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) question?
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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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