Incidental Mutation 'R1171:Col11a1'
ID99382
Institutional Source Beutler Lab
Gene Symbol Col11a1
Ensembl Gene ENSMUSG00000027966
Gene Namecollagen, type XI, alpha 1
SynonymsC530001D20Rik
MMRRC Submission 039244-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.871) question?
Stock #R1171 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location114030540-114220718 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114066564 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 213 (D213G)
Ref Sequence ENSEMBL: ENSMUSP00000089793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092155] [ENSMUST00000123619]
Predicted Effect unknown
Transcript: ENSMUST00000092155
AA Change: D213G
SMART Domains Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: D213G

DomainStartEndE-ValueType
TSPN 37 228 1.83e-62 SMART
LamG 96 227 5.87e-11 SMART
low complexity region 256 276 N/A INTRINSIC
internal_repeat_4 357 431 3.12e-6 PROSPERO
Pfam:Collagen 433 491 2.6e-9 PFAM
Pfam:Collagen 525 586 5.9e-9 PFAM
low complexity region 611 632 N/A INTRINSIC
low complexity region 638 677 N/A INTRINSIC
Pfam:Collagen 721 805 3.6e-8 PFAM
internal_repeat_3 814 854 3.55e-9 PROSPERO
internal_repeat_1 818 869 2.01e-16 PROSPERO
low complexity region 872 944 N/A INTRINSIC
low complexity region 952 1001 N/A INTRINSIC
low complexity region 1031 1059 N/A INTRINSIC
low complexity region 1066 1100 N/A INTRINSIC
low complexity region 1103 1121 N/A INTRINSIC
internal_repeat_2 1124 1188 2.4e-12 PROSPERO
low complexity region 1189 1205 N/A INTRINSIC
low complexity region 1211 1232 N/A INTRINSIC
low complexity region 1235 1250 N/A INTRINSIC
low complexity region 1252 1368 N/A INTRINSIC
low complexity region 1373 1392 N/A INTRINSIC
low complexity region 1417 1448 N/A INTRINSIC
low complexity region 1453 1463 N/A INTRINSIC
Pfam:Collagen 1481 1543 8.3e-9 PFAM
COLFI 1574 1803 7.28e-127 SMART
Predicted Effect unknown
Transcript: ENSMUST00000123619
AA Change: D213G
SMART Domains Protein: ENSMUSP00000121027
Gene: ENSMUSG00000027966
AA Change: D213G

DomainStartEndE-ValueType
TSPN 37 228 1.83e-62 SMART
LamG 96 227 5.87e-11 SMART
low complexity region 259 296 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
Pfam:Collagen 446 503 6.9e-10 PFAM
low complexity region 521 538 N/A INTRINSIC
low complexity region 545 566 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha-1 subunit of type XI collagen, one of the low abundance fibrillar collagens that is essential for normal embryonic skeletal development and the cohesive properties of cartilage. The encoded protein, in association with the alpha-1 subunit of type II collagen, forms a heterotrimeric type XI procollagen that undergoes proteolytic processing. Mice lacking the encoded protein develop severe chondrodysplasia and die at birth. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik T C 19: 11,112,377 Y48C probably damaging Het
Acsm5 A T 7: 119,540,852 E492V probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atr T C 9: 95,907,323 F1511L probably damaging Het
BC005561 T C 5: 104,520,903 V1097A possibly damaging Het
Bdkrb2 G T 12: 105,592,157 R219L probably benign Het
Bhmt2 A T 13: 93,662,329 M328K probably benign Het
Btbd3 A G 2: 138,283,961 D286G probably benign Het
Bub1b T G 2: 118,606,686 L122V probably benign Het
Caml T C 13: 55,625,007 S155P probably damaging Het
Cfap43 T C 19: 47,835,711 K74E probably benign Het
Chst4 A G 8: 110,030,623 S120P probably damaging Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,348,082 probably null Het
Cxcl10 CAC CACTAAC 5: 92,348,086 probably null Het
Cyp26b1 A T 6: 84,576,671 I167N possibly damaging Het
Dchs1 A G 7: 105,757,714 S2195P probably benign Het
Ddx25 T A 9: 35,546,846 K326* probably null Het
Dip2c A T 13: 9,493,126 Y36F possibly damaging Het
Dock2 T C 11: 34,695,241 D538G probably damaging Het
E4f1 C T 17: 24,451,549 D55N probably damaging Het
Emp1 G T 6: 135,381,079 W141L probably damaging Het
Faim2 T A 15: 99,500,254 H271L probably benign Het
Fbxw9 T C 8: 85,066,078 M352T possibly damaging Het
Fcrls A T 3: 87,256,860 F321I probably benign Het
Frzb C T 2: 80,438,490 probably null Het
Gal3st1 G T 11: 3,998,931 K379N probably damaging Het
Gm5519 G A 19: 33,822,972 C22Y possibly damaging Het
Gpn3 T C 5: 122,378,520 F71L probably benign Het
H2-M9 A G 17: 36,641,653 V167A probably benign Het
Hars A G 18: 36,771,414 F182L possibly damaging Het
Hid1 T C 11: 115,352,717 T502A probably benign Het
Hipk3 G T 2: 104,471,676 T57K probably benign Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itpk1 G A 12: 102,606,119 L112F probably damaging Het
Klk9 T A 7: 43,794,393 D110E possibly damaging Het
Lemd3 A T 10: 120,949,341 M535K possibly damaging Het
Lipg A T 18: 74,945,823 S453T possibly damaging Het
Lrrc75a A T 11: 62,609,243 W150R probably damaging Het
Lyg1 T C 1: 37,947,224 E143G probably damaging Het
Map3k1 A G 13: 111,755,643 V1026A probably benign Het
Mgat3 T A 15: 80,211,637 F222I probably benign Het
Mindy4 A T 6: 55,255,616 N348I possibly damaging Het
Myo1b A C 1: 51,778,525 F532C probably damaging Het
Naif1 T A 2: 32,452,546 N36K probably damaging Het
Nkpd1 C A 7: 19,524,087 A597E possibly damaging Het
Npr2 A G 4: 43,647,260 D772G possibly damaging Het
Olfr2 T C 7: 107,001,584 N92S probably benign Het
Olfr658 T G 7: 104,644,997 D123A probably damaging Het
Pcolce2 A T 9: 95,694,740 M355L probably benign Het
Pdgfra A T 5: 75,173,447 I394F probably damaging Het
Pdzrn3 G A 6: 101,150,877 R943C probably damaging Het
Pml A G 9: 58,234,538 V337A probably damaging Het
Pnpla2 T A 7: 141,458,881 M321K probably benign Het
Poln A T 5: 34,103,940 N546K probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prss28 T A 17: 25,310,055 F123L possibly damaging Het
Psg18 A G 7: 18,346,079 V399A probably benign Het
Rab5a T C 17: 53,506,415 C212R probably damaging Het
Ranbp6 A T 19: 29,812,279 D224E probably benign Het
Recql4 T C 15: 76,704,039 I1104M possibly damaging Het
Rev1 A T 1: 38,088,500 N226K possibly damaging Het
Rhbdl3 T A 11: 80,353,592 V375E possibly damaging Het
Senp6 T A 9: 80,116,725 N423K possibly damaging Het
Sertad2 C G 11: 20,648,091 L96V probably benign Het
Slc33a1 T A 3: 63,953,894 T296S probably benign Het
Smurf2 G A 11: 106,852,618 P188S possibly damaging Het
Spta1 T A 1: 174,211,614 Y1174* probably null Het
Stra6l A T 4: 45,864,982 T103S probably benign Het
Swt1 C T 1: 151,405,521 A352T probably damaging Het
Tdgf1 C A 9: 110,943,167 V54L probably benign Het
Tigd2 T A 6: 59,211,376 N409K possibly damaging Het
Tlr6 G T 5: 64,955,250 H105N probably benign Het
Tmprss9 A C 10: 80,879,858 T15P possibly damaging Het
Tnik C T 3: 28,532,940 T120M probably damaging Het
Tnr T A 1: 159,858,210 I337N probably damaging Het
Top3a A G 11: 60,750,593 Y422H probably benign Het
Trim67 A G 8: 124,829,081 N768S probably damaging Het
Ttn A G 2: 76,705,966 V35016A probably benign Het
Utrn A C 10: 12,481,308 S312R probably damaging Het
Vdac2 A G 14: 21,837,811 Y62C probably damaging Het
Vwa5b2 A G 16: 20,604,984 T1216A probably benign Het
Wfdc16 T C 2: 164,638,483 K31E possibly damaging Het
Wtip C T 7: 34,125,496 C221Y probably damaging Het
Xrn1 A G 9: 95,991,011 D640G possibly damaging Het
Zdhhc5 T C 2: 84,692,341 R293G probably benign Het
Zfp536 T C 7: 37,569,634 D119G probably damaging Het
Zfp81 T C 17: 33,335,280 T187A probably benign Het
Zfp810 C T 9: 22,278,826 G262D possibly damaging Het
Zfp963 A C 8: 69,743,019 I203M possibly damaging Het
Zfpm2 T C 15: 41,101,679 M520T probably damaging Het
Zswim8 G A 14: 20,713,113 R360Q possibly damaging Het
Zwilch T A 9: 64,158,717 H254L possibly damaging Het
Other mutations in Col11a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Col11a1 APN 3 114066533 missense unknown
IGL00578:Col11a1 APN 3 114194106 missense possibly damaging 0.95
IGL00742:Col11a1 APN 3 114124315 missense unknown
IGL01014:Col11a1 APN 3 114123809 splice site probably benign
IGL01099:Col11a1 APN 3 114112041 nonsense probably null
IGL01129:Col11a1 APN 3 114185873 splice site probably benign
IGL01474:Col11a1 APN 3 114217134 utr 3 prime probably benign
