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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |