Incidental Mutation 'IGL01820:Cnppd1'
ID154517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnppd1
Ensembl Gene ENSMUSG00000033159
Gene Namecyclin Pas1/PHO80 domain containing 1
Synonyms1810031K17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01820
Quality Score
Status
Chromosome1
Chromosomal Location75134554-75142711 bp(-) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to T at 75139592 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041213] [ENSMUST00000097694] [ENSMUST00000168720] [ENSMUST00000187901] [ENSMUST00000188873] [ENSMUST00000189403] [ENSMUST00000189650] [ENSMUST00000190679] [ENSMUST00000189809] [ENSMUST00000190240]
Predicted Effect probably benign
Transcript: ENSMUST00000041213
AA Change: H116Q

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000044799
Gene: ENSMUSG00000033159
AA Change: H116Q

DomainStartEndE-ValueType
Pfam:Cyclin 72 174 7.5e-10 PFAM
low complexity region 231 252 N/A INTRINSIC
low complexity region 256 268 N/A INTRINSIC
low complexity region 310 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097694
SMART Domains Protein: ENSMUSP00000095300
Gene: ENSMUSG00000049339

DomainStartEndE-ValueType
low complexity region 1 28 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
low complexity region 84 114 N/A INTRINSIC
transmembrane domain 198 220 N/A INTRINSIC
low complexity region 269 283 N/A INTRINSIC
low complexity region 453 491 N/A INTRINSIC
low complexity region 506 520 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168720
AA Change: H116Q

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132688
Gene: ENSMUSG00000033159
AA Change: H116Q

DomainStartEndE-ValueType
Pfam:Cyclin 49 174 5.2e-13 PFAM
Pfam:Cyclin_N 55 175 4.4e-6 PFAM
low complexity region 231 252 N/A INTRINSIC
low complexity region 256 268 N/A INTRINSIC
low complexity region 310 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187888
Predicted Effect probably benign
Transcript: ENSMUST00000187901
SMART Domains Protein: ENSMUSP00000140636
Gene: ENSMUSG00000049339

DomainStartEndE-ValueType
low complexity region 12 39 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188037
Predicted Effect probably benign
Transcript: ENSMUST00000188873
SMART Domains Protein: ENSMUSP00000139508
Gene: ENSMUSG00000049339

DomainStartEndE-ValueType
low complexity region 1 28 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
low complexity region 84 114 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189043
Predicted Effect probably benign
Transcript: ENSMUST00000189403
AA Change: H116Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141062
Gene: ENSMUSG00000033159
AA Change: H116Q

DomainStartEndE-ValueType
Pfam:Cyclin 44 170 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189650
SMART Domains Protein: ENSMUSP00000139473
Gene: ENSMUSG00000049339

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 45 75 N/A INTRINSIC
low complexity region 123 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190679
AA Change: H116Q

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140289
Gene: ENSMUSG00000033159
AA Change: H116Q

DomainStartEndE-ValueType
Pfam:Cyclin 49 174 5.2e-13 PFAM
Pfam:Cyclin_N 55 175 4.4e-6 PFAM
low complexity region 231 252 N/A INTRINSIC
low complexity region 256 268 N/A INTRINSIC
low complexity region 310 331 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000189809
SMART Domains Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159

DomainStartEndE-ValueType
Blast:CYCLIN 81 114 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000190240
SMART Domains Protein: ENSMUSP00000139410
Gene: ENSMUSG00000049339

DomainStartEndE-ValueType
low complexity region 1 28 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
Pfam:Reticulon 65 231 1.4e-8 PFAM
low complexity region 269 283 N/A INTRINSIC
low complexity region 435 454 N/A INTRINSIC
low complexity region 469 483 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,715,896 probably benign Het
Adcy2 T C 13: 68,738,545 probably null Het
Akna G T 4: 63,386,258 T553N probably benign Het
Boc A G 16: 44,491,872 I609T possibly damaging Het
Btbd9 C T 17: 30,527,409 V148I possibly damaging Het
Cacna1d A T 14: 30,042,866 I2049N possibly damaging Het
Cdhr1 A T 14: 37,085,579 M368K probably benign Het
Cftr A G 6: 18,226,139 Y362C probably damaging Het
Col3a1 T C 1: 45,321,608 I66T unknown Het
Col5a2 C A 1: 45,442,825 M46I unknown Het
Csmd3 G T 15: 47,607,142 C3379* probably null Het
Ctla2b T A 13: 60,896,689 *28C probably null Het
Ddhd2 C T 8: 25,749,754 E33K possibly damaging Het
Dock3 T C 9: 106,895,893 H387R probably damaging Het
Dyrk1b T A 7: 28,181,600 probably benign Het
Fam131c T C 4: 141,380,337 C53R probably damaging Het
Fat1 T A 8: 45,010,502 F1360L probably damaging Het
Gm10320 G T 13: 98,489,537 S113* probably null Het
Ifih1 T C 2: 62,617,313 D349G probably damaging Het
Il12a T C 3: 68,692,162 probably benign Het
Ivl A T 3: 92,571,633 M375K possibly damaging Het
Krt82 C A 15: 101,543,452 probably benign Het
Mc4r C T 18: 66,859,155 V296I probably benign Het
Met T A 6: 17,534,231 I691N possibly damaging Het
Mycbp2 A T 14: 103,188,501 I2396K probably damaging Het
Napg C A 18: 62,986,445 Q135K probably benign Het
Nf2 A T 11: 4,789,655 probably null Het
Nrxn1 G T 17: 90,643,103 H549Q probably damaging Het
P4ha1 T A 10: 59,361,914 I321K probably damaging Het
Prl5a1 T C 13: 28,148,700 S94P probably benign Het
Prnp T C 2: 131,937,070 V214A probably benign Het
Ptprc A T 1: 138,066,198 F1165I probably damaging Het
Rdh10 T C 1: 16,128,259 V207A possibly damaging Het
Rel A T 11: 23,753,218 N131K probably benign Het
Rgs14 A T 13: 55,383,525 D448V probably benign Het
Spag5 T G 11: 78,304,259 S131A probably benign Het
Styxl1 C T 5: 135,765,750 D88N probably damaging Het
Tlr3 C T 8: 45,398,339 R507H probably benign Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Txlnb T C 10: 17,806,858 probably null Het
Unc13a A G 8: 71,654,947 V567A probably damaging Het
Vmn1r8 T C 6: 57,036,668 S235P possibly damaging Het
Vmn2r51 T A 7: 10,105,482 N60Y probably damaging Het
Wbp1l T A 19: 46,652,483 L68Q probably damaging Het
Wdfy3 A T 5: 101,924,081 V981E probably benign Het
Zdhhc13 T C 7: 48,808,865 S316P probably damaging Het
Zfp516 C T 18: 82,987,361 R797C probably benign Het
Zp3r A G 1: 130,598,920 V182A probably benign Het
Other mutations in Cnppd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0279:Cnppd1 UTSW 1 75136929 missense probably damaging 0.97
R4843:Cnppd1 UTSW 1 75136442 missense probably benign
R5860:Cnppd1 UTSW 1 75136487 missense probably benign
R6622:Cnppd1 UTSW 1 75136895 missense probably damaging 1.00
R7301:Cnppd1 UTSW 1 75136424 missense probably damaging 1.00
Z1176:Cnppd1 UTSW 1 75140951 missense probably damaging 1.00
Posted On2014-02-04