Incidental Mutation 'IGL01368:Nol9'
ID76021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol9
Ensembl Gene ENSMUSG00000028948
Gene Namenucleolar protein 9
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL01368
Quality Score
Status
Chromosome4
Chromosomal Location152039321-152061494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 152058391 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 687 (N687K)
Ref Sequence ENSEMBL: ENSMUSP00000081133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084116] [ENSMUST00000103197]
Predicted Effect probably benign
Transcript: ENSMUST00000084116
AA Change: N687K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: N687K

DomainStartEndE-ValueType
low complexity region 24 42 N/A INTRINSIC
low complexity region 45 54 N/A INTRINSIC
low complexity region 79 106 N/A INTRINSIC
low complexity region 281 294 N/A INTRINSIC
Pfam:CLP1_P 322 480 7.5e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103197
SMART Domains Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948

DomainStartEndE-ValueType
low complexity region 24 42 N/A INTRINSIC
low complexity region 45 54 N/A INTRINSIC
low complexity region 79 106 N/A INTRINSIC
low complexity region 281 294 N/A INTRINSIC
Pfam:MobB 316 429 5.9e-18 PFAM
Pfam:Clp1 425 665 1.9e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105663
SMART Domains Protein: ENSMUSP00000101288
Gene: ENSMUSG00000028948

DomainStartEndE-ValueType
low complexity region 24 42 N/A INTRINSIC
low complexity region 45 54 N/A INTRINSIC
low complexity region 79 106 N/A INTRINSIC
low complexity region 281 294 N/A INTRINSIC
Pfam:MobB 316 429 5.3e-18 PFAM
Pfam:Clp1 425 627 5.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131696
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,051,334 D93E probably damaging Het
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Babam1 T A 8: 71,398,406 D104E probably damaging Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Ckm C T 7: 19,416,787 Q184* probably null Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,736,390 E34G probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Map3k3 T C 11: 106,150,389 F395L probably benign Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Rrh T C 3: 129,808,969 D229G probably benign Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Slc41a1 G A 1: 131,839,124 V127I probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Zdhhc16 T A 19: 41,941,506 probably null Het
Other mutations in Nol9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Nol9 APN 4 152052015 missense probably benign 0.38
IGL00774:Nol9 APN 4 152052015 missense probably benign 0.38
IGL00885:Nol9 APN 4 152041600 missense probably damaging 1.00
IGL01125:Nol9 APN 4 152046609 missense probably damaging 1.00
IGL01759:Nol9 APN 4 152046043 intron probably benign
IGL01983:Nol9 APN 4 152046037 critical splice donor site probably null
IGL02185:Nol9 APN 4 152057911 missense probably damaging 1.00
IGL02869:Nol9 APN 4 152046573 missense probably damaging 1.00
IGL02967:Nol9 APN 4 152041102 missense possibly damaging 0.95
R0401:Nol9 UTSW 4 152052605 missense probably benign 0.00
R3721:Nol9 UTSW 4 152039706 missense probably benign 0.07
R4429:Nol9 UTSW 4 152041174 missense probably damaging 1.00
R4460:Nol9 UTSW 4 152057836 missense probably damaging 1.00
R4837:Nol9 UTSW 4 152052095 intron probably benign
R5137:Nol9 UTSW 4 152045971 missense probably damaging 1.00
R5698:Nol9 UTSW 4 152050574 missense probably damaging 0.98
R6190:Nol9 UTSW 4 152041234 missense possibly damaging 0.85
R6317:Nol9 UTSW 4 152041057 missense probably damaging 1.00
R6372:Nol9 UTSW 4 152045995 missense probably damaging 1.00
R6525:Nol9 UTSW 4 152039449 missense probably damaging 0.98
R6551:Nol9 UTSW 4 152051868 missense possibly damaging 0.80
R6580:Nol9 UTSW 4 152051761 missense probably benign 0.00
R7538:Nol9 UTSW 4 152039658 missense probably benign 0.05
R8143:Nol9 UTSW 4 152041102 missense possibly damaging 0.95
Posted On2013-10-07