Incidental Mutation 'R6966:Chid1'
ID 541995
Institutional Source Beutler Lab
Gene Symbol Chid1
Ensembl Gene ENSMUSG00000025512
Gene Name chitinase domain containing 1
Synonyms 3110023E09Rik
MMRRC Submission 045076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 141073049-141119770 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141076297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 357 (Y357F)
Ref Sequence ENSEMBL: ENSMUSP00000114693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026585] [ENSMUST00000026586] [ENSMUST00000117634] [ENSMUST00000118694] [ENSMUST00000138092] [ENSMUST00000166082] [ENSMUST00000146305] [ENSMUST00000153191] [ENSMUST00000209452]
AlphaFold Q922Q9
Predicted Effect probably benign
Transcript: ENSMUST00000026585
SMART Domains Protein: ENSMUSP00000026585
Gene: ENSMUSG00000025511

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4.7e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000026586
AA Change: Y274F

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512
AA Change: Y274F

DomainStartEndE-ValueType
PDB:3BXW|A 4 240 1e-142 PDB
Blast:Glyco_18 82 302 1e-139 BLAST
SCOP:d1e9la1 84 240 1e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064642
SMART Domains Protein: ENSMUSP00000065953
Gene: ENSMUSG00000025512

DomainStartEndE-ValueType
PDB:3BXW|A 3 236 1e-143 PDB
Blast:Glyco_18 81 268 1e-121 BLAST
SCOP:d1e9la1 83 236 2e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117634
SMART Domains Protein: ENSMUSP00000113085
Gene: ENSMUSG00000025511

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 1.1e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118694
AA Change: Y271F

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512
AA Change: Y271F

DomainStartEndE-ValueType
PDB:3BXW|A 1 237 1e-142 PDB
Blast:Glyco_18 79 299 1e-139 BLAST
SCOP:d1e9la1 81 237 1e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138092
SMART Domains Protein: ENSMUSP00000115421
Gene: ENSMUSG00000025511

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 154 1.8e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166082
AA Change: Y360F

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512
AA Change: Y360F

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
Glyco_18 82 388 3.54e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146305
SMART Domains Protein: ENSMUSP00000118533
Gene: ENSMUSG00000025511

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 158 2.5e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153191
AA Change: Y357F

