Incidental Mutation 'IGL01484:Knop1'
| ID |
88857 |
| 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 # |
IGL01484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
118441440-118454907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118452032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 229
(D229G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063607]
[ENSMUST00000098087]
[ENSMUST00000106547]
[ENSMUST00000106549]
[ENSMUST00000106550]
[ENSMUST00000116280]
[ENSMUST00000152309]
[ENSMUST00000208658]
[ENSMUST00000126792]
[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 damaging
Transcript: ENSMUST00000106550
AA Change: D229G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102160
Gene: ENSMUSG00000030980
AA Change: D229G
| 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 damaging
Transcript: ENSMUST00000116280
AA Change: D229G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111984
Gene: ENSMUSG00000030980
AA Change: D229G
| 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: ENSMUST00000152309
AA Change: D177G
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117151
Gene: ENSMUSG00000030980
AA Change: D177G
| 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
|
| 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
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
G |
11: 5,579,006 (GRCm39) |
H90R |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,158,685 (GRCm39) |
D88G |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,225,884 (GRCm39) |
L760R |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,021,897 (GRCm39) |
E1202G |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,164 (GRCm39) |
H100R |
probably damaging |
Het |
| Hhip |
T |
C |
8: 80,723,412 (GRCm39) |
H414R |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,713,711 (GRCm39) |
T457M |
probably damaging |
Het |
| Iapp |
A |
G |
6: 142,249,165 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,626,243 (GRCm39) |
N460D |
probably damaging |
Het |
| Itpa |
T |
C |
2: 130,514,019 (GRCm39) |
F77L |
probably benign |
Het |
| Lrrc32 |
T |
C |
7: 98,143,442 (GRCm39) |
I5T |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,734,629 (GRCm39) |
V622M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,571,400 (GRCm39) |
E866G |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,222 (GRCm39) |
W197R |
probably benign |
Het |
| Palmd |
G |
A |
3: 116,746,794 (GRCm39) |
|
probably benign |
Het |
| Pcbp4 |
A |
G |
9: 106,337,848 (GRCm39) |
|
probably null |
Het |
| Pigf |
T |
C |
17: 87,316,308 (GRCm39) |
I157V |
probably benign |
Het |
| Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,843,191 (GRCm39) |
D204V |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,566,401 (GRCm39) |
D349E |
probably benign |
Het |
| Sarm1 |
A |
T |
11: 78,381,839 (GRCm39) |
C215S |
probably damaging |
Het |
| Serpine1 |
T |
C |
5: 137,092,326 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,520,575 (GRCm39) |
V825A |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,611,673 (GRCm39) |
S2P |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,823,183 (GRCm39) |
S311R |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,169 (GRCm39) |
C139* |
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,010 (GRCm39) |
I695N |
probably damaging |
Het |
| Tmem169 |
T |
C |
1: 72,340,263 (GRCm39) |
V231A |
probably damaging |
Het |
| Ttbk2 |
T |
G |
2: 120,570,314 (GRCm39) |
S1211R |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,888 (GRCm39) |
R1855* |
probably null |
Het |
| Urb1 |
A |
T |
16: 90,574,448 (GRCm39) |
S878T |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,749 (GRCm39) |
Y138* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,867,054 (GRCm39) |
N214D |
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 |
|
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 |
2013-11-18 |
Incidental Mutation