Incidental Mutation 'IGL00801:Knop1'
ID8435
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? Non essential (E-score: 0.000) question?
Stock #IGL00801
Quality Score
Status
Chromosome7
Chromosomal Location118842222-118856254 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118852644 bp
ZygosityHeterozygous
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] [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 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 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
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 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
4930447C04Rik T C 12: 72,881,386 T524A possibly damaging Het
Abcb7 T C X: 104,295,978 I562V possibly damaging Het
Anapc4 T A 5: 52,857,211 V472D probably damaging Het
Arhgef37 A G 18: 61,499,834 Y511H probably damaging Het
Atxn3 A G 12: 101,926,508 S316P possibly damaging Het
B3galt1 A T 2: 68,117,976 T12S possibly damaging Het
Cdc14a G T 3: 116,294,844 S394* probably null Het
Celsr3 T C 9: 108,842,576 V2458A probably benign Het
Cyr61 T A 3: 145,648,610 D182V probably damaging Het
Dapk1 C T 13: 60,761,248 T1225I probably benign Het
Fyb A G 15: 6,644,824 K647R possibly damaging Het
Gabra5 C A 7: 57,488,988 W104L probably damaging Het
Gjb6 A T 14: 57,124,041 N254K possibly damaging Het
Golga4 T A 9: 118,538,926 L371Q probably damaging Het
Gucy2g C T 19: 55,233,103 R322Q probably benign Het
Hnf1b C T 11: 83,855,924 A122V probably damaging Het
Insrr C T 3: 87,813,808 L1089F probably damaging Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Map1b C T 13: 99,430,097 E2039K unknown Het
Myof A G 19: 37,986,073 I206T probably damaging Het
Nf1 A T 11: 79,428,700 probably benign Het
Nol8 A G 13: 49,662,228 D586G probably benign Het
Nudt5 T C 2: 5,866,357 F166S probably damaging Het
Ociad1 T A 5: 73,304,566 Y87N probably damaging Het
Qtrt2 T C 16: 43,881,189 K3E probably damaging Het
Rictor G A 15: 6,794,534 V1627I probably damaging Het
Skint2 A T 4: 112,625,991 M198L possibly damaging Het
Slitrk5 A G 14: 111,680,665 M574V probably benign Het
Thbs1 A G 2: 118,122,973 D957G probably damaging Het
Tmem198b A C 10: 128,803,145 L43R probably damaging Het
Trpa1 A G 1: 14,891,333 M627T probably damaging Het
Zdbf2 T C 1: 63,303,038 F192S possibly damaging Het
Zfp961 T G 8: 71,965,888 M54R probably damaging Het
Other mutations in Knop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Knop1 APN 7 118852798 missense probably damaging 0.96
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
R7654:Knop1 UTSW 7 118845809 missense unknown
Posted On2012-12-06