Incidental Mutation 'R0121:Nolc1'
ID |
21066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nolc1
|
Ensembl Gene |
ENSMUSG00000015176 |
Gene Name |
nucleolar and coiled-body phosphoprotein 1 |
Synonyms |
3230402K17Rik, P130, NOPP140 |
MMRRC Submission |
038406-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0121 (G1)
|
Quality Score |
204 |
Status
|
Validated
(trace)
|
Chromosome |
19 |
Chromosomal Location |
46064302-46073969 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 46069817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165017]
[ENSMUST00000223728]
[ENSMUST00000223741]
[ENSMUST00000225780]
[ENSMUST00000224490]
|
AlphaFold |
E9Q5C9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000165017
AA Change: D236N
|
SMART Domains |
Protein: ENSMUSP00000128331 Gene: ENSMUSG00000015176 AA Change: D236N
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 |
unknown
Transcript: ENSMUST00000223683
AA Change: D235N
|
Predicted Effect |
unknown
Transcript: ENSMUST00000223728
AA Change: D234N
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223741
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224034
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224434
|
Predicted Effect |
unknown
Transcript: ENSMUST00000225780
AA Change: D235N
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225758
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224490
|
Meta Mutation Damage Score |
0.0727 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.8%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,298,945 (GRCm39) |
|
probably null |
Het |
Adgra3 |
T |
C |
5: 50,183,128 (GRCm39) |
|
probably benign |
Het |
Anxa7 |
A |
T |
14: 20,510,227 (GRCm39) |
L386M |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,212,793 (GRCm39) |
M58V |
possibly damaging |
Het |
Arfip2 |
A |
G |
7: 105,285,578 (GRCm39) |
L224P |
probably damaging |
Het |
Arhgap20 |
A |
G |
9: 51,750,251 (GRCm39) |
N373S |
possibly damaging |
Het |
Asph |
T |
C |
4: 9,635,918 (GRCm39) |
D73G |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,116,909 (GRCm39) |
E236V |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,057,116 (GRCm39) |
S170P |
probably damaging |
Het |
Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
B4galnt3 |
C |
T |
6: 120,191,999 (GRCm39) |
R578H |
probably benign |
Het |
Ccdc178 |
C |
A |
18: 21,978,081 (GRCm39) |
|
probably null |
Het |
Ccnh |
T |
A |
13: 85,354,312 (GRCm39) |
M252K |
probably damaging |
Het |
Clec4b2 |
A |
G |
6: 123,181,131 (GRCm39) |
D172G |
probably benign |
Het |
Col1a1 |
A |
G |
11: 94,828,895 (GRCm39) |
E79G |
unknown |
Het |
Csf3r |
A |
G |
4: 125,923,642 (GRCm39) |
N51D |
probably benign |
Het |
Cul7 |
C |
T |
17: 46,974,299 (GRCm39) |
L1489F |
probably damaging |
Het |
Cyp2b13 |
G |
A |
7: 25,786,010 (GRCm39) |
C309Y |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,001,327 (GRCm39) |
|
probably benign |
Het |
Edn1 |
A |
G |
13: 42,458,741 (GRCm39) |
T135A |
probably benign |
Het |
Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
Fam111a |
T |
A |
19: 12,561,444 (GRCm39) |
F12L |
probably benign |
Het |
Foxi2 |
C |
A |
7: 135,013,640 (GRCm39) |
A290E |
probably benign |
Het |
Gabra6 |
A |
G |
11: 42,205,798 (GRCm39) |
S353P |
probably benign |
Het |
Gm4847 |
T |
C |
1: 166,469,857 (GRCm39) |
D72G |
probably damaging |
Het |
Grhl3 |
A |
G |
4: 135,279,860 (GRCm39) |
I398T |
probably damaging |
Het |
Gtdc1 |
T |
C |
2: 44,455,550 (GRCm39) |
|
probably benign |
Het |
Kel |
A |
C |
6: 41,678,998 (GRCm39) |
|
probably benign |
Het |
L3mbtl3 |
C |
T |
10: 26,189,768 (GRCm39) |
D499N |
unknown |
Het |
Lama1 |
T |
A |
17: 68,105,508 (GRCm39) |
|
probably benign |
Het |
Mamdc2 |
T |
A |
19: 23,288,223 (GRCm39) |
E605V |
probably benign |
Het |
Nudt12 |
A |
T |
17: 59,314,634 (GRCm39) |
S317T |
possibly damaging |
Het |
Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
Or4k35 |
A |
T |
2: 111,100,659 (GRCm39) |
C18S |
probably benign |
Het |
Or5w20 |
A |
G |
2: 87,727,434 (GRCm39) |
K297R |
possibly damaging |
Het |
Or8g23 |
T |
A |
9: 38,971,056 (GRCm39) |
K302M |
probably damaging |
Het |
Or8k38 |
A |
G |
2: 86,488,163 (GRCm39) |
V213A |
probably benign |
Het |
Pbld1 |
C |
T |
10: 62,907,282 (GRCm39) |
|
probably benign |
Het |
Prl8a9 |
T |
G |
13: 27,744,589 (GRCm39) |
N84T |
probably benign |
Het |
Psph |
T |
A |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
A |
G |
7: 110,088,426 (GRCm39) |
|
probably null |
Het |
Senp6 |
A |
G |
9: 80,023,952 (GRCm39) |
D405G |
probably benign |
Het |
Serpinb1a |
T |
A |
13: 33,032,754 (GRCm39) |
|
probably benign |
Het |
Slc2a9 |
T |
C |
5: 38,556,086 (GRCm39) |
I287V |
probably benign |
Het |
Sptbn2 |
T |
C |
19: 4,795,321 (GRCm39) |
F1593S |
probably damaging |
Het |
Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
Tdrd3 |
A |
T |
14: 87,776,915 (GRCm39) |
Q727L |
probably damaging |
Het |
Tecpr1 |
C |
T |
5: 144,147,017 (GRCm39) |
E450K |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,795,694 (GRCm39) |
T532I |
probably damaging |
Het |
Tg |
A |
T |
15: 66,612,630 (GRCm39) |
Q396L |
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,294,770 (GRCm39) |
|
probably benign |
Het |
Twnk |
T |
C |
19: 44,997,704 (GRCm39) |
|
probably benign |
Het |
Ubac1 |
A |
G |
2: 25,898,871 (GRCm39) |
|
probably null |
Het |
Ubn2 |
T |
C |
6: 38,429,793 (GRCm39) |
|
probably benign |
Het |
Zfp944 |
T |
A |
17: 22,558,249 (GRCm39) |
T333S |
possibly damaging |
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 |
|
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 |
R0676:Nolc1
|
UTSW |
19 |
46,068,528 (GRCm39) |
splice site |
probably benign |
|
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'- CAGGTCATCCTTTACCTGCTAAGCC -3'
(R):5'- CACTGGAAGAATCCTCACTGCTGG -3'
Sequencing Primer
(F):5'- TGCTAAGCCATCCCACCTG -3'
(R):5'- GGCAGCTACTTTCACTGGG -3'
|
Posted On |
2013-04-11 |