IGL01884:Col11a1 APN 3 114066542 missense unknown
IGL02104:Col11a1 APN 3 114181397 critical splice donor site probably null
IGL02715:Col11a1 APN 3 114129409 missense probably benign 0.06
IGL02978:Col11a1 APN 3 114061562 missense unknown
IGL03203:Col11a1 APN 3 114212084 missense possibly damaging 0.91
IGL03240:Col11a1 APN 3 114217210 splice site probably null
IGL03357:Col11a1 APN 3 114194091 missense probably damaging 1.00
IGL03390:Col11a1 APN 3 114090253 missense unknown
gluon UTSW 3 114217170 utr 3 prime probably benign
uncovered UTSW 3 114112467 unclassified probably benign
R0110:Col11a1 UTSW 3 114105456 splice site probably benign
R0144:Col11a1 UTSW 3 114113594 missense unknown
R0432:Col11a1 UTSW 3 114205901 splice site probably benign
R0468:Col11a1 UTSW 3 114217058 utr 3 prime probably benign
R0510:Col11a1 UTSW 3 114105456 splice site probably benign
R0535:Col11a1 UTSW 3 114061535 missense unknown
R0608:Col11a1 UTSW 3 114218715 utr 3 prime probably benign
R0826:Col11a1 UTSW 3 114138765 missense unknown
R0827:Col11a1 UTSW 3 114138765 missense unknown
R0862:Col11a1 UTSW 3 114138765 missense unknown
R0863:Col11a1 UTSW 3 114138765 missense unknown
R0926:Col11a1 UTSW 3 114090180 missense unknown
R0980:Col11a1 UTSW 3 114138765 missense unknown
R0981:Col11a1 UTSW 3 114138765 missense unknown
R1004:Col11a1 UTSW 3 114095022 splice site probably benign
R1037:Col11a1 UTSW 3 114194152 missense probably damaging 1.00
R1316:Col11a1 UTSW 3 114138970 splice site probably null
R1324:Col11a1 UTSW 3 114030916 missense unknown
R1338:Col11a1 UTSW 3 114216995 utr 3 prime probably benign
R1513:Col11a1 UTSW 3 114097154 missense unknown
R1528:Col11a1 UTSW 3 114216995 utr 3 prime probably benign
R1567:Col11a1 UTSW 3 114138612 missense unknown
R1596:Col11a1 UTSW 3 114152613 utr 3 prime probably benign
R1605:Col11a1 UTSW 3 114131641 missense probably damaging 1.00
R1624:Col11a1 UTSW 3 114158155 missense probably damaging 0.97
R1626:Col11a1 UTSW 3 114131569 missense probably damaging 1.00
R1666:Col11a1 UTSW 3 114061535 missense unknown
R1806:Col11a1 UTSW 3 114158142 missense probably damaging 1.00
R2001:Col11a1 UTSW 3 114165293 splice site probably null
R2084:Col11a1 UTSW 3 114158142 missense probably damaging 1.00
R2085:Col11a1 UTSW 3 114158142 missense probably damaging 1.00
R3926:Col11a1 UTSW 3 114090124 splice site probably benign
R3950:Col11a1 UTSW 3 114121445 critical splice donor site probably null
R3970:Col11a1 UTSW 3 114097189 missense unknown
R4171:Col11a1 UTSW 3 114208214 missense probably damaging 0.99
R4175:Col11a1 UTSW 3 114208223 missense possibly damaging 0.83
R4176:Col11a1 UTSW 3 114208223 missense possibly damaging 0.83
R4413:Col11a1 UTSW 3 114108316 missense unknown
R4540:Col11a1 UTSW 3 114097166 missense unknown
R5210:Col11a1 UTSW 3 114153157 missense probably damaging 1.00
R5250:Col11a1 UTSW 3 114217170 utr 3 prime probably benign
R5335:Col11a1 UTSW 3 114095240 missense unknown
R5344:Col11a1 UTSW 3 114208362 critical splice donor site probably null
R5394:Col11a1 UTSW 3 114194184 splice site probably null
R5687:Col11a1 UTSW 3 114217103 utr 3 prime probably benign
R5708:Col11a1 UTSW 3 114097094 missense unknown
R5763:Col11a1 UTSW 3 114094596 intron probably benign
R5792:Col11a1 UTSW 3 114131593 missense probably damaging 1.00
R6259:Col11a1 UTSW 3 114138447 missense probably benign
R6679:Col11a1 UTSW 3 114152719 splice site probably null
R6738:Col11a1 UTSW 3 114112467 unclassified probably benign
R6747:Col11a1 UTSW 3 114212450 nonsense probably null
R6808:Col11a1 UTSW 3 114094944 missense possibly damaging 0.87
R6861:Col11a1 UTSW 3 114167492 missense probably damaging 1.00
R7201:Col11a1 UTSW 3 114090157 missense unknown
R7264:Col11a1 UTSW 3 114185599 missense unknown
R7393:Col11a1 UTSW 3 114097106 missense unknown
R7445:Col11a1 UTSW 3 114193929 missense unknown
R7479:Col11a1 UTSW 3 114102569 missense unknown
R7548:Col11a1 UTSW 3 114123760 missense unknown
X0018:Col11a1 UTSW 3 114112233 unclassified probably benign
Predicted Primers
Posted On2014-01-15