Incidental Mutation 'R5302:D1Pas1'
ID 404282
Institutional Source Beutler Lab
Gene Symbol D1Pas1
Ensembl Gene ENSMUSG00000039224
Gene Name DNA segment, Chr 1, Pasteur Institute 1
Synonyms Pl10
MMRRC Submission 042885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5302 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 186699613-186702824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 186701642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 524 (Y524N)
Ref Sequence ENSEMBL: ENSMUSP00000035261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045108]
AlphaFold P16381
Predicted Effect probably damaging
Transcript: ENSMUST00000045108
AA Change: Y524N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035261
Gene: ENSMUSG00000039224
AA Change: Y524N

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D possibly damaging Het
Other mutations in D1Pas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:D1Pas1 APN 1 186,701,609 (GRCm39) missense possibly damaging 0.55
IGL00921:D1Pas1 APN 1 186,700,983 (GRCm39) missense probably benign 0.44
R1693:D1Pas1 UTSW 1 186,700,226 (GRCm39) missense probably benign
R2029:D1Pas1 UTSW 1 186,700,286 (GRCm39) missense possibly damaging 0.53
R3732:D1Pas1 UTSW 1 186,700,294 (GRCm39) missense probably benign 0.00
R3732:D1Pas1 UTSW 1 186,700,294 (GRCm39) missense probably benign 0.00
R3733:D1Pas1 UTSW 1 186,700,294 (GRCm39) missense probably benign 0.00
R3930:D1Pas1 UTSW 1 186,700,477 (GRCm39) missense probably damaging 1.00
R5815:D1Pas1 UTSW 1 186,700,206 (GRCm39) missense probably damaging 1.00
R6705:D1Pas1 UTSW 1 186,700,576 (GRCm39) missense probably benign 0.00
R7023:D1Pas1 UTSW 1 186,700,205 (GRCm39) missense probably damaging 0.96
R7747:D1Pas1 UTSW 1 186,700,874 (GRCm39) missense probably benign 0.08
R7862:D1Pas1 UTSW 1 186,700,349 (GRCm39) missense probably damaging 1.00
R8410:D1Pas1 UTSW 1 186,700,512 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAAGGGTGCAGATTCTCTGG -3'
(R):5'- ACTGCCACCCTTGTAATGG -3'

Sequencing Primer
(F):5'- CTGGAGGACTTCTTATACCACGAAG -3'
(R):5'- CCCTTGTAATGGTGTTCAAAAGCC -3'
Posted On 2016-07-22