Incidental Mutation 'R2435:Nsf'
ID |
249556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsf
|
Ensembl Gene |
ENSMUSG00000034187 |
Gene Name |
N-ethylmaleimide sensitive fusion protein |
Synonyms |
N-ethylmaleimide sensitive factor, SKD2 |
MMRRC Submission |
040396-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2435 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103712608-103844882 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 103821578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 26
(E26K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103075]
[ENSMUST00000133774]
[ENSMUST00000149642]
|
AlphaFold |
P46460 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103075
AA Change: E26K
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099364 Gene: ENSMUSG00000034187 AA Change: E26K
Domain | Start | End | E-Value | Type |
CDC48_N
|
5 |
86 |
2.7e-16 |
SMART |
CDC48_2
|
111 |
183 |
6.22e-7 |
SMART |
AAA
|
252 |
399 |
3.65e-19 |
SMART |
AAA
|
535 |
671 |
2.2e-13 |
SMART |
low complexity region
|
674 |
683 |
N/A |
INTRINSIC |
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107009
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133774
|
SMART Domains |
Protein: ENSMUSP00000133591 Gene: ENSMUSG00000034187
Domain | Start | End | E-Value | Type |
Pfam:CDC48_N
|
1 |
51 |
1.5e-10 |
PFAM |
CDC48_2
|
76 |
148 |
6.22e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140394
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145126
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149642
AA Change: E23K
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133603 Gene: ENSMUSG00000034187 AA Change: E23K
Domain | Start | End | E-Value | Type |
CDC48_N
|
2 |
76 |
6.51e-10 |
SMART |
|
Meta Mutation Damage Score |
0.0893 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
C |
T |
19: 31,898,294 (GRCm39) |
T226I |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,369,704 (GRCm39) |
N102D |
probably damaging |
Het |
Cd34 |
T |
A |
1: 194,621,334 (GRCm39) |
C21S |
probably damaging |
Het |
Cdh18 |
C |
T |
15: 23,367,094 (GRCm39) |
R267W |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,411,490 (GRCm39) |
N966K |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,265,855 (GRCm39) |
V44A |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,323,083 (GRCm39) |
N2828I |
probably damaging |
Het |
Dnah10 |
G |
T |
5: 124,839,929 (GRCm39) |
|
probably null |
Het |
Fshr |
A |
T |
17: 89,508,024 (GRCm39) |
V6D |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,130,602 (GRCm39) |
D1398G |
probably damaging |
Het |
Gpi1 |
G |
A |
7: 33,905,254 (GRCm39) |
A390V |
probably damaging |
Het |
Gypa |
G |
T |
8: 81,233,397 (GRCm39) |
|
probably null |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Ifna13 |
T |
A |
4: 88,562,366 (GRCm39) |
Q86L |
probably damaging |
Het |
Itgae |
T |
A |
11: 73,012,763 (GRCm39) |
C698* |
probably null |
Het |
Ivns1abp |
T |
C |
1: 151,239,061 (GRCm39) |
V625A |
probably benign |
Het |
Kcnh2 |
A |
G |
5: 24,531,345 (GRCm39) |
|
probably null |
Het |
Kcnj6 |
G |
A |
16: 94,563,538 (GRCm39) |
T320M |
probably damaging |
Het |
Mblac2 |
T |
C |
13: 81,898,368 (GRCm39) |
I248T |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,371,841 (GRCm39) |
Y2647F |
possibly damaging |
Het |
Or4k15 |
T |
C |
14: 50,364,211 (GRCm39) |
M59T |
probably damaging |
Het |
Or6c217 |
G |
T |
10: 129,738,173 (GRCm39) |
N135K |
possibly damaging |
