Incidental Mutation 'R5077:Nsun4'
| ID |
401926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsun4
|
| Ensembl Gene |
ENSMUSG00000028706 |
| Gene Name |
NOL1/NOP2/Sun domain family, member 4 |
| Synonyms |
2810405F18Rik, 2310010O12Rik |
| MMRRC Submission |
042666-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R5077 (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 115905781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 58
(D58E)
|
| 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 benign
Transcript: ENSMUST00000030475
AA Change: D58E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030475
Gene: ENSMUSG00000028706
AA Change: D58E
| 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 |
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 |
0.0618 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
93% (51/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,080,200 (GRCm39) |
V8A |
possibly damaging |
Het |
| Agbl4 |
A |
T |
4: 111,423,939 (GRCm39) |
M322L |
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,492,522 (GRCm39) |
K231R |
probably benign |
Het |
| Asap1 |
A |
C |
15: 63,999,272 (GRCm39) |
M534R |
probably damaging |
Het |
| B4galnt2 |
T |
A |
11: 95,767,140 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,437,475 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,594,224 (GRCm39) |
I2311M |
probably benign |
Het |
| Capn2 |
G |
T |
1: 182,300,138 (GRCm39) |
D617E |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,385,998 (GRCm39) |
D77G |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,922,098 (GRCm39) |
|
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,820,470 (GRCm39) |
K109E |
probably damaging |
Het |
| Dbx1 |
A |
G |
7: 49,283,242 (GRCm39) |
S223P |
probably damaging |
Het |
| Dlg4 |
A |
G |
11: 69,917,852 (GRCm39) |
N45S |
possibly damaging |
Het |
| Dlgap2 |
T |
G |
8: 14,872,691 (GRCm39) |
V723G |
probably benign |
Het |
| Efl1 |
C |
A |
7: 82,307,295 (GRCm39) |
Q64K |
probably damaging |
Het |
| Eml1 |
T |
A |
12: 108,472,871 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,117 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
A |
T |
2: 98,497,379 (GRCm39) |
L80M |
probably benign |
Het |
| H4c16 |
A |
G |
6: 136,781,113 (GRCm39) |
Y89H |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,239,964 (GRCm39) |
V112E |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,307,797 (GRCm39) |
S123P |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,780,851 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,372,658 (GRCm39) |
V119A |
probably damaging |
Het |
| Naa25 |
G |
A |
5: 121,562,639 (GRCm39) |
V474M |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,379,277 (GRCm39) |
V219E |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,590,274 (GRCm39) |
I523V |
probably benign |
Het |
| Nrp1 |
G |
T |
8: 129,227,154 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
T |
11: 58,934,883 (GRCm39) |
A5249D |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,683 (GRCm39) |
H142Q |
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,874 (GRCm39) |
Y174* |
probably null |
Het |
| Pi4k2a |
T |
C |
19: 42,108,275 (GRCm39) |
|
probably null |
Het |
| Pram1 |
C |
T |
17: 33,863,878 (GRCm39) |
Q572* |
probably null |
Het |
| Prdm5 |
C |
A |
6: 65,756,158 (GRCm39) |
T25K |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,771,439 (GRCm39) |
Y240H |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
| Rbck1 |
A |
C |
2: 152,160,371 (GRCm39) |
M436R |
probably benign |
Het |
| Resf1 |
T |
G |
6: 149,227,528 (GRCm39) |
S191R |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,377,488 (GRCm39) |
N64D |
possibly damaging |
Het |
| Rsph4a |
A |
G |
10: 33,784,275 (GRCm39) |
D299G |
probably damaging |
Het |
| Sema4c |
T |
C |
1: 36,590,812 (GRCm39) |
S480G |
probably benign |
Het |
| Srp68 |
T |
C |
11: 116,136,638 (GRCm39) |
D552G |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 145,707,764 (GRCm39) |
A568S |
probably damaging |
Het |
| Szrd1 |
G |
T |
4: 140,867,092 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
T |
4: 118,226,813 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
A |
G |
15: 57,818,797 (GRCm39) |
E800G |
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,122 (GRCm39) |
|
probably null |
Het |
| Usp37 |
A |
G |
1: 74,480,720 (GRCm39) |
V895A |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,026 (GRCm39) |
I193T |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,834 (GRCm39) |
V283A |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,814,811 (GRCm39) |
G3180D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,821 (GRCm39) |
D2354A |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,723,465 (GRCm39) |
|
probably null |
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 |
|
|
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'- CGAAGATTTGGGCTGCAGTC -3'
(R):5'- ACTTGAATTTGCCTTGGAGGTC -3'
Sequencing Primer
(F):5'- CTGCAGTCCAGGGATGGAG -3'
(R):5'- TTGCCTCCATAAGATCCAGCTGTAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation