Incidental Mutation 'R3940:Col22a1'
ID 307420
Institutional Source Beutler Lab
Gene Symbol Col22a1
Ensembl Gene ENSMUSG00000079022
Gene Name collagen, type XXII, alpha 1
Synonyms C80743, 2310067L16Rik
MMRRC Submission 040922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3940 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 71667644-71906076 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 71853782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 260 (L260*)
Ref Sequence ENSEMBL: ENSMUSP00000125069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159993]
AlphaFold E9Q7P1
Predicted Effect probably null
Transcript: ENSMUST00000159993
AA Change: L260*
SMART Domains Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: L260*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Acta2 A T 19: 34,220,880 (GRCm39) I276N possibly damaging Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Ankrd42 T C 7: 92,240,996 (GRCm39) probably null Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fam135a T A 1: 24,096,556 (GRCm39) H63L probably damaging Het
Fmo3 T A 1: 162,791,555 (GRCm39) T241S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Pkn2 G A 3: 142,499,672 (GRCm39) S951L probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Stim1 A G 7: 102,084,848 (GRCm39) N600S probably benign Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K probably benign 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
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'- CAGGCACCACGAAGTATGCTAC -3'
(R):5'- ATGACTCATAGCTTGGCTGC -3'

Sequencing Primer
(F):5'- ACGAAGTATGCTACCATTAGCTCAG -3'
(R):5'- GACTCATAGCTTGGCTGCTCTTG -3'
Posted On 2015-04-17