Incidental Mutation 'R9478:Nol4'
| ID |
715962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol4
|
| Ensembl Gene |
ENSMUSG00000041923 |
| Gene Name |
nucleolar protein 4 |
| Synonyms |
1700013J13Rik, LOC383304, 4930568N03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R9478 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
22826238-23174710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23053934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 120
(P120S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081423]
[ENSMUST00000097651]
[ENSMUST00000164186]
[ENSMUST00000164893]
[ENSMUST00000165323]
|
| AlphaFold |
P60954 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081423
AA Change: P120S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: P120S
| 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 damaging
Transcript: ENSMUST00000097651
AA Change: P193S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: P193S
| 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: P193S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: P193S
| 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: P193S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: P193S
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165323
AA Change: P79S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125860
Gene: ENSMUSG00000041923
AA Change: P79S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,451,573 (GRCm39) |
I886F |
possibly damaging |
Het |
| 3100002H09Rik |
A |
G |
4: 124,504,151 (GRCm39) |
S134P |
unknown |
Het |
| Abcf2 |
A |
G |
5: 24,770,940 (GRCm39) |
L604P |
possibly damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atg14 |
G |
T |
14: 47,783,138 (GRCm39) |
H373Q |
probably damaging |
Het |
| Atmin |
C |
T |
8: 117,681,537 (GRCm39) |
H179Y |
probably damaging |
Het |
| Catsperg1 |
G |
T |
7: 28,897,777 (GRCm39) |
P197T |
possibly damaging |
Het |
| Ccdc7b |
C |
T |
8: 129,837,473 (GRCm39) |
Q155* |
probably null |
Het |
| Cep85l |
T |
G |
10: 53,224,875 (GRCm39) |
E238A |
possibly damaging |
Het |
| Cfap119 |
T |
C |
7: 127,184,087 (GRCm39) |
|
probably null |
Het |
| Cntln |
G |
A |
4: 84,897,630 (GRCm39) |
V406I |
probably benign |
Het |
| Csf2rb2 |
C |
A |
15: 78,168,965 (GRCm39) |
G730V |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,034,997 (GRCm39) |
L225Q |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,367,962 (GRCm39) |
F511I |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,531,008 (GRCm39) |
Y453F |
|
Het |
| Dync1h1 |
T |
C |
12: 110,625,137 (GRCm39) |
F3829L |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Esco2 |
C |
A |
14: 66,068,657 (GRCm39) |
G218* |
probably null |
Het |
| Gale |
C |
T |
4: 135,692,574 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,766,029 (GRCm39) |
D55G |
possibly damaging |
Het |
| Il17ra |
A |
G |
6: 120,451,336 (GRCm39) |
D170G |
possibly damaging |
Het |
| Inha |
A |
G |
1: 75,486,562 (GRCm39) |
S286G |
probably benign |
Het |
| Kif1b |
C |
T |
4: 149,345,616 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
G |
16: 19,941,763 (GRCm39) |
S570R |
possibly damaging |
Het |
| Krt87 |
G |
A |
15: 101,385,449 (GRCm39) |
R308W |
probably benign |
Het |
| Lama2 |
T |
A |
10: 26,891,478 (GRCm39) |
E2545V |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,537,167 (GRCm39) |
K165E |
possibly damaging |
Het |
| Mab21l3 |
A |
T |
3: 101,725,987 (GRCm39) |
D336E |
probably damaging |
Het |
| Matn2 |
T |
C |
15: 34,345,242 (GRCm39) |
I83T |
probably damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,812,941 (GRCm39) |
D458G |
probably benign |
Het |
| Ncbp3 |
A |
G |
11: 72,968,768 (GRCm39) |
D513G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,078,788 (GRCm39) |
K5818N |
probably benign |
Het |
| Oit3 |
C |
A |
10: 59,274,464 (GRCm39) |
C112F |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,051 (GRCm39) |
T61S |
probably benign |
Het |
| Or4b1 |
C |
A |
2: 89,979,595 (GRCm39) |
A252S |
possibly damaging |
Het |
| Or5p52 |
G |
A |
7: 107,502,238 (GRCm39) |
V105M |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,960 (GRCm39) |
M176K |
possibly damaging |
Het |
| Pank4 |
G |
A |
4: 155,064,565 (GRCm39) |
R708Q |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,606,825 (GRCm39) |
L1026F |
probably benign |
Het |
| Poglut3 |
T |
C |
9: 53,303,236 (GRCm39) |
F232L |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,197,573 (GRCm39) |
I772N |
probably damaging |
Het |
| Purb |
A |
G |
11: 6,425,424 (GRCm39) |
F155L |
probably damaging |
Het |
| Rcor2 |
C |
T |
19: 7,248,794 (GRCm39) |
R256W |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,417,545 (GRCm39) |
L1189P |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,156,493 (GRCm39) |
E472G |
probably benign |
Het |
| Sema3e |
T |
C |
5: 14,286,386 (GRCm39) |
Y536H |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,672 (GRCm39) |
I331F |
possibly damaging |
Het |
| Sertad3 |
T |
C |
7: 27,175,679 (GRCm39) |
S38P |
probably damaging |
Het |
| Sfrp4 |
G |
T |
13: 19,807,610 (GRCm39) |
R3L |
unknown |
Het |
| Slc35a5 |
T |
C |
16: 44,964,426 (GRCm39) |
E269G |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,993 (GRCm39) |
|
probably null |
Het |
| Sumo1 |
A |
G |
1: 59,694,615 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,154,387 (GRCm39) |
K2020E |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,601,740 (GRCm39) |
T247S |
probably benign |
Het |
| Tgds |
T |
C |
14: 118,352,544 (GRCm39) |
D290G |
possibly damaging |
Het |
| Trav7d-3 |
A |
T |
14: 52,982,054 (GRCm39) |
I32F |
possibly damaging |
Het |
| Vps41 |
A |
G |
13: 19,046,913 (GRCm39) |
N788D |
|
Het |
| Zfp521 |
G |
A |
18: 13,950,372 (GRCm39) |
T1194I |
probably damaging |
Het |
| Zmynd8 |
C |
A |
2: 165,649,569 (GRCm39) |
K841N |
probably 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 |
|
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 |
|
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 |
|
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'- CAGTGAGGTCCTGGTGAAATTTC -3'
(R):5'- CTGCTCATGGACATTTGCTTG -3'
Sequencing Primer
(F):5'- AGGTCCTGGTGAAATTTCTTTTC -3'
(R):5'- GCAGTTCATTTATAGAGTTTTCTTGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation