Incidental Mutation 'R2300:Nolc1'
| ID |
245320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nolc1
|
| Ensembl Gene |
ENSMUSG00000015176 |
| Gene Name |
nucleolar and coiled-body phosphoprotein 1 |
| Synonyms |
NOPP140, 3230402K17Rik, P130 |
| MMRRC Submission |
040299-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2300 (G1)
|
| Quality Score |
168 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46075863-46085530 bp(+) (GRCm38) |
| Type of Mutation |
small insertion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CAG to CAGAAG
at 46081359 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165017]
[ENSMUST00000223728]
[ENSMUST00000223741]
[ENSMUST00000224490]
[ENSMUST00000225780]
|
| AlphaFold |
E9Q5C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165017
|
| SMART Domains |
Protein: ENSMUSP00000128331
Gene: ENSMUSG00000015176
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
10 |
42 |
2.3e-2 |
SMART |
|
low complexity region
|
76 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
579 |
N/A |
INTRINSIC |
|
Pfam:SRP40_C
|
627 |
699 |
1.1e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225780
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 83,930,117 (GRCm38) |
E355* |
probably null |
Het |
| Aldh6a1 |
G |
T |
12: 84,439,529 (GRCm38) |
T205N |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 102,860,425 (GRCm38) |
I71V |
probably damaging |
Het |
| Arid2 |
A |
T |
15: 96,402,006 (GRCm38) |
E1800V |
probably damaging |
Het |
| Arsi |
G |
A |
18: 60,916,651 (GRCm38) |
G202E |
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,763,256 (GRCm38) |
T154A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,855,241 (GRCm38) |
A2157T |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,916,671 (GRCm38) |
N544K |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,127,513 (GRCm38) |
E444G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,805,551 (GRCm38) |
G102D |
possibly damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,152,449 (GRCm38) |
K130E |
probably benign |
Het |
| H3f3a |
C |
T |
1: 180,803,138 (GRCm38) |
R117H |
probably benign |
Het |
| Jag1 |
T |
C |
2: 137,096,315 (GRCm38) |
Y255C |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,411,539 (GRCm38) |
T825A |
probably benign |
Het |
| Lama4 |
T |
A |
10: 39,087,320 (GRCm38) |
M1296K |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,556,915 (GRCm38) |
C2760* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,348,431 (GRCm38) |
|
probably null |
Het |
| Nop16 |
A |
G |
13: 54,585,866 (GRCm38) |
|
probably null |
Het |
| Or2n1 |
T |
A |
17: 38,175,550 (GRCm38) |
Y155* |
probably null |
Het |
| Or5ak22 |
T |
C |
2: 85,400,132 (GRCm38) |
I134V |
probably benign |
Het |
| Ostf1 |
T |
C |
19: 18,581,280 (GRCm38) |
D213G |
probably damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,441,778 (GRCm38) |
Q34* |
probably null |
Het |
| St18 |
A |
G |
1: 6,855,402 (GRCm38) |
D928G |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,712,500 (GRCm38) |
V31A |
possibly damaging |
Het |
| Tcl1b1 |
G |
A |
12: 105,164,524 (GRCm38) |
A89T |
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,822,078 (GRCm38) |
S464C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,907,448 (GRCm38) |
F4249S |
probably benign |
Het |
| Xdh |
A |
G |
17: 73,891,265 (GRCm38) |
F1209S |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,060,319 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Nolc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02679:Nolc1
|
APN |
19 |
46,083,029 (GRCm38) |
unclassified |
probably benign |
|
|
FR4976:Nolc1
|
UTSW |
19 |
46,081,375 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Nolc1
|
UTSW |
19 |
46,081,356 (GRCm38) |
small insertion |
probably benign |
|
|
R0106:Nolc1
|
UTSW |
19 |
46,080,089 (GRCm38) |
splice site |
probably benign |
|
|
R0121:Nolc1
|
