Incidental Mutation 'R0676:Nolc1'
| ID |
61663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nolc1
|
| Ensembl Gene |
ENSMUSG00000015176 |
| Gene Name |
nucleolar and coiled-body phosphoprotein 1 |
| Synonyms |
3230402K17Rik, P130, NOPP140 |
| MMRRC Submission |
038861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0676 (G1)
|
| Quality Score |
109 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46064302-46073969 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 46068528 bp (GRCm39)
|
| 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 |
probably benign
Transcript: ENSMUST00000225780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225758
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,516 (GRCm39) |
|
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
| B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
C |
5: 9,043,622 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
C |
10: 64,245,040 (GRCm39) |
H451P |
probably benign |
Het |
| Cts6 |
C |
T |
13: 61,345,298 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,586,063 (GRCm39) |
T540A |
probably damaging |
Het |
| Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,374,169 (GRCm39) |
Y466N |
probably damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
| H4c9 |
T |
C |
13: 22,225,276 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,398 (GRCm39) |
D576V |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,944,729 (GRCm39) |
R627H |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
| Mapk9 |
T |
C |
11: 49,773,983 (GRCm39) |
*382Q |
probably null |
Het |
| Mn1 |
A |
G |
5: 111,568,900 (GRCm39) |
S957G |
possibly damaging |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,412 (GRCm39) |
M28L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,555,749 (GRCm39) |
I913V |
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,624,413 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
C |
T |
5: 53,803,390 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,555,047 (GRCm39) |
I387T |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
| Scarb1 |
C |
A |
5: 125,374,278 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,876,458 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
G |
A |
13: 34,379,462 (GRCm39) |
T435I |
probably damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,773,509 (GRCm39) |
|
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,750,733 (GRCm39) |
I114V |
probably benign |
Het |
| Tbc1d8b |
A |
G |
X: 138,613,025 (GRCm39) |
S284G |
possibly damaging |
Het |
| Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
C |
T |
17: 23,565,238 (GRCm39) |
S375F |
probably benign |
Het |
|
| Other mutations in Nolc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02679:Nolc1
|
APN |
19 |
46,071,468 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Nolc1
|
UTSW |
19 |
46,069,814 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Nolc1
|
UTSW |
19 |
46,069,795 (GRCm39) |
small insertion |
probably benign |
|
|
R0106:Nolc1
|
UTSW |
19 |
46,068,528 (GRCm39) |
splice site |
probably benign |
|
|
R0121:Nolc1
|
UTSW |
19 |
46,069,817 (GRCm39) |
unclassified |
probably benign |
|
|
R0140:Nolc1
|
UTSW |
19 |
46,069,817 (GRCm39) |
unclassified |
probably benign |
|
|
R0501:Nolc1
|
UTSW |
19 |
46,067,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Nolc1
|
UTSW |
19 |
46,072,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Nolc1
|
UTSW |
19 |
46,069,814 (GRCm39) |
small insertion |
probably benign |
|
|
R1642:Nolc1
|
UTSW |
19 |
46,067,461 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1698:Nolc1
|
UTSW |
19 |
46,069,870 (GRCm39) |
splice site |
probably null |
|
|
R2067:Nolc1
|
UTSW |
19 |
46,072,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Nolc1
|
UTSW |
19 |
46,069,800 (GRCm39) |
small insertion |
probably benign |
|
|
R2113:Nolc1
|
UTSW |
19 |
46,069,798 (GRCm39) |
small insertion |
probably benign |
|
|
R2300:Nolc1
|
UTSW |
19 |
46,069,807 (GRCm39) |
small insertion |
probably benign |
|
|
R2300:Nolc1
|
UTSW |
19 |
46,069,798 (GRCm39) |
small insertion |
probably benign |
|
|
R2895:Nolc1
|
UTSW |
19 |
46,069,791 (GRCm39) |
small insertion |
probably benign |
|
|
R2999:Nolc1
|
UTSW |
19 |
46,071,594 (GRCm39) |
small deletion |
probably benign |
|
|
R3737:Nolc1
|
UTSW |
19 |
46,069,816 (GRCm39) |
small insertion |
probably benign |
|
|
R3737:Nolc1
|
UTSW |
19 |
46,069,792 (GRCm39) |
small insertion |
probably benign |
|
|
R3737:Nolc1
|
UTSW |
19 |
46,069,809 (GRCm39) |
small insertion |
probably benign |
|
|
R3747:Nolc1
|
UTSW |
19 |
46,069,795 (GRCm39) |
small insertion |
probably benign |
|
|
R3806:Nolc1
|
UTSW |
19 |
46,069,791 (GRCm39) |
small insertion |
probably benign |
|
|
R3807:Nolc1
|
UTSW |
19 |
46,069,791 (GRCm39) |
small insertion |
probably benign |
|
|
R3807:Nolc1
|
UTSW |
19 |
46,069,798 (GRCm39) |
small insertion |
probably benign |
|
|
R3807:Nolc1
|
UTSW |
19 |
46,069,810 (GRCm39) |
small insertion |
probably benign |
|
|
R4035:Nolc1
|
UTSW |
19 |
46,069,797 (GRCm39) |
small insertion |
probably benign |
|
|
R4619:Nolc1
|
UTSW |
19 |
46,071,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Nolc1
|
UTSW |
19 |
46,071,594 (GRCm39) |
small deletion |
probably benign |
|
|
R4999:Nolc1
|
UTSW |
19 |
46,067,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Nolc1
|
UTSW |
19 |
46,070,103 (GRCm39) |
nonsense |
probably null |
|
|
R5559:Nolc1
|
UTSW |
19 |
46,071,594 (GRCm39) |
small deletion |
probably benign |
|
|
R5837:Nolc1
|
UTSW |
19 |
46,071,622 (GRCm39) |
unclassified |
probably benign |
|
|
R6457:Nolc1
|
UTSW |
19 |
46,071,509 (GRCm39) |
unclassified |
probably benign |
|
|
R7467:Nolc1
|
UTSW |
19 |
46,070,773 (GRCm39) |
missense |
unknown |
|
|
R7497:Nolc1
|
UTSW |
19 |
46,071,257 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8011:Nolc1
|
UTSW |
19 |
46,070,023 (GRCm39) |
missense |
unknown |
|
|
R8806:Nolc1
|
UTSW |
19 |
46,071,471 (GRCm39) |
missense |
unknown |
|
|
RF027:Nolc1
|
UTSW |
19 |
46,069,802 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Nolc1
|
UTSW |
19 |
46,069,810 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Nolc1
|
UTSW |
19 |
46,069,810 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Nolc1
|
UTSW |
19 |
46,069,802 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Nolc1
|
UTSW |
19 |
46,069,810 (GRCm39) |
small insertion |
probably benign |
|
|
X0050:Nolc1
|
UTSW |
19 |
46,069,791 (GRCm39) |
small deletion |
probably benign |
|
|
Y5377:Nolc1
|
UTSW |
19 |
46,069,808 (GRCm39) |
small insertion |
probably benign |
|
|
Y5379:Nolc1
|
UTSW |
19 |
46,069,798 (GRCm39) |
small insertion |
probably benign |
|
|
Z1088:Nolc1
|
UTSW |
19 |
46,071,537 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTTTTAGCAGAAGGCAGCTAAGC -3'
(R):5'- AGACAGGGTCTGAGGAAACTTTCCAG -3'
Sequencing Primer
(F):5'- GGCAGCTAAGCCCCAAG -3'
(R):5'- aaatgcctttaatctcggcac -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation