Incidental Mutation 'R2101:Nol4'
ID |
230539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nol4
|
Ensembl Gene |
ENSMUSG00000041923 |
Gene Name |
nucleolar protein 4 |
Synonyms |
1700013J13Rik, LOC383304, 4930568N03Rik |
MMRRC Submission |
040105-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.452)
|
Stock # |
R2101 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
22826238-23174710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22956466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 239
(S239P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081423]
[ENSMUST00000097651]
[ENSMUST00000164186]
[ENSMUST00000164893]
|
AlphaFold |
P60954 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069215
AA Change: S93P
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000064166 Gene: ENSMUSG00000041923 AA Change: S93P
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: S239P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080150 Gene: ENSMUSG00000041923 AA Change: S239P
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 |
probably benign
Transcript: ENSMUST00000092015
AA Change: S93P
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000089642 Gene: ENSMUSG00000041923 AA Change: S93P
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 benign
Transcript: ENSMUST00000097651
AA Change: S312P
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000095256 Gene: ENSMUSG00000041923 AA Change: S312P
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 benign
Transcript: ENSMUST00000164186
AA Change: S312P
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000130950 Gene: ENSMUSG00000041923 AA Change: S312P
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 |
noncoding transcript
Transcript: ENSMUST00000164521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164893
AA Change: S312P
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000127870 Gene: ENSMUSG00000041923 AA Change: S312P
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 |
|
Meta Mutation Damage Score |
0.0727 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
G |
A |
2: 103,397,207 (GRCm39) |
A46T |
probably benign |
Het |
Agap3 |
T |
A |
5: 24,692,797 (GRCm39) |
L47Q |
probably damaging |
Het |
Apaf1 |
T |
G |
10: 90,895,942 (GRCm39) |
I377L |
probably benign |
Het |
Astn2 |
G |
A |
4: 65,499,923 (GRCm39) |
R937* |
probably null |
Het |
Cacnb1 |
A |
C |
11: 97,896,554 (GRCm39) |
V369G |
probably damaging |
Het |
Cdc42bpa |
G |
T |
1: 179,974,533 (GRCm39) |
V1464L |
probably benign |
Het |
Cdkn2aip |
A |
T |
8: 48,166,036 (GRCm39) |
M90K |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,239,877 (GRCm39) |
D1650E |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,783,699 (GRCm39) |
T639A |
probably damaging |
Het |
Cluh |
G |
T |
11: 74,551,328 (GRCm39) |
|
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Col11a2 |
A |
T |
17: 34,271,143 (GRCm39) |
D528V |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,133,270 (GRCm39) |
L810P |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 103,979,175 (GRCm39) |
V2084A |
probably damaging |
Het |
Dcc |
G |
A |
18: 71,943,941 (GRCm39) |
H237Y |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,393,679 (GRCm39) |
F38L |
probably damaging |
Het |
Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
Dock5 |
G |
T |
14: 68,031,459 (GRCm39) |
F990L |
probably benign |
Het |
Dpy19l1 |
A |
T |
9: 24,393,331 (GRCm39) |
V146E |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,411,549 (GRCm39) |
T1776A |
probably benign |
