Incidental Mutation 'IGL02609:C1qtnf1'
ID300413
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 #IGL02609
Quality Score
Status
Chromosome11
Chromosomal Location118428203-118449963 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118448004 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 167 (F167L)
Ref Sequence ENSEMBL: ENSMUSP00000017590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017590] [ENSMUST00000106286] [ENSMUST00000124861] [ENSMUST00000133558]
Predicted Effect probably damaging
Transcript: ENSMUST00000017590
AA Change: F167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017590
Gene: ENSMUSG00000017446
AA Change: F167L

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: F167L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101893
Gene: ENSMUSG00000017446
AA Change: F167L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in C1qtnf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01805:C1qtnf1 APN 11 118448167 missense probably damaging 1.00
IGL02376:C1qtnf1 APN 11 118448068 missense probably benign 0.29
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 unclassified probably null
R2902:C1qtnf1 UTSW 11 118448104 unclassified 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
X0021:C1qtnf1 UTSW 11 118443780 nonsense probably null
Z1177:C1qtnf1 UTSW 11 118443754 missense probably benign 0.00
Posted On2015-04-16