Incidental Mutation 'IGL01818:Minar1'
ID 154450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Minar1
Ensembl Gene ENSMUSG00000039313
Gene Name membrane integral NOTCH2 associated receptor 1
Synonyms DD1, AF529169
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01818
Quality Score
Status
Chromosome 9
Chromosomal Location 89469269-89505178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89483366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 677 (E677G)
Ref Sequence ENSEMBL: ENSMUSP00000046111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044491] [ENSMUST00000191465]
AlphaFold Q8K3V7
Predicted Effect probably damaging
Transcript: ENSMUST00000044491
AA Change: E677G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046111
Gene: ENSMUSG00000039313
AA Change: E677G

DomainStartEndE-ValueType
low complexity region 508 522 N/A INTRINSIC
Pfam:UPF0258 760 915 8.7e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191465
AA Change: E677G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140942
Gene: ENSMUSG00000039313
AA Change: E677G

DomainStartEndE-ValueType
low complexity region 508 522 N/A INTRINSIC
Pfam:UPF0258 759 854 6.1e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,294,018 (GRCm39) D35G probably benign Het
C3ar1 T C 6: 122,827,378 (GRCm39) N280D probably benign Het
Ccpg1 A G 9: 72,904,735 (GRCm39) T15A probably damaging Het
Chmp7 A G 14: 69,956,616 (GRCm39) V361A probably damaging Het
Dnmbp T A 19: 43,889,604 (GRCm39) K721M probably damaging Het
Elmod3 T C 6: 72,563,490 (GRCm39) E46G possibly damaging Het
Gm4922 T C 10: 18,660,701 (GRCm39) D7G unknown Het
H2-T24 C A 17: 36,328,128 (GRCm39) probably benign Het
Hal A T 10: 93,326,846 (GRCm39) T161S probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Mrps31 T C 8: 22,901,483 (GRCm39) M1T probably null Het
Nckap1l T C 15: 103,386,709 (GRCm39) L628P probably damaging Het
Oosp2 T C 19: 11,627,053 (GRCm39) N90S probably benign Het
Pitpnm3 A G 11: 72,003,077 (GRCm39) probably benign Het
Ppox A T 1: 171,108,318 (GRCm39) I6K probably benign Het
Skint6 G T 4: 112,805,766 (GRCm39) Q690K probably benign Het
Stat1 T C 1: 52,190,437 (GRCm39) I564T probably damaging Het
Tiam1 T A 16: 89,664,592 (GRCm39) I539F probably damaging Het
Tmem191 A G 16: 17,095,594 (GRCm39) R35G possibly damaging Het
Trim30d A T 7: 104,121,267 (GRCm39) C343S probably damaging Het
Trpm3 T C 19: 22,891,838 (GRCm39) L736S probably damaging Het
Vmn2r73 T A 7: 85,519,109 (GRCm39) probably benign Het
Other mutations in Minar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Minar1 APN 9 89,483,853 (GRCm39) missense probably benign 0.02
IGL00163:Minar1 APN 9 89,473,150 (GRCm39) unclassified probably benign
IGL00336:Minar1 APN 9 89,485,196 (GRCm39) missense probably damaging 1.00
IGL01608:Minar1 APN 9 89,478,551 (GRCm39) missense probably benign 0.15
IGL02012:Minar1 APN 9 89,483,491 (GRCm39) missense probably benign 0.01
IGL02259:Minar1 APN 9 89,484,412 (GRCm39) missense possibly damaging 0.93
IGL02894:Minar1 APN 9 89,485,155 (GRCm39) missense probably damaging 0.99
IGL03008:Minar1 APN 9 89,478,731 (GRCm39) missense probably damaging 1.00
IGL02988:Minar1 UTSW 9 89,484,792 (GRCm39) missense probably benign 0.02
R0410:Minar1 UTSW 9 89,484,256 (GRCm39) missense probably damaging 0.97
R0825:Minar1 UTSW 9 89,485,332 (GRCm39) nonsense probably null
R0883:Minar1 UTSW 9 89,484,470 (GRCm39) missense probably benign 0.05
R0989:Minar1 UTSW 9 89,484,088 (GRCm39) missense probably damaging 0.99
R1376:Minar1 UTSW 9 89,473,299 (GRCm39) missense probably damaging 1.00
R1376:Minar1 UTSW 9 89,473,299 (GRCm39) missense probably damaging 1.00
R1632:Minar1 UTSW 9 89,484,413 (GRCm39) missense probably damaging 0.96
R1804:Minar1 UTSW 9 89,485,152 (GRCm39) missense possibly damaging 0.91
R1974:Minar1 UTSW 9 89,483,256 (GRCm39) missense probably damaging 1.00
R2151:Minar1 UTSW 9 89,484,221 (GRCm39) missense possibly damaging 0.53
R2882:Minar1 UTSW 9 89,484,855 (GRCm39) missense possibly damaging 0.86
R2909:Minar1 UTSW 9 89,473,331 (GRCm39) missense probably damaging 1.00
R3961:Minar1 UTSW 9 89,483,963 (GRCm39) missense probably damaging 1.00
R3962:Minar1 UTSW 9 89,483,963 (GRCm39) missense probably damaging 1.00
R3963:Minar1 UTSW 9 89,483,963 (GRCm39) missense probably damaging 1.00
R4676:Minar1 UTSW 9 89,483,606 (GRCm39) missense probably damaging 1.00
R4778:Minar1 UTSW 9 89,485,155 (GRCm39) missense probably damaging 1.00
R4931:Minar1 UTSW 9 89,483,705 (GRCm39) missense probably benign 0.05
R5300:Minar1 UTSW 9 89,485,252 (GRCm39) missense probably damaging 1.00
R5702:Minar1 UTSW 9 89,473,208 (GRCm39) missense probably benign 0.22
R5759:Minar1 UTSW 9 89,483,125 (GRCm39) missense probably benign 0.01
R6187:Minar1 UTSW 9 89,473,220 (GRCm39) missense probably damaging 1.00
R7320:Minar1 UTSW 9 89,483,679 (GRCm39) missense probably benign
R7542:Minar1 UTSW 9 89,483,964 (GRCm39) missense probably damaging 1.00
R7552:Minar1 UTSW 9 89,483,888 (GRCm39) missense probably benign 0.00
R8826:Minar1 UTSW 9 89,483,234 (GRCm39) missense probably damaging 1.00
R9181:Minar1 UTSW 9 89,485,394 (GRCm39) start codon destroyed probably null 1.00
R9220:Minar1 UTSW 9 89,484,398 (GRCm39) missense probably damaging 1.00
R9560:Minar1 UTSW 9 89,484,531 (GRCm39) missense probably benign 0.00
R9666:Minar1 UTSW 9 89,484,072 (GRCm39) missense probably benign 0.06
U24488:Minar1 UTSW 9 89,485,100 (GRCm39) missense probably damaging 1.00
Z1177:Minar1 UTSW 9 89,485,215 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04