Incidental Mutation 'R9482:Knop1'
ID 716304
Institutional Source Beutler Lab
Gene Symbol Knop1
Ensembl Gene ENSMUSG00000030980
Gene Name lysine rich nucleolar protein 1
Synonyms 2310008H09Rik, Tsg118
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9482 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 118441440-118454907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118447710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 417 (S417P)
Ref Sequence ENSEMBL: ENSMUSP00000102160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063607] [ENSMUST00000106549] [ENSMUST00000106550] [ENSMUST00000116280] [ENSMUST00000126792] [ENSMUST00000152309]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000033277
Gene: ENSMUSG00000030980
AA Change: S73P

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 possibly damaging
Transcript: ENSMUST00000063607
AA Change: S255P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980
AA Change: S255P

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 possibly damaging
Transcript: ENSMUST00000106549
AA Change: S203P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102159
Gene: ENSMUSG00000030980
AA Change: S203P

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 unknown
Transcript: ENSMUST00000106550
AA Change: S417P
SMART Domains Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: S417P

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 unknown
Transcript: ENSMUST00000116280
AA Change: S417P
SMART Domains Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: S417P

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
SMART Domains Protein: ENSMUSP00000114727
Gene: ENSMUSG00000030980
AA Change: S232P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,307,423 (GRCm39) V793A probably benign Het
Als2 G T 1: 59,231,109 (GRCm39) P834Q probably damaging Het
Alx1 T C 10: 102,864,335 (GRCm39) T45A probably benign Het
Angptl7 T G 4: 148,584,575 (GRCm39) S58R possibly damaging Het
Atg3 A G 16: 44,979,481 (GRCm39) T7A probably benign Het
Bpifc A T 10: 85,815,118 (GRCm39) S283T possibly damaging Het
C2cd2l T A 9: 44,227,914 (GRCm39) E231V probably damaging Het
Cdk5r2 T C 1: 74,894,504 (GRCm39) V83A probably damaging Het
Chst10 T C 1: 38,907,116 (GRCm39) E178G probably damaging Het
Crocc2 T A 1: 93,143,106 (GRCm39) L1236Q probably benign Het
Dleu7 T C 14: 62,514,351 (GRCm39) *210W probably null Het
Emc1 T G 4: 139,088,201 (GRCm39) V323G probably damaging Het
Fcrla T C 1: 170,745,949 (GRCm39) T278A probably benign Het
Flrt3 T C 2: 140,503,590 (GRCm39) T13A probably benign Het
Galntl6 A T 8: 58,310,549 (GRCm39) probably null Het
Gen1 A G 12: 11,305,186 (GRCm39) V203A possibly damaging Het
Gm3149 T A 14: 15,698,287 (GRCm39) V169E probably benign Het
Hjurp CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA C 1: 88,193,996 (GRCm39) probably benign Het
Hmcn1 A G 1: 150,610,281 (GRCm39) S1463P probably benign Het
Irag1 A T 7: 110,545,259 (GRCm39) D12E probably benign Het
Jsrp1 A T 10: 80,644,734 (GRCm39) I224N possibly damaging Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Kcnma1 A T 14: 23,441,033 (GRCm39) M591K probably benign Het
Kmt2d A C 15: 98,763,046 (GRCm39) W268G probably damaging Het
Lpin3 T C 2: 160,746,416 (GRCm39) F692L probably damaging Het
Mycbp T C 4: 123,803,880 (GRCm39) C130R unknown Het
Myh1 T C 11: 67,108,745 (GRCm39) I1387T probably damaging Het
Nbeal2 T C 9: 110,463,066 (GRCm39) D1333G probably benign Het
Nedd4l G T 18: 65,021,031 (GRCm39) probably benign Het
Nucks1 A G 1: 131,846,744 (GRCm39) N7D probably benign Het
Nup210 A G 6: 91,019,608 (GRCm39) I991T probably damaging Het
Or4a72 C T 2: 89,405,953 (GRCm39) G39D probably damaging Het
Pcdhb3 A G 18: 37,434,736 (GRCm39) D234G probably damaging Het
Phyh C T 2: 4,923,863 (GRCm39) probably benign Het
Pik3c2a G A 7: 115,961,289 (GRCm39) T1070I probably benign Het
Prss52 C T 14: 64,351,129 (GRCm39) L305F probably damaging Het
Rasef T C 4: 73,708,933 (GRCm39) D100G probably benign Het
Rb1 A C 14: 73,443,493 (GRCm39) M754R probably damaging Het
Rbm6 T C 9: 107,669,208 (GRCm39) Q568R possibly damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serf2 T C 2: 121,281,206 (GRCm39) S41P possibly damaging Het
Serf2 C A 2: 121,281,205 (GRCm39) D40E possibly damaging Het
Sh2b1 AGCTC AGCTCAGCCACGGGGACCCGCTC 7: 126,066,768 (GRCm39) probably benign Het
Sympk G T 7: 18,771,986 (GRCm39) R350L possibly damaging Het
Tab2 C A 10: 7,795,124 (GRCm39) V379L probably damaging Het
Tnk1 T G 11: 69,743,666 (GRCm39) T485P probably benign Het
Trmt6 T C 2: 132,648,699 (GRCm39) T412A probably benign Het
Vgll3 A G 16: 65,636,229 (GRCm39) T182A probably benign Het
Zfat A G 15: 68,084,652 (GRCm39) S80P probably damaging Het
Zfp1004 C A 2: 150,034,711 (GRCm39) T344K probably benign Het
Zfyve26 A G 12: 79,291,239 (GRCm39) L2122S probably damaging Het
Other mutations in Knop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Knop1 APN 7 118,451,867 (GRCm39) missense probably benign 0.09
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
R9584:Knop1 UTSW 7 118,447,709 (GRCm39) missense unknown
R9728:Knop1 UTSW 7 118,451,840 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGATTAGCCTGCAGGTCACC -3'
(R):5'- GTAAAGCTCTTGATCTTCCGCC -3'

Sequencing Primer
(F):5'- ATTGTCCACAACAGCCTAGGGG -3'
(R):5'- GCCTCACCTTTACGTAGCAGTAAG -3'
Posted On 2022-07-18