Incidental Mutation 'R1257:Nol4'
| ID |
151510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol4
|
| Ensembl Gene |
ENSMUSG00000041923 |
| Gene Name |
nucleolar protein 4 |
| Synonyms |
1700013J13Rik, LOC383304, 4930568N03Rik |
| MMRRC Submission |
039324-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R1257 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
22826238-23174710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22903738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 339
(N339K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081423]
[ENSMUST00000097651]
[ENSMUST00000164186]
[ENSMUST00000164893]
|
| AlphaFold |
P60954 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000069215
AA Change: N193K
|
| SMART Domains |
Protein: ENSMUSP00000064166
Gene: ENSMUSG00000041923
AA Change: N193K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081423
AA Change: N339K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: N339K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
139 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000092015
AA Change: N193K
|
| SMART Domains |
Protein: ENSMUSP00000089642
Gene: ENSMUSG00000041923
AA Change: N193K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097651
AA Change: N412K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: N412K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164186
AA Change: N412K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: N412K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164893
AA Change: N412K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: N412K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
532 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
T |
2: 127,886,286 (GRCm39) |
T174S |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,710,665 (GRCm39) |
R408* |
probably null |
Het |
| Ceacam15 |
A |
G |
7: 16,405,949 (GRCm39) |
S201P |
possibly damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,708,117 (GRCm39) |
I241V |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,234,545 (GRCm39) |
L237* |
probably null |
Het |
| Col4a3 |
T |
A |
1: 82,694,086 (GRCm39) |
C133S |
probably damaging |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,360 (GRCm39) |
V1568D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,900,581 (GRCm39) |
Q1323* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,989,045 (GRCm39) |
N287S |
probably damaging |
Het |
| H2bl1 |
A |
T |
13: 99,121,023 (GRCm39) |
M1K |
probably null |
Het |
| Hectd4 |
G |
A |
5: 121,456,687 (GRCm39) |
W684* |
probably null |
Het |
| Kifc3 |
A |
G |
8: 95,832,400 (GRCm39) |
V474A |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,425,467 (GRCm39) |
V1462A |
unknown |
Het |
| Mdn1 |
A |
T |
4: 32,667,089 (GRCm39) |
|
probably null |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,658,375 (GRCm39) |
Y707H |
probably benign |
Het |
| Or6c209 |
A |
T |
10: 129,483,413 (GRCm39) |
K139* |
probably null |
Het |
| Rbm34 |
C |
T |
8: 127,697,643 (GRCm39) |
G23S |
possibly damaging |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Snap25 |
A |
T |
2: 136,600,268 (GRCm39) |
E37V |
probably damaging |
Het |
| Taf1a |
A |
G |
1: 183,179,175 (GRCm39) |
T118A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,625,049 (GRCm39) |
T1634A |
probably benign |
Het |
| Thrb |
T |
A |
14: 18,008,642 (GRCm38) |
I122K |
probably damaging |
Het |
| Xkr4 |
T |
G |
1: 3,287,036 (GRCm39) |
I385L |
probably benign |
Het |
| Zeb1 |
G |
T |
18: 5,772,699 (GRCm39) |
R996L |
possibly damaging |
Het |
|
| Other mutations in Nol4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Nol4
|
APN |
18 |
22,956,469 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00677:Nol4
|
APN |
18 |
23,054,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01153:Nol4
|
APN |
18 |
22,902,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01400:Nol4
|
APN |
18 |
22,956,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02006:Nol4
|
APN |
18 |
23,054,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Nol4
|
APN |
18 |
22,903,926 (GRCm39) |
splice site |
probably benign |
|
|
IGL02501:Nol4
|
APN |
18 |
22,956,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Nol4
|
UTSW |
18 |
23,172,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Nol4
|
UTSW |
18 |
23,054,915 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0097:Nol4
|
UTSW |
18 |
22,852,198 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0097:Nol4
|
UTSW |
18 |
22,852,198 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1793:Nol4
|
UTSW |
18 |
22,902,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Nol4
|
UTSW |
18 |
22,956,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Nol4
|
UTSW |
18 |
23,172,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2414:Nol4
|
UTSW |
18 |
22,956,629 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2427:Nol4
|
UTSW |
18 |
22,983,755 (GRCm39) |
intron |
probably benign |
|
|
R3713:Nol4
|
UTSW |
18 |
23,172,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Nol4
|
UTSW |
18 |
22,903,921 (GRCm39) |
splice site |
probably benign |
|
|
R3803:Nol4
|
UTSW |
18 |
22,828,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4458:Nol4
|
UTSW |
18 |
22,885,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4736:Nol4
|
UTSW |
18 |
22,852,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Nol4
|
UTSW |
18 |
23,045,683 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4795:Nol4
|
UTSW |
18 |
23,054,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Nol4
|
UTSW |
18 |
22,828,179 (GRCm39) |
makesense |
probably null |
|
|
R5980:Nol4
|
UTSW |
18 |
23,085,258 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6372:Nol4
|
UTSW |
18 |
23,171,613 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6485:Nol4
|
UTSW |
18 |
22,903,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6614:Nol4
|
UTSW |
18 |
23,053,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Nol4
|
UTSW |
18 |
23,053,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Nol4
|
UTSW |
18 |
22,852,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7269:Nol4
|
UTSW |
18 |
23,172,846 (GRCm39) |
missense |
probably benign |
|
|
R7310:Nol4
|
UTSW |
18 |
22,903,801 (GRCm39) |
missense |
|
|
|
R7720:Nol4
|
UTSW |
18 |
23,173,080 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7753:Nol4
|
UTSW |
18 |
23,171,659 (GRCm39) |
start codon destroyed |
probably benign |
0.15 |
|
R7897:Nol4
|
UTSW |
18 |
22,956,400 (GRCm39) |
missense |
|
|
|
R7974:Nol4
|
UTSW |
18 |
22,852,082 (GRCm39) |
nonsense |
probably null |
|
|
R8297:Nol4
|
UTSW |
18 |
23,173,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8303:Nol4
|
UTSW |
18 |
23,173,231 (GRCm39) |
unclassified |
probably benign |
|
|
R8466:Nol4
|
UTSW |
18 |
23,171,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8985:Nol4
|
UTSW |
18 |
23,085,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Nol4
|
UTSW |
18 |
22,903,850 (GRCm39) |
missense |
|
|
|
R9296:Nol4
|
UTSW |
18 |
22,956,388 (GRCm39) |
missense |
|
|
|
R9442:Nol4
|
UTSW |
18 |
22,902,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9456:Nol4
|
UTSW |
18 |
23,172,897 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9469:Nol4
|
UTSW |
18 |
23,085,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9478:Nol4
|
UTSW |
18 |
23,053,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Nol4
|
UTSW |
18 |
22,828,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nol4
|
UTSW |
18 |
23,054,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nol4
|
UTSW |
18 |
22,902,897 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCAGAGGACTAAACTGAGCCC -3'
(R):5'- TTTTCAGTCTCCAGCACACAGCTAC -3'
Sequencing Primer
(F):5'- GGACTAAACTGAGCCCCCTTC -3'
(R):5'- AGCTACTCCAGCTATGACTCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation