Incidental Mutation 'IGL01805:C1qtnf1'
ID155647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qtnf1
Ensembl Gene ENSMUSG00000017446
Gene NameC1q and tumor necrosis factor related protein 1
Synonyms1600017K21Rik, CTRP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01805
Quality Score
Status
Chromosome11
Chromosomal Location118428203-118449963 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 118448167 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 221 (L221Q)
Ref Sequence ENSEMBL: ENSMUSP00000101893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017590] [ENSMUST00000106286] [ENSMUST00000124861] [ENSMUST00000133558]
Predicted Effect probably damaging
Transcript: ENSMUST00000017590
AA Change: L221Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017590
Gene: ENSMUSG00000017446
AA Change: L221Q

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 85 96 N/A INTRINSIC
C1Q 140 278 8.4e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106286
AA Change: L221Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101893
Gene: ENSMUSG00000017446
AA Change: L221Q

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 85 96 N/A INTRINSIC
C1Q 140 278 8.6e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124861
Predicted Effect probably benign
Transcript: ENSMUST00000133558
SMART Domains Protein: ENSMUSP00000117467
Gene: ENSMUSG00000017446

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142751
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose and lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,925,518 D17G possibly damaging Het
Adam28 G T 14: 68,642,091 S169R probably benign Het
Aox1 T C 1: 58,081,513 M855T possibly damaging Het
Apc C A 18: 34,318,218 N2688K probably benign Het
Arhgap23 T A 11: 97,492,602 probably benign Het
Bpifa6 A G 2: 153,984,912 T66A probably benign Het
Ccdc175 T A 12: 72,129,229 probably benign Het
Ccl1 C A 11: 82,178,132 M26I possibly damaging Het
D17Wsu92e C T 17: 27,767,906 probably benign Het
Dnah10 T A 5: 124,783,921 F2123I probably damaging Het
Dpcr1 T A 17: 35,637,643 T355S possibly damaging Het
Fancm T C 12: 65,113,861 probably null Het
Fstl4 C A 11: 53,186,357 A647E probably damaging Het
Hmgb4 G T 4: 128,260,222 probably benign Het
Hr A T 14: 70,565,297 probably benign Het
Kcna4 G T 2: 107,296,498 V526L probably damaging Het
Mas1 T C 17: 12,842,230 Y102C probably damaging Het
Mul1 C T 4: 138,439,663 P343S possibly damaging Het
Obscn T C 11: 59,132,596 S652G probably damaging Het
Olfr972 T C 9: 39,873,779 F168S probably damaging Het
Pjvk A T 2: 76,657,514 N250I probably benign Het
Pkd2 T C 5: 104,483,093 I461T probably benign Het
Psen2 T C 1: 180,229,838 probably null Het
Ralb T C 1: 119,475,995 E81G probably benign Het
Slc15a4 T C 5: 127,608,836 T261A possibly damaging Het
Vmn2r77 G A 7: 86,811,187 V574M probably benign Het
Xrn2 A G 2: 147,028,143 I251V probably damaging Het
Zfp974 G A 7: 27,912,264 probably benign Het
Other mutations in C1qtnf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02376:C1qtnf1 APN 11 118448068 missense probably benign 0.29
IGL02609:C1qtnf1 APN 11 118448004 missense probably damaging 1.00
R0594:C1qtnf1 UTSW 11 118446628 missense possibly damaging 0.96
R1170:C1qtnf1 UTSW 11 118448269 missense probably damaging 1.00
R1442:C1qtnf1 UTSW 11 118448185 missense probably damaging 1.00
R1526:C1qtnf1 UTSW 11 118443790 missense possibly damaging 0.92
R1540:C1qtnf1 UTSW 11 118447923 missense probably benign 0.28
R1896:C1qtnf1 UTSW 11 118443757 missense probably damaging 1.00
R2011:C1qtnf1 UTSW 11 118448284 missense probably benign 0.04
R2012:C1qtnf1 UTSW 11 118448284 missense probably benign 0.04
R2901:C1qtnf1 UTSW 11 118448104 splice site probably null
R2902:C1qtnf1 UTSW 11 118448104 splice site probably null
R4011:C1qtnf1 UTSW 11 118446539 missense probably benign
R4897:C1qtnf1 UTSW 11 118448112 missense probably damaging 1.00
R6335:C1qtnf1 UTSW 11 118448134 missense probably damaging 1.00
R7250:C1qtnf1 UTSW 11 118448350 makesense probably null
R8322:C1qtnf1 UTSW 11 118447857 missense probably benign 0.00
R8558:C1qtnf1 UTSW 11 118448323 missense probably damaging 0.99
R8679:C1qtnf1 UTSW 11 118446514 nonsense probably null
X0021:C1qtnf1 UTSW 11 118443780 nonsense probably null
Z1177:C1qtnf1 UTSW 11 118443754 missense probably benign 0.00
Posted On2014-02-04