Incidental Mutation 'R6901:CN725425'
ID 538558
Institutional Source Beutler Lab
Gene Symbol CN725425
Ensembl Gene ENSMUSG00000078932
Gene Name cDNA sequence CN725425
Synonyms Gm5807
MMRRC Submission 044995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R6901 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 91083697-91145097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91124966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 169 (P169T)
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: P162T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: P162T

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: P169T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: P169T

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
Pfam:DUF4552 226 650 1.4e-184 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T A 9: 122,197,220 (GRCm39) S136T probably benign Het
Anxa10 T C 8: 62,549,816 (GRCm39) T10A probably damaging Het
Ap3b1 A G 13: 94,554,650 (GRCm39) E262G probably benign Het
Ap3b2 T C 7: 81,134,660 (GRCm39) probably null Het
Arhgef40 A G 14: 52,234,825 (GRCm39) T1043A probably damaging Het
Arhgef5 T A 6: 43,250,232 (GRCm39) S328T probably benign Het
Arid4a A G 12: 71,113,911 (GRCm39) K166R probably damaging Het
Cdh12 A G 15: 21,583,872 (GRCm39) I571V probably benign Het
Cdh4 G A 2: 179,501,987 (GRCm39) V316I probably benign Het
Cebpg A T 7: 34,750,202 (GRCm39) H20Q probably benign Het
Ces4a G A 8: 105,873,330 (GRCm39) V392I probably benign Het
Cyp2c54 A G 19: 40,058,703 (GRCm39) F243S probably damaging Het
Dkk2 T A 3: 131,880,887 (GRCm39) probably null Het
Dync2h1 A G 9: 7,131,855 (GRCm39) Y1651H probably damaging Het
Dyrk1b T A 7: 27,884,542 (GRCm39) L346Q probably damaging Het
Ephx4 T C 5: 107,561,427 (GRCm39) V85A probably benign Het
Etv6 A G 6: 134,243,421 (GRCm39) E392G probably benign Het
Fli1 T A 9: 32,341,221 (GRCm39) N202I probably benign Het
Gpc6 G T 14: 118,188,629 (GRCm39) R421L possibly damaging Het
Gse1 A G 8: 120,956,561 (GRCm39) probably benign Het
Hdac1-ps A G 17: 78,800,089 (GRCm39) E360G probably benign Het
Hnrnpab T C 11: 51,492,675 (GRCm39) probably benign Het
Hyal4 A G 6: 24,756,190 (GRCm39) E136G probably damaging Het
Ift56 G A 6: 38,378,079 (GRCm39) R297H possibly damaging Het
Kcna3 C T 3: 106,943,884 (GRCm39) A49V probably benign Het
Krt42 C T 11: 100,160,542 (GRCm39) M52I probably benign Het
Lyrm4 A T 13: 36,301,107 (GRCm39) Y13N probably damaging Het
Map2 C T 1: 66,460,932 (GRCm39) S1576L possibly damaging Het
Map3k12 G T 15: 102,409,065 (GRCm39) P817T possibly damaging Het
Map3k12 G T 15: 102,409,064 (GRCm39) P817Q possibly damaging Het
Masp1 T C 16: 23,332,584 (GRCm39) K84E probably damaging Het
Mki67 A T 7: 135,310,489 (GRCm39) probably null Het
Mrap C G 16: 90,546,193 (GRCm39) S94C probably damaging Het
Mybpc2 C A 7: 44,154,779 (GRCm39) C986F probably damaging Het
Nbea A C 3: 55,926,836 (GRCm39) M789R probably damaging Het
Or2ag1b T C 7: 106,288,396 (GRCm39) I181V probably benign Het
Or6b2 G T 1: 92,408,327 (GRCm39) N5K probably damaging Het
Pde4a A G 9: 21,116,266 (GRCm39) N475S probably benign Het
Pex7 C T 10: 19,736,740 (GRCm39) V297I probably benign Het
Pkd1l3 A T 8: 110,341,246 (GRCm39) H33L unknown Het
Prl8a6 A T 13: 27,621,030 (GRCm39) Y67N possibly damaging Het
Rcor1 A T 12: 111,075,322 (GRCm39) E383V probably damaging Het
Slc22a27 A T 19: 7,903,944 (GRCm39) S64R probably damaging Het
Snx7 G A 3: 117,623,285 (GRCm39) Q292* probably null Het
Tgm3 C T 2: 129,883,890 (GRCm39) T516M possibly damaging Het
Trim9 T C 12: 70,393,413 (GRCm39) E177G probably damaging Het
Ttc28 C A 5: 111,424,891 (GRCm39) T1541N possibly damaging Het
Ttc8 T A 12: 98,927,735 (GRCm39) L202H probably damaging Het
Ttll13 T C 7: 79,899,930 (GRCm39) Y90H probably damaging Het
Uba1y T G Y: 825,496 (GRCm39) I286S probably benign Het
Ubxn11 G A 4: 133,853,575 (GRCm39) A125T probably damaging Het
Vmn1r48 A G 6: 90,013,550 (GRCm39) Y92H possibly damaging Het
Vmn1r74 T C 7: 11,581,368 (GRCm39) F223L probably benign Het
Vwa5b1 G A 4: 138,313,880 (GRCm39) T696I probably benign Het
Zfp266 G T 9: 20,410,895 (GRCm39) Y427* probably null Het
Zfp362 C T 4: 128,679,808 (GRCm39) C273Y probably damaging Het
Zfp385c T C 11: 100,523,585 (GRCm39) N123S probably benign Het
Zfp936 T A 7: 42,839,467 (GRCm39) H311Q 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
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'- GGCTTGCTCTTTCTCAGGACAC -3'
(R):5'- CATTCACCACTGCATTTGGC -3'

Sequencing Primer
(F):5'- TCAGGACACCTCTTCAGTAGC -3'
(R):5'- GCATTTGGCTAGCATCCTGAAAC -3'
Posted On 2018-11-06