Incidental Mutation 'R4277:Nsun4'
ID |
322734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsun4
|
Ensembl Gene |
ENSMUSG00000028706 |
Gene Name |
NOL1/NOP2/Sun domain family, member 4 |
Synonyms |
2810405F18Rik, 2310010O12Rik |
MMRRC Submission |
041078-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.430)
|
Stock # |
R4277 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115890202-115911076 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 115891479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 300
(G300D)
|
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: G300D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030475 Gene: ENSMUSG00000028706 AA Change: G300D
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 |
0.9744 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b7 |
A |
G |
6: 34,397,955 (GRCm39) |
|
probably benign |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
T |
A |
1: 109,993,418 (GRCm39) |
I291K |
probably benign |
Het |
Cdhr3 |
T |
G |
12: 33,110,232 (GRCm39) |
S351R |
probably null |
Het |
Dnah10 |
T |
C |
5: 124,809,394 (GRCm39) |
S221P |
probably benign |
Het |
Dstyk |
G |
A |
1: 132,383,151 (GRCm39) |
|
probably null |
Het |
Ern1 |
T |
C |
11: 106,298,007 (GRCm39) |
I705V |
probably benign |
Het |
Folh1 |
A |
G |
7: 86,412,123 (GRCm39) |
|
probably null |
Het |
Hemk1 |
A |
G |
9: 107,205,728 (GRCm39) |
Y260H |
possibly damaging |
Het |
Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
Ldhc |
G |
A |
7: 46,515,890 (GRCm39) |
A62T |
probably benign |
Het |
Ndufs1 |
C |
T |
1: 63,209,256 (GRCm39) |
V36I |
possibly damaging |
Het |
Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
Ntn4 |
T |
C |
10: 93,577,072 (GRCm39) |
I580T |
possibly damaging |
Het |
Or7d10 |
A |
G |
9: 19,831,685 (GRCm39) |
Y60C |
possibly damaging |
Het |
Rasal2 |
A |
T |
1: 156,984,696 (GRCm39) |
I992N |
possibly damaging |
Het |
Rasgrp4 |
T |
A |
7: 28,852,019 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
Spp2 |
T |
C |
1: 88,338,873 (GRCm39) |
F79L |
probably damaging |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Trpv3 |
A |
G |
11: 73,187,264 (GRCm39) |
T699A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
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 |
|
R4166:Nsun4
|
UTSW |
4 |
115,891,248 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- CAGTTTGCAGAAGTACATAGGTCC -3'
(R):5'- ATCCAGCAAGGCTCCTAGAG -3'
Sequencing Primer
(F):5'- CATAGGTCCAAAATTGACCATGAG -3'
(R):5'- AGGAAAGCCTCATCTTCTGC -3'
|
Posted On |
2015-06-20 |