Incidental Mutation 'R7850:Knop1'
| ID |
606884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Knop1
|
| Ensembl Gene |
ENSMUSG00000030980 |
| Gene Name |
lysine rich nucleolar protein 1 |
| Synonyms |
2310008H09Rik, Tsg118 |
| MMRRC Submission |
045903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118441440-118454907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118449860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 382
(E382G)
|
| 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: E38G
| 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: E220G
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068142
Gene: ENSMUSG00000030980
AA Change: E220G
| 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: E168G
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102159
Gene: ENSMUSG00000030980
AA Change: E168G
| 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: E382G
|
| SMART Domains |
Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: E382G
| 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: E382G
|
| SMART Domains |
Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: E382G
| 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: 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,869,328 (GRCm39) |
D2E |
probably damaging |
Het |
| Abhd16b |
G |
A |
2: 181,135,518 (GRCm39) |
R140H |
not run |
Het |
| Acad11 |
G |
T |
9: 103,991,728 (GRCm39) |
G588C |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,190,023 (GRCm39) |
S625P |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,832 (GRCm39) |
L265F |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,786 (GRCm39) |
Y227C |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,575 (GRCm39) |
A848T |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,739,720 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
G |
T |
7: 25,886,111 (GRCm39) |
E93* |
probably null |
Het |
| Dcp2 |
C |
A |
18: 44,533,415 (GRCm39) |
S122* |
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,079,745 (GRCm39) |
L456P |
probably damaging |
Het |
| Entpd8 |
T |
C |
2: 24,975,028 (GRCm39) |
M453T |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,114,703 (GRCm39) |
V1084D |
probably damaging |
Het |
| Grem1 |
A |
G |
2: 113,580,178 (GRCm39) |
C108R |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,392,069 (GRCm39) |
E880G |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,922,477 (GRCm39) |
M222K |
probably damaging |
Het |
| Htr1b |
G |
T |
9: 81,514,652 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
G |
5: 35,009,631 (GRCm39) |
|
probably null |
Het |
| Ifnab |
T |
G |
4: 88,609,133 (GRCm39) |
D111A |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,227,053 (GRCm39) |
L2207I |
probably benign |
Het |
| Itln1 |
T |
C |
1: 171,358,166 (GRCm39) |
Y194C |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,865,043 (GRCm39) |
D702E |
probably damaging |
Het |
| Lrit3 |
A |
C |
3: 129,594,452 (GRCm39) |
L42V |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,052,170 (GRCm39) |
E976G |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,996 (GRCm39) |
M167V |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,518 (GRCm39) |
I150N |
possibly damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,949 (GRCm39) |
G253R |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,827,436 (GRCm39) |
E758V |
probably damaging |
Het |
| Pcnx3 |
A |
C |
19: 5,728,960 (GRCm39) |
F967V |
possibly damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,602,842 (GRCm39) |
C368F |
probably benign |
Het |
| Pi15 |
T |
A |
1: 17,673,105 (GRCm39) |
Y101* |
probably null |
Het |
| Ppp1r9a |
G |
A |
6: 4,905,894 (GRCm39) |
V150M |
possibly damaging |
Het |
| Prrt4 |
A |
T |
6: 29,176,900 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,090,828 (GRCm39) |
V310A |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,572,293 (GRCm39) |
S696N |
probably benign |
Het |
| Setx |
T |
A |
2: 29,037,430 (GRCm39) |
V1305D |
probably damaging |
Het |
| Slk |
G |
A |
19: 47,610,796 (GRCm39) |
R822H |
probably damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,383,072 (GRCm39) |
F204I |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,571,140 (GRCm39) |
|
probably null |
Het |
| Tmtc2 |
A |
G |
10: 105,409,568 (GRCm39) |
Y15H |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,615,168 (GRCm39) |
S218P |
probably benign |
Het |
| Tubb2a |
T |
C |
13: 34,258,554 (GRCm39) |
E412G |
probably damaging |
Het |
| Usp48 |
T |
G |
4: 137,333,060 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,805,431 (GRCm39) |
N475K |
probably damaging |
Het |
| Zscan4-ps1 |
G |
A |
7: 10,799,735 (GRCm39) |
H385Y |
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 |
|
|
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'- AAGTCACAGTGGCTTTGGGATC -3'
(R):5'- CTTTGTTGCTGAGCTCAGGC -3'
Sequencing Primer
(F):5'- AGGTGGGCTGAGTTCACC -3'
(R):5'- GGCTCCTTCTCGATGACAAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation