Incidental Mutation 'RF031:Nolc1'
| ID |
604386 |
| 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 # |
RF031 (G1)
|
| Quality Score |
217.002 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46064302-46073969 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (3 aa in frame mutation) |
| DNA Base Change (assembly) |
CAGCAGC to CAGCAGCAGGAGCAGC
at 46069810 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 |
probably benign
Transcript: ENSMUST00000224490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225780
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGCCG |
19: 5,475,246 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCCTCCTCCTCCTCCTCCTC |
CTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTC |
7: 80,162,654 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCC |
CCTCCTCCTCCTGCTCCTCCTCC |
7: 80,162,671 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GGGA |
GGGATGTGACAGACACACTGCCCATGGA |
9: 86,922,498 (GRCm39) |
|
probably benign |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGACTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Dclre1a |
CTTTGCT |
C |
19: 56,532,564 (GRCm39) |
|
probably benign |
Het |
| Dctn6 |
AAATCATGGCTTGCGATCT |
A |
8: 34,572,236 (GRCm39) |
|
probably null |
Het |
| Elovl5 |
G |
T |
9: 77,888,755 (GRCm39) |
|
probably null |
Het |
| Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
G |
GCGTGTGCTGGTC |
5: 110,526,017 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
ATT |
A |
10: 93,880,187 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
TCACTCACCCACTCCTGGTGT |
TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT |
17: 23,981,132 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,602 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCATC |
X: 74,043,607 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,603 (GRCm39) |
|
probably null |
Het |
| Gm11060 |
CTGTGTG |
CTG |
2: 104,922,385 (GRCm39) |
|
probably null |
Het |
| Gm5475 |
GGTGGAAGGAAAG |
GG |
15: 100,325,029 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
TAT |
TATTAAT |
8: 88,883,085 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TTTCCTTTT |
TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTT |
9: 106,447,814 (GRCm39) |
|
probably benign |
Het |
| Ivl |
GCTGCTGCTGCTGC |
G |
3: 92,479,625 (GRCm39) |
|
probably null |
Het |
| Kif12 |
GGC |
GGCCTCCACCCGGCGTGC |
4: 63,089,662 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG |
AGGAGGAGGAG |
4: 98,625,026 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
CCCTGGCCCCGGCC |
CCC |
16: 95,960,504 (GRCm39) |
|
probably null |
Het |
| Loricrin |
ATAGCCG |
A |
3: 91,989,183 (GRCm39) |
|
probably benign |
Het |
| Mapk7 |
GGGGCA |
GGGGCACGGGCA |
11: 61,381,060 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nlrp3 |
GGGTA |
G |
11: 59,449,378 (GRCm39) |
|
probably null |
Het |
| Pdik1l |
TTTT |
TTTTGTTTTTGATTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Het |
| Phldb3 |
CGCCCCCG |
C |
7: 24,325,918 (GRCm39) |
|
probably null |
Het |
| Setd1a |
GGTGGTAGT |
GGTGGTAGTAGTGGTAGT |
7: 127,384,483 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CCCCAGTCCCGCAAGGCCAG |
CCCCAGTCCCGCAAGGCCAGCGATCCTACCCAGTCCCGCAAGGCCAG |
5: 77,164,257 (GRCm39) |
|
probably benign |
Het |
| Strn |
CTTACCCCAGTC |
CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGATCCATTACCCCAGTC |
17: 78,984,706 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
TTCCCAGAGATCCCCTTGGC |
TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTATCCCAGAGATCCCCTTGGC |
18: 60,966,637 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
| Tedc2 |
AGGAACCCT |
AGGAACCCTGGAACCCT |
17: 24,435,213 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
C |
CCGCAGCAAA |
8: 109,682,730 (GRCm39) |
|
probably benign |
Het |
| Zfp335 |
TCGTCGTC |
TCGTCGTCGTC |
2: 164,749,383 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
2019-12-04 |
Incidental Mutation