Incidental Mutation 'R6441:CN725425'
ID 519032
Institutional Source Beutler Lab
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
MMRRC Submission 044579-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R6441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 91083697-91145097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91120005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 42 (V42A)
Ref Sequence ENSEMBL: ENSMUSP00000140772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109284] [ENSMUST00000190436]
AlphaFold A0A087WRU1
Predicted Effect probably benign
Transcript: ENSMUST00000109284
AA Change: V35A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: V35A

DomainStartEndE-ValueType
low complexity region 21 41 N/A INTRINSIC
Pfam:DUF4552 219 643 2.7e-202 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190436
AA Change: V42A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: V42A

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Meta Mutation Damage Score 0.1069 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,565,108 (GRCm39) M1047K probably benign Het
Apob A T 12: 8,037,796 (GRCm39) D322V probably damaging Het
Capn12 T A 7: 28,587,427 (GRCm39) C438S probably benign Het
Cdh23 A T 10: 60,143,815 (GRCm39) V2932E probably damaging Het
Cdh9 A T 15: 16,823,509 (GRCm39) T164S probably benign Het
Cimap1a T C 7: 140,429,161 (GRCm39) S149P probably damaging Het
Cpb1 T C 3: 20,303,978 (GRCm39) D362G probably damaging Het
Csmd2 C A 4: 128,288,757 (GRCm39) Q1099K probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Galnt4 A G 10: 98,945,960 (GRCm39) M562V possibly damaging Het
Gtf3c3 T A 1: 54,445,197 (GRCm39) E619V probably benign Het
Gucy2c A T 6: 136,700,759 (GRCm39) M585K probably damaging Het
Hmcn1 A G 1: 150,578,967 (GRCm39) I1993T possibly damaging Het
Lonrf2 T C 1: 38,857,204 (GRCm39) E44G possibly damaging Het
Lrit3 A T 3: 129,594,009 (GRCm39) F189L probably benign Het
Mag T C 7: 30,606,508 (GRCm39) N310D possibly damaging Het
Mccc2 T C 13: 100,091,184 (GRCm39) T151A probably damaging Het
Mybpc1 A T 10: 88,389,139 (GRCm39) S49T probably benign Het
Myh2 A G 11: 67,085,437 (GRCm39) E1787G probably benign Het
Ncapd3 A G 9: 26,974,712 (GRCm39) D728G probably benign Het
Nup37 A G 10: 87,996,799 (GRCm39) E139G probably benign Het
Or52h9 C T 7: 104,202,542 (GRCm39) Q139* probably null Het
Pcdhgb5 A G 18: 37,865,138 (GRCm39) Y311C probably damaging Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Rbm44 A T 1: 91,084,799 (GRCm39) N674Y probably damaging Het
Ryr1 T C 7: 28,759,120 (GRCm39) I3353V possibly damaging Het
Sema3c C T 5: 17,929,130 (GRCm39) T588I possibly damaging Het
Sh2d5 A T 4: 137,986,393 (GRCm39) E372V possibly damaging Het
Slc27a6 C T 18: 58,705,130 (GRCm39) P171S probably benign Het
Slfn3 C T 11: 83,105,740 (GRCm39) T579I probably benign Het
Svil T G 18: 5,049,323 (GRCm39) V287G probably benign Het
Tas1r2 T A 4: 139,396,467 (GRCm39) V602D probably damaging Het
Tln2 A G 9: 67,179,971 (GRCm39) L800P probably damaging Het
Trim31 C A 17: 37,218,683 (GRCm39) Q323K possibly damaging Het
Txndc9 T A 1: 38,029,299 (GRCm39) D183V possibly damaging Het
Vmn2r28 T A 7: 5,491,474 (GRCm39) M258L probably benign Het
Vmn2r75 A T 7: 85,820,784 (GRCm39) I50N probably damaging Het
Zgrf1 A T 3: 127,381,683 (GRCm39) N1161Y possibly damaging 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
R5726:CN725425 UTSW 15 91,144,706 (GRCm39) missense possibly damaging 0.85
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
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'- AGTCTTTCGGCAAGCTACAAGC -3'
(R):5'- GCTAAGCTTATACTTTGAGTTCTGG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- CTGGAATTTCTACCCAATTACATGGC -3'
Posted On 2018-05-24