Incidental Mutation 'R3807:Nolc1'
ID |
275004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nolc1
|
Ensembl Gene |
ENSMUSG00000015176 |
Gene Name |
nucleolar and coiled-body phosphoprotein 1 |
Synonyms |
3230402K17Rik, P130, NOPP140 |
MMRRC Submission |
040764-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3807 (G1)
|
Quality Score |
142 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
46064302-46073969 bp(+) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
CAG to CAGAAG
at 46069798 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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
A |
T |
8: 112,717,002 (GRCm39) |
W2R |
probably damaging |
Het |
Arhgap42 |
A |
G |
9: 9,008,034 (GRCm39) |
I563T |
probably damaging |
Het |
Armcx1 |
T |
C |
X: 133,622,014 (GRCm39) |
V372A |
probably damaging |
Het |
Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
Bpifb1 |
C |
A |
2: 154,055,922 (GRCm39) |
N329K |
probably benign |
Het |
Ccdc113 |
A |
T |
8: 96,269,281 (GRCm39) |
N193I |
probably damaging |
Het |
Cebpz |
A |
T |
17: 79,242,847 (GRCm39) |
L269Q |
probably damaging |
Het |
Cttn |
C |
T |
7: 143,999,588 (GRCm39) |
V290M |
probably damaging |
Het |
Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,713,819 (GRCm39) |
M1455K |
possibly damaging |
Het |
Eme1 |
A |
G |
11: 94,541,418 (GRCm39) |
W135R |
probably damaging |
Het |
Entpd7 |
T |
G |
19: 43,713,979 (GRCm39) |
|
probably null |
Het |
Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
Erich1 |
T |
C |
8: 14,083,695 (GRCm39) |
N125S |
probably benign |
Het |
Fam149a |
T |
A |
8: 45,834,647 (GRCm39) |
T51S |
possibly damaging |
Het |
Fer1l4 |
C |
T |
2: 155,887,603 (GRCm39) |
G531D |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,560,870 (GRCm39) |
D1212E |
probably benign |
Het |
Garin3 |
G |
A |
11: 46,295,780 (GRCm39) |
A51T |
possibly damaging |
Het |
Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
Gm11595 |
C |
T |
11: 99,663,380 (GRCm39) |
R100H |
unknown |
Het |
Gria1 |
T |
C |
11: 57,201,504 (GRCm39) |
W712R |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,857,557 (GRCm39) |
N4047D |
probably damaging |
Het |
Hoxc9 |
A |
G |
15: 102,890,116 (GRCm39) |
Y11C |
possibly damaging |
Het |
Lama2 |
GCCC |
GCC |
10: 27,066,661 (GRCm39) |
|
probably null |
Het |
Lrrc56 |
A |
G |
7: 140,789,298 (GRCm39) |
T393A |
probably benign |
Het |
Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
Med14 |
T |
C |
X: 12,553,416 (GRCm39) |
Y463C |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,515,599 (GRCm39) |
D1734V |
probably damaging |
Het |
Nfe2l3 |
A |
T |
6: 51,434,357 (GRCm39) |
R306* |
probably null |
Het |
Npr1 |
A |
T |
3: 90,366,033 (GRCm39) |
V586E |
probably damaging |
Het |
Or2d2b |
A |
G |
7: 106,705,670 (GRCm39) |
S133P |
probably benign |
Het |
Or5h24 |
A |
C |
16: 58,919,206 (GRCm39) |
*50G |
probably null |
Het |
Pcdhb4 |
T |
C |
18: 37,442,367 (GRCm39) |
F559S |
probably damaging |
Het |
Psmd12 |
T |
G |
11: 107,386,591 (GRCm39) |
D387E |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,806,027 (GRCm39) |
|
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rgs11 |
A |
T |
17: 26,422,474 (GRCm39) |
I69F |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,719,577 (GRCm39) |
A4277T |
probably damaging |
Het |
Setbp1 |
C |
T |
18: 78,826,537 (GRCm39) |
V1359I |
probably benign |
Het |
Sis |
A |
T |
3: 72,832,929 (GRCm39) |
V956E |
probably benign |
Het |
Slc35f3 |
T |
A |
8: 127,115,978 (GRCm39) |
W302R |
probably damaging |
Het |
Syt16 |
A |
G |
12: 74,276,172 (GRCm39) |
E212G |
possibly damaging |
Het |
Tdp2 |
C |
A |
13: 25,015,776 (GRCm39) |
S21* |
probably null |
Het |
Tfrc |
A |
T |
16: 32,435,644 (GRCm39) |
N173I |
possibly damaging |
Het |
Tmem132b |
A |
T |
5: 125,864,644 (GRCm39) |
I917F |
probably damaging |
Het |
Vbp1 |
T |
C |
X: 74,566,948 (GRCm39) |
V122A |
probably damaging |
Het |
Vmn1r225 |
G |
A |
17: 20,723,114 (GRCm39) |
W185* |
probably null |
Het |
Vmn1r70 |
A |
G |
7: 10,367,715 (GRCm39) |
T68A |
probably benign |
Het |
Zfp518a |
A |
G |
19: 40,903,241 (GRCm39) |
K1057E |
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 |
|
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 |
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 |
46,069,810 (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'- CCATCTAGGCATCTCACTCAGG -3'
(R):5'- TGGTACAGTCTTCATTGGAGAG -3'
Sequencing Primer
(F):5'- AGGCATCTCACTCAGGTCATC -3'
(R):5'- GAAAATTAACATTAGAGGAAAGCGCC -3'
|
Posted On |
2015-04-02 |