UTSW |
19 |
46,081,378 (GRCm38) |
unclassified |
probably benign |
|
|
R0140:Nolc1
|
UTSW |
19 |
46,081,378 (GRCm38) |
unclassified |
probably benign |
|
|
R0501:Nolc1
|
UTSW |
19 |
46,078,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0513:Nolc1
|
UTSW |
19 |
46,084,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0676:Nolc1
|
UTSW |
19 |
46,080,089 (GRCm38) |
splice site |
probably benign |
|
|
R1553:Nolc1
|
UTSW |
19 |
46,081,375 (GRCm38) |
small insertion |
probably benign |
|
|
R1642:Nolc1
|
UTSW |
19 |
46,079,022 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1698:Nolc1
|
UTSW |
19 |
46,081,431 (GRCm38) |
splice site |
probably null |
|
|
R2067:Nolc1
|
UTSW |
19 |
46,083,607 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Nolc1
|
UTSW |
19 |
46,081,361 (GRCm38) |
small insertion |
probably benign |
|
|
R2113:Nolc1
|
UTSW |
19 |
46,081,359 (GRCm38) |
small insertion |
probably benign |
|
|
R2300:Nolc1
|
UTSW |
19 |
46,081,368 (GRCm38) |
small insertion |
probably benign |
|
|
R2895:Nolc1
|
UTSW |
19 |
46,081,352 (GRCm38) |
small insertion |
probably benign |
|
|
R2999:Nolc1
|
UTSW |
19 |
46,083,155 (GRCm38) |
small deletion |
probably benign |
|
|
R3737:Nolc1
|
UTSW |
19 |
46,081,377 (GRCm38) |
small insertion |
probably benign |
|
|
R3737:Nolc1
|
UTSW |
19 |
46,081,353 (GRCm38) |
small insertion |
probably benign |
|
|
R3737:Nolc1
|
UTSW |
19 |
46,081,370 (GRCm38) |
small insertion |
probably benign |
|
|
R3747:Nolc1
|
UTSW |
19 |
46,081,356 (GRCm38) |
small insertion |
probably benign |
|
|
R3806:Nolc1
|
UTSW |
19 |
46,081,352 (GRCm38) |
small insertion |
probably benign |
|
|
R3807:Nolc1
|
UTSW |
19 |
46,081,352 (GRCm38) |
small insertion |
probably benign |
|
|
R3807:Nolc1
|
UTSW |
19 |
46,081,359 (GRCm38) |
small insertion |
probably benign |
|
|
R3807:Nolc1
|
UTSW |
19 |
46,081,371 (GRCm38) |
small insertion |
probably benign |
|
|
R4035:Nolc1
|
UTSW |
19 |
46,081,358 (GRCm38) |
small insertion |
probably benign |
|
|
R4619:Nolc1
|
UTSW |
19 |
46,083,520 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4856:Nolc1
|
UTSW |
19 |
46,083,155 (GRCm38) |
small deletion |
probably benign |
|
|
R4999:Nolc1
|
UTSW |
19 |
46,078,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5103:Nolc1
|
UTSW |
19 |
46,081,664 (GRCm38) |
nonsense |
probably null |
|
|
R5559:Nolc1
|
UTSW |
19 |
46,083,155 (GRCm38) |
small deletion |
probably benign |
|
|
R5837:Nolc1
|
UTSW |
19 |
46,083,183 (GRCm38) |
unclassified |
probably benign |
|
|
R6457:Nolc1
|
UTSW |
19 |
46,083,070 (GRCm38) |
unclassified |
probably benign |
|
|
R7467:Nolc1
|
UTSW |
19 |
46,082,334 (GRCm38) |
missense |
unknown |
|
|
R7497:Nolc1
|
UTSW |
19 |
46,082,818 (GRCm38) |
missense |
probably benign |
0.23 |
|
R8011:Nolc1
|
UTSW |
19 |
46,081,584 (GRCm38) |
missense |
unknown |
|
|
R8806:Nolc1
|
UTSW |
19 |
46,083,032 (GRCm38) |
missense |
unknown |
|
|
RF027:Nolc1
|
UTSW |
19 |
46,081,363 (GRCm38) |
small insertion |
probably benign |
|
|
RF031:Nolc1
|
UTSW |
19 |
46,081,371 (GRCm38) |
small insertion |
probably benign |
|
|
RF034:Nolc1
|
UTSW |
19 |
46,081,371 (GRCm38) |
small insertion |
probably benign |
|
|
RF040:Nolc1
|
UTSW |
19 |
46,081,363 (GRCm38) |
small insertion |
probably benign |
|
|
RF044:Nolc1
|
UTSW |
19 |
46,081,371 (GRCm38) |
small insertion |
probably benign |
|
|
X0050:Nolc1
|
UTSW |
19 |
46,081,352 (GRCm38) |
small deletion |
probably benign |
|
|
Y5377:Nolc1
|
UTSW |
19 |
46,081,369 (GRCm38) |
small insertion |
probably benign |
|
|
Y5379:Nolc1
|
UTSW |
19 |
46,081,359 (GRCm38) |
small insertion |
probably benign |
|
|
Z1088:Nolc1
|
UTSW |
19 |
46,083,098 (GRCm38) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCATCCTTTACCTGCTAAG -3'
(R):5'- TACTTTCACTGGGGCCTTGG -3'
Sequencing Primer
(F):5'- TGCTAAGCCATCCCACCTG -3'
(R):5'- TGGTACAGTCTTCATTGGAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation