Incidental Mutation 'R4949:Chil4'
ID 383654
Institutional Source Beutler Lab
Gene Symbol Chil4
Ensembl Gene ENSMUSG00000063779
Gene Name chitinase-like 4
Synonyms Chi3l4, Ym2
MMRRC Submission 042546-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4949 (G1)
Quality Score 118
Status Not validated
Chromosome 3
Chromosomal Location 106108807-106126795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106113408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 170 (S170P)
Ref Sequence ENSEMBL: ENSMUSP00000080851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082219]
AlphaFold Q91Z98
Predicted Effect possibly damaging
Transcript: ENSMUST00000082219
AA Change: S170P

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080851
Gene: ENSMUSG00000063779
AA Change: S170P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Glyco_18 22 365 1.77e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147453
AA Change: I96T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196128
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,769,450 (GRCm39) V692A probably benign Het
Bcl2l13 G T 6: 120,864,191 (GRCm39) G382W probably damaging Het
Cdhr5 T A 7: 140,852,557 (GRCm39) N353I probably damaging Het
Clp1 A C 2: 84,554,086 (GRCm39) M361R possibly damaging Het
Cylc2 A G 4: 51,229,804 (GRCm39) K382R unknown Het
Dsg2 T A 18: 20,723,241 (GRCm39) D422E probably damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Gm14295 A C 2: 176,501,469 (GRCm39) T320P probably damaging Het
Ido2 T G 8: 25,023,970 (GRCm39) probably null Het
Ift140 T A 17: 25,313,639 (GRCm39) S1357T probably benign Het
Insr T G 8: 3,235,059 (GRCm39) E145A probably benign Het
Itpripl1 A G 2: 126,983,327 (GRCm39) M265T probably benign Het
Kcnb1 G T 2: 166,947,521 (GRCm39) N442K probably damaging Het
Kifc5b C A 17: 27,144,488 (GRCm39) R536S probably damaging Het
Klf6 A T 13: 5,914,947 (GRCm39) S129C probably benign Het
Lpin2 C G 17: 71,538,334 (GRCm39) P327A probably damaging Het
Lsm1 T C 8: 26,292,065 (GRCm39) V114A probably benign Het
Map7d1 C T 4: 126,128,846 (GRCm39) W218* probably null Het
N4bp2 T A 5: 65,979,142 (GRCm39) probably null Het
Nt5el T A 13: 105,246,214 (GRCm39) S258R probably damaging Het
Rheb A T 5: 25,008,729 (GRCm39) I163K possibly damaging Het
Rph3a T C 5: 121,101,897 (GRCm39) D113G probably damaging Het
Scn8a A G 15: 100,927,663 (GRCm39) N1381D probably damaging Het
Sdsl T A 5: 120,597,870 (GRCm39) N208Y possibly damaging Het
Serpinb9e A G 13: 33,435,591 (GRCm39) N8S possibly damaging Het
Sox18 G A 2: 181,313,017 (GRCm39) Q100* probably null Het
Taar8b C T 10: 23,967,825 (GRCm39) C123Y probably damaging Het
Tas2r124 A G 6: 132,731,858 (GRCm39) I56V possibly damaging Het
Tes C A 6: 17,100,359 (GRCm39) H331N probably benign Het
Tmbim1 T G 1: 74,334,524 (GRCm39) D12A probably damaging Het
Tmprss4 T C 9: 45,086,841 (GRCm39) I307V possibly damaging Het
Ttll1 A T 15: 83,386,374 (GRCm39) M77K probably null Het
Ttpal G A 2: 163,455,671 (GRCm39) R220Q probably damaging Het
Vmn1r230 T A 17: 21,067,625 (GRCm39) H271Q probably benign Het
Vmn2r32 A G 7: 7,467,083 (GRCm39) I815T probably benign Het
Other mutations in Chil4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Chil4 APN 3 106,109,113 (GRCm39) missense probably benign