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512
AA Change: Y357F

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
Glyco_18 79 385 3.54e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209452
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,974,472 (GRCm39) R177C possibly damaging Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Bahcc1 G A 11: 120,173,985 (GRCm39) V1582M probably damaging Het
Baiap2 A T 11: 119,897,231 (GRCm39) R529* probably null Het
Bcl9l C T 9: 44,420,685 (GRCm39) Q1327* probably null Het
Brsk2 T A 7: 141,538,270 (GRCm39) C139S possibly damaging Het
Catsper3 T A 13: 55,946,672 (GRCm39) I123N probably damaging Het
Cd84 A G 1: 171,713,976 (GRCm39) N325D possibly damaging Het
Clstn2 A T 9: 97,408,459 (GRCm39) Y416* probably null Het
Cnot1 A T 8: 96,451,160 (GRCm39) L2189Q probably damaging Het
Csnk2b T A 17: 35,336,758 (GRCm39) I170L probably benign Het
Dnah3 T C 7: 119,631,977 (GRCm39) Q1326R probably damaging Het
Drd1 T C 13: 54,207,564 (GRCm39) I210V probably damaging Het
Eef1d G T 15: 75,775,558 (GRCm39) Q34K probably benign Het
Fam184a T C 10: 53,531,095 (GRCm39) T760A probably benign Het
Fnip1 G T 11: 54,373,385 (GRCm39) V199F probably benign Het
Glyatl3 T C 17: 41,215,829 (GRCm39) K226E probably damaging Het
Gm19410 C T 8: 36,285,127 (GRCm39) T2093I possibly damaging Het
Herc1 A T 9: 66,318,347 (GRCm39) E1206D probably benign Het
Hs6st1 G A 1: 36,143,299 (GRCm39) W411* probably null Het
Hsf2 C A 10: 57,372,080 (GRCm39) S60R probably damaging Het
Hyal5 C A 6: 24,891,291 (GRCm39) N368K probably damaging Het
Itgb2l A T 16: 96,231,843 (GRCm39) F308I probably benign Het
Kdm7a G A 6: 39,129,773 (GRCm39) L468F probably damaging Het
Lamp3 A T 16: 19,518,403 (GRCm39) L278* probably null Het
Ly6c1 A T 15: 74,917,289 (GRCm39) probably benign Het
Mark3 A G 12: 111,606,458 (GRCm39) N524D probably damaging Het
Met T G 6: 17,531,531 (GRCm39) L603R possibly damaging Het
Mical1 A T 10: 41,355,750 (GRCm39) Q198L probably damaging Het
Nacad T A 11: 6,552,634 (GRCm39) I186F possibly damaging Het
Nt5c3b A T 11: 100,320,750 (GRCm39) M257K probably benign Het
Nuak2 T C 1: 132,252,770 (GRCm39) M108T possibly damaging Het
Nub1 T A 5: 24,894,470 (GRCm39) Y51N probably damaging Het
Nxpe5 T C 5: 138,237,679 (GRCm39) S68P probably damaging Het
Or10ag58 C T 2: 87,265,623 (GRCm39) T264I probably damaging Het
Or5d44 A G 2: 88,141,835 (GRCm39) S102P probably benign Het
Or6c66 A G 10: 129,461,633 (GRCm39) V99A probably benign Het
Pias3 A G 3: 96,609,511 (GRCm39) D276G probably damaging Het
Setd7 A G 3: 51,437,605 (GRCm39) Y217H probably damaging Het
Slc23a1 A T 18: 35,758,114 (GRCm39) I142N probably damaging Het
Slx4ip T C 2: 136,910,144 (GRCm39) S310P probably damaging Het
Tcp11l2 G A 10: 84,427,133 (GRCm39) R199Q possibly damaging Het
Tgm4 T A 9: 122,880,207 (GRCm39) D226E possibly damaging Het
Tspyl4 C A 10: 34,173,673 (GRCm39) A55E probably benign Het
Uap1l1 A G 2: 25,254,950 (GRCm39) I146T probably damaging Het
Ush2a G A 1: 188,308,441 (GRCm39) G2030D probably damaging Het
Uts2r G A 11: 121,052,213 (GRCm39) G359D possibly damaging Het
Vwa7 T C 17: 35,236,072 (GRCm39) S9P probably benign Het
Zbtb16 A G 9: 48,568,654 (GRCm39) C604R probably damaging Het
Zfp804b A G 5: 6,821,615 (GRCm39) S483P probably damaging Het
Zfpm1 G A 8: 123,058,904 (GRCm39) A175T probably damaging Het
Other mutations in Chid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Chid1 APN 7 141,102,609 (GRCm39) missense probably damaging 1.00
IGL01095:Chid1 APN 7 141,110,142 (GRCm39) missense probably damaging 1.00
IGL01382:Chid1 APN 7 141,110,166 (GRCm39) missense probably damaging 1.00
IGL01505:Chid1 APN 7 141,093,807 (GRCm39) splice site probably null
IGL02108:Chid1 APN 7 141,112,841 (GRCm39) start codon destroyed probably null 0.98
IGL02216:Chid1 APN 7 141,076,506 (GRCm39) splice site probably benign
IGL02574:Chid1 APN 7 141,076,603 (GRCm39) splice site probably benign
R0006:Chid1 UTSW 7 141,076,339 (GRCm39) splice site probably benign
R0006:Chid1 UTSW 7 141,076,339 (GRCm39) splice site probably benign
R0711:Chid1 UTSW 7 141,076,590 (GRCm39) missense probably benign
R1518:Chid1 UTSW 7 141,108,384 (GRCm39) missense probably damaging 0.98
R1836:Chid1 UTSW 7 141,106,409 (GRCm39) splice site probably null
R5026:Chid1 UTSW 7 141,093,749 (GRCm39) missense probably damaging 0.99
R5516:Chid1 UTSW 7 141,076,059 (GRCm39) missense probably damaging 1.00
R5811:Chid1 UTSW 7 141,110,166 (GRCm39) missense probably damaging 1.00
R6009:Chid1 UTSW 7 141,109,493 (GRCm39) missense probably damaging 1.00
R6182:Chid1 UTSW 7 141,108,415 (GRCm39) missense probably benign 0.08
R6238:Chid1 UTSW 7 141,076,049 (GRCm39) missense probably benign 0.03
R7106:Chid1 UTSW 7 141,102,573 (GRCm39) missense probably benign 0.01
R7278:Chid1 UTSW 7 141,109,401 (GRCm39) splice site probably null
R7773:Chid1 UTSW 7 141,109,518 (GRCm39) missense probably benign 0.02
R8714:Chid1 UTSW 7 141,093,678 (GRCm39) nonsense probably null
R9169:Chid1 UTSW 7 141,093,722 (GRCm39) missense probably damaging 1.00
R9536:Chid1 UTSW 7 141,093,755 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCAAATTACCCTAGACATGGG -3'
(R):5'- CGGAGCACTTCTTTGAGTACAAG -3'

Sequencing Primer
(F):5'- TTACCCTAGACATGGGGGCAATG -3'
(R):5'- AAGTGAGTGACTTGTAGCTCACC -3'
Posted On 2018-11-28