Incidental Mutation 'R3747:Nolc1'
ID |
309904 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nolc1
|
Ensembl Gene |
ENSMUSG00000015176 |
Gene Name |
nucleolar and coiled-body phosphoprotein 1 |
Synonyms |
3230402K17Rik, P130, NOPP140 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3747 (G1)
|
Quality Score |
119 |
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 46069795 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: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
Abhd18 |
A |
G |
3: 40,888,008 (GRCm39) |
N284S |
probably benign |
Het |
Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
Aga |
T |
A |
8: 53,970,856 (GRCm39) |
I192N |
probably benign |
Het |
Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
Alk |
A |
G |
17: 72,218,560 (GRCm39) |
S762P |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Cby3 |
T |
C |
11: 50,250,501 (GRCm39) |
*236R |
probably null |
Het |
Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,378,881 (GRCm39) |
K380M |
probably damaging |
Het |
Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
Dazap1 |
C |
T |
10: 80,123,498 (GRCm39) |
R391C |
possibly damaging |
Het |
Dgkh |
T |
A |
14: 78,821,885 (GRCm39) |
E876V |
probably damaging |
Het |
Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
Fam43a |
C |
T |
16: 30,420,664 (GRCm39) |
T416I |
probably benign |
Het |
Fam90a1a |
C |
A |
8: 22,453,221 (GRCm39) |
S192* |
probably null |
Het |
Foxd1 |
G |
C |
13: 98,492,424 (GRCm39) |
A433P |
unknown |
Het |
Garin4 |
T |
G |
1: 190,896,207 (GRCm39) |
Q145H |
probably damaging |
Het |
Gm10152 |
G |
A |
7: 144,316,937 (GRCm39) |
|
probably null |
Het |
Hipk3 |
T |
A |
2: 104,271,628 (GRCm39) |
R435* |
probably null |
Het |
Hnrnpab |
T |
A |
11: 51,493,473 (GRCm39) |
Y245F |
probably benign |
Het |
Islr2 |
A |
T |
9: 58,106,925 (GRCm39) |
S112T |
probably benign |
Het |
Itgb7 |
A |
T |
15: 102,131,212 (GRCm39) |
V280D |
probably damaging |
Het |
Kndc1 |
G |
A |
7: 139,507,817 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
Nbeal1 |
A |
G |
1: 60,234,182 (GRCm39) |
D51G |
probably damaging |
Het |
Ncoa6 |
G |
A |
2: 155,253,561 (GRCm39) |
P939L |
probably benign |
Het |
Ndst3 |
A |
G |
3: 123,465,201 (GRCm39) |
I257T |
probably benign |
Het |
Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,785,041 (GRCm39) |
I2064T |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,810,435 (GRCm39) |
R90G |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
Ppil4 |
A |
T |
10: 7,690,457 (GRCm39) |
Q370L |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
Rb1cc1 |
T |
G |
1: 6,318,966 (GRCm39) |
V778G |
possibly damaging |
Het |
Sgms1 |
A |
T |
19: 32,136,994 (GRCm39) |
S191T |
possibly damaging |
Het |
Sned1 |
T |
A |
1: 93,189,473 (GRCm39) |
F303Y |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,104,652 (GRCm39) |
M402K |
probably damaging |
Het |
Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,066,871 (GRCm39) |
Y226H |
probably damaging |
Het |
Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
Yipf4 |
G |
A |
17: 74,803,667 (GRCm39) |
|
probably null |
Het |
Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
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 |
|
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'- CAGGTCATCCTTTACCTGCTAAGC -3'
(R):5'- CTACTTTCACTGGGGCCTTG -3'
Sequencing Primer
(F):5'- TGCTAAGCCATCCCACCTG -3'
(R):5'- TGGTACAGTCTTCATTGGAGAG -3'
|
Posted On |
2015-04-17 |