Incidental Mutation 'R3803:Nol4'
| ID |
274457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol4
|
| Ensembl Gene |
ENSMUSG00000041923 |
| Gene Name |
nucleolar protein 4 |
| Synonyms |
1700013J13Rik, LOC383304, 4930568N03Rik |
| MMRRC Submission |
040878-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R3803 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
22826238-23174710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22828012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 634
(L634I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081423]
[ENSMUST00000097651]
[ENSMUST00000164186]
[ENSMUST00000164893]
|
| AlphaFold |
P60954 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069215
AA Change: L415I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064166
Gene: ENSMUSG00000041923
AA Change: L415I
| 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: L561I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: L561I
| 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: L351I
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089642
Gene: ENSMUSG00000041923
AA Change: L351I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
| 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: L634I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: L634I
| 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: L570I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: L570I
| 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 |
0.1350 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,522,033 (GRCm39) |
N1263S |
probably benign |
Het |
| Alpk1 |
A |
C |
3: 127,473,486 (GRCm39) |
V839G |
possibly damaging |
Het |
| Als2 |
A |
C |
1: 59,206,358 (GRCm39) |
M1634R |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,329,058 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
C |
T |
1: 92,934,088 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
T |
C |
5: 103,040,308 (GRCm39) |
V508A |
probably damaging |
Het |
| Arhgap9 |
T |
A |
10: 127,165,386 (GRCm39) |
D598E |
possibly damaging |
Het |
| Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,719,796 (GRCm39) |
H437R |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,828,895 (GRCm39) |
E79G |
unknown |
Het |
| Cspp1 |
C |
A |
1: 10,196,598 (GRCm39) |
D157E |
probably damaging |
Het |
| Cyp4f16 |
T |
C |
17: 32,763,858 (GRCm39) |
S217P |
possibly damaging |
Het |
| Ddx50 |
C |
A |
10: 62,475,723 (GRCm39) |
V333F |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,629,551 (GRCm39) |
S193G |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 6,935,293 (GRCm39) |
H4236Q |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,094,474 (GRCm39) |
Y676H |
possibly damaging |
Het |
| Erich6 |
T |
A |
3: 58,528,753 (GRCm39) |
Y499F |
probably damaging |
Het |
| Fa2h |
A |
G |
8: 112,082,030 (GRCm39) |
|
probably null |
Het |
| Fads2b |
A |
T |
2: 85,338,682 (GRCm39) |
|
probably null |
Het |
| Gli1 |
T |
A |
10: 127,173,934 (GRCm39) |
|
probably benign |
Het |
| Gm14403 |
A |
G |
2: 177,200,569 (GRCm39) |
S172G |
probably benign |
Het |
| Grhl1 |
C |
T |
12: 24,634,918 (GRCm39) |
T330M |
probably damaging |
Het |
| Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
| Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,881,789 (GRCm39) |
F335L |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,795,333 (GRCm39) |
A322T |
probably benign |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,441 (GRCm39) |
V231E |
probably damaging |
Het |
| Iapp |
A |
G |
6: 142,249,151 (GRCm39) |
N68S |
probably benign |
Het |
| Kctd4 |
A |
T |
14: 76,200,726 (GRCm39) |
L232F |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,543,679 (GRCm39) |
I783V |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,590 (GRCm39) |
N414K |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,630,736 (GRCm39) |
E337G |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,838,542 (GRCm39) |
K498E |
probably benign |
Het |
| Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,183,992 (GRCm39) |
|
probably benign |
Het |
| Ndrg2 |
C |
A |
14: 52,148,132 (GRCm39) |
|
probably null |
Het |
| Ndufaf3 |
C |
A |
9: 108,444,092 (GRCm39) |
R12L |
probably benign |
Het |
| Npr3 |
C |
T |
15: 11,895,876 (GRCm39) |
A257T |
probably damaging |
Het |
| Nrg3 |
G |
A |
14: 38,098,391 (GRCm39) |
P496S |
probably damaging |
Het |
| Or4g17 |
A |
T |
2: 111,209,638 (GRCm39) |
M98L |
possibly damaging |
Het |
| Or51a7 |
T |
C |
7: 102,615,228 (GRCm39) |
|
probably null |
Het |
| Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,565,416 (GRCm39) |
Q61* |
probably null |
Het |
| Phf19 |
A |
G |
2: 34,789,670 (GRCm39) |
L350P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,356,531 (GRCm39) |
L332P |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,887,321 (GRCm39) |
I500T |
probably damaging |
Het |
| Rgs7 |
T |
A |
1: 175,016,785 (GRCm39) |
I62F |
probably benign |
Het |
| Rttn |
A |
G |
18: 88,995,831 (GRCm39) |
N205D |
probably damaging |
Het |
| Samd8 |
G |
A |
14: 21,825,133 (GRCm39) |
V30M |
probably damaging |
Het |
| Scn7a |
G |
A |
2: 66,510,590 (GRCm39) |
Q1271* |
probably null |
Het |
| Skor1 |
A |
G |
9: 63,052,868 (GRCm39) |
V339A |
probably benign |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,200,295 (GRCm39) |
E130G |
probably damaging |
Het |
| Sorcs2 |
T |
A |
5: 36,555,150 (GRCm39) |
K80N |
probably benign |
Het |
| Stc1 |
T |
C |
14: 69,275,924 (GRCm39) |
I239T |
probably benign |
Het |
| Steap4 |
G |
T |
5: 8,026,979 (GRCm39) |
R314L |
probably damaging |
Het |
| Suclg2 |
A |
T |
6: 95,474,649 (GRCm39) |
I372N |
probably damaging |
Het |
| Trav7d-4 |
A |
T |
14: 53,007,575 (GRCm39) |
K23* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,641,075 (GRCm39) |
L13598P |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 9,907,439 (GRCm39) |
S96P |
probably damaging |
Het |
| Wdr25 |
T |
C |
12: 108,864,479 (GRCm39) |
V208A |
probably damaging |
Het |
| Wdr27 |
C |
T |
17: 15,138,371 (GRCm39) |
V360M |
probably benign |
Het |
| Zfp54 |
T |
C |
17: 21,653,814 (GRCm39) |
C103R |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,256 (GRCm39) |
E679G |
probably damaging |
Het |
| Zfp846 |
A |
G |
9: 20,505,735 (GRCm39) |
I532V |
probably benign |
Het |
| Zkscan2 |
A |
T |
7: 123,094,365 (GRCm39) |
|
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 |
|
|
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'- GCATCTCAAGTACTTCAAGGTCAG -3'
(R):5'- TGTCTAGGACCCACAGATCTGAG -3'
Sequencing Primer
(F):5'- TGTGAAGTTCCTTAACACACCAGGG -3'
(R):5'- CCCACAGATCTGAGCATGAAGAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation