Incidental Mutation 'R8780:C1ql3'
ID 670190
Institutional Source Beutler Lab
Gene Symbol C1ql3
Ensembl Gene ENSMUSG00000049630
Gene Name C1q-like 3
Synonyms 1110065A22Rik, K100
MMRRC Submission 068604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R8780 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 13008268-13016617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13015567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 31 (V31A)
Ref Sequence ENSEMBL: ENSMUSP00000056188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061545]
AlphaFold Q9ESN4
Predicted Effect probably benign
Transcript: ENSMUST00000061545
AA Change: V31A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056188
Gene: ENSMUSG00000049630
AA Change: V31A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Collagen 59 116 2.6e-11 PFAM
C1Q 120 255 2.92e-35 SMART
Meta Mutation Damage Score 0.2300 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (38/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A G 11: 105,888,364 (GRCm39) D358G probably damaging Het
Actmap T C 7: 26,900,503 (GRCm39) S161P probably benign Het
Adgrd1 G A 5: 129,174,138 (GRCm39) probably benign Het
Aff4 C A 11: 53,271,444 (GRCm39) T327K probably damaging Het
Ajap1 A G 4: 153,470,961 (GRCm39) V282A probably damaging Het
Arrb1 A G 7: 99,240,568 (GRCm39) D194G probably benign Het
Atp1a3 T C 7: 24,680,979 (GRCm39) N836S probably damaging Het
Cc2d2a A G 5: 43,896,692 (GRCm39) T1530A probably damaging Het
Cenpc1 A T 5: 86,164,209 (GRCm39) I804K probably damaging Het
Chmp2b G A 16: 65,359,422 (GRCm39) probably benign Het
Chrm5 T A 2: 112,310,453 (GRCm39) E221V possibly damaging Het
Col22a1 A T 15: 71,878,796 (GRCm39) H120Q probably damaging Het
Esp16 C T 17: 39,850,729 (GRCm39) A36V probably damaging Het
Fn1 A T 1: 71,682,308 (GRCm39) S283T probably benign Het
Hipk3 A G 2: 104,264,179 (GRCm39) L773S probably damaging Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Morn3 A G 5: 123,175,825 (GRCm39) W188R probably damaging Het
Msantd2 T G 9: 37,434,798 (GRCm39) L547R probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Obi1 A T 14: 104,717,082 (GRCm39) C430* probably null Het
Or4a15 A T 2: 89,193,652 (GRCm39) N40K probably damaging Het
Or7e166 T C 9: 19,624,653 (GRCm39) F177L possibly damaging Het
Pcdhga5 G A 18: 37,828,826 (GRCm39) V425I probably benign Het
Pdxk T A 10: 78,283,786 (GRCm39) Y136F probably benign Het
Prr14 T C 7: 127,075,410 (GRCm39) F503L probably benign Het
Prss54 T C 8: 96,286,057 (GRCm39) I339V probably benign Het
Repin1 T C 6: 48,574,073 (GRCm39) I334T probably damaging Het
Runx3 A G 4: 134,882,720 (GRCm39) D152G probably damaging Het
She T A 3: 89,739,256 (GRCm39) I149N probably damaging Het
Stra6 A G 9: 58,042,254 (GRCm39) probably benign Het
Svil A G 18: 5,063,449 (GRCm39) T907A probably benign Het
Syvn1 A G 19: 6,100,393 (GRCm39) D288G probably damaging Het
Tacc1 T C 8: 25,672,077 (GRCm39) S384G probably benign Het
Tmc8 ACTTCCT ACT 11: 117,681,558 (GRCm39) probably null Het
Trhr T C 15: 44,061,149 (GRCm39) I223T possibly damaging Het
Vmn2r45 A G 7: 8,484,371 (GRCm39) I478T possibly damaging Het
Zbtb3 G T 19: 8,781,173 (GRCm39) R262M possibly damaging Het
Zfp516 T C 18: 83,006,080 (GRCm39) S995P probably benign Het
Zfp985 A G 4: 147,668,412 (GRCm39) I427V possibly damaging Het
Other mutations in C1ql3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1489:C1ql3 UTSW 2 13,015,453 (GRCm39) missense possibly damaging 0.89
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
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'- TAGGTGGCTGCACTGATAGC -3'
(R):5'- GCCCAACCTTCAAAATTTTGTC -3'

Sequencing Primer
(F):5'- TGCACTGATAGCCCCGG -3'
(R):5'- CCTTCAAAATTTTGTCCAAAAGCAG -3'
Posted On 2021-04-30