Het |
Enpep |
C |
T |
3: 129,092,587 (GRCm39) |
S532N |
probably benign |
Het |
Gdf6 |
A |
G |
4: 9,860,025 (GRCm39) |
D369G |
probably damaging |
Het |
Gtf2b |
T |
C |
3: 142,477,144 (GRCm39) |
|
probably benign |
Het |
Hmbox1 |
A |
G |
14: 65,066,028 (GRCm39) |
|
probably benign |
Het |
Hps3 |
C |
A |
3: 20,066,947 (GRCm39) |
V540F |
possibly damaging |
Het |
Hsd3b6 |
T |
A |
3: 98,713,553 (GRCm39) |
I249F |
possibly damaging |
Het |
Hunk |
T |
A |
16: 90,229,388 (GRCm39) |
|
probably null |
Het |
Kidins220 |
T |
A |
12: 25,107,422 (GRCm39) |
L1625Q |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Myo10 |
T |
A |
15: 25,722,345 (GRCm39) |
L186Q |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,948,224 (GRCm39) |
W285R |
probably damaging |
Het |
Nat8l |
T |
C |
5: 34,155,716 (GRCm39) |
L124P |
probably damaging |
Het |
Nemp2 |
T |
C |
1: 52,680,225 (GRCm39) |
|
probably null |
Het |
Nkain2 |
G |
A |
10: 32,205,813 (GRCm39) |
T74I |
possibly damaging |
Het |
Or4c118 |
T |
A |
2: 88,975,301 (GRCm39) |
E22V |
probably benign |
Het |
Pcbp3 |
T |
C |
10: 76,625,589 (GRCm39) |
I152V |
possibly damaging |
Het |
Pcp4l1 |
G |
T |
1: 171,003,174 (GRCm39) |
P10Q |
probably damaging |
Het |
Pla1a |
T |
C |
16: 38,235,730 (GRCm39) |
N135D |
probably damaging |
Het |
Plb1 |
T |
A |
5: 32,507,004 (GRCm39) |
M1193K |
probably damaging |
Het |
Prc1 |
T |
C |
7: 79,962,032 (GRCm39) |
V73A |
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,603,490 (GRCm39) |
W807R |
probably damaging |
Het |
Prp2rt |
G |
T |
13: 97,235,730 (GRCm39) |
R6S |
probably damaging |
Het |
Ptprb |
C |
T |
10: 116,150,943 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,559 (GRCm39) |
I993V |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,704,092 (GRCm39) |
V2046A |
probably benign |
Het |
Rnpep |
G |
T |
1: 135,199,355 (GRCm39) |
N334K |
probably damaging |
Het |
Sarm1 |
G |
A |
11: 78,366,115 (GRCm39) |
P695S |
probably damaging |
Het |
Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
Slc38a10 |
A |
T |
11: 120,023,567 (GRCm39) |
V283E |
probably damaging |
Het |
Slco6c1 |
A |
T |
1: 97,000,595 (GRCm39) |
L552* |
probably null |
Het |
Tas2r136 |
T |
C |
6: 132,754,495 (GRCm39) |
M211V |
probably benign |
Het |
Tax1bp3 |
G |
A |
11: 73,071,947 (GRCm39) |
D65N |
probably damaging |
Het |
Tdrd5 |
A |
G |
1: 156,129,209 (GRCm39) |
F167S |
probably damaging |
Het |
Tfeb |
G |
A |
17: 48,100,590 (GRCm39) |
V269M |
probably damaging |
Het |
Tspan12 |
A |
T |
6: 21,799,887 (GRCm39) |
F153L |
probably benign |
Het |
Txnrd1 |
T |
G |
10: 82,717,573 (GRCm39) |
L186V |
probably damaging |
Het |
Upk1b |
A |
T |
16: 38,600,499 (GRCm39) |
C160* |
probably null |
Het |
Uty |
T |
C |
Y: 1,176,541 (GRCm39) |
Q172R |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,437 (GRCm39) |
K114E |
possibly damaging |
Het |
Vmn2r99 |
T |
G |
17: 19,598,253 (GRCm39) |
N92K |
probably damaging |
Het |
Vstm2a |
T |
A |
11: 16,213,191 (GRCm39) |
M192K |
probably benign |
Het |
Zc3h12c |
A |
G |
9: 52,027,721 (GRCm39) |
V547A |
probably benign |
Het |
Zfp944 |
T |
A |
17: 22,558,809 (GRCm39) |
N146I |
probably benign |
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 |
R1257:Nol4
|
UTSW |
18 |
22,903,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Nol4
|
UTSW |
18 |
22,902,878 (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'- ACTTGGCTCTATTAACCCTGAC -3'
(R):5'- CCATCTTTCAGAACTTAGTCAACAC -3'
Sequencing Primer
(F):5'- TGGCTCTATTAACCCTGACATAAC -3'
(R):5'- GTCAATCTTTCTTCCTAACAGATGAC -3'
|
Posted On |
2014-09-18 |