Incidental Mutation 'R5113:Chil5'
ID 394006
Institutional Source Beutler Lab
Gene Symbol Chil5
Ensembl Gene ENSMUSG00000043873
Gene Name chitinase-like 5
Synonyms Chi3l7, Bclp1, Bclp2
MMRRC Submission 042701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5113 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 106016919-106032814 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106017978 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 209 (V209E)
Ref Sequence ENSEMBL: ENSMUSP00000065043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010280] [ENSMUST00000066537] [ENSMUST00000200146]
AlphaFold A0A0G2JDS2
Predicted Effect probably benign
Transcript: ENSMUST00000010280
SMART Domains Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 183 209 5.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054973
SMART Domains Protein: ENSMUSP00000052345
Gene: ENSMUSG00000043873

DomainStartEndE-ValueType
Pfam:Glyco_hydro_18 1 156 5.4e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066537
AA Change: V209E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065043
Gene: ENSMUSG00000043873
AA Change: V209E

DomainStartEndE-ValueType
Glyco_18 1 174 2.61e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198855
Predicted Effect possibly damaging
Transcript: ENSMUST00000200146
AA Change: V389E

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142477
Gene: ENSMUSG00000043873
AA Change: V389E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 365 2.1e-133 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,315,995 V622A possibly damaging Het
Ankef1 A G 2: 136,552,441 N590S probably benign Het
Anks6 C T 4: 47,030,795 G601S probably damaging Het
Ano3 A T 2: 110,661,480 N867K possibly damaging Het
Ash1l T C 3: 89,066,275 V2547A probably damaging Het
Ccpg1os T A 9: 72,979,893 R111* probably null Het
Cltc A T 11: 86,722,321 C459S probably damaging Het
Col6a4 T A 9: 106,066,960 D1105V possibly damaging Het
Cyp2c66 A G 19: 39,163,438 D199G probably benign Het
Cyp4f18 A G 8: 71,989,058 probably null Het
Cysrt1 A T 2: 25,239,351 C50S possibly damaging Het
Dapk1 A G 13: 60,721,778 K278R probably benign Het
Eefsec C A 6: 88,281,575 S512I probably damaging Het
Emilin1 T C 5: 30,920,620 F908L possibly damaging Het
Eml1 T C 12: 108,537,337 V731A possibly damaging Het
Erc2 T C 14: 27,652,872 S16P probably benign Het
Gfpt2 A G 11: 49,823,799 R342G probably damaging Het
Gpr142 A T 11: 114,804,317 Q36L probably benign Het
Grik5 A G 7: 25,015,527 S681P probably damaging Het
Hecw1 A T 13: 14,346,029 S208T possibly damaging Het
Hmgcr G A 13: 96,656,732 A464V probably benign Het
Igkv2-109 A G 6: 68,303,085 T97A possibly damaging Het
Ino80 G T 2: 119,431,945 Q687K probably damaging Het
Kdm4d T C 9: 14,464,113 N150D probably damaging Het
Klf4 A G 4: 55,530,481 I210T possibly damaging Het
Klkb1 C A 8: 45,270,697 Q560H probably benign Het
Lce1a2 A T 3: 92,669,135 V40E unknown Het
Maob T C X: 16,716,423 T400A probably benign Het
Mipol1 C T 12: 57,496,499 T393I probably benign Het
Mst1 A G 9: 108,082,247 D244G probably damaging Het
Nexn G A 3: 152,243,888 R258C probably damaging Het
Olfr1353 A G 10: 78,970,203 I185V probably benign Het
Olfr748 A C 14: 50,710,914 I195L probably benign Het
Olfr777 A G 10: 129,268,666 I219T probably damaging Het
Olfr975 T C 9: 39,949,925 N282S probably damaging Het
Optc T C 1: 133,900,977 probably benign Het
Pabpc2 C A 18: 39,775,383 P567Q probably benign Het
Ppm1j A G 3: 104,784,674 H324R possibly damaging Het
Reg3g A T 6: 78,466,561 probably null Het
Sipa1l1 C T 12: 82,440,908 A1652V probably benign Het
Ski T C 4: 155,159,392 T554A probably benign Het
Slfn5 G A 11: 82,961,696 V883M probably benign Het
Stradb T C 1: 58,991,174 probably benign Het
Tex19.1 A G 11: 121,147,799 T328A probably benign Het
Tpsab1 T C 17: 25,345,399 N27S possibly damaging Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Ttn A T 2: 76,812,900 L13225Q probably damaging Het
Vmn1r28 A G 6: 58,265,858 T229A probably benign Het
Wapl A G 14: 34,724,754 K600E probably damaging Het
Zfp217 T C 2: 170,114,058 probably null Het
Other mutations in Chil5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Chil5 APN 3 106017152 missense possibly damaging 0.73
IGL02959:Chil5 APN 3 106019590 missense probably damaging 1.00
R0255:Chil5 UTSW 3 106019267 missense probably damaging 1.00
R0409:Chil5 UTSW 3 106034966 unclassified probably benign
R0635:Chil5 UTSW 3 106017203 missense possibly damaging 0.50
R1403:Chil5 UTSW 3 106018093 missense probably benign 0.06
R1403:Chil5 UTSW 3 106018093 missense probably benign 0.06
R3500:Chil5 UTSW 3 106018220 missense probably damaging 1.00
R4426:Chil5 UTSW 3 106019627 missense probably damaging 0.96
R4680:Chil5 UTSW 3 106034875 unclassified probably benign
R4998:Chil5 UTSW 3 106019932 missense probably damaging 0.99
R5045:Chil5 UTSW 3 106024140 missense possibly damaging 0.61
R5274:Chil5 UTSW 3 106028853 missense probably damaging 1.00
R5627:Chil5 UTSW 3 106019635 missense probably damaging 1.00
R6910:Chil5 UTSW 3 106019661 missense probably damaging 1.00
R7476:Chil5 UTSW 3 106020007 missense possibly damaging 0.69
R8772:Chil5 UTSW 3 106018220 missense probably damaging 1.00
R9730:Chil5 UTSW 3 106019154 missense possibly damaging 0.80
Z1177:Chil5 UTSW 3 106028818 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGATTTTCTCTAGAGGCATCCCATC -3'
(R):5'- TGGATGTTCTGAGGCCCAAG -3'

Sequencing Primer
(F):5'- CATCCCTGGCATGGAAGTTGAG -3'
(R):5'- GCCCAAGCCTGAATTTCAAG -3'
Posted On 2016-06-15