Incidental Mutation 'R9728:Knop1'
ID |
731163 |
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 # |
R9728 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
118441440-118454907 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 118451840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 293
(S293N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102160
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063607]
[ENSMUST00000098087]
[ENSMUST00000106547]
[ENSMUST00000106549]
[ENSMUST00000106550]
[ENSMUST00000116280]
[ENSMUST00000126792]
[ENSMUST00000152136]
[ENSMUST00000152309]
[ENSMUST00000208658]
|
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 |
|
SMART Domains |
Protein: ENSMUSP00000102160 Gene: ENSMUSG00000030980 AA Change: S293N
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 |
|
SMART Domains |
Protein: ENSMUSP00000111984 Gene: ENSMUSG00000030980 AA Change: S293N
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208658
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atr |
G |
A |
9: 95,797,050 (GRCm39) |
A1698T |
probably benign |
Het |
Caml |
T |
A |
13: 55,779,670 (GRCm39) |
S248T |
possibly damaging |
Het |
Copg1 |
A |
G |
6: 87,879,225 (GRCm39) |
I424V |
probably damaging |
Het |
Cwh43 |
A |
T |
5: 73,565,629 (GRCm39) |
N65Y |
possibly damaging |
Het |
Defb1 |
A |
G |
8: 22,284,486 (GRCm39) |
Y35C |
probably damaging |
Het |
Disc1 |
A |
T |
8: 125,959,795 (GRCm39) |
E769V |
probably null |
Het |
Egln1 |
G |
A |
8: 125,675,093 (GRCm39) |
T234I |
possibly damaging |
Het |
Esco2 |
A |
T |
14: 66,069,069 (GRCm39) |
F80L |
probably benign |
Het |
Frem2 |
C |
T |
3: 53,564,052 (GRCm39) |
A152T |
probably benign |
Het |
Gcc1 |
T |
C |
6: 28,420,544 (GRCm39) |
R258G |
probably damaging |
Het |
Gm19410 |
A |
G |
8: 36,247,594 (GRCm39) |
T469A |
possibly damaging |
Het |
Gm4884 |
A |
T |
7: 40,692,689 (GRCm39) |
Q219H |
probably benign |
Het |
Gpr160 |
A |
G |
3: 30,950,144 (GRCm39) |
N72S |
probably damaging |
Het |
Hps3 |
C |
A |
3: 20,065,128 (GRCm39) |
A771S |
probably benign |
Het |
Igkv12-46 |
G |
T |
6: 69,741,967 (GRCm39) |
P4T |
possibly damaging |
Het |
Iqcf5 |
A |
T |
9: 106,393,168 (GRCm39) |
I142L |
probably damaging |
Het |
Kcna10 |
A |
T |
3: 107,101,513 (GRCm39) |
N48I |
possibly damaging |
Het |
Klhdc9 |
A |
G |
1: 171,187,357 (GRCm39) |
S214P |
probably damaging |
Het |
Lgr6 |
A |
G |
1: 134,915,245 (GRCm39) |
L778P |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,618,228 (GRCm39) |
N909S |
probably benign |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Mei1 |
G |
A |
15: 81,966,098 (GRCm39) |
G240D |
|
Het |
Miox |
A |
T |
15: 89,218,703 (GRCm39) |
|
probably benign |
Het |
Myo1e |
A |
G |
9: 70,223,924 (GRCm39) |
Y128C |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,256,915 (GRCm39) |
Y178N |
probably damaging |
Het |
Or14a259 |
A |
G |
7: 86,012,771 (GRCm39) |
L258P |
probably damaging |
Het |
Or5m13 |
A |
G |
2: 85,748,887 (GRCm39) |
N206S |
possibly damaging |
Het |
Or8u8 |
A |
T |
2: 86,011,636 (GRCm39) |
M273K |
possibly damaging |
Het |
Pde11a |
C |
A |
2: 76,121,608 (GRCm39) |
L324F |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,060,639 (GRCm39) |
V1568A |
probably damaging |
Het |
Ralgps1 |
C |
T |
2: 33,163,626 (GRCm39) |
V144M |
probably damaging |
Het |
Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
Sapcd2 |
C |
A |
2: 25,262,669 (GRCm39) |
A76D |
probably damaging |
Het |
Sec24b |
A |
G |
3: 129,790,422 (GRCm39) |
I701T |
probably damaging |
Het |
Sema4a |
T |
C |
3: 88,348,187 (GRCm39) |
|
probably null |
Het |
Setd5 |
G |
T |
6: 113,128,366 (GRCm39) |
V1440L |
probably benign |
Het |
Sik3 |
A |
G |
9: 46,106,142 (GRCm39) |
K337E |
possibly damaging |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Slc23a2 |
G |
T |
2: 131,900,130 (GRCm39) |
N568K |
probably damaging |
Het |
Spag16 |
A |
G |
1: 69,962,842 (GRCm39) |
R330G |
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,707 (GRCm39) |
G861D |
probably damaging |
Het |
Sun5 |
T |
A |
2: 153,709,466 (GRCm39) |
M75L |
probably benign |
Het |
Syde1 |
AGCCCGAAAACACGGGGCTCTGC |
AGC |
10: 78,424,638 (GRCm39) |
|
probably null |
Het |
Synrg |
A |
G |
11: 83,915,117 (GRCm39) |
Y963C |
probably damaging |
Het |
Tdpoz6 |
A |
T |
3: 93,599,807 (GRCm39) |
C187* |
probably null |
Het |
Trbv15 |
A |
T |
6: 41,118,550 (GRCm39) |
E102V |
possibly damaging |
Het |
Trim43b |
G |
T |
9: 88,973,395 (GRCm39) |
H113N |
probably benign |
Het |
Trrap |
G |
T |
5: 144,726,193 (GRCm39) |
D381Y |
probably benign |
Het |
Tubb6 |
A |
G |
18: 67,534,671 (GRCm39) |
H190R |
probably benign |
Het |
Unc45a |
G |
T |
7: 79,978,448 (GRCm39) |
L667I |
probably benign |
Het |
Vav1 |
A |
G |
17: 57,612,459 (GRCm39) |
D570G |
probably benign |
Het |
Vmn1r214 |
T |
C |
13: 23,219,007 (GRCm39) |
V167A |
probably benign |
Het |
Vmn2r112 |
G |
A |
17: 22,824,108 (GRCm39) |
M454I |
probably damaging |
Het |
Vwf |
C |
A |
6: 125,568,670 (GRCm39) |
L398I |
possibly damaging |
Het |
Zfp13 |
C |
T |
17: 23,799,788 (GRCm39) |
R107K |
possibly damaging |
Het |
Zfp318 |
G |
A |
17: 46,707,713 (GRCm39) |
R257Q |
probably benign |
Het |
Zfp9 |
G |
T |
6: 118,443,851 (GRCm39) |
A58E |
probably benign |
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 |
|
|
R9482:Knop1
|
UTSW |
7 |
118,447,710 (GRCm39) |
missense |
unknown |
|
R9584:Knop1
|
UTSW |
7 |
118,447,709 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTATGCAGGCACCCATATGG -3'
(R):5'- AAGGTTCCTGACACGGAAGC -3'
Sequencing Primer
(F):5'- GCCAGGGGTCTTCCTTTAC -3'
(R):5'- CTCTACGAGGCTGGGGATTC -3'
|
Posted On |
2022-10-06 |