Incidental Mutation 'R5726:CN725425'
ID 452521
Institutional Source Beutler Lab
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
MMRRC Submission 043344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R5726 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 91083697-91145097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91144706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 523 (E523G)
Ref Sequence ENSEMBL: ENSMUSP00000140772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109284] [ENSMUST00000190436]
AlphaFold A0A087WRU1
Predicted Effect possibly damaging
Transcript: ENSMUST00000109284
AA Change: E516G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: E516G

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
Pfam:DUF4552 219 643 2.7e-202 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000190436
AA Change: E523G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: E523G

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,835,832 (GRCm39) K254E probably damaging Het
Aak1 C T 6: 86,902,106 (GRCm39) Q92* probably null Het
Acss3 T C 10: 106,959,183 (GRCm39) T88A possibly damaging Het
Adcy4 A T 14: 56,021,118 (GRCm39) S6R probably damaging Het
Aldh1l2 T C 10: 83,348,170 (GRCm39) E311G possibly damaging Het
Arhgap25 C T 6: 87,440,441 (GRCm39) S402N probably benign Het
Btn1a1 T A 13: 23,643,522 (GRCm39) D309V probably damaging Het
Cdh23 C T 10: 60,243,259 (GRCm39) V1037M probably damaging Het
Clcn2 T C 16: 20,529,285 (GRCm39) probably benign Het
Cln3 T C 7: 126,174,673 (GRCm39) T276A probably null Het
Crppa T C 12: 36,597,829 (GRCm39) V320A probably damaging Het
Cspg4 A T 9: 56,793,188 (GRCm39) T308S probably damaging Het
Dgkh G T 14: 78,862,342 (GRCm39) F208L probably benign Het
Eif2ak4 A G 2: 118,273,613 (GRCm39) D846G probably damaging Het
Fmo4 A G 1: 162,635,828 (GRCm39) probably null Het
Foxp4 A G 17: 48,180,033 (GRCm39) Y623H unknown Het
Fxr2 T C 11: 69,524,172 (GRCm39) V10A probably benign Het
Gm10271 T C 10: 116,792,792 (GRCm39) probably null Het
Gsk3b T C 16: 38,028,498 (GRCm39) probably benign Het
Ift43 T A 12: 86,208,957 (GRCm39) D169E probably damaging Het
Ift57 T A 16: 49,519,861 (GRCm39) L54H probably damaging Het
Ighv1-37 T C 12: 114,860,294 (GRCm39) probably benign Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lrp2 T C 2: 69,339,491 (GRCm39) D1140G probably damaging Het
Map1a G A 2: 121,135,546 (GRCm39) A1883T probably damaging Het
Map4k2 G T 19: 6,401,362 (GRCm39) G611C probably damaging Het
Mical1 A G 10: 41,359,692 (GRCm39) probably benign Het
Myh14 A G 7: 44,292,886 (GRCm39) probably null Het
Myh8 T A 11: 67,185,392 (GRCm39) V881D possibly damaging Het
Myo1g G T 11: 6,459,420 (GRCm39) Q817K probably benign Het
Nin A C 12: 70,124,953 (GRCm39) V123G probably damaging Het
Nup160 A G 2: 90,548,195 (GRCm39) D976G probably damaging Het
Nup210l A T 3: 90,036,514 (GRCm39) probably null Het
Or5an1c A G 19: 12,218,644 (GRCm39) I127T probably damaging Het
Phf14 T C 6: 11,933,537 (GRCm39) probably benign Het
Podxl2 T C 6: 88,825,721 (GRCm39) D400G probably damaging Het
Pygl C T 12: 70,237,916 (GRCm39) W707* probably null Het
Rnf19b T C 4: 128,965,685 (GRCm39) V261A possibly damaging Het
Rnf213 A G 11: 119,307,284 (GRCm39) Y648C probably damaging Het
Scn5a C T 9: 119,362,913 (GRCm39) R569H probably damaging Het
Sdk2 A G 11: 113,742,626 (GRCm39) L761P probably damaging Het
Shroom3 C T 5: 93,090,864 (GRCm39) P1124S probably benign Het
Sirt4 A G 5: 115,617,705 (GRCm39) V317A probably benign Het
Skic3 T C 13: 76,266,466 (GRCm39) Y238H probably damaging Het
Slc12a2 G T 18: 58,029,426 (GRCm39) A271S probably benign Het
Slc6a9 A G 4: 117,721,210 (GRCm39) Y208C probably damaging Het
Snap23 T A 2: 120,414,752 (GRCm39) probably benign Het
Sra1 C T 18: 36,803,226 (GRCm39) probably benign Het
Srbd1 C T 17: 86,428,157 (GRCm39) D359N possibly damaging Het
Srp19 A G 18: 34,464,826 (GRCm39) Y22C probably damaging Het
Sstr4 T C 2: 148,238,003 (GRCm39) S205P probably damaging Het
Sv2b T C 7: 74,773,962 (GRCm39) D503G possibly damaging Het
Tbc1d30 C T 10: 121,103,479 (GRCm39) V518M probably damaging Het
Tlr4 A G 4: 66,758,652 (GRCm39) K482E probably benign Het
Tpm1 G A 9: 66,930,694 (GRCm39) L310F probably damaging Het
Trpm6 A G 19: 18,830,981 (GRCm39) Y1282C probably damaging Het
Tsc22d1 T A 14: 76,742,757 (GRCm39) L65* probably null Het
Ttc39c C A 18: 12,830,992 (GRCm39) A284D probably damaging Het
Txndc16 G A 14: 45,403,221 (GRCm39) H297Y probably benign Het
Utrn A T 10: 12,545,550 (GRCm39) D1698E probably benign Het
Vmn1r232 C T 17: 21,133,601 (GRCm39) R333H probably benign Het
Vmn2r14 A T 5: 109,365,486 (GRCm39) D529E possibly damaging Het
Vmn2r70 C T 7: 85,208,315 (GRCm39) V721I probably damaging Het
Zbtb18 A G 1: 177,276,119 (GRCm39) H484R probably damaging Het
Zc3h13 T A 14: 75,568,269 (GRCm39) S1187R possibly damaging Het
Zfhx4 T A 3: 5,468,381 (GRCm39) D2846E probably benign Het
Other mutations in CN725425
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01541:CN725425 APN 15 91,129,955 (GRCm39) missense possibly damaging 0.71
IGL02176:CN725425 APN 15 91,130,024 (GRCm39) missense probably benign
3-1:CN725425 UTSW 15 91,144,724 (GRCm39) missense possibly damaging 0.52
R0449:CN725425 UTSW 15 91,123,147 (GRCm39) missense possibly damaging 0.73
R0554:CN725425 UTSW 15 91,144,966 (GRCm39) missense possibly damaging 0.86
R1442:CN725425 UTSW 15 91,123,158 (GRCm39) missense possibly damaging 0.96
R1670:CN725425 UTSW 15 91,130,018 (GRCm39) missense possibly damaging 0.86
R1674:CN725425 UTSW 15 91,131,124 (GRCm39) missense possibly damaging 0.93
R2425:CN725425 UTSW 15 91,130,058 (GRCm39) missense probably damaging 0.97
R3966:CN725425 UTSW 15 91,126,890 (GRCm39) critical splice donor site probably null
R4959:CN725425 UTSW 15 91,129,904 (GRCm39) missense possibly damaging 0.92
R4973:CN725425 UTSW 15 91,129,904 (GRCm39) missense possibly damaging 0.92
R5506:CN725425 UTSW 15 91,120,029 (GRCm39) missense possibly damaging 0.85
R5512:CN725425 UTSW 15 91,124,959 (GRCm39) missense probably benign
R5808:CN725425 UTSW 15 91,129,847 (GRCm39) missense probably benign 0.32
R5820:CN725425 UTSW 15 91,144,900 (GRCm39) missense possibly damaging 0.71
R5945:CN725425 UTSW 15 91,129,980 (GRCm39) missense possibly damaging 0.86
R6366:CN725425 UTSW 15 91,131,124 (GRCm39) missense possibly damaging 0.93
R6441:CN725425 UTSW 15 91,120,005 (GRCm39) missense probably benign 0.33
R6484:CN725425 UTSW 15 91,144,775 (GRCm39) missense probably benign 0.32
R6523:CN725425 UTSW 15 91,115,784 (GRCm39) missense probably benign 0.01
R6721:CN725425 UTSW 15 91,115,821 (GRCm39) missense possibly damaging 0.53
R6901:CN725425 UTSW 15 91,124,966 (GRCm39) missense possibly damaging 0.93
R7341:CN725425 UTSW 15 91,126,873 (GRCm39) missense possibly damaging 0.96
R7654:CN725425 UTSW 15 91,123,638 (GRCm39) missense probably benign 0.04
R7704:CN725425 UTSW 15 91,119,993 (GRCm39) missense possibly damaging 0.86
R7709:CN725425 UTSW 15 91,124,930 (GRCm39) missense probably benign
R7880:CN725425 UTSW 15 91,130,308 (GRCm39) nonsense probably null
R8371:CN725425 UTSW 15 91,124,973 (GRCm39) missense probably benign 0.33
R8964:CN725425 UTSW 15 91,119,972 (GRCm39) missense possibly damaging 0.53
R8968:CN725425 UTSW 15 91,130,090 (GRCm39) missense possibly damaging 0.86
R9505:CN725425 UTSW 15 91,124,867 (GRCm39) missense possibly damaging 0.86
R9632:CN725425 UTSW 15 91,126,851 (GRCm39) missense possibly damaging 0.53
R9689:CN725425 UTSW 15 91,120,030 (GRCm39) missense possibly damaging 0.70
Z1088:CN725425 UTSW 15 91,129,965 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGTGGGAGAGCCTTCGACTAATC -3'
(R):5'- GCCTGAAGCACACAGTTATCAG -3'

Sequencing Primer
(F):5'- GAGAGCCTTCGACTAATCTTTGATG -3'
(R):5'- GCACACAGTTATCAGTGCTTTTG -3'
Posted On 2017-01-03