Incidental Mutation 'R5844:Cym'
ID450576
Institutional Source Beutler Lab
Gene Symbol Cym
Ensembl Gene ENSMUSG00000046213
Gene Namechymosin
SynonymsLOC229697, Gm131
MMRRC Submission 044062-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #R5844 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location107211293-107221732 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107219764 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 25 (H25R)
Ref Sequence ENSEMBL: ENSMUSP00000029504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029504]
Predicted Effect probably benign
Transcript: ENSMUST00000029504
AA Change: H25R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029504
Gene: ENSMUSG00000046213
AA Change: H25R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:A1_Propeptide 19 45 1.5e-16 PFAM
Pfam:Asp 73 378 5.8e-110 PFAM
Pfam:TAXi_N 74 228 3.6e-12 PFAM
Meta Mutation Damage Score 0.122 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 82,065,864 M1321L probably benign Het
Adra1a C T 14: 66,727,734 T391I probably benign Het
Atf7ip C A 6: 136,606,814 A1281D probably damaging Het
BC005624 T C 2: 30,976,011 N141S probably benign Het
Catsperg2 A T 7: 29,697,832 L1082Q possibly damaging Het
Cavin2 C T 1: 51,289,839 R152C probably damaging Het
Ccdc33 C T 9: 58,033,206 probably benign Het
Cfap43 T C 19: 47,795,696 D466G probably benign Het
Cfap46 C A 7: 139,650,942 M923I probably damaging Het
Chd1l T A 3: 97,572,567 K621N probably benign Het
Cnksr1 A G 4: 134,228,264 probably benign Het
Dagla T A 19: 10,271,125 D57V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,951,021 probably benign Het
Dse T A 10: 34,153,042 D684V probably damaging Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Fbxo10 A T 4: 45,058,760 S326T probably benign Het
Galntl5 G T 5: 25,186,093 probably benign Het
Grm5 A G 7: 87,804,024 R290G possibly damaging Het
Gtpbp3 A G 8: 71,492,555 T425A probably benign Het
Hepacam2 A G 6: 3,476,073 I284T probably damaging Het
Ifi205 A C 1: 174,026,692 probably null Het
Irs3 T C 5: 137,644,286 T297A probably benign Het
Kmt2d G A 15: 98,852,109 probably benign Het
Map4k4 T A 1: 39,999,876 probably benign Het
Mfsd6 T C 1: 52,658,383 S782G probably benign Het
Mis18a G A 16: 90,727,081 silent Het
Mtpn C T 6: 35,512,290 D100N probably benign Het
Myom2 G A 8: 15,131,182 probably null Het
Olfr1002 A G 2: 85,647,895 V142A probably benign Het
Olfr211 A T 6: 116,493,939 E110V probably damaging Het
Pde3b C T 7: 114,508,871 T568I probably benign Het
Pkhd1 G T 1: 20,381,461 D2203E probably benign Het
Ppp1r36 A G 12: 76,426,792 K66E possibly damaging Het
Rfc1 C A 5: 65,293,787 M319I probably benign Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Runx1t1 T C 4: 13,881,068 V456A probably damaging Het
Rxfp2 A G 5: 150,043,124 K109R probably benign Het
Sgo2a T G 1: 58,016,397 V580G probably damaging Het
Skint9 T C 4: 112,413,883 Q110R probably benign Het
Slc38a9 A G 13: 112,731,501 Y507C probably damaging Het
Smarca4 T A 9: 21,677,942 probably benign Het
Tmem55b T C 14: 50,929,042 T160A probably benign Het
Tmem88 C G 11: 69,397,678 Q138H probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Tns3 A C 11: 8,434,580 F1413V probably damaging Het
Trpm8 T C 1: 88,384,711 *1105Q probably null Het
Wdyhv1 A G 15: 58,153,660 N157S probably benign Het
Zfp853 C T 5: 143,288,669 V399M unknown Het
Zim1 T C 7: 6,678,116 R183G probably benign Het
Zmiz1 T C 14: 25,656,930 S871P probably damaging Het
Other mutations in Cym
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Cym APN 3 107214285 missense probably damaging 0.97
IGL02480:Cym APN 3 107213522 missense probably benign 0.00
IGL03224:Cym APN 3 107218732 missense possibly damaging 0.69
R1466:Cym UTSW 3 107213458 missense probably damaging 1.00
R1466:Cym UTSW 3 107213458 missense probably damaging 1.00
R1753:Cym UTSW 3 107213425 missense possibly damaging 0.91
R1768:Cym UTSW 3 107213500 missense probably damaging 1.00
R1851:Cym UTSW 3 107218714 missense probably benign 0.20
R4093:Cym UTSW 3 107214266 missense probably benign 0.06
R4094:Cym UTSW 3 107214266 missense probably benign 0.06
R4114:Cym UTSW 3 107219749 missense probably damaging 1.00
R4583:Cym UTSW 3 107211402 missense probably damaging 1.00
R4782:Cym UTSW 3 107216097 missense possibly damaging 0.60
R5953:Cym UTSW 3 107213467 missense probably damaging 1.00
R7133:Cym UTSW 3 107214214 missense probably damaging 1.00
R7298:Cym UTSW 3 107219693 missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ATCTGTGCCTGAGAAGGTCTG -3'
(R):5'- AGCGAGTCTCTACCACACTG -3'

Sequencing Primer
(F):5'- TGCCGAGACACTCACATCTAGATAG -3'
(R):5'- ACCAGAGTGTAGTAGTTAATGACAC -3'
Posted On2016-12-20