Incidental Mutation 'R7490:Colq'
ID580705
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
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #R7490 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location31523082-31591343 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 31545086 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 166 (P166S)
Ref Sequence ENSEMBL: ENSMUSP00000107658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112027] [ENSMUST00000150054]
Predicted Effect possibly damaging
Transcript: ENSMUST00000112027
AA Change: P166S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: P166S

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 probably damaging
Transcript: ENSMUST00000150054
AA Change: P156S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: P156S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,163,230 D132G possibly damaging Het
Abca5 T C 11: 110,277,611 E1424G possibly damaging Het
Adamts4 C T 1: 171,256,600 Q549* probably null Het
Adcy4 A G 14: 55,770,433 I893T possibly damaging Het
Ago1 A T 4: 126,439,505 *858R probably null Het
Ank2 T A 3: 126,958,889 I393L probably damaging Het
Ankrd44 T C 1: 54,648,300 T987A probably benign Het
Ap2a1 G T 7: 44,902,789 N790K probably benign Het
Aqr A G 2: 114,158,868 probably null Het
Arel1 G T 12: 84,941,911 F21L probably damaging Het
Atp1a3 T C 7: 24,987,470 D743G probably damaging Het
Atp9a A T 2: 168,675,352 F354I probably benign Het
Bag6 A G 17: 35,140,842 H259R unknown Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,888,136 probably benign Het
BC028528 GTCACTGGTTCTGTG GTCACTGGTTCTGTGTTCACTGGTTCTGTG 3: 95,888,166 probably benign Het
BC028528 TGGTT TGGTTCTGTGGTCACGGGTT 3: 95,888,186 probably benign Het
Bckdk T A 7: 127,904,973 S15T unknown Het
C4b G T 17: 34,731,080 Y1405* probably null Het
Camk4 G A 18: 32,939,545 probably null Het
Car11 T A 7: 45,700,318 W16R probably benign Het
Ccdc80 A C 16: 45,096,400 E506D probably damaging Het
Chmp6 C T 11: 119,915,443 Q32* probably null Het
Ctxn3 T C 18: 57,477,285 M58T probably damaging Het
Cxcl3 A T 5: 90,786,657 I93L unknown Het
Dnaaf2 T C 12: 69,197,606 Y227C probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,585,549 probably benign Het
Dnmt3a G A 12: 3,904,204 G792D probably damaging Het
Dsg4 T A 18: 20,451,936 probably null Het
Ecm2 C T 13: 49,530,342 Q599* probably null Het
Fbxl13 T A 5: 21,523,060 R550* probably null Het
Gm4302 A T 10: 100,341,583 Q243L unknown Het
Gm7168 A T 17: 13,949,013 Y214F probably benign Het
Gtf3c1 C T 7: 125,647,491 D1549N probably damaging Het
Gtf3c5 A T 2: 28,571,141 D320E probably damaging Het
Hivep1 T A 13: 42,157,650 V1122D probably damaging Het
Ibtk T C 9: 85,718,934 probably null Het
Irs1 T A 1: 82,287,264 Q1077L probably damaging Het
Ivd A T 2: 118,876,892 M296L possibly damaging Het
Katnal1 T C 5: 148,891,682 D318G probably null Het
L3mbtl3 C T 10: 26,339,231 V194I unknown Het
Malt1 C A 18: 65,448,211 Q237K probably benign Het
March11 C T 15: 26,311,101 A221V possibly damaging Het
Mgea5 G A 19: 45,767,447 R586* probably null Het
Nfe2l3 A G 6: 51,457,544 I361M possibly damaging Het
Nrg1 G A 8: 31,818,654 R493C probably damaging Het
Olfr1019 A T 2: 85,840,963 V276E probably damaging Het
Olfr1212 A C 2: 88,959,048 Y194S probably benign Het
Olfr453 T C 6: 42,744,805 I256T probably damaging Het
Olfr577 G A 7: 102,973,810 P61S probably damaging Het
Olfr828 A T 9: 18,815,933 Y120* probably null Het
Olfr980 T A 9: 40,006,424 H175L probably damaging Het
Orai3 C T 7: 127,773,627 A100V possibly damaging Het
Oxsm T A 14: 16,241,066 M328L probably benign Het
Pan2 T C 10: 128,308,440 V186A probably benign Het
Pkd1l1 T A 11: 8,916,265 D980V Het
Ppp1r16b T C 2: 158,761,468 Y438H probably damaging Het
Ppp4c A T 7: 126,787,332 H164Q probably damaging Het
Prl8a2 C A 13: 27,352,770 T125K possibly damaging Het
Rasa2 T C 9: 96,566,122 N494S possibly damaging Het
Rpl18a T C 8: 70,895,506 D147G probably benign Het
Scg3 T C 9: 75,669,277 D272G possibly damaging Het
Serpinb6c T A 13: 33,893,835 D184V probably benign Het
Simc1 T G 13: 54,524,349 L170R possibly damaging Het
Slx4 T C 16: 3,980,131 E1463G possibly damaging Het
Stk31 T A 6: 49,439,232 probably null Het
Tas1r3 A G 4: 155,862,023 I375T probably damaging Het
Tbc1d24 T C 17: 24,182,520 D405G probably damaging Het
Tcerg1l G A 7: 138,259,828 P391S probably damaging Het
Tiam1 T C 16: 89,898,195 S125G probably benign Het
Trim16 C A 11: 62,834,123 H246N probably damaging Het
Tti1 T A 2: 157,995,472 N896I probably damaging Het
Ubash3a A G 17: 31,232,312 N395S probably damaging Het
Uggt1 T C 1: 36,164,508 I1014V probably benign Het
Vmn1r30 T A 6: 58,435,229 Q206L possibly damaging Het
Washc5 T A 15: 59,337,204 N1057I probably benign Het
Xpo4 GGTATTAGCGGAGT GGT 14: 57,602,621 probably null Het
Zcchc14 A T 8: 121,605,017 S536T unknown 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
R0288:Colq UTSW 14 31543992 missense possibly damaging 0.89
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
R7651:Colq UTSW 14 31528335 missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TAATCCGGATGCCGTTACCC -3'
(R):5'- ATCTCAAGGACCACAGTGACAG -3'

Sequencing Primer
(F):5'- TTACCCCCAGTAGCGGAAGAG -3'
(R):5'- CAGGTGGAAAGTAGAACCCTG -3'
Posted On2019-10-17