Incidental Mutation 'IGL03178:C1qtnf2'
ID412098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qtnf2
Ensembl Gene ENSMUSG00000046491
Gene NameC1q and tumor necrosis factor related protein 2
Synonyms1810033K05Rik, CTRP2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03178
Quality Score
Status
Chromosome11
Chromosomal Location43474276-43491525 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 43490989 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 179 (D179E)
Ref Sequence ENSEMBL: ENSMUSP00000051652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057679] [ENSMUST00000151912] [ENSMUST00000173002]
Predicted Effect probably damaging
Transcript: ENSMUST00000057679
AA Change: D179E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051652
Gene: ENSMUSG00000046491
AA Change: D179E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Collagen 46 104 1.2e-10 PFAM
Pfam:Collagen 90 151 2.1e-11 PFAM
C1Q 152 287 3.96e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151912
SMART Domains Protein: ENSMUSP00000133616
Gene: ENSMUSG00000046491

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Collagen 46 103 6.8e-11 PFAM
Pfam:Collagen 79 137 3.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173002
AA Change: D209E

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134705
Gene: ENSMUSG00000046491
AA Change: D209E

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
Pfam:Collagen 76 135 7.4e-11 PFAM
Pfam:Collagen 121 181 1.9e-11 PFAM
C1Q 182 317 3.96e-46 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 A G 5: 34,614,245 probably null Het
Alpk1 A T 3: 127,680,221 L711* probably null Het
Arfgef3 A T 10: 18,613,225 W1291R probably damaging Het
Arhgef10l A G 4: 140,544,428 V545A possibly damaging Het
Best3 A G 10: 116,988,779 Y50C probably damaging Het
C87977 A G 4: 144,208,251 probably null Het
Cdc40 A T 10: 40,847,989 S268T probably benign Het
Ces1a C T 8: 93,020,889 G505R probably damaging Het
Cpd A T 11: 76,806,051 N683K probably benign Het
D430041D05Rik A T 2: 104,221,211 I767N probably damaging Het
Diras1 G T 10: 81,022,377 F13L possibly damaging Het
Dnah7c A G 1: 46,467,365 N201D probably benign Het
Dpy19l3 A T 7: 35,729,729 Y9* probably null Het
Ect2 T A 3: 27,148,860 I79L probably benign Het
Eif2b4 A T 5: 31,187,653 I550N probably damaging Het
Enpp2 T A 15: 54,866,006 M476L probably benign Het
Gm20425 A G 9: 103,210,552 Y654H probably damaging Het
Gm5884 T C 6: 128,645,727 noncoding transcript Het
Gm7257 T G 9: 36,432,836 S38R probably benign Het
Gtf3c6 A T 10: 40,249,722 D166E probably benign Het
Gucy2c A T 6: 136,729,239 probably benign Het
Inpp5b A G 4: 124,785,254 T485A probably benign Het
Insrr A G 3: 87,802,541 probably null Het
Lig3 T C 11: 82,789,722 probably benign Het
Lmo7 T A 14: 101,929,260 Y1047* probably null Het
Map4k4 A G 1: 39,986,693 E281G possibly damaging Het
Mmel1 A G 4: 154,890,854 T431A possibly damaging Het
Myh10 T C 11: 68,699,413 V58A probably benign Het
Myo1e A T 9: 70,286,949 H14L possibly damaging Het
Myo1g C T 11: 6,512,181 V594M probably damaging Het
Nr4a2 G A 2: 57,110,766 R226C probably damaging Het
Obox3 A G 7: 15,627,277 L21P probably benign Het
Olfr1383 A G 11: 49,523,990 D89G possibly damaging Het
Phlpp1 T A 1: 106,392,388 I1371N probably damaging Het
Proser3 G A 7: 30,543,609 A181V probably damaging Het
Pudp A T 18: 50,568,401 L87Q probably benign Het
Siglecf T C 7: 43,358,739 S559P probably damaging Het
Slc22a16 A G 10: 40,573,760 H85R probably benign Het
Spata32 T C 11: 103,210,762 D15G probably benign Het
Spata5 T C 3: 37,578,783 L846P probably damaging Het
Szt2 G A 4: 118,382,689 A1899V unknown Het
Tcrg-V7 C A 13: 19,178,041 probably benign Het
Tomm40 C T 7: 19,701,834 V324M probably damaging Het
Ttll4 C T 1: 74,680,408 P25S probably damaging Het
Vps13b G T 15: 35,869,300 C2650F probably damaging Het
Wdr83os T C 8: 85,081,241 L40P probably damaging Het
Zfp977 T C 7: 42,582,648 R64G probably damaging Het
Other mutations in C1qtnf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00266:C1qtnf2 APN 11 43485999 missense possibly damaging 0.93
PIT4305001:C1qtnf2 UTSW 11 43491195 missense probably damaging 1.00
R0226:C1qtnf2 UTSW 11 43490843 missense probably benign
R1412:C1qtnf2 UTSW 11 43491132 missense probably damaging 1.00
R1796:C1qtnf2 UTSW 11 43491287 missense probably damaging 1.00
R2145:C1qtnf2 UTSW 11 43490984 missense probably damaging 1.00
R2504:C1qtnf2 UTSW 11 43491156 missense probably damaging 1.00
R3829:C1qtnf2 UTSW 11 43491321 missense probably benign
R5106:C1qtnf2 UTSW 11 43486053 missense possibly damaging 0.71
R5547:C1qtnf2 UTSW 11 43490967 missense probably damaging 1.00
R5879:C1qtnf2 UTSW 11 43486008 missense probably damaging 0.99
R8138:C1qtnf2 UTSW 11 43486011 missense probably damaging 1.00
R8218:C1qtnf2 UTSW 11 43490948 missense possibly damaging 0.87
Posted On2016-08-02