Incidental Mutation 'R5820:CN725425'
ID 449896
Institutional Source Beutler Lab
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
MMRRC Submission 043400-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R5820 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 91083697-91145097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91144900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 588 (T588A)
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: T581A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: T581A

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: T588A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: T588A

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,841,607 (GRCm39) Y596H probably benign Het
Adgrg3 A T 8: 95,766,221 (GRCm39) M351L possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef38 A T 3: 132,866,560 (GRCm39) D192E probably benign Het
Arhgef40 T C 14: 52,224,953 (GRCm39) F33L possibly damaging Het
Arid1b A G 17: 5,046,529 (GRCm39) Y439C possibly damaging Het
Bltp1 T C 3: 37,093,675 (GRCm39) V875A probably benign Het
Bop1 G A 15: 76,339,041 (GRCm39) P386S probably damaging Het
Cacna1s A G 1: 136,007,342 (GRCm39) H453R probably damaging Het
Canx A G 11: 50,199,210 (GRCm39) V153A probably damaging Het
Chfr T A 5: 110,310,605 (GRCm39) D475E possibly damaging Het
Clcn7 A C 17: 25,368,026 (GRCm39) K208T probably damaging Het
Cmya5 G T 13: 93,229,288 (GRCm39) N1933K probably benign Het
Cwh43 G A 5: 73,585,975 (GRCm39) W358* probably null Het
Cyfip2 A T 11: 46,091,531 (GRCm39) W1130R probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Disp1 T C 1: 182,917,151 (GRCm39) S92G probably benign Het
Dusp6 A G 10: 99,099,864 (GRCm39) D104G possibly damaging Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Ecscr C A 18: 35,850,320 (GRCm39) V52F possibly damaging Het
Epha7 A T 4: 28,949,365 (GRCm39) N712I probably damaging Het
Eva1a C T 6: 82,048,154 (GRCm39) P11S probably benign Het
Fam187b T C 7: 30,676,577 (GRCm39) C29R probably damaging Het
Fau T C 19: 6,109,452 (GRCm39) V117A probably benign Het
Fbxw11 A G 11: 32,685,374 (GRCm39) D369G probably damaging Het
Fkbp15 A G 4: 62,263,783 (GRCm39) F95L probably benign Het
Fkbp6 A T 5: 135,368,774 (GRCm39) probably null Het
Fmo9 T C 1: 166,492,170 (GRCm39) K367E possibly damaging Het
Gad2 T C 2: 22,580,261 (GRCm39) V554A probably benign Het
Gm18025 T C 12: 34,340,631 (GRCm39) D154G probably benign Het
Gm4353 A G 7: 115,683,693 (GRCm39) F34S possibly damaging Het
Gucy2e A G 11: 69,123,522 (GRCm39) I459T probably benign Het
Hpx A G 7: 105,240,995 (GRCm39) I426T possibly damaging Het
Hspa9 T C 18: 35,076,227 (GRCm39) T362A possibly damaging Het
Insr G A 8: 3,205,976 (GRCm39) P1271L probably damaging Het
Jarid2 G A 13: 45,055,777 (GRCm39) V328I possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif18b A G 11: 102,803,874 (GRCm39) S429P probably benign Het
Lats1 A T 10: 7,581,672 (GRCm39) H819L probably damaging Het
Lmnb1 T A 18: 56,873,858 (GRCm39) D421E possibly damaging Het
Lrp4 T C 2: 91,322,960 (GRCm39) I1148T probably damaging Het
Map1b T A 13: 99,569,332 (GRCm39) M1130L unknown Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Myh6 T C 14: 55,196,137 (GRCm39) Y554C probably damaging Het
Myl4 T C 11: 104,474,806 (GRCm39) F52L probably damaging Het
Nol12 C T 15: 78,824,680 (GRCm39) T169I probably benign Het
Nrde2 C T 12: 100,098,546 (GRCm39) R707H probably benign Het
Oasl1 G A 5: 115,075,037 (GRCm39) V366M possibly damaging Het
Or8b47 T C 9: 38,435,895 (GRCm39) I289T possibly damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Polrmt C T 10: 79,574,157 (GRCm39) probably null Het
Ppil4 A G 10: 7,686,174 (GRCm39) D344G probably null Het
Ppp2r3d C T 9: 124,422,765 (GRCm38) A69T possibly damaging Het
Prmt3 C T 7: 49,498,554 (GRCm39) P487S probably damaging Het
Ptprm A T 17: 66,996,460 (GRCm39) L1209H probably damaging Het
Rnf115 G A 3: 96,635,164 (GRCm39) probably benign Het
Sec63 A G 10: 42,672,241 (GRCm39) D185G possibly damaging Het
Sema4b T C 7: 79,874,706 (GRCm39) S699P probably damaging Het
Serpinb3d T G 1: 107,006,089 (GRCm39) E333A probably damaging Het
Sh3rf2 T C 18: 42,274,112 (GRCm39) L426P possibly damaging Het
Slco6d1 A G 1: 98,427,503 (GRCm39) I611M probably damaging Het
Stk31 T A 6: 49,394,219 (GRCm39) Y194N probably damaging Het
Tlr9 G A 9: 106,099,906 (GRCm39) probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn1r188 G A 13: 22,272,256 (GRCm39) G70D possibly damaging Het
Zfp318 A G 17: 46,723,699 (GRCm39) M1901V probably benign Het
Zfp407 A T 18: 84,578,649 (GRCm39) D821E 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
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
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'- TAACTGTGAAAGACGATGCCAC -3'
(R):5'- TGAAACACTGCTTCCTAGTTGG -3'

Sequencing Primer
(F):5'- GTGAAAGACGATGCCACAGCTC -3'
(R):5'- TCCTAGTTGGAAATGTTAGAGTGAG -3'
Posted On 2016-12-20