Incidental Mutation 'R2366:Knop1'
ID |
246335 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Knop1
|
Ensembl Gene |
ENSMUSG00000030980 |
Gene Name |
lysine rich nucleolar protein 1 |
Synonyms |
2310008H09Rik, Tsg118 |
MMRRC Submission |
040347-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
118441440-118454907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 118451751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 323
(V323F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063607]
[ENSMUST00000098087]
[ENSMUST00000106547]
[ENSMUST00000106549]
[ENSMUST00000106550]
[ENSMUST00000116280]
[ENSMUST00000208658]
[ENSMUST00000126792]
[ENSMUST00000152136]
[ENSMUST00000152309]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033277
|
SMART Domains |
Protein: ENSMUSP00000033277 Gene: ENSMUSG00000030980
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 |
probably benign
Transcript: ENSMUST00000063607
|
SMART Domains |
Protein: ENSMUSP00000068142 Gene: ENSMUSG00000030980
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 |
probably benign
Transcript: ENSMUST00000098087
|
SMART Domains |
Protein: ENSMUSP00000095693 Gene: ENSMUSG00000073856
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
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 |
possibly damaging
Transcript: ENSMUST00000106550
AA Change: V323F
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102160 Gene: ENSMUSG00000030980 AA Change: V323F
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 |
possibly damaging
Transcript: ENSMUST00000116280
AA Change: V323F
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000111984 Gene: ENSMUSG00000030980 AA Change: V323F
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 |
probably benign
Transcript: ENSMUST00000208658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153518
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126792
|
SMART Domains |
Protein: ENSMUSP00000114727 Gene: ENSMUSG00000030980
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: ENSMUST00000152136
|
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (39/39) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630091E08Rik |
G |
A |
7: 98,192,949 (GRCm39) |
|
noncoding transcript |
Het |
Adamts5 |
C |
T |
16: 85,659,646 (GRCm39) |
G882D |
probably damaging |
Het |
Arl6ip6 |
T |
C |
2: 53,082,379 (GRCm39) |
V82A |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,731,035 (GRCm39) |
I726N |
probably damaging |
Het |
Cd38 |
T |
G |
5: 44,060,932 (GRCm39) |
|
probably benign |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Col6a6 |
C |
A |
9: 105,632,893 (GRCm39) |
G1457V |
probably damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
Cyp2d12 |
T |
A |
15: 82,439,355 (GRCm39) |
L3Q |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Drc1 |
A |
G |
5: 30,523,894 (GRCm39) |
*754W |
probably null |
Het |
Erbin |
G |
A |
13: 103,981,417 (GRCm39) |
H503Y |
probably damaging |
Het |
F3 |
G |
A |
3: 121,526,194 (GRCm39) |
|
probably null |
Het |
Gm10033 |
A |
T |
8: 69,826,232 (GRCm39) |
M112K |
unknown |
Het |
Gps1 |
A |
C |
11: 120,678,945 (GRCm39) |
I404L |
probably damaging |
Het |
Hc |
T |
C |
2: 34,903,648 (GRCm39) |
N1002S |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,080,236 (GRCm39) |
I571T |
probably benign |
Het |
Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
Lsm5 |
T |
C |
6: 56,680,003 (GRCm39) |
D53G |
probably damaging |
Het |
Lzts1 |
T |
C |
8: 69,593,257 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
T |
18: 35,721,448 (GRCm39) |
N473I |
probably damaging |
Het |
Med1 |
A |
G |
11: 98,052,008 (GRCm39) |
V452A |
probably damaging |
Het |
Napsa |
T |
A |
7: 44,231,909 (GRCm39) |
D44E |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,290,511 (GRCm39) |
F1036S |
probably damaging |
Het |
Ncapg2 |
G |
A |
12: 116,384,349 (GRCm39) |
W270* |
probably null |
Het |
Nherf1 |
G |
A |
11: 115,054,454 (GRCm39) |
V35M |
probably benign |
Het |
Or5af1 |
C |
A |
11: 58,722,039 (GRCm39) |
Q20K |
probably benign |
Het |
Pik3ca |
G |
A |
3: 32,516,943 (GRCm39) |
W1057* |
probably null |
Het |
Pkd1l2 |
A |
T |
8: 117,770,056 (GRCm39) |
D1133E |
probably benign |
Het |
Pramel39-ps |
T |
C |
5: 94,450,972 (GRCm39) |
K385E |
probably benign |
Het |
Prox1 |
T |
A |
1: 189,894,079 (GRCm39) |
E122V |
probably damaging |
Het |
Rest |
C |
A |
5: 77,416,034 (GRCm39) |
H83N |
probably benign |
Het |
Rundc3a |
A |
G |
11: 102,288,491 (GRCm39) |
I68V |
probably damaging |
Het |
Stx6 |
A |
T |
1: 155,077,706 (GRCm39) |
I238L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubqln3 |
C |
A |
7: 103,790,256 (GRCm39) |
Q611H |
probably damaging |
Het |
Usp6nl |
T |
A |
2: 6,445,770 (GRCm39) |
H559Q |
probably benign |
Het |
Vipr1 |
T |
G |
9: 121,494,250 (GRCm39) |
V277G |
probably benign |
Het |
Zfp101 |
A |
T |
17: 33,599,972 (GRCm39) |
C595S |
probably benign |
Het |
Zfp398 |
C |
T |
6: 47,840,143 (GRCm39) |
T124I |
possibly 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 |
|
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GTATGCAGGCACCCATATGG -3'
(R):5'- AAGGTTCCTGACACGGAAGC -3'
Sequencing Primer
(F):5'- GGCACCCATATGGCAACCTC -3'
(R):5'- ACTCATGCTTAGAGGGGGC -3'
|
Posted On |
2014-10-30 |