Incidental Mutation 'R5509:Nsun4'
ID |
431066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsun4
|
Ensembl Gene |
ENSMUSG00000028706 |
Gene Name |
NOL1/NOP2/Sun domain family, member 4 |
Synonyms |
2810405F18Rik, 2310010O12Rik |
MMRRC Submission |
043070-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.430)
|
Stock # |
R5509 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
115890202-115911076 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 115908974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 529
(V529I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130430
(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 benign
Transcript: ENSMUST00000030475
|
SMART Domains |
Protein: ENSMUSP00000030475 Gene: ENSMUSG00000028706
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 |
noncoding transcript
Transcript: ENSMUST00000136655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151720
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152712
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165493
AA Change: V529I
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000130430 Gene: ENSMUSG00000028706 AA Change: V529I
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 |
0.1795 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
G |
C |
17: 46,635,185 (GRCm39) |
Q273E |
probably benign |
Het |
Acly |
C |
T |
11: 100,405,805 (GRCm39) |
R329Q |
probably damaging |
Het |
Acsm2 |
T |
C |
7: 119,172,840 (GRCm39) |
S152P |
probably damaging |
Het |
Adamtsl4 |
A |
T |
3: 95,588,667 (GRCm39) |
I515N |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Atp9a |
T |
C |
2: 168,481,857 (GRCm39) |
D879G |
probably damaging |
Het |
Bmp8b |
G |
A |
4: 123,008,369 (GRCm39) |
D112N |
possibly damaging |
Het |
Camk2d |
T |
C |
3: 126,633,965 (GRCm39) |
W496R |
probably damaging |
Het |
Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
Cflar |
T |
C |
1: 58,791,551 (GRCm39) |
F285L |
probably benign |
Het |
Cox16 |
T |
C |
12: 81,519,032 (GRCm39) |
T176A |
probably benign |
Het |
Cux1 |
G |
T |
5: 136,304,171 (GRCm39) |
A1214D |
probably benign |
Het |
Cyb5d1 |
C |
A |
11: 69,284,561 (GRCm39) |
|
probably null |
Het |
Dennd6b |
G |
A |
15: 89,069,225 (GRCm39) |
P575S |
probably damaging |
Het |
Fbxl2 |
A |
T |
9: 113,814,415 (GRCm39) |
|
probably null |
Het |
Gfpt2 |
T |
C |
11: 49,717,973 (GRCm39) |
F483L |
possibly damaging |
Het |
Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
Invs |
G |
A |
4: 48,396,337 (GRCm39) |
V281M |
probably damaging |
Het |
Kif13a |
G |
A |
13: 46,905,591 (GRCm39) |
A784V |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,737,557 (GRCm39) |
|
probably benign |
Het |
Lmod2 |
A |
G |
6: 24,603,888 (GRCm39) |
T288A |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,391,361 (GRCm39) |
K1355E |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,922,818 (GRCm39) |
S1300T |
probably benign |
Het |
Mdm2 |
A |
C |
10: 117,526,517 (GRCm39) |
D307E |
probably damaging |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Mroh4 |
T |
C |
15: 74,478,003 (GRCm39) |
Y901C |
probably benign |
Het |
Mtmr14 |
G |
T |
6: 113,230,768 (GRCm39) |
|
probably null |
Het |
Mug2 |
A |
T |
6: 122,061,340 (GRCm39) |
Q1420L |
possibly damaging |
Het |
Net1 |
T |
C |
13: 3,934,320 (GRCm39) |
Q459R |
probably benign |
Het |
Nle1 |
T |
C |
11: 82,794,008 (GRCm39) |
R343G |
possibly damaging |
Het |
Npat |
C |
A |
9: 53,481,542 (GRCm39) |
N1083K |
probably benign |
Het |
Nrp1 |
G |
A |
8: 129,152,396 (GRCm39) |
G202R |
possibly damaging |
Het |
Or4b1d |
T |
A |
2: 89,969,236 (GRCm39) |
L82F |
probably damaging |
Het |
Or4z4 |
T |
A |
19: 12,076,341 (GRCm39) |
I221F |
possibly damaging |
Het |
Or5b117 |
A |
T |
19: 13,431,332 (GRCm39) |
L183Q |
probably damaging |
Het |
Or8g21 |
T |
C |
9: 38,905,924 (GRCm39) |
D269G |
probably benign |
Het |
Podxl |
A |
T |
6: 31,503,548 (GRCm39) |
N264K |
probably benign |
Het |
Ptprm |
C |
T |
17: 66,996,353 (GRCm39) |
A1245T |
probably damaging |
Het |
Rdh12 |
T |
A |
12: 79,257,558 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,760,487 (GRCm39) |
Y1532F |
probably damaging |
Het |
Senp2 |
T |
C |
16: 21,859,272 (GRCm39) |
F441S |
probably damaging |
Het |
Snap23 |
C |
A |
2: 120,425,346 (GRCm39) |
P111T |
probably benign |
Het |
Sox2 |
A |
G |
3: 34,704,938 (GRCm39) |
D125G |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,968,018 (GRCm39) |
W923R |
probably damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,101,022 (GRCm39) |
E656G |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,492,838 (GRCm39) |
T892A |
probably benign |
Het |
Tg |
A |
G |
15: 66,699,142 (GRCm39) |
I24V |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,964,622 (GRCm39) |
K1372N |
probably damaging |
Het |
Ubc |
A |
T |
5: 125,464,339 (GRCm39) |
N329K |
probably benign |
Het |
Vmn2r106 |
T |
A |
17: 20,498,684 (GRCm39) |
H409L |
probably damaging |
Het |
Wdfy3 |
T |
A |
5: 102,009,314 (GRCm39) |
N2751Y |
possibly damaging |
Het |
Zfp518a |
T |
A |
19: 40,903,845 (GRCm39) |
I1258K |
possibly damaging |
Het |
Zfp91 |
T |
C |
19: 12,756,451 (GRCm39) |
E131G |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,293,295 (GRCm39) |
R2027W |
probably 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 |
|
R4166:Nsun4
|
UTSW |
4 |
115,891,248 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- ACCCCTGGGAGCAGAATAAG -3'
(R):5'- TGTCGGTCCCTAGACAATACAC -3'
Sequencing Primer
(F):5'- TGCCACAAGGGAGAACCGC -3'
(R):5'- GGTCCCTAGACAATACACCCCAC -3'
|
Posted On |
2016-10-05 |