IGL02457:Chil4 APN 3 106,121,715 (GRCm39) missense probably benign
R1087:Chil4 UTSW 3 106,117,881 (GRCm39) missense probably benign 0.01
R1398:Chil4 UTSW 3 106,126,825 (GRCm39) splice site probably null
R1503:Chil4 UTSW 3 106,113,350 (GRCm39) missense probably benign
R1553:Chil4 UTSW 3 106,111,006 (GRCm39) missense probably benign 0.02
R1806:Chil4 UTSW 3 106,117,959 (GRCm39) splice site probably benign
R1873:Chil4 UTSW 3 106,113,414 (GRCm39) missense probably benign 0.00
R2069:Chil4 UTSW 3 106,126,771 (GRCm39) missense probably benign 0.16
R2100:Chil4 UTSW 3 106,121,663 (GRCm39) missense probably benign
R2370:Chil4 UTSW 3 106,121,616 (GRCm39) nonsense probably null
R2984:Chil4 UTSW 3 106,111,043 (GRCm39) missense possibly damaging 0.95
R2985:Chil4 UTSW 3 106,111,043 (GRCm39) missense possibly damaging 0.95
R3522:Chil4 UTSW 3 106,111,056 (GRCm39) missense probably benign 0.08
R3919:Chil4 UTSW 3 106,109,848 (GRCm39) missense probably benign 0.00
R4033:Chil4 UTSW 3 106,121,765 (GRCm39) missense probably damaging 1.00
R4181:Chil4 UTSW 3 106,111,043 (GRCm39) missense possibly damaging 0.95
R4184:Chil4 UTSW 3 106,111,043 (GRCm39) missense possibly damaging 0.95
R4301:Chil4 UTSW 3 106,111,043 (GRCm39) missense possibly damaging 0.95
R4347:Chil4 UTSW 3 106,110,144 (GRCm39) missense probably benign
R4391:Chil4 UTSW 3 106,111,043 (GRCm39) missense possibly damaging 0.95
R4395:Chil4 UTSW 3 106,111,043 (GRCm39) missense possibly damaging 0.95
R4418:Chil4 UTSW 3 106,111,043 (GRCm39) missense possibly damaging 0.95
R4483:Chil4 UTSW 3 106,121,678 (GRCm39) missense probably damaging 1.00
R4544:Chil4 UTSW 3 106,117,922 (GRCm39) missense probably damaging 0.97
R4887:Chil4 UTSW 3 106,111,460 (GRCm39) missense probably benign 0.01
R5076:Chil4 UTSW 3 106,109,913 (GRCm39) missense probably damaging 1.00
R5146:Chil4 UTSW 3 106,110,150 (GRCm39) missense probably benign 0.18
R5254:Chil4 UTSW 3 106,126,768 (GRCm39) missense probably benign 0.00
R5521:Chil4 UTSW 3 106,111,013 (GRCm39) missense possibly damaging 0.50
R5790:Chil4 UTSW 3 106,109,894 (GRCm39) missense probably benign 0.00
R5883:Chil4 UTSW 3 106,117,886 (GRCm39) missense possibly damaging 0.48
R6010:Chil4 UTSW 3 106,121,711 (GRCm39) missense probably damaging 1.00
R6257:Chil4 UTSW 3 106,111,412 (GRCm39) missense possibly damaging 0.84
R6269:Chil4 UTSW 3 106,111,487 (GRCm39) missense probably damaging 1.00
R6602:Chil4 UTSW 3 106,117,906 (GRCm39) missense probably benign 0.00
R7113:Chil4 UTSW 3 106,121,664 (GRCm39) missense probably benign
R7113:Chil4 UTSW 3 106,110,083 (GRCm39) missense probably damaging 1.00
R7188:Chil4 UTSW 3 106,111,475 (GRCm39) missense probably damaging 1.00
R7980:Chil4 UTSW 3 106,110,060 (GRCm39) missense probably damaging 1.00
R8810:Chil4 UTSW 3 106,109,121 (GRCm39) missense probably damaging 0.99
R9300:Chil4 UTSW 3 106,109,874 (GRCm39) missense probably benign 0.10
R9307:Chil4 UTSW 3 106,111,382 (GRCm39) critical splice donor site probably null
R9529:Chil4 UTSW 3 106,118,656 (GRCm39) missense probably damaging 1.00
X0067:Chil4 UTSW 3 106,113,350 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AACTGTGCCTTGAAGCAACC -3'
(R):5'- AGACATTGGAGCCTGTGTTC -3'

Sequencing Primer
(F):5'- GCCTTGAAGCAACCAATAAATAAGTG -3'
(R):5'- GACATTGGAGCCTGTGTTCTAAAC -3'
Posted On 2016-04-27