Incidental Mutation 'R3783:Nsa2'
| ID |
272138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsa2
|
| Ensembl Gene |
ENSMUSG00000060739 |
| Gene Name |
NSA2 ribosome biogenesis homolog |
| Synonyms |
Yr29, 5730427N09Rik, LNR42, Nsa2p |
| MMRRC Submission |
040875-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3783 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
97265935-97274434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97272042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 60
(Q60K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000073456]
[ENSMUST00000160139]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000225410]
[ENSMUST00000161929]
[ENSMUST00000169863]
[ENSMUST00000161913]
|
| AlphaFold |
Q9CR47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022170
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
66 |
349 |
9.9e-64 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
379 |
446 |
4.3e-8 |
PFAM |
|
low complexity region
|
447 |
473 |
N/A |
INTRINSIC |
|
Pfam:EFG_II
|
482 |
556 |
3.9e-29 |
PFAM |
|
EFG_IV
|
558 |
677 |
2.94e-17 |
SMART |
|
EFG_C
|
679 |
766 |
1.9e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042084
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
324 |
4.6e-64 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
354 |
421 |
4.2e-8 |
PFAM |
|
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
|
Pfam:EFG_II
|
457 |
531 |
3.7e-29 |
PFAM |
|
EFG_IV
|
533 |
652 |
2.94e-17 |
SMART |
|
EFG_C
|
654 |
741 |
1.9e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073456
AA Change: Q60K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073161
Gene: ENSMUSG00000060739
AA Change: Q60K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S8e
|
1 |
259 |
1.3e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160139
|
| SMART Domains |
Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
241 |
3.5e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161639
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
351 |
1.2e-68 |
PFAM |
|
low complexity region
|
449 |
475 |
N/A |
INTRINSIC |
|
Pfam:EFG_II
|
484 |
558 |
4.5e-30 |
PFAM |
|
EFG_IV
|
560 |
679 |
2.94e-17 |
SMART |
|
EFG_C
|
681 |
768 |
1.9e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161825
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
351 |
2.3e-64 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
381 |
448 |
1.1e-8 |
PFAM |
|
low complexity region
|
449 |
475 |
N/A |
INTRINSIC |
|
Pfam:EFG_II
|
484 |
558 |
7.1e-30 |
PFAM |
|
EFG_IV
|
560 |
679 |
2.94e-17 |
SMART |
|
EFG_C
|
681 |
738 |
3.46e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161843
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225410
AA Change: Q60K
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161929
|
| SMART Domains |
Protein: ENSMUSP00000125306
Gene: ENSMUSG00000021666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
94 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169863
|
| SMART Domains |
Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161913
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
351 |
3.3e-64 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
381 |
448 |
3.2e-8 |
PFAM |
|
low complexity region
|
449 |
475 |
N/A |
INTRINSIC |
|
Pfam:EFG_II
|
484 |
532 |
2.1e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224980
|
| Meta Mutation Damage Score |
0.0919 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Akap6 |
A |
G |
12: 52,927,552 (GRCm39) |
H154R |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,604,350 (GRCm39) |
T1357A |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,173,067 (GRCm39) |
V270D |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,734,433 (GRCm39) |
F418S |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,365,598 (GRCm39) |
N77S |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,309,392 (GRCm39) |
K47R |
probably damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,135,736 (GRCm39) |
Y42H |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Firrm |
A |
T |
1: 163,815,252 (GRCm39) |
C90S |
probably benign |
Het |
| Flnb |
T |
G |
14: 7,889,236 (GRCm38) |
W529G |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,258,819 (GRCm39) |
Y655C |
probably benign |
Het |
| Gml |
C |
T |
15: 74,685,521 (GRCm39) |
V155M |
probably damaging |
Het |
| Gpr174 |
A |
G |
X: 106,336,670 (GRCm39) |
T161A |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Isy1 |
T |
C |
6: 87,798,527 (GRCm39) |
E209G |
possibly damaging |
Het |
| Kdm5b |
A |
G |
1: 134,558,280 (GRCm39) |
H1429R |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Map3k1 |
C |
T |
13: 111,892,754 (GRCm39) |
V834I |
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,720,818 (GRCm39) |
E2310D |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Niban1 |
C |
T |
1: 151,565,399 (GRCm39) |
S243L |
possibly damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,063,855 (GRCm39) |
L173Q |
probably damaging |
Het |
| Pdpk1 |
T |
C |
17: 24,329,824 (GRCm39) |
T71A |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,489,829 (GRCm39) |
V1692E |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
| Psmd4 |
T |
C |
3: 94,942,562 (GRCm39) |
D6G |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,520,628 (GRCm39) |
T91A |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,185,124 (GRCm39) |
K1182R |
possibly damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,870,372 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
G |
T |
10: 80,723,301 (GRCm39) |
V254F |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,438,048 (GRCm39) |
T203I |
possibly damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
| Usf2 |
A |
G |
7: 30,655,256 (GRCm39) |
V133A |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,200,590 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,851,338 (GRCm39) |
M153I |
probably benign |
Het |
|
| Other mutations in Nsa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Nsa2
|
APN |
13 |
97,268,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Nsa2
|
UTSW |
13 |
97,272,042 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3786:Nsa2
|
UTSW |
13 |
97,272,042 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3787:Nsa2
|
UTSW |
13 |
97,272,042 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3878:Nsa2
|
UTSW |
13 |
97,268,542 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7466:Nsa2
|
UTSW |
13 |
97,267,728 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9274:Nsa2
|
UTSW |
13 |
97,272,170 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCAGCAGATAGGCAGGG -3'
(R):5'- GTAAGCACATGAATACTGTCCAAG -3'
Sequencing Primer
(F):5'- GAGGTTCAGAATGTGCAC -3'
(R):5'- CGACCACCTGTAATGAGATCTGATG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation