Incidental Mutation 'R9119:C1ql1'
ID 692694
Institutional Source Beutler Lab
Gene Symbol C1ql1
Ensembl Gene ENSMUSG00000045532
Gene Name complement component 1, q subcomponent-like 1
Synonyms C1qrf
MMRRC Submission 068922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R9119 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102830090-102837514 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 102836879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 137 (K137*)
Ref Sequence ENSEMBL: ENSMUSP00000050469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057849]
AlphaFold O88992
PDB Structure Crystal structure of mouse C1QL1 globular domain [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000057849
AA Change: K137*
SMART Domains Protein: ENSMUSP00000050469
Gene: ENSMUSG00000045532
AA Change: K137*

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Collagen 65 122 3.5e-10 PFAM
C1Q 123 258 4.67e-34 SMART
Meta Mutation Damage Score 0.9702 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (42/43)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit impaired motor learning with alterned climbing fiber electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Aass A T 6: 23,094,000 (GRCm39) M517K probably benign Het
Abcc4 A G 14: 118,868,442 (GRCm39) V245A probably benign Het
Adgrv1 A G 13: 81,658,995 (GRCm39) V2783A probably damaging Het
Anxa3 T A 5: 96,976,557 (GRCm39) I181N Het
Ap4m1 T A 5: 138,174,303 (GRCm39) probably benign Het
Camkmt T A 17: 85,403,988 (GRCm39) L70Q probably damaging Het
Ceacam18 T C 7: 43,288,909 (GRCm39) L220P probably benign Het
Celsr2 C T 3: 108,309,288 (GRCm39) A1656T possibly damaging Het
Dnah6 T C 6: 73,037,186 (GRCm39) N3352S possibly damaging Het
Fbxo40 C A 16: 36,786,457 (GRCm39) R704L probably damaging Het
Fcho1 C T 8: 72,164,712 (GRCm39) G523E possibly damaging Het
Gas2l3 T C 10: 89,249,319 (GRCm39) T600A possibly damaging Het
Ggh T A 4: 20,057,955 (GRCm39) M172K probably damaging Het
Gpr137 G A 19: 6,915,811 (GRCm39) T373I probably benign Het
Kpna2rt T C 17: 90,217,621 (GRCm39) K42E probably damaging Het
Mtnr1a G A 8: 45,541,003 (GRCm39) M321I probably benign Het
Nebl T G 2: 17,405,370 (GRCm39) N383T probably damaging Het
Nob1 A G 8: 108,142,776 (GRCm39) S302P probably damaging Het
Ofcc1 A T 13: 40,334,016 (GRCm39) H358Q probably benign Het
Or6b3 G T 1: 92,438,904 (GRCm39) T282K probably damaging Het
Pkd1l1 G A 11: 8,829,107 (GRCm39) T1495I Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb4 G A 2: 135,809,872 (GRCm39) E609K probably damaging Het
Plxnd1 A T 6: 115,932,832 (GRCm39) probably benign Het
Prdm2 G A 4: 142,858,449 (GRCm39) Q1614* probably null Het
Psg21 T G 7: 18,381,409 (GRCm39) K378T probably benign Het
Ptprh T A 7: 4,555,712 (GRCm39) N749I probably benign Het
Ric8b T G 10: 84,783,334 (GRCm39) V64G possibly damaging Het
Sbf2 T C 7: 109,911,292 (GRCm39) T1793A possibly damaging Het
Scgb1c1 A G 7: 140,426,135 (GRCm39) H77R probably null Het
Sfswap C A 5: 129,591,829 (GRCm39) T282N probably benign Het
Sorcs3 A T 19: 48,642,433 (GRCm39) Y362F possibly damaging Het
Spata31h1 T C 10: 82,131,553 (GRCm39) T486A probably benign Het
Tpm4 A G 8: 72,892,525 (GRCm39) N76D probably benign Het
Tpr T A 1: 150,279,753 (GRCm39) L294Q probably damaging Het
Ttc3 C T 16: 94,192,950 (GRCm39) T237I probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ugt2a2 A G 5: 87,610,834 (GRCm39) V334A probably damaging Het
Usp38 A T 8: 81,711,228 (GRCm39) F936I probably damaging Het
Utp14b A G 1: 78,643,025 (GRCm39) K308E probably damaging Het
Vmn2r19 C T 6: 123,292,527 (GRCm39) P190S possibly damaging Het
Zbbx T C 3: 74,985,897 (GRCm39) E385G probably damaging Het
Other mutations in C1ql1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6275:C1ql1 UTSW 11 102,830,575 (GRCm39) missense probably damaging 0.98
R7574:C1ql1 UTSW 11 102,836,812 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAATACGCATTCTCCTGGG -3'
(R):5'- ACGGCCACTATGAGATGCTG -3'

Sequencing Primer
(F):5'- ACCTGGCCGTTCTTGCAGAG -3'
(R):5'- CACTATGAGATGCTGGGCAC -3'
Posted On 2021-12-30