Incidental Mutation 'R4458:Nol4'
ID |
330042 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nol4
|
Ensembl Gene |
ENSMUSG00000041923 |
Gene Name |
nucleolar protein 4 |
Synonyms |
1700013J13Rik, LOC383304, 4930568N03Rik |
MMRRC Submission |
041718-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.452)
|
Stock # |
R4458 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
22826238-23174710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22885052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 419
(I419V)
|
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: I273V
|
SMART Domains |
Protein: ENSMUSP00000064166 Gene: ENSMUSG00000041923 AA Change: I273V
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: I419V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000080150 Gene: ENSMUSG00000041923 AA Change: I419V
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: I209V
|
SMART Domains |
Protein: ENSMUSP00000089642 Gene: ENSMUSG00000041923 AA Change: I209V
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 |
possibly damaging
Transcript: ENSMUST00000097651
AA Change: I428V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000095256 Gene: ENSMUSG00000041923 AA Change: I428V
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: I492V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130950 Gene: ENSMUSG00000041923 AA Change: I492V
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: I428V
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127870 Gene: ENSMUSG00000041923 AA Change: I428V
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630076J17Rik |
G |
A |
3: 107,139,997 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,801,550 (GRCm39) |
I56N |
possibly damaging |
Het |
Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,564,740 (GRCm39) |
N570K |
probably benign |
Het |
Arid1b |
A |
T |
17: 5,293,191 (GRCm39) |
Q703L |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Cad |
T |
A |
5: 31,218,570 (GRCm39) |
V499D |
probably damaging |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Celsr2 |
A |
C |
3: 108,302,313 (GRCm39) |
I2605S |
probably damaging |
Het |
Chd6 |
T |
A |
2: 160,871,796 (GRCm39) |
Y213F |
possibly damaging |
Het |
Clec18a |
T |
A |
8: 111,802,102 (GRCm39) |
T296S |
probably damaging |
Het |
Crybg2 |
C |
T |
4: 133,802,205 (GRCm39) |
P1122S |
probably benign |
Het |
Cyld |
G |
T |
8: 89,445,929 (GRCm39) |
S309I |
probably benign |
Het |
Dctn5 |
G |
T |
7: 121,734,303 (GRCm39) |
R49L |
probably damaging |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Erbin |
C |
A |
13: 103,970,065 (GRCm39) |
V1184F |
probably damaging |
Het |
Ercc2 |
G |
T |
7: 19,127,771 (GRCm39) |
R406L |
probably damaging |
Het |
Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
Flad1 |
T |
C |
3: 89,316,241 (GRCm39) |
H107R |
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
Gabbr1 |
G |
T |
17: 37,378,667 (GRCm39) |
|
probably null |
Het |
Haghl |
A |
T |
17: 26,003,994 (GRCm39) |
V30E |
probably damaging |
Het |
Itga5 |
C |
T |
15: 103,258,630 (GRCm39) |
E822K |
probably damaging |
Het |
Klhl26 |
T |
A |
8: 70,905,342 (GRCm39) |
E108D |
possibly damaging |
Het |
Kpnb1 |
A |
T |
11: 97,059,996 (GRCm39) |
L558Q |
probably damaging |
Het |
Lias |
T |
C |
5: 65,551,383 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
A |
T |
17: 75,583,502 (GRCm39) |
K434M |
possibly damaging |
Het |
Marchf1 |
C |
A |
8: 66,908,823 (GRCm39) |
A177E |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
Nol6 |
A |
G |
4: 41,115,888 (GRCm39) |
L1068P |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,606,513 (GRCm39) |
S420P |
probably damaging |
Het |
Or10c1 |
A |
T |
17: 37,522,204 (GRCm39) |
I180N |
possibly damaging |
Het |
Pitpnm2 |
T |
C |
5: 124,259,439 (GRCm39) |
T1299A |
probably benign |
Het |
Prdm16 |
A |
G |
4: 154,406,765 (GRCm39) |
V1220A |
probably benign |
Het |
Saraf |
T |
C |
8: 34,621,870 (GRCm39) |
S25P |
unknown |
Het |
Serpine3 |
C |
A |
14: 62,911,922 (GRCm39) |
L295I |
probably damaging |
Het |
Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
Surf6 |
T |
C |
2: 26,782,721 (GRCm39) |
E202G |
probably benign |
Het |
Tent5a |
T |
C |
9: 85,208,527 (GRCm39) |
I99V |
possibly damaging |
Het |
Th |
A |
T |
7: 142,450,690 (GRCm39) |
D135E |
probably benign |
Het |
Traf1 |
A |
G |
2: 34,835,445 (GRCm39) |
Y326H |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,727,008 (GRCm39) |
A66T |
probably benign |
Het |
Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,798,396 (GRCm39) |
V367A |
probably benign |
Het |
Uspl1 |
T |
A |
5: 149,150,962 (GRCm39) |
S707T |
possibly damaging |
Het |
Utp18 |
A |
G |
11: 93,761,359 (GRCm39) |
S350P |
possibly damaging |
Het |
Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
Vmn1r229 |
A |
G |
17: 21,034,894 (GRCm39) |
I46M |
probably damaging |
Het |
Vnn3 |
T |
C |
10: 23,741,567 (GRCm39) |
Y291H |
probably benign |
Het |
Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
Wrn |
T |
A |
8: 33,785,026 (GRCm39) |
T692S |
probably damaging |
Het |
Yeats2 |
T |
C |
16: 20,032,071 (GRCm39) |
I19T |
probably damaging |
Het |
Zfp13 |
G |
A |
17: 23,800,150 (GRCm39) |
A36V |
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 |
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 |
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'- TCTCGATCATCAGAGCATAGC -3'
(R):5'- GGTGCATCTGTGTAGCAGCTATAG -3'
Sequencing Primer
(F):5'- CGATCATCAGAGCATAGCATTTTTC -3'
(R):5'- GCTATAGCTCTAACCTCTAACTAGC -3'
|
Posted On |
2015-07-21 |