Incidental Mutation 'IGL02176:CN725425'
ID 283095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02176
Quality Score
Status
Chromosome 15
Chromosomal Location 91083697-91145097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91130024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 296 (V296I)
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: V289I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: V289I

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: V296I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: V296I

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G T 10: 20,846,815 (GRCm39) R415L probably benign Het
Ankle1 C A 8: 71,858,903 (GRCm39) H45Q probably damaging Het
Anks1b A T 10: 89,878,530 (GRCm39) H113L probably damaging Het
Arhgap33 T A 7: 30,223,476 (GRCm39) H851L possibly damaging Het
Atp12a C T 14: 56,624,636 (GRCm39) S972L probably damaging Het
Atrip T C 9: 108,896,114 (GRCm39) D301G probably benign Het
Bckdk A G 7: 127,505,545 (GRCm39) T223A probably benign Het
C3 C A 17: 57,533,337 (GRCm39) probably benign Het
C8g A G 2: 25,389,122 (GRCm39) S154P probably damaging Het
Casz1 A G 4: 149,019,076 (GRCm39) D459G probably damaging Het
Cdca7 A G 2: 72,314,988 (GRCm39) T293A probably damaging Het
Cmya5 T A 13: 93,226,658 (GRCm39) D2810V probably damaging Het
Col17a1 A G 19: 47,639,658 (GRCm39) M1077T probably benign Het
Ddhd1 A T 14: 45,854,057 (GRCm39) H426Q probably damaging Het
Dpp6 C T 5: 27,928,575 (GRCm39) T799M probably damaging Het
Efs C T 14: 55,158,499 (GRCm39) G53D probably damaging Het
Fer1l4 A G 2: 155,890,371 (GRCm39) V221A probably benign Het
Gabre G A X: 71,318,259 (GRCm39) Q17* probably null Het
Gpld1 T C 13: 25,168,192 (GRCm39) probably null Het
Gpr107 T A 2: 31,058,858 (GRCm39) V116D probably benign Het
Huwe1 T C X: 150,686,964 (GRCm39) S2283P possibly damaging Het
Ksr1 A G 11: 78,911,617 (GRCm39) S722P probably benign Het
Lmbrd2 A G 15: 9,182,661 (GRCm39) E532G probably damaging Het
Lrfn1 T C 7: 28,158,111 (GRCm39) probably benign Het
Lrrc4c A G 2: 97,460,598 (GRCm39) D408G probably damaging Het
Mbp A G 18: 82,572,670 (GRCm39) E122G probably damaging Het
Myo9a T A 9: 59,777,836 (GRCm39) D1197E probably benign Het
Ncor1 A T 11: 62,220,485 (GRCm39) probably benign Het
Or2y17 A G 11: 49,232,133 (GRCm39) Y258C probably benign Het
Pdcd1lg2 A G 19: 29,414,732 (GRCm39) E53G probably benign Het
Phex G T X: 156,051,489 (GRCm39) A469E probably damaging Het
Pigo A G 4: 43,019,352 (GRCm39) S957P probably benign Het
Ppargc1b T A 18: 61,443,946 (GRCm39) R406* probably null Het
Ppargc1b C A 18: 61,443,945 (GRCm39) R422I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Thnsl1 G T 2: 21,216,665 (GRCm39) A140S possibly damaging Het
Tm9sf3 A G 19: 41,235,076 (GRCm39) probably benign Het
Tma7 T A 9: 108,911,153 (GRCm39) probably benign Het
Tmtc2 T G 10: 105,184,354 (GRCm39) S514R probably benign Het
Unc79 G A 12: 102,965,006 (GRCm39) probably null Het
Wdr89 A T 12: 75,679,897 (GRCm39) I119N probably damaging Het
Wiz C A 17: 32,575,876 (GRCm39) R843S probably damaging Het
Zfp275 T A X: 72,396,889 (GRCm39) S12T probably damaging Het
Other mutations in CN725425
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01541:CN725425 APN 15 91,129,955 (GRCm39) missense possibly damaging 0.71
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
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
Posted On 2015-04-16