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)
|
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
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 |
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
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 |
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
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 |
noncoding transcript
Transcript: ENSMUST00000153518
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208658
|
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: 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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |