Incidental Mutation 'IGL00801:Knop1'
ID 8435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Knop1
Ensembl Gene ENSMUSG00000030980
Gene Name lysine rich nucleolar protein 1
Synonyms 2310008H09Rik, Tsg118
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00801
Quality Score
Status
Chromosome 7
Chromosomal Location 118441440-118454907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118451867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
Ref Sequence ENSEMBL: ENSMUSP00000111984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063607] [ENSMUST00000098087] [ENSMUST00000106547] [ENSMUST00000106549] [ENSMUST00000106550] [ENSMUST00000116280] [ENSMUST00000208658] [ENSMUST00000126792] [ENSMUST00000152309] [ENSMUST00000152136]
AlphaFold no structure available at present
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 benign
Transcript: ENSMUST00000106550
AA Change: V284A

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: V284A

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 benign
Transcript: ENSMUST00000116280
AA Change: V284A

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: V284A

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 noncoding transcript
Transcript: ENSMUST00000153518
Predicted Effect probably benign
Transcript: ENSMUST00000208658
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: ENSMUST00000152309
SMART Domains Protein: ENSMUSP00000117151
Gene: ENSMUSG00000030980

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 probably benign
Transcript: ENSMUST00000152136
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
4930447C04Rik T C 12: 72,928,160 (GRCm39) T524A possibly damaging Het
Abcb7 T C X: 103,339,584 (GRCm39) I562V possibly damaging Het
Anapc4 T A 5: 53,014,553 (GRCm39) V472D probably damaging Het
Arhgef37 A G 18: 61,632,905 (GRCm39) Y511H probably damaging Het
Atxn3 A G 12: 101,892,767 (GRCm39) S316P possibly damaging Het
B3galt1 A T 2: 67,948,320 (GRCm39) T12S possibly damaging Het
Ccn1 T A 3: 145,354,365 (GRCm39) D182V probably damaging Het
Cdc14a G T 3: 116,088,493 (GRCm39) S394* probably null Het
Celsr3 T C 9: 108,719,775 (GRCm39) V2458A probably benign Het
Dapk1 C T 13: 60,909,062 (GRCm39) T1225I probably benign Het
Fyb1 A G 15: 6,674,305 (GRCm39) K647R possibly damaging Het
Gabra5 C A 7: 57,138,736 (GRCm39) W104L probably damaging Het
Gjb6 A T 14: 57,361,498 (GRCm39) N254K possibly damaging Het
Golga4 T A 9: 118,367,994 (GRCm39) L371Q probably damaging Het
Gucy2g C T 19: 55,221,535 (GRCm39) R322Q probably benign Het
Hnf1b C T 11: 83,746,750 (GRCm39) A122V probably damaging Het
Insrr C T 3: 87,721,115 (GRCm39) L1089F probably damaging Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Map1b C T 13: 99,566,605 (GRCm39) E2039K unknown Het
Myof A G 19: 37,974,521 (GRCm39) I206T probably damaging Het
Nf1 A T 11: 79,319,526 (GRCm39) probably benign Het
Nol8 A G 13: 49,815,704 (GRCm39) D586G probably benign Het
Nudt5 T C 2: 5,871,168 (GRCm39) F166S probably damaging Het
Ociad1 T A 5: 73,461,909 (GRCm39) Y87N probably damaging Het
Qtrt2 T C 16: 43,701,552 (GRCm39) K3E probably damaging Het
Rictor G A 15: 6,824,015 (GRCm39) V1627I probably damaging Het
Skint2 A T 4: 112,483,188 (GRCm39) M198L possibly damaging Het
Slitrk5 A G 14: 111,918,097 (GRCm39) M574V probably benign Het
Thbs1 A G 2: 117,953,454 (GRCm39) D957G probably damaging Het
Tmem198b A C 10: 128,639,014 (GRCm39) L43R probably damaging Het
Trpa1 A G 1: 14,961,557 (GRCm39) M627T probably damaging Het
Zdbf2 T C 1: 63,342,197 (GRCm39) F192S possibly damaging Het
Zfp961 T G 8: 72,719,732 (GRCm39) M54R probably damaging Het
Other mutations in Knop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Knop1 APN 7 118,452,021 (GRCm39) missense probably damaging 0.96
IGL01484:Knop1 APN 7 118,452,032 (GRCm39) missense probably damaging 0.99
IGL01608:Knop1 APN 7 118,445,019 (GRCm39) missense probably benign 0.30
IGL03094:Knop1 APN 7 118,452,374 (GRCm39) missense possibly damaging 0.92
R0147:Knop1 UTSW 7 118,445,061 (GRCm39) missense probably benign 0.35
R0403:Knop1 UTSW 7 118,452,276 (GRCm39) missense probably damaging 0.99
R0421:Knop1 UTSW 7 118,454,852 (GRCm39) missense possibly damaging 0.53
R1483:Knop1 UTSW 7 118,452,273 (GRCm39) missense probably damaging 0.96
R1513:Knop1 UTSW 7 118,451,672 (GRCm39) unclassified probably benign
R1541:Knop1 UTSW 7 118,455,009 (GRCm39) unclassified probably benign
R2366:Knop1 UTSW 7 118,451,751 (GRCm39) missense possibly damaging 0.60
R2372:Knop1 UTSW 7 118,452,440 (GRCm39) missense probably damaging 1.00
R2872:Knop1 UTSW 7 118,455,186 (GRCm39) critical splice donor site probably null
R3001:Knop1 UTSW 7 118,451,672 (GRCm39) unclassified probably benign
R3002:Knop1 UTSW 7 118,451,672 (GRCm39) unclassified probably benign
R4723:Knop1 UTSW 7 118,455,087 (GRCm39) unclassified probably benign
R4916:Knop1 UTSW 7 118,445,299 (GRCm39) missense probably damaging 1.00
R5286:Knop1 UTSW 7 118,454,993 (GRCm39) missense probably damaging 0.99
R5326:Knop1 UTSW 7 118,452,495 (GRCm39) missense possibly damaging 0.91
R5733:Knop1 UTSW 7 118,445,305 (GRCm39) missense probably damaging 0.96
R5950:Knop1 UTSW 7 118,452,557 (GRCm39) missense probably damaging 1.00
R6741:Knop1 UTSW 7 118,445,061 (GRCm39) missense possibly damaging 0.79
R7654:Knop1 UTSW 7 118,445,032 (GRCm39) missense unknown
R7850:Knop1 UTSW 7 118,449,860 (GRCm39) missense unknown
R8192:Knop1 UTSW 7 118,452,369 (GRCm39) missense
R8857:Knop1 UTSW 7 118,451,949 (GRCm39) missense
R9482:Knop1 UTSW 7 118,447,710 (GRCm39) missense unknown
R9584:Knop1 UTSW 7 118,447,709 (GRCm39) missense unknown
R9728:Knop1 UTSW 7 118,451,840 (GRCm39) missense
Posted On 2012-12-06