Incidental Mutation 'R9803:C1ql3'
ID 735296
Institutional Source Beutler Lab
Gene Symbol C1ql3
Ensembl Gene ENSMUSG00000049630
Gene Name C1q-like 3
Synonyms K100, 1110065A22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R9803 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 13003457-13011806 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13004389 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 215 (N215S)
Ref Sequence ENSEMBL: ENSMUSP00000056188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028063] [ENSMUST00000061545] [ENSMUST00000114796] [ENSMUST00000134794] [ENSMUST00000154269]
AlphaFold Q9ESN4
Predicted Effect probably benign
Transcript: ENSMUST00000028063
SMART Domains Protein: ENSMUSP00000028063
Gene: ENSMUSG00000026730

DomainStartEndE-ValueType
Pfam:PTE 15 260 1.8e-105 PFAM
Pfam:TatD_DNase 66 252 3.5e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000061545
AA Change: N215S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056188
Gene: ENSMUSG00000049630
AA Change: N215S

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 probably benign
Transcript: ENSMUST00000114796
SMART Domains Protein: ENSMUSP00000110444
Gene: ENSMUSG00000026730

DomainStartEndE-ValueType
Pfam:PTE 15 62 1.9e-13 PFAM
Pfam:PTE 52 253 4.6e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134794
SMART Domains Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730

DomainStartEndE-ValueType
Pfam:PTE 15 347 1e-153 PFAM
Pfam:TatD_DNase 67 300 1.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154269
SMART Domains Protein: ENSMUSP00000118645
Gene: ENSMUSG00000026730

DomainStartEndE-ValueType
Pfam:PTE 15 181 1e-66 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik A G 5: 113,703,903 S52P unknown Het
Ank2 A G 3: 126,959,077 M330T possibly damaging Het
Ankar C T 1: 72,659,181 V905I possibly damaging Het
Anln G T 9: 22,372,222 D438E probably damaging Het
Ccdc110 A G 8: 45,942,589 S506G probably benign Het
Ccdc87 A G 19: 4,841,147 T556A probably benign Het
Cma1 A T 14: 55,941,729 N236K probably benign Het
Csmd2 T C 4: 128,369,193 F724S Het
Cts8 T C 13: 61,253,322 K130R possibly damaging Het
Daam1 A T 12: 71,944,148 T179S unknown Het
Fancd2os T C 6: 113,597,977 T23A possibly damaging Het
Gbgt1 T A 2: 28,504,854 I168N probably damaging Het
Gckr G A 5: 31,300,024 G127D probably damaging Het
Gm11444 G A 11: 85,846,873 Q164* probably null Het
Gm28042 T A 2: 120,038,503 V526E possibly damaging Het
Gm8947 T C 1: 151,192,971 V185A possibly damaging Het
Hoxd13 C A 2: 74,668,903 H198Q possibly damaging Het
Hps6 T A 19: 46,005,508 L628* probably null Het
Igha G A 12: 113,259,139 H221Y Het
Ighm A G 12: 113,419,015 S453P Het
Inpp5f A C 7: 128,676,791 D435A possibly damaging Het
Lfng A G 5: 140,607,773 T120A probably damaging Het
Lrrc4 C T 6: 28,662,200 A172T probably benign Het
Lrrc56 A G 7: 141,207,607 T386A probably benign Het
Mapkbp1 A T 2: 120,010,775 H81L probably benign Het
Mfsd14b C A 13: 65,073,600 V293L probably benign Het
Mrto4 T A 4: 139,349,070 N70I probably damaging Het
Mxra8 C T 4: 155,839,825 probably benign Het
Myo1h A G 5: 114,345,936 E548G Het
Ncan C T 8: 70,108,101 D739N probably benign Het
Olfr315 T C 11: 58,778,769 V214A probably benign Het
Oxgr1 T C 14: 120,022,151 T215A possibly damaging Het
Pcdhgb7 T A 18: 37,752,035 V86E probably damaging Het
Pclo G A 5: 14,712,615 V416M Het
Phf3 G T 1: 30,830,791 T392K probably benign Het
Pkhd1 A T 1: 20,566,849 V379E probably damaging Het
Ppfia3 T C 7: 45,341,115 Y1080C probably benign Het
Ptprs C A 17: 56,422,217 G1254C probably damaging Het
Qsox1 A T 1: 155,782,670 D384E probably benign Het
Rergl A G 6: 139,500,763 F23L probably damaging Het
Shank1 G A 7: 44,312,918 S71N unknown Het
Sidt2 A G 9: 45,943,614 Y588H probably damaging Het
Tas2r139 T A 6: 42,141,132 I66K probably damaging Het
Tbc1d30 T A 10: 121,272,075 D474V probably damaging Het
Tenm4 G A 7: 96,553,478 G100D probably damaging Het
Tmem258 G A 19: 10,207,273 V75I probably benign Het
Tmem91 G T 7: 25,670,563 H95N probably damaging Het
Trps1 T C 15: 50,846,694 K87E possibly damaging Het
Tspan11 T A 6: 127,943,717 M209K probably benign Het
Tspan17 C A 13: 54,793,279 Q124K probably benign Het
Uts2b G A 16: 27,360,942 R105* probably null Het
Vmn2r110 T A 17: 20,583,468 T282S probably benign Het
Xdh T A 17: 73,922,460 M333L probably benign Het
Zbtb3 A G 19: 8,804,469 E482G probably damaging Het
Other mutations in C1ql3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1489:C1ql3 UTSW 2 13010642 missense possibly damaging 0.89
R2253:C1ql3 UTSW 2 13010319 missense possibly damaging 0.55
R5386:C1ql3 UTSW 2 13004358 missense probably damaging 1.00
R7343:C1ql3 UTSW 2 13010778 missense probably benign 0.00
R7425:C1ql3 UTSW 2 13010418 missense possibly damaging 0.90
R7480:C1ql3 UTSW 2 13010339 missense probably damaging 0.98
R7636:C1ql3 UTSW 2 13010810 missense probably benign 0.01
R7740:C1ql3 UTSW 2 13010672 missense possibly damaging 0.82
R8780:C1ql3 UTSW 2 13010756 missense probably benign 0.00
R8890:C1ql3 UTSW 2 13010373 missense
R9072:C1ql3 UTSW 2 13010387 missense probably damaging 1.00
R9073:C1ql3 UTSW 2 13010387 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTGAGATGCCCAGCAATG -3'
(R):5'- AACAGCAACATCAGTGTGCTAC -3'

Sequencing Primer
(F):5'- GATTCACTGACGTTAGCCATACG -3'
(R):5'- CTACATTGTATGCTATGGCTGCAAG -3'
Posted On 2022-11-14