Incidental Mutation 'R0288:Colq'
ID24747
Institutional Source Beutler Lab
Gene Symbol Colq
Ensembl Gene ENSMUSG00000057606
Gene Namecollagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Synonyms
MMRRC Submission 038507-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R0288 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location31523082-31591343 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31543992 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 188 (E188G)
Ref Sequence ENSEMBL: ENSMUSP00000121065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112027] [ENSMUST00000150054]
Predicted Effect possibly damaging
Transcript: ENSMUST00000112027
AA Change: E198G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: E198G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 53 67 N/A INTRINSIC
Pfam:Collagen 91 155 8.8e-11 PFAM
low complexity region 179 191 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
Pfam:Collagen 215 293 3.7e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150054
AA Change: E188G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: E188G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Pfam:Collagen 81 143 1.5e-11 PFAM
low complexity region 169 181 N/A INTRINSIC
low complexity region 184 196 N/A INTRINSIC
Pfam:Collagen 202 283 6.4e-9 PFAM
Meta Mutation Damage Score 0.0808 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.7%
Validation Efficiency 98% (62/63)
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit tremors, reduced body weight, lack of asymmetric forms of acetylcholinesterase and butyrylcholinesterase, and lethality prior to maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,039,940 E413G possibly damaging Het
Amigo2 G T 15: 97,245,679 N287K probably damaging Het
Ankle2 T A 5: 110,236,390 I260K probably damaging Het
Apob C T 12: 7,990,779 R635* probably null Het
Camkv A G 9: 107,946,356 Y153C probably damaging Het
Capn9 A G 8: 124,600,491 probably benign Het
Ces2c A G 8: 104,849,744 I130V probably benign Het
Cfap44 T A 16: 44,415,894 probably benign Het
Cfhr3 A G 1: 139,597,687 noncoding transcript Het
Chmp1a G T 8: 123,208,006 D70E probably damaging Het
Coil G A 11: 88,981,868 G352R probably damaging Het
Cyfip2 A G 11: 46,253,972 F685S possibly damaging Het
Cyp4f39 A G 17: 32,492,436 N519S probably benign Het
Dennd1c A T 17: 57,076,870 probably null Het
Dnah9 A T 11: 66,025,134 probably null Het
Dnmbp T C 19: 43,902,459 T290A possibly damaging Het
Dsc2 T C 18: 20,033,120 D818G probably damaging Het
Gnptab G A 10: 88,433,105 V557I probably benign Het
Hdac4 A T 1: 91,971,006 H675Q probably damaging Het
Kcnk3 T C 5: 30,588,420 M35T probably benign Het
Kif1b A T 4: 149,199,338 I1290N probably damaging Het
Klhl14 G A 18: 21,565,563 R398W probably damaging Het
Marveld1 T C 19: 42,147,826 F60L probably damaging Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,408,291 probably null Het
Ndst3 A T 3: 123,672,194 V43D probably benign Het
Nhsl1 A G 10: 18,524,046 D306G probably damaging Het
Nlrp2 A G 7: 5,328,545 V284A probably benign Het
Pcdhb15 T C 18: 37,475,398 V561A probably damaging Het
Pdcl2 T C 5: 76,312,497 I177V possibly damaging Het
Pkd1l3 G A 8: 109,646,499 probably null Het
Pla2g6 A C 15: 79,286,906 probably benign Het
Plekhj1 A T 10: 80,796,610 I122N probably damaging Het
Pmel T C 10: 128,714,306 I70T probably benign Het
Psip1 T C 4: 83,464,959 D273G probably damaging Het
Rictor A G 15: 6,786,540 I1098V probably benign Het
Rif1 T C 2: 52,110,013 S1160P probably damaging Het
Rsbn1l T C 5: 20,920,040 I255V probably damaging Het
Slc15a5 A G 6: 138,017,916 probably benign Het
Slc29a1 G A 17: 45,589,804 R111W probably damaging Het
Slc36a1 G A 11: 55,219,087 A74T probably damaging Het
Slc5a7 A T 17: 54,293,018 Y122* probably null Het
Slc6a3 G T 13: 73,560,928 G324W probably damaging Het
Sltm T C 9: 70,579,351 S433P probably damaging Het
Spta1 T C 1: 174,243,179 S2190P probably damaging Het
Sry A T Y: 2,662,818 F281I unknown Het
Stk32a T A 18: 43,304,995 probably null Het
Sytl2 T C 7: 90,403,020 probably benign Het
Tbl3 G A 17: 24,701,807 H612Y probably damaging Het
Tmem144 G A 3: 79,839,273 probably benign Het
Top2a A G 11: 99,016,423 probably benign Het
Usp9y A T Y: 1,333,606 probably benign Het
Vldlr G A 19: 27,240,651 probably benign Het
Vmn1r28 G A 6: 58,265,717 A182T probably benign Het
Vmn2r28 A G 7: 5,488,021 L409P probably damaging Het
Vps13c T C 9: 67,927,366 V1659A probably damaging Het
Wdr17 C T 8: 54,693,096 A90T possibly damaging Het
Zfp280d A T 9: 72,331,339 K646* probably null Het
Zfp36 A G 7: 28,378,241 S81P probably benign Het
Zfp618 A T 4: 63,132,934 T651S possibly damaging Het
Other mutations in Colq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Colq APN 14 31535588 critical splice donor site probably null
IGL00832:Colq APN 14 31528346 nonsense probably null
IGL01115:Colq APN 14 31545128 splice site probably benign
IGL01879:Colq APN 14 31543995 missense probably damaging 1.00
IGL02009:Colq APN 14 31535642 missense possibly damaging 0.86
IGL02935:Colq APN 14 31535634 missense probably damaging 0.97
IGL03168:Colq APN 14 31524420 missense probably damaging 1.00
R0765:Colq UTSW 14 31526037 missense possibly damaging 0.94
R1756:Colq UTSW 14 31547452 missense probably damaging 0.97
R3749:Colq UTSW 14 31549453 unclassified probably benign
R4114:Colq UTSW 14 31557867 start codon destroyed probably benign
R4415:Colq UTSW 14 31535688 missense probably damaging 1.00
R4604:Colq UTSW 14 31545103 missense possibly damaging 0.77
R4628:Colq UTSW 14 31544022 missense probably damaging 1.00
R4749:Colq UTSW 14 31529515 missense possibly damaging 0.91
R4971:Colq UTSW 14 31545077 missense probably damaging 1.00
R5071:Colq UTSW 14 31528832 missense possibly damaging 0.53
R5096:Colq UTSW 14 31552954 missense possibly damaging 0.80
R5181:Colq UTSW 14 31557842 missense probably benign
R5251:Colq UTSW 14 31539819 critical splice donor site probably null
R7059:Colq UTSW 14 31526034 missense probably damaging 0.98
R7075:Colq UTSW 14 31552909 missense probably damaging 1.00
R7355:Colq UTSW 14 31545109 missense probably damaging 1.00
R7490:Colq UTSW 14 31545086 missense possibly damaging 0.93
R7651:Colq UTSW 14 31528335 missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TTCTGCCCCAGCATTCCAGGAAAC -3'
(R):5'- AGCATTTCTTTACTGGGCAAGCCAC -3'

Sequencing Primer
(F):5'- CCCAGGGAAACCCTGTGAAG -3'
(R):5'- TTACTGGGCAAGCCACCTAATATAAG -3'
Posted On2013-04-16