Incidental Mutation 'R4166:Nsun4'
ID |
320570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsun4
|
Ensembl Gene |
ENSMUSG00000028706 |
Gene Name |
NOL1/NOP2/Sun domain family, member 4 |
Synonyms |
2810405F18Rik, 2310010O12Rik |
MMRRC Submission |
041639-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.430)
|
Stock # |
R4166 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115890202-115911076 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115891248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 377
(L377Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030475
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030474]
[ENSMUST00000030475]
[ENSMUST00000165493]
|
AlphaFold |
C4P6S0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030474
|
SMART Domains |
Protein: ENSMUSP00000030474 Gene: ENSMUSG00000028706
Domain | Start | End | E-Value | Type |
Pfam:Nol1_Nop2_Fmu
|
28 |
199 |
3.9e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030475
AA Change: L377Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030475 Gene: ENSMUSG00000028706 AA Change: L377Q
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
Pfam:Nol1_Nop2_Fmu
|
163 |
356 |
9.7e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165493
|
SMART Domains |
Protein: ENSMUSP00000130430 Gene: ENSMUSG00000028706
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
124 |
N/A |
INTRINSIC |
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
low complexity region
|
476 |
490 |
N/A |
INTRINSIC |
low complexity region
|
553 |
565 |
N/A |
INTRINSIC |
low complexity region
|
572 |
596 |
N/A |
INTRINSIC |
low complexity region
|
677 |
700 |
N/A |
INTRINSIC |
low complexity region
|
710 |
723 |
N/A |
INTRINSIC |
low complexity region
|
733 |
756 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,382,912 (GRCm39) |
T1018A |
possibly damaging |
Het |
Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
Ankrd35 |
T |
A |
3: 96,586,471 (GRCm39) |
|
probably null |
Het |
Arhgap20 |
G |
A |
9: 51,738,135 (GRCm39) |
|
probably null |
Het |
Bhmt |
T |
A |
13: 93,762,007 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
C |
A |
2: 24,567,923 (GRCm39) |
R1055L |
probably benign |
Het |
Cdk5r1 |
A |
G |
11: 80,369,035 (GRCm39) |
Y234C |
probably damaging |
Het |
Cdx2 |
G |
T |
5: 147,243,539 (GRCm39) |
A85D |
possibly damaging |
Het |
Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
Dennd5a |
A |
C |
7: 109,526,032 (GRCm39) |
|
probably null |
Het |
Erich6 |
G |
A |
3: 58,526,229 (GRCm39) |
A591V |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,723,618 (GRCm39) |
V374A |
probably damaging |
Het |
Fmn1 |
G |
A |
2: 113,467,080 (GRCm39) |
S1327N |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,369,442 (GRCm39) |
V1081E |
probably damaging |
Het |
Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
Gulp1 |
T |
A |
1: 44,747,829 (GRCm39) |
Y27* |
probably null |
Het |
Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
Msi2 |
T |
C |
11: 88,237,914 (GRCm39) |
H346R |
probably benign |
Het |
Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
Npr3 |
T |
G |
15: 11,848,599 (GRCm39) |
E202A |
probably benign |
Het |
Oog2 |
A |
C |
4: 143,921,411 (GRCm39) |
H107P |
probably damaging |
Het |
Or14c40 |
C |
A |
7: 86,313,602 (GRCm39) |
T244N |
probably damaging |
Het |
Otof |
A |
G |
5: 30,539,762 (GRCm39) |
L1032P |
probably damaging |
Het |
Pcdh9 |
T |
A |
14: 94,124,956 (GRCm39) |
R405* |
probably null |
Het |
Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
Prol1 |
A |
T |
5: 88,476,530 (GRCm39) |
I307F |
unknown |
Het |
Pycr1 |
T |
C |
11: 120,532,949 (GRCm39) |
I104V |
probably benign |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,335,887 (GRCm39) |
|
probably benign |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Skint3 |
A |
G |
4: 112,112,832 (GRCm39) |
I147M |
possibly damaging |
Het |
Slc22a14 |
T |
G |
9: 119,007,498 (GRCm39) |
M304L |
probably benign |
Het |
Slc22a14 |
T |
C |
9: 119,008,934 (GRCm39) |
N178S |
possibly damaging |
Het |
Slc2a1 |
T |
G |
4: 118,990,313 (GRCm39) |
I179S |
probably damaging |
Het |
Slco2b1 |
G |
T |
7: 99,309,333 (GRCm39) |
T666N |
probably benign |
Het |
Smap1 |
T |
C |
1: 23,887,506 (GRCm39) |
M258V |
probably benign |
Het |
Smr3a |
A |
T |
5: 88,156,013 (GRCm39) |
|
probably benign |
Het |
Stt3b |
T |
A |
9: 115,083,969 (GRCm39) |
E402D |
probably damaging |
Het |
Sync |
T |
C |
4: 129,200,535 (GRCm39) |
|
probably benign |
Het |
Tbx20 |
T |
A |
9: 24,681,040 (GRCm39) |
I151F |
probably damaging |
Het |
Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
Trank1 |
C |
A |
9: 111,202,592 (GRCm39) |
Y1652* |
probably null |
Het |
Trim34a |
T |
A |
7: 103,910,223 (GRCm39) |
C342S |
probably benign |
Het |
Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
Zfp146 |
A |
G |
7: 29,861,865 (GRCm39) |
V59A |
possibly damaging |
Het |
|
Other mutations in Nsun4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
BB009:Nsun4
|
UTSW |
4 |
115,901,997 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Nsun4
|
UTSW |
4 |
115,901,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0089:Nsun4
|
UTSW |
4 |
115,892,970 (GRCm39) |
missense |
probably benign |
0.01 |
R0306:Nsun4
|
UTSW |
4 |
115,910,019 (GRCm39) |
nonsense |
probably null |
|
R0365:Nsun4
|
UTSW |
4 |
115,901,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Nsun4
|
UTSW |
4 |
115,910,147 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1624:Nsun4
|
UTSW |
4 |
115,891,397 (GRCm39) |
missense |
probably benign |
0.05 |
R2058:Nsun4
|
UTSW |
4 |
115,910,877 (GRCm39) |
splice site |
probably null |
|
R2262:Nsun4
|
UTSW |
4 |
115,910,147 (GRCm39) |
missense |
probably benign |
0.27 |
R2438:Nsun4
|
UTSW |
4 |
115,905,794 (GRCm39) |
missense |
probably benign |
0.01 |
R3029:Nsun4
|
UTSW |
4 |
115,909,922 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4012:Nsun4
|
UTSW |
4 |
115,908,259 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4162:Nsun4
|
UTSW |
4 |
115,891,391 (GRCm39) |
nonsense |
probably null |
|
R4277:Nsun4
|
UTSW |
4 |
115,891,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R4433:Nsun4
|
UTSW |
4 |
115,897,327 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4450:Nsun4
|
UTSW |
4 |
115,908,453 (GRCm39) |
nonsense |
probably null |
|
R5077:Nsun4
|
UTSW |
4 |
115,905,781 (GRCm39) |
missense |
probably benign |
0.00 |
R5307:Nsun4
|
UTSW |
4 |
115,891,335 (GRCm39) |
missense |
probably damaging |
0.98 |
R5509:Nsun4
|
UTSW |
4 |
115,908,974 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5510:Nsun4
|
UTSW |
4 |
115,908,974 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6145:Nsun4
|
UTSW |
4 |
115,897,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R6520:Nsun4
|
UTSW |
4 |
115,901,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R6848:Nsun4
|
UTSW |
4 |
115,910,131 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7346:Nsun4
|
UTSW |
4 |
115,909,035 (GRCm39) |
missense |
probably benign |
0.01 |
R7528:Nsun4
|
UTSW |
4 |
115,891,391 (GRCm39) |
nonsense |
probably null |
|
R7560:Nsun4
|
UTSW |
4 |
115,908,691 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7719:Nsun4
|
UTSW |
4 |
115,909,617 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7798:Nsun4
|
UTSW |
4 |
115,908,371 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7868:Nsun4
|
UTSW |
4 |
115,891,329 (GRCm39) |
missense |
probably benign |
|
R7932:Nsun4
|
UTSW |
4 |
115,901,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R8074:Nsun4
|
UTSW |
4 |
115,908,631 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8109:Nsun4
|
UTSW |
4 |
115,909,040 (GRCm39) |
missense |
probably benign |
0.00 |
R9006:Nsun4
|
UTSW |
4 |
115,897,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R9260:Nsun4
|
UTSW |
4 |
115,902,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R9383:Nsun4
|
UTSW |
4 |
115,891,473 (GRCm39) |
missense |
probably benign |
0.02 |
R9592:Nsun4
|
UTSW |
4 |
115,908,852 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAATGGAGCAAGGGCCTTAG -3'
(R):5'- AAGGTGCCATTGAGCTTCTGG -3'
Sequencing Primer
(F):5'- GAGTTAGAAACCTGCTGATAATCCAG -3'
(R):5'- TGAGCTTCTGGCCAATCAATAC -3'
|
Posted On |
2015-06-12 |