Incidental Mutation 'IGL00816:D1Pas1'
ID13401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D1Pas1
Ensembl Gene ENSMUSG00000039224
Gene NameDNA segment, Chr 1, Pasteur Institute 1
SynonymsPl10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00816
Quality Score
Status
Chromosome1
Chromosomal Location186967416-186970627 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 186969412 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 513 (I513V)
Ref Sequence ENSEMBL: ENSMUSP00000035261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045108]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045108
AA Change: I513V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035261
Gene: ENSMUSG00000039224
AA Change: I513V

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 80 102 N/A INTRINSIC
low complexity region 104 122 N/A INTRINSIC
DEXDc 198 417 9.08e-66 SMART
HELICc 454 535 1.23e-35 SMART
low complexity region 580 596 N/A INTRINSIC
low complexity region 598 654 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191895
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,397,203 D5654E probably benign Het
Alg6 A G 4: 99,742,361 S146G probably null Het
Anks1 T C 17: 28,059,393 probably null Het
Bcor T C X: 12,037,820 I1662V probably damaging Het
Bzw1 T C 1: 58,399,054 F98L probably damaging Het
Cdc14b A G 13: 64,205,403 V453A probably benign Het
Copg1 G T 6: 87,893,898 A228S possibly damaging Het
Efemp1 G A 11: 28,926,223 V463M probably benign Het
Ep400 T A 5: 110,735,490 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fgd3 A G 13: 49,264,786 probably benign Het
Furin C A 7: 80,392,567 G427W probably damaging Het
Glycam1 T G 15: 103,564,232 D25A probably damaging Het
Gpr119 A G X: 48,674,170 L30P probably damaging Het
Gria1 T A 11: 57,317,742 M752K possibly damaging Het
Mcph1 C T 8: 18,632,397 P517S possibly damaging Het
Mug1 T A 6: 121,882,638 Y1199N probably damaging Het
Myt1 A G 2: 181,807,515 D663G probably damaging Het
Ppp1r1c A T 2: 79,709,897 probably null Het
Rab1a C T 11: 20,224,727 T100M possibly damaging Het
Rfx6 A G 10: 51,678,405 K114R probably benign Het
Rmdn1 T C 4: 19,595,119 V177A probably benign Het
Setd5 T G 6: 113,111,414 L168V probably damaging Het
Slc25a10 A T 11: 120,495,150 probably benign Het
Slc38a7 A T 8: 95,844,120 I252N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Taar8c A T 10: 24,101,275 I213N probably damaging Het
Tagln3 A T 16: 45,724,193 C38* probably null Het
Tmcc2 C A 1: 132,380,698 A153S probably benign Het
Tuft1 A T 3: 94,615,831 I291N probably damaging Het
Vmn2r10 T A 5: 109,002,585 M198L possibly damaging Het
Vps13d T A 4: 145,155,994 M1004L probably benign Het
Wfdc3 T C 2: 164,743,025 probably benign Het
Wfikkn2 G A 11: 94,238,095 Q407* probably null Het
Zfp106 T C 2: 120,526,848 I1189V probably benign Het
Zic2 T A 14: 122,478,559 C364* probably null Het
Other mutations in D1Pas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:D1Pas1 APN 1 186968786 missense probably benign 0.44
R1693:D1Pas1 UTSW 1 186968029 missense probably benign
R2029:D1Pas1 UTSW 1 186968089 missense possibly damaging 0.53
R3732:D1Pas1 UTSW 1 186968097 missense probably benign 0.00
R3732:D1Pas1 UTSW 1 186968097 missense probably benign 0.00
R3733:D1Pas1 UTSW 1 186968097 missense probably benign 0.00
R3930:D1Pas1 UTSW 1 186968280 missense probably damaging 1.00
R5302:D1Pas1 UTSW 1 186969445 missense probably damaging 1.00
R5815:D1Pas1 UTSW 1 186968009 missense probably damaging 1.00
R6705:D1Pas1 UTSW 1 186968379 missense probably benign 0.00
R7023:D1Pas1 UTSW 1 186968008 missense probably damaging 0.96
R7747:D1Pas1 UTSW 1 186968677 missense probably benign 0.08
R7862:D1Pas1 UTSW 1 186968152 missense probably damaging 1.00
Posted On2012-12-06