Incidental Mutation 'R9413:C1qtnf4'
ID 711885
Institutional Source Beutler Lab
Gene Symbol C1qtnf4
Ensembl Gene ENSMUSG00000040794
Gene Name C1q and tumor necrosis factor related protein 4
Synonyms 9430004J15Rik, CTRP4, 0710001E10Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9413 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90716204-90720869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90720648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 307 (F307S)
Ref Sequence ENSEMBL: ENSMUSP00000107091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005647] [ENSMUST00000111466]
AlphaFold Q8R066
Predicted Effect probably benign
Transcript: ENSMUST00000005647
SMART Domains Protein: ENSMUSP00000005647
Gene: ENSMUSG00000005510

DomainStartEndE-ValueType
Pfam:Complex1_30kDa 85 207 1.9e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111466
AA Change: F307S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107091
Gene: ENSMUSG00000040794
AA Change: F307S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
C1Q 22 158 1.51e-28 SMART
C1Q 166 312 2.47e-24 SMART
Meta Mutation Damage Score 0.4952 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Akr7a5 A T 4: 139,038,059 (GRCm39) probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
D5Ertd579e A G 5: 36,772,278 (GRCm39) S706P probably damaging Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prkci T C 3: 31,097,915 (GRCm39) V455A probably damaging Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Snrnp27 T C 6: 86,653,255 (GRCm39) D121G possibly damaging Het
Spag6 A T 2: 18,739,029 (GRCm39) M320L probably benign Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Tubgcp3 A C 8: 12,674,885 (GRCm39) I745S probably damaging Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S possibly damaging Het
Other mutations in C1qtnf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0078:C1qtnf4 UTSW 2 90,719,893 (GRCm39) missense probably damaging 1.00
R0105:C1qtnf4 UTSW 2 90,720,707 (GRCm39) makesense probably null
R1970:C1qtnf4 UTSW 2 90,720,003 (GRCm39) missense probably damaging 0.99
R4647:C1qtnf4 UTSW 2 90,719,996 (GRCm39) missense probably damaging 1.00
R5748:C1qtnf4 UTSW 2 90,719,877 (GRCm39) missense probably damaging 1.00
R6995:C1qtnf4 UTSW 2 90,720,297 (GRCm39) missense probably benign
R7274:C1qtnf4 UTSW 2 90,719,885 (GRCm39) missense probably damaging 1.00
R9710:C1qtnf4 UTSW 2 90,720,351 (GRCm39) missense probably damaging 0.98
X0063:C1qtnf4 UTSW 2 90,720,656 (GRCm39) missense probably damaging 1.00
Z1177:C1qtnf4 UTSW 2 90,719,849 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTGCAGGCCATGATTTACG -3'
(R):5'- ATCACAGTCATGACACAGGGC -3'

Sequencing Primer
(F):5'- CAGGCCATGATTTACGACGACG -3'
(R):5'- CCACTTTATTGGCAGAGTCCAGG -3'
Posted On 2022-05-16