T A 11: 69,411,660 (GRCm39) M321L probably benign Het
Dpy19l1 A T 9: 24,333,634 (GRCm39) M433K possibly damaging Het
Enoph1 A G 5: 100,208,992 (GRCm39) K116E probably benign Het
Exd1 C A 2: 119,360,580 (GRCm39) C174F probably damaging Het
Exoc7 A T 11: 116,188,508 (GRCm39) probably null Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Farp2 G C 1: 93,495,237 (GRCm39) probably null Het
Fbxo22 A T 9: 55,125,637 (GRCm39) I167L probably benign Het
Fchsd2 A G 7: 100,899,749 (GRCm39) N365S probably benign Het
Fgr T G 4: 132,713,832 (GRCm39) probably null Het
Fkbp9 A G 6: 56,828,370 (GRCm39) D194G probably damaging Het
Flnb T C 14: 7,933,800 (GRCm38) S2152P possibly damaging Het
Flnc A G 6: 29,447,769 (GRCm39) I1191V possibly damaging Het
Fpr-rs7 A T 17: 20,333,667 (GRCm39) N274K probably benign Het
Fuca1 A G 4: 135,657,221 (GRCm39) D211G probably damaging Het
Glb1l2 C T 9: 26,685,264 (GRCm39) probably null Het
Gm48552 T C 10: 81,226,826 (GRCm39) *136R probably null Het
Hdgfl2 T C 17: 56,400,724 (GRCm39) probably null Het
Icmt T G 4: 152,387,615 (GRCm39) V270G probably damaging Het
Icosl A T 10: 77,909,574 (GRCm39) D173V probably benign Het
Icosl G A 10: 77,909,786 (GRCm39) V244I probably benign Het
Iqsec1 C T 6: 90,644,923 (GRCm39) R903H probably damaging Het
Lrtm2 G A 6: 119,294,328 (GRCm39) P268S possibly damaging Het
Methig1 T A 15: 100,251,251 (GRCm39) L54Q probably benign Het
Mga T A 2: 119,750,159 (GRCm39) L686H probably damaging Het
Mki67 A T 7: 135,296,933 (GRCm39) S2700R probably benign Het
Muc16 T A 9: 18,570,614 (GRCm39) D635V unknown Het
Muc4 G A 16: 32,570,139 (GRCm39) V400I possibly damaging Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Myh8 T C 11: 67,174,644 (GRCm39) I253T probably damaging Het
Myo15b A T 11: 115,778,004 (GRCm39) K852* probably null Het
Myo19 C T 11: 84,799,064 (GRCm39) T799I possibly damaging Het
Naca T G 10: 127,878,918 (GRCm39) S1317A unknown Het
Nipa1 T C 7: 55,629,558 (GRCm39) Y185C probably damaging Het
Nlrc5 T A 8: 95,214,292 (GRCm39) N910K probably damaging Het
Nucks1 G T 1: 131,838,474 (GRCm39) M1I probably null Het
Nudt13 T C 14: 20,354,140 (GRCm39) V68A probably benign Het
Oacyl A T 18: 65,858,454 (GRCm39) M260L probably benign Het
Or12d16-ps1 C T 17: 37,706,333 (GRCm39) L301F possibly damaging Het
Or51a5 A T 7: 102,771,635 (GRCm39) S115T probably damaging Het
Or6b13 A T 7: 139,782,212 (GRCm39) I157N probably damaging Het
Osbpl6 A G 2: 76,415,441 (GRCm39) N601S probably damaging Het
Pcdh9 A G 14: 93,253,001 (GRCm39) S1221P probably benign Het
Pcdhb16 T C 18: 37,611,298 (GRCm39) L86P probably damaging Het
Pclo A C 5: 14,719,248 (GRCm39) Q1128H unknown Het
Pcnx2 T A 8: 126,564,602 (GRCm39) Y1097F probably benign Het
Per1 T A 11: 68,991,605 (GRCm39) D46E probably damaging Het
Plce1 T A 19: 38,608,997 (GRCm39) D435E probably benign Het
Pramel22 T C 4: 143,383,135 (GRCm39) E28G probably damaging Het
Prkaa1 C A 15: 5,206,632 (GRCm39) Q461K probably damaging Het
Proc C T 18: 32,256,470 (GRCm39) G399D probably damaging Het
Rbak G T 5: 143,160,017 (GRCm39) S345R probably damaging Het
Rsph3b T C 17: 7,172,490 (GRCm39) I325V probably benign Het
Sbf1 A T 15: 89,190,426 (GRCm39) L323Q probably damaging Het
Scd3 G A 19: 44,224,331 (GRCm39) R188H possibly damaging Het
Setdb1 T G 3: 95,233,710 (GRCm39) N1067H possibly damaging Het
Spopl G A 2: 23,435,490 (GRCm39) T15I probably benign Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Stk39 A G 2: 68,137,383 (GRCm39) probably null Het
Syt13 G T 2: 92,783,991 (GRCm39) M420I probably damaging Het
Tas1r1 A T 4: 152,113,118 (GRCm39) I645N possibly damaging Het
Tbx3 G T 5: 119,818,935 (GRCm39) Q523H probably benign Het
Tbx3 A T 5: 119,818,934 (GRCm39) Q523L possibly damaging Het
Tcf23 C T 5: 31,127,494 (GRCm39) Q99* probably null Het
Tfip11 T A 5: 112,483,442 (GRCm39) M619K probably benign Het
Tg A T 15: 66,555,642 (GRCm39) H778L probably benign Het
Utp3 A G 5: 88,702,755 (GRCm39) S95G probably benign Het
Zfp458 T A 13: 67,404,180 (GRCm39) *753L probably null Het
Zfp9 T C 6: 118,442,032 (GRCm39) Y210C possibly damaging Het
Other mutations in Col22a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CAGGCACCACGAAGTATGCTAC -3'
(R):5'- ACATGACTCATAGCTTGGCTG -3'

Sequencing Primer
(F):5'- ACGAAGTATGCTACCATTAGCTCAG -3'
(R):5'- GACTCATAGCTTGGCTGCTCTTG -3'
Posted On 2020-10-29