Incidental Mutation 'R7654:CN725425'
ID 591094
Institutional Source Beutler Lab
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
MMRRC Submission 045702-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R7654 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 91083697-91145097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91123638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 118 (I118N)
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: I111N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: I111N

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: I118N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: I118N

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,815,032 (GRCm39) V1140M possibly damaging Het
Adamtsl3 A C 7: 82,223,702 (GRCm39) E1161A probably benign Het
Adcy5 T C 16: 35,091,317 (GRCm39) S587P probably damaging Het
Aebp2 T A 6: 140,599,474 (GRCm39) probably null Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Ankhd1 T C 18: 36,727,154 (GRCm39) V423A probably damaging Het
Arid1b T A 17: 5,341,360 (GRCm39) M888K possibly damaging Het
Asl C A 5: 130,047,231 (GRCm39) R122S probably damaging Het
B3gntl1 T A 11: 121,542,439 (GRCm39) D109V probably damaging Het
Cat G A 2: 103,290,709 (GRCm39) P402S probably damaging Het
Ccdc141 A T 2: 76,872,822 (GRCm39) Y787N probably benign Het
Ccdc78 T C 17: 26,009,085 (GRCm39) Y405H probably damaging Het
Ces1f T G 8: 93,998,562 (GRCm39) K145Q probably benign Het
Cfap65 A T 1: 74,972,303 (GRCm39) C19S probably benign Het
Ctc1 C T 11: 68,917,041 (GRCm39) P312S probably damaging Het
Ctsa C T 2: 164,680,853 (GRCm39) T442I probably benign Het
Cyp2b9 A G 7: 25,886,367 (GRCm39) T131A possibly damaging Het
D630045J12Rik A G 6: 38,154,636 (GRCm39) M1181T probably damaging Het
Dagla C G 19: 10,225,570 (GRCm39) G865R probably benign Het
Dst A C 1: 34,268,058 (GRCm39) K3153Q probably damaging Het
Dst A T 1: 34,268,059 (GRCm39) K3153M probably damaging Het
Dync2h1 A T 9: 7,122,664 (GRCm39) H2097Q probably damaging Het
Etnppl A G 3: 130,423,160 (GRCm39) I286M probably benign Het
Flvcr1 A T 1: 190,743,802 (GRCm39) M418K possibly damaging Het
Fuca1 T C 4: 135,657,232 (GRCm39) S215P probably damaging Het
Gabrg1 T C 5: 70,935,504 (GRCm39) K222E probably benign Het
Gdpd5 G A 7: 99,073,396 (GRCm39) R26H probably damaging Het
Gnptab T A 10: 88,281,681 (GRCm39) S1229R possibly damaging Het
Gpt A G 15: 76,582,530 (GRCm39) E256G probably benign Het
Hif3a C T 7: 16,783,021 (GRCm39) V261I probably damaging Het
Hmcn2 A G 2: 31,236,581 (GRCm39) T375A probably benign Het
Hspa4 C A 11: 53,190,951 (GRCm39) V15F probably damaging Het
Il18 A G 9: 50,490,701 (GRCm39) N112S possibly damaging Het
Inpp4a A G 1: 37,413,179 (GRCm39) probably null Het
Knop1 A G 7: 118,445,032 (GRCm39) S525P unknown Het
Leo1 A T 9: 75,362,961 (GRCm39) Y461F possibly damaging Het
Med1 C T 11: 98,060,189 (GRCm39) V247I possibly damaging Het
Mpnd T G 17: 56,317,489 (GRCm39) H159Q probably benign Het
Msl1 A G 11: 98,686,937 (GRCm39) E94G possibly damaging Het
Mthfd2l A T 5: 91,094,665 (GRCm39) I45F probably damaging Het
Neurl1b T A 17: 26,657,671 (GRCm39) L203Q probably benign Het
Or5m12 G T 2: 85,734,663 (GRCm39) T245N possibly damaging Het
Otoa T G 7: 120,746,923 (GRCm39) L896R probably damaging Het
Pcdhac2 T A 18: 37,278,076 (GRCm39) V352E probably damaging Het
Pcsk5 T A 19: 17,434,168 (GRCm39) K1400I possibly damaging Het
Pcx T A 19: 4,565,697 (GRCm39) probably null Het
Pds5a A G 5: 65,776,324 (GRCm39) V90A probably damaging Het
Pgam2 T C 11: 5,753,351 (GRCm39) K113R probably null Het
Phkb G T 8: 86,667,516 (GRCm39) R266L possibly damaging Het
Phtf2 A G 5: 20,987,459 (GRCm39) S346P probably damaging Het
Pkd1l3 G A 8: 110,365,049 (GRCm39) A1144T probably damaging Het
Plbd1 T C 6: 136,628,864 (GRCm39) Y68C possibly damaging Het
Polk T C 13: 96,633,321 (GRCm39) T241A probably benign Het
Ppfibp2 T A 7: 107,337,818 (GRCm39) D635E probably damaging Het
Ppip5k1 G A 2: 121,179,040 (GRCm39) R229W probably damaging Het
Ptpn20 A G 14: 33,360,281 (GRCm39) D386G probably benign Het
Rab22a T C 2: 173,529,968 (GRCm39) Y49H probably benign Het
Rab3gap1 A G 1: 127,837,652 (GRCm39) D238G probably damaging Het
Rbp3 T C 14: 33,677,797 (GRCm39) S582P probably benign Het
Rcbtb2 T C 14: 73,411,941 (GRCm39) V410A probably benign Het
Sh3rf2 A G 18: 42,237,173 (GRCm39) E232G probably damaging Het
Shroom1 T A 11: 53,357,735 (GRCm39) V762E probably benign Het
Speer4f2 A T 5: 17,579,413 (GRCm39) M71L Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Tgfb1 A T 7: 25,387,120 (GRCm39) probably benign Het
Tnik C T 3: 28,658,334 (GRCm39) R540C probably damaging Het
Tti1 A T 2: 157,850,474 (GRCm39) I255N probably benign Het
Ttn T C 2: 76,727,490 (GRCm39) S5739G unknown Het
Umad1 G A 6: 8,426,995 (GRCm39) V57M probably damaging Het
Usp30 T A 5: 114,240,506 (GRCm39) I49N probably damaging Het
Usp7 G A 16: 8,519,907 (GRCm39) T398I probably benign Het
Vmn2r65 A G 7: 84,590,261 (GRCm39) Y552H probably damaging Het
Zfp616 A G 11: 73,974,013 (GRCm39) N185S possibly damaging Het
Zfp804b T A 5: 6,819,458 (GRCm39) T1202S probably damaging Het
Zfyve28 A T 5: 34,400,539 (GRCm39) V53D probably 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
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
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'- GGCTTTGTGCATACGCTCTG -3'
(R):5'- CCACAGTGGCTACATAATCAGAG -3'

Sequencing Primer
(F):5'- GCTCTGACTTTTCCTATTAAAATGC -3'
(R):5'- CCTACATTGGAAAAATTGTGAAA -3'
Posted On 2019-11-12