Incidental Mutation 'R1489:C1ql3'
ID 163579
Institutional Source Beutler Lab
Gene Symbol C1ql3
Ensembl Gene ENSMUSG00000049630
Gene Name C1q-like 3
Synonyms 1110065A22Rik, K100
MMRRC Submission 039541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1489 (G1)
Quality Score 199
Status Validated
Chromosome 2
Chromosomal Location 13008268-13016617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 13015453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 69 (P69Q)
Ref Sequence ENSEMBL: ENSMUSP00000056188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061545]
AlphaFold Q9ESN4
Predicted Effect possibly damaging
Transcript: ENSMUST00000061545
AA Change: P69Q

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056188
Gene: ENSMUSG00000049630
AA Change: P69Q

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Collagen 59 116 2.6e-11 PFAM
C1Q 120 255 2.92e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193430
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (52/54)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired coordination, hyperactivity, decreased anxiety-related response, impaired contextual conditioning behavior, impaired CPP, impaired conditioned taste aversion and reduced density of excitatory synapses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,106,295 (GRCm39) S143P possibly damaging Het
4930522H14Rik T C 4: 109,362,654 (GRCm39) K218E possibly damaging Het
Abcb1a T A 5: 8,736,300 (GRCm39) probably null Het
Adam39 A G 8: 41,278,031 (GRCm39) T141A possibly damaging Het
Adam6b T A 12: 113,455,071 (GRCm39) S629R probably benign Het
Ap3b2 C A 7: 81,113,438 (GRCm39) E924* probably null Het
Armc3 A T 2: 19,314,858 (GRCm39) Y856F probably benign Het
Asap1 A G 15: 64,044,579 (GRCm39) L142P probably damaging Het
Atg9a T A 1: 75,162,734 (GRCm39) D427V probably damaging Het
Atl2 G A 17: 80,160,135 (GRCm39) A17V probably benign Het
Atxn2l A T 7: 126,095,639 (GRCm39) S379T probably damaging Het
Cap2 A T 13: 46,763,111 (GRCm39) I114F probably damaging Het
Ccdc168 A G 1: 44,096,950 (GRCm39) F1383L probably benign Het
Ccdc168 T C 1: 44,100,667 (GRCm39) I144V probably benign Het
Cox16 T C 12: 81,521,389 (GRCm39) N135S probably null Het
Dnajc13 A T 9: 104,108,234 (GRCm39) H180Q possibly damaging Het
Dpy19l3 A T 7: 35,424,835 (GRCm39) Y73* probably null Het
Duox2 T A 2: 122,123,877 (GRCm39) M436L probably benign Het
Exoc6 T A 19: 37,585,568 (GRCm39) M481K possibly damaging Het
Fbxw2 GCCCCC GCCCCCCCC 2: 34,702,829 (GRCm39) probably benign Het
Fmn1 T A 2: 113,195,557 (GRCm39) V419E unknown Het
Fndc4 T C 5: 31,450,795 (GRCm39) *232W probably null Het
Foxc1 C T 13: 31,992,595 (GRCm39) R469* probably null Het
Fsip2 A G 2: 82,810,155 (GRCm39) H2158R probably benign Het
Ghdc C T 11: 100,659,083 (GRCm39) G373D probably benign Het
Gm10330 A T 12: 23,830,032 (GRCm39) S50T probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Lonrf1 A G 8: 36,690,108 (GRCm39) V650A probably damaging Het
Map1a T C 2: 121,130,918 (GRCm39) V578A possibly damaging Het
Mbd3 C G 10: 80,229,740 (GRCm39) D190H probably damaging Het
Mcpt9 T C 14: 56,264,976 (GRCm39) K175R probably benign Het
Mia3 A G 1: 183,120,121 (GRCm39) S85P probably benign Het
Myrip T C 9: 120,261,595 (GRCm39) F403L probably damaging Het
Nox4 A G 7: 86,954,097 (GRCm39) Y134C probably damaging Het
Numb A G 12: 83,842,217 (GRCm39) L642P probably damaging Het
Pappa A T 4: 65,099,185 (GRCm39) Y568F possibly damaging Het
Pdzrn4 T C 15: 92,575,593 (GRCm39) L333P probably benign Het
Prl A T 13: 27,241,619 (GRCm39) S3C probably damaging Het
Ptprc T C 1: 138,047,824 (GRCm39) T60A possibly damaging Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Slc7a7 C T 14: 54,646,103 (GRCm39) R120H probably damaging Het
Smpd1 T C 7: 105,205,761 (GRCm39) probably null Het
Spta1 A G 1: 174,058,891 (GRCm39) E1942G probably damaging Het
Tmem38a A G 8: 73,333,479 (GRCm39) Y66C probably damaging Het
Tnnt1 A T 7: 4,510,524 (GRCm39) Y232* probably null Het
Tpte T C 8: 22,839,405 (GRCm39) probably null Het
Virma T C 4: 11,521,164 (GRCm39) V907A probably damaging Het
Vmn1r174 C T 7: 23,453,981 (GRCm39) Q216* probably null Het
Zswim3 T C 2: 164,661,901 (GRCm39) V127A probably benign Het
Other mutations in C1ql3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2253:C1ql3 UTSW 2 13,015,130 (GRCm39) missense possibly damaging 0.55
R5386:C1ql3 UTSW 2 13,009,169 (GRCm39) missense probably damaging 1.00
R7343:C1ql3 UTSW 2 13,015,589 (GRCm39) missense probably benign 0.00
R7425:C1ql3 UTSW 2 13,015,229 (GRCm39) missense possibly damaging 0.90
R7480:C1ql3 UTSW 2 13,015,150 (GRCm39) missense probably damaging 0.98
R7636:C1ql3 UTSW 2 13,015,621 (GRCm39) missense probably benign 0.01
R7740:C1ql3 UTSW 2 13,015,483 (GRCm39) missense possibly damaging 0.82
R8780:C1ql3 UTSW 2 13,015,567 (GRCm39) missense probably benign 0.00
R8890:C1ql3 UTSW 2 13,015,184 (GRCm39) missense
R9072:C1ql3 UTSW 2 13,015,198 (GRCm39) missense probably damaging 1.00
R9073:C1ql3 UTSW 2 13,015,198 (GRCm39) missense probably damaging 1.00
R9803:C1ql3 UTSW 2 13,009,200 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACCACGTCGTCGAACTTGAGCAC -3'
(R):5'- TGTTTTCGGCTCTGAAGAGGTCCC -3'

Sequencing Primer
(F):5'- TCGAACTTGAGCACCTCGTAG -3'
(R):5'- CAGACAAGAGGATCGGCCC -3'
Posted On 2014-03-28