Incidental Mutation 'R7988:Colq'
ID651617
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: 0.093) question?
Stock #R7988 (G1)
Quality Score225.009
Status Validated
Chromosome14
Chromosomal Location31523082-31591343 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 31553837 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 41 (D41V)
Ref Sequence ENSEMBL: ENSMUSP00000107658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112027] [ENSMUST00000124014] [ENSMUST00000150054] [ENSMUST00000167175]
Predicted Effect probably damaging
Transcript: ENSMUST00000112027
AA Change: D41V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: D41V

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 benign
Transcript: ENSMUST00000124014
Predicted Effect possibly damaging
Transcript: ENSMUST00000150054
AA Change: D31V

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: D31V

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
Predicted Effect probably benign
Transcript: ENSMUST00000167175
SMART Domains Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022

DomainStartEndE-ValueType
Pfam:TPP_enzyme_N 17 139 3.6e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik C T 6: 72,347,652 T56M probably damaging Het
2010111I01Rik A G 13: 63,061,140 D357G probably benign Het
4932415D10Rik T C 10: 82,296,100 I359V probably benign Het
Adamtsl5 C T 10: 80,345,538 S36N probably benign Het
Adgrf5 A T 17: 43,439,813 probably benign Het
Ago1 A G 4: 126,460,417 F200S probably damaging Het
Akr1cl T C 1: 65,024,706 D108G possibly damaging Het
Arhgef3 A T 14: 27,401,786 D468V probably benign Het
Aspn T C 13: 49,551,877 C72R possibly damaging Het
Baz2b T C 2: 59,962,141 T548A possibly damaging Het
Birc6 G A 17: 74,599,373 probably null Het
Btnl2 A T 17: 34,358,275 T135S possibly damaging Het
Ccnl1 T A 3: 65,957,861 I90F possibly damaging Het
Ccnt1 T C 15: 98,565,143 probably null Het
Cemip C A 7: 84,003,408 probably benign Het
Cfap45 A G 1: 172,529,934 D85G probably damaging Het
Cfap54 T A 10: 92,902,079 D2319V unknown Het
Cma1 T C 14: 55,944,532 M14V possibly damaging Het
Cmtm1 T C 8: 104,310,142 probably benign Het
Col27a1 A G 4: 63,331,322 H1738R unknown Het
Cubn T C 2: 13,332,355 T2437A probably benign Het
Dnah14 A G 1: 181,783,574 D3755G probably damaging Het
Eprs A G 1: 185,418,348 Y1349C probably damaging Het
Eps8 C T 6: 137,528,571 R53Q possibly damaging Het
Fam196a T G 7: 134,917,698 K368Q probably damaging Het
Fbf1 T C 11: 116,152,768 D405G probably benign Het
Fen1 C T 19: 10,200,310 E257K possibly damaging Het
Gstm7 A T 3: 107,926,955 M198K possibly damaging Het
Hook3 A T 8: 26,073,647 S190T probably benign Het
Htra4 A C 8: 25,030,510 probably null Het
Ighv1-15 T C 12: 114,657,496 I70V probably benign Het
Ikzf4 T A 10: 128,634,455 N452Y probably damaging Het
Iqcf5 T A 9: 106,515,821 N92K possibly damaging Het
Itk A G 11: 46,355,834 Y186H probably damaging Het
Klhdc10 T C 6: 30,446,691 S282P probably benign Het
Klhl18 T A 9: 110,476,509 E29V possibly damaging Het
Ky T C 9: 102,525,415 S140P probably damaging Het
Lmntd2 T C 7: 141,213,637 E112G unknown Het
Lrrc36 C A 8: 105,452,086 D304E possibly damaging Het
Macf1 A T 4: 123,506,480 F674Y probably damaging Het
Notch1 C T 2: 26,471,001 D1111N probably benign Het
Osbpl8 T G 10: 111,272,080 N312K possibly damaging Het
Otogl C T 10: 107,895,776 C168Y probably damaging Het
Phldb2 T G 16: 45,825,571 T171P probably benign Het
Ppef2 A T 5: 92,238,982 F365L probably benign Het
Repin1 G T 6: 48,597,345 E403* probably null Het
Ryr1 G A 7: 29,096,171 T1105I probably benign Het
Sclt1 T A 3: 41,663,454 *29L probably null Het
Scn11a T C 9: 119,765,437 K1297E probably damaging Het
Serpinb9c T A 13: 33,150,279 Y288F probably benign Het
Setd1a T A 7: 127,786,194 M691K probably benign Het
Sftpc T C 14: 70,522,619 E66G probably damaging Het
Thnsl2 T C 6: 71,141,319 T42A probably benign Het
Tram1 T C 1: 13,569,975 D285G probably benign Het
Ttn A T 2: 76,736,240 I28103K probably damaging Het
Ttn G A 2: 76,845,030 P11137L unknown Het
Ttn C A 2: 76,896,759 V5821F unknown Het
Usp38 T A 8: 81,014,316 M41L probably benign Het
Zcwpw1 T G 5: 137,817,491 Y419D possibly damaging Het
Zfp407 G A 18: 84,559,400 A1196V possibly damaging Het
Zfp446 T A 7: 12,979,043 S103T 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
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
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'- TTAGAGCTGCCCCTCTTCAATG -3'
(R):5'- CCATTTCCCTTCAGCAGAGG -3'

Sequencing Primer
(F):5'- CCTCTTCAATGGGATCCTGAGG -3'
(R):5'- TTTCCCTTCAGCAGAGGCAAGAG -3'
Posted On2020-09-15