Incidental Mutation 'R5980:Nol4'
| ID |
481405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol4
|
| Ensembl Gene |
ENSMUSG00000041923 |
| Gene Name |
nucleolar protein 4 |
| Synonyms |
1700013J13Rik, LOC383304, 4930568N03Rik |
| MMRRC Submission |
044162-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R5980 (G1)
|
| Quality Score |
175.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
22826238-23174710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23085258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 52
(Q52L)
|
| 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: Q52L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080150
Gene: ENSMUSG00000041923
AA Change: Q52L
| 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 |
possibly damaging
Transcript: ENSMUST00000097651
AA Change: Q125L
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095256
Gene: ENSMUSG00000041923
AA Change: Q125L
| 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 |
noncoding transcript
Transcript: ENSMUST00000097652
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164186
AA Change: Q125L
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130950
Gene: ENSMUSG00000041923
AA Change: Q125L
| 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 |
possibly damaging
Transcript: ENSMUST00000164893
AA Change: Q125L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127870
Gene: ENSMUSG00000041923
AA Change: Q125L
| 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 benign
Transcript: ENSMUST00000165323
AA Change: Q11L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125860
Gene: ENSMUSG00000041923
AA Change: Q11L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0690 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,544,018 (GRCm39) |
N508D |
possibly damaging |
Het |
| Ago1 |
C |
T |
4: 126,354,362 (GRCm39) |
|
probably benign |
Het |
| Apol6 |
A |
T |
15: 76,935,219 (GRCm39) |
T163S |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,247,095 (GRCm39) |
T33A |
probably benign |
Het |
| Atg7 |
C |
A |
6: 114,657,197 (GRCm39) |
F132L |
possibly damaging |
Het |
| Cep104 |
C |
A |
4: 154,072,930 (GRCm39) |
A396E |
probably benign |
Het |
| Cers4 |
T |
A |
8: 4,568,269 (GRCm39) |
C107* |
probably null |
Het |
| Cntn6 |
T |
C |
6: 104,825,093 (GRCm39) |
S878P |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,158,705 (GRCm39) |
K633E |
probably benign |
Het |
| Dst |
T |
A |
1: 34,221,972 (GRCm39) |
I2592K |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,881,595 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,157,324 (GRCm39) |
C2320R |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,928,351 (GRCm39) |
|
probably null |
Het |
| Gse1 |
T |
G |
8: 120,956,376 (GRCm39) |
|
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,315,295 (GRCm39) |
H708Q |
probably benign |
Het |
| Igkv10-95 |
T |
C |
6: 68,657,573 (GRCm39) |
S10P |
probably damaging |
Het |
| Igkv14-100 |
T |
C |
6: 68,496,009 (GRCm39) |
V5A |
probably benign |
Het |
| Irgq |
G |
A |
7: 24,232,770 (GRCm39) |
G204S |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,234,463 (GRCm39) |
K681R |
possibly damaging |
Het |
| Kcnv1 |
C |
A |
15: 44,972,810 (GRCm39) |
V358L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,349 (GRCm39) |
S275T |
probably damaging |
Het |
| Lysmd1 |
A |
T |
3: 95,045,219 (GRCm39) |
D155V |
probably damaging |
Het |
| Magel2 |
A |
T |
7: 62,030,344 (GRCm39) |
I1083F |
unknown |
Het |
| Mta3 |
T |
A |
17: 84,015,834 (GRCm39) |
V12D |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,494,977 (GRCm39) |
I423T |
probably damaging |
Het |
| Mup11 |
A |
G |
4: 60,616,887 (GRCm39) |
Y16H |
possibly damaging |
Het |
| Mycbp |
G |
A |
4: 123,804,889 (GRCm39) |
V91I |
probably benign |
Het |
| Ngly1 |
A |
C |
14: 16,270,509 (GRCm38) |
Q72P |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,618,416 (GRCm39) |
V808A |
probably damaging |
Het |
| Or10p22 |
A |
G |
10: 128,826,309 (GRCm39) |
H176R |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,509 (GRCm39) |
F238Y |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,141 (GRCm39) |
L207* |
probably null |
Het |
| Pate10 |
A |
C |
9: 35,652,911 (GRCm39) |
D51A |
probably damaging |
Het |
| Pik3c2b |
C |
A |
1: 133,016,046 (GRCm39) |
D869E |
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 22,167,546 (GRCm39) |
S606P |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,613,770 (GRCm39) |
R517* |
probably null |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,401 (GRCm39) |
|
probably null |
Het |
| Saraf |
T |
A |
8: 34,632,541 (GRCm39) |
F207I |
probably benign |
Het |
| Sema6d |
A |
G |
2: 124,506,628 (GRCm39) |
D874G |
probably damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,190,411 (GRCm39) |
L14M |
unknown |
Het |
| Sidt1 |
A |
T |
16: 44,083,675 (GRCm39) |
C485* |
probably null |
Het |
| Sptbn4 |
A |
G |
7: 27,071,596 (GRCm39) |
Y1618H |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,662,716 (GRCm39) |
Q127R |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Ticrr |
G |
A |
7: 79,310,703 (GRCm39) |
A206T |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,662 (GRCm39) |
I820F |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,511,520 (GRCm39) |
Y433H |
probably damaging |
Het |
| Trim68 |
A |
G |
7: 102,328,038 (GRCm39) |
V305A |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,480 (GRCm39) |
Y163F |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,626 (GRCm39) |
H291Q |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,661,624 (GRCm39) |
I457V |
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 |
|
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 |
|
|
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'- CCCTGATGTGATCAAGGCTG -3'
(R):5'- ACAGAGCTATGTGATTGCTAGG -3'
Sequencing Primer
(F):5'- ATGTGATCAAGGCTGTACTGAATG -3'
(R):5'- CAGAGCTATGTGATTGCTAGGTATGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation