Incidental Mutation 'IGL00840:Knop1'
ID13245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Knop1
Ensembl Gene ENSMUSG00000030980
Gene Namelysine rich nucleolar protein 1
SynonymsTsg118, 2310008H09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL00840
Quality Score
Status
Chromosome7
Chromosomal Location118842222-118856254 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118852798 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 233 (Y233H)
Ref Sequence ENSEMBL: ENSMUSP00000111984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063607] [ENSMUST00000098087] [ENSMUST00000106547] [ENSMUST00000106549] [ENSMUST00000106550] [ENSMUST00000116280] [ENSMUST00000126792] [ENSMUST00000152136] [ENSMUST00000152309] [ENSMUST00000208658]
Predicted Effect probably benign
Transcript: ENSMUST00000033277
SMART Domains Protein: ENSMUSP00000033277
Gene: ENSMUSG00000030980

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
low complexity region 123 135 N/A INTRINSIC
low complexity region 173 186 N/A INTRINSIC
low complexity region 204 218 N/A INTRINSIC
low complexity region 243 256 N/A INTRINSIC
low complexity region 293 304 N/A INTRINSIC
low complexity region 314 329 N/A INTRINSIC
low complexity region 340 350 N/A INTRINSIC
internal_repeat_1 401 413 1.29e-7 PROSPERO
internal_repeat_1 417 429 1.29e-7 PROSPERO
Pfam:SMAP 435 509 1.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063607
SMART Domains Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
low complexity region 123 135 N/A INTRINSIC
low complexity region 173 186 N/A INTRINSIC
internal_repeat_1 239 251 6.9e-7 PROSPERO
internal_repeat_1 255 267 6.9e-7 PROSPERO
Pfam:SMAP 273 347 3.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098087
SMART Domains Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856

DomainStartEndE-ValueType
low complexity region 111 120 N/A INTRINSIC
IQ 219 241 7.58e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106547
SMART Domains Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856

DomainStartEndE-ValueType
low complexity region 108 117 N/A INTRINSIC
IQ 216 238 7.58e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106549
SMART Domains Protein: ENSMUSP00000102159
Gene: ENSMUSG00000030980

DomainStartEndE-ValueType
low complexity region 71 83 N/A INTRINSIC
low complexity region 121 134 N/A INTRINSIC
internal_repeat_1 187 199 1.42e-6 PROSPERO
internal_repeat_1 203 215 1.42e-6 PROSPERO
Pfam:SMAP 221 295 3.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106550
AA Change: Y233H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: Y233H

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
low complexity region 123 135 N/A INTRINSIC
low complexity region 173 186 N/A INTRINSIC
internal_repeat_1 216 228 4.11e-7 PROSPERO
internal_repeat_1 232 244 4.11e-7 PROSPERO
Pfam:SMAP 250 324 3.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116280
AA Change: Y233H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: Y233H

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
low complexity region 123 135 N/A INTRINSIC
low complexity region 173 186 N/A INTRINSIC
low complexity region 204 218 N/A INTRINSIC
low complexity region 243 256 N/A INTRINSIC
low complexity region 293 304 N/A INTRINSIC
low complexity region 314 329 N/A INTRINSIC
low complexity region 340 350 N/A INTRINSIC
internal_repeat_1 401 413 1.29e-7 PROSPERO
internal_repeat_1 417 429 1.29e-7 PROSPERO
Pfam:SMAP 436 509 7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126792
SMART Domains Protein: ENSMUSP00000114727
Gene: ENSMUSG00000030980

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
low complexity region 123 135 N/A INTRINSIC
low complexity region 173 186 N/A INTRINSIC
internal_repeat_1 216 228 4.11e-7 PROSPERO
internal_repeat_1 232 244 4.11e-7 PROSPERO
Pfam:SMAP 251 324 1.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152136
Predicted Effect probably benign
Transcript: ENSMUST00000152309
AA Change: Y181H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117151
Gene: ENSMUSG00000030980
AA Change: Y181H

DomainStartEndE-ValueType
low complexity region 71 83 N/A INTRINSIC
low complexity region 121 134 N/A INTRINSIC
low complexity region 152 166 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153518
Predicted Effect probably benign
Transcript: ENSMUST00000208658
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,282,482 Y1764C probably damaging Het
Agbl3 T C 6: 34,799,159 V200A possibly damaging Het
Akr1b10 T C 6: 34,394,106 S264P possibly damaging Het
Camkmt T G 17: 85,458,123 L319* probably null Het
Cdhr2 T C 13: 54,720,152 W513R probably damaging Het
Cts8 T C 13: 61,251,578 Y189C probably damaging Het
Cyp2d10 T A 15: 82,404,490 T264S probably benign Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dnah8 G A 17: 30,790,941 V3769M probably damaging Het
Dnajc16 C A 4: 141,768,003 G468V probably damaging Het
Eif3d A T 15: 77,961,869 N351K probably benign Het
F5 T C 1: 164,179,524 M299T probably benign Het
Fcamr G A 1: 130,813,214 V457M probably benign Het
Gm4763 A T 7: 24,723,506 L129H probably damaging Het
Heatr5b A G 17: 78,765,437 L1599P probably damaging Het
Kl A T 5: 150,980,787 I335F possibly damaging Het
Lhcgr T C 17: 88,753,736 probably benign Het
Macrod2 A T 2: 142,176,658 N237I possibly damaging Het
Myo7a T C 7: 98,051,659 S2168G probably benign Het
Naxe T C 3: 88,057,983 I108V probably benign Het
Ncbp1 T A 4: 46,161,307 W428R probably damaging Het
Nxpe3 T C 16: 55,844,232 I542V probably damaging Het
Phkb T A 8: 85,957,587 S424R probably benign Het
Rgs20 C T 1: 5,070,015 V55I probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Rpgr T C X: 10,208,709 I233V possibly damaging Het
Slc25a31 T C 3: 40,724,877 S258P probably benign Het
Soat1 A C 1: 156,434,196 V414G probably damaging Het
St18 A T 1: 6,833,594 E693V probably damaging Het
Svil T C 18: 5,063,555 V1029A probably benign Het
Tnfaip3 C A 10: 19,005,126 V398L probably damaging Het
Ubap1 A G 4: 41,379,562 T259A probably benign Het
Wdr7 A G 18: 63,927,327 E1347G possibly damaging Het
Other mutations in Knop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Knop1 APN 7 118852644 missense probably benign 0.09
IGL01484:Knop1 APN 7 118852809 missense probably damaging 0.99
IGL01608:Knop1 APN 7 118845796 missense probably benign 0.30
IGL03094:Knop1 APN 7 118853151 missense possibly damaging 0.92
R0147:Knop1 UTSW 7 118845838 missense probably benign 0.35
R0403:Knop1 UTSW 7 118853053 missense probably damaging 0.99
R0421:Knop1 UTSW 7 118855629 missense possibly damaging 0.53
R1483:Knop1 UTSW 7 118853050 missense probably damaging 0.96
R1513:Knop1 UTSW 7 118852449 unclassified probably benign
R1541:Knop1 UTSW 7 118855786 unclassified probably benign
R2366:Knop1 UTSW 7 118852528 missense possibly damaging 0.60
R2372:Knop1 UTSW 7 118853217 missense probably damaging 1.00
R2872:Knop1 UTSW 7 118855963 critical splice donor site probably null
R3001:Knop1 UTSW 7 118852449 unclassified probably benign
R3002:Knop1 UTSW 7 118852449 unclassified probably benign
R4723:Knop1 UTSW 7 118855864 unclassified probably benign
R4916:Knop1 UTSW 7 118846076 missense probably damaging 1.00
R5286:Knop1 UTSW 7 118855770 missense probably damaging 0.99
R5326:Knop1 UTSW 7 118853272 missense possibly damaging 0.91
R5733:Knop1 UTSW 7 118846082 missense probably damaging 0.96
R5950:Knop1 UTSW 7 118853334 missense probably damaging 1.00
R6741:Knop1 UTSW 7 118845838 missense possibly damaging 0.79
Posted On2012-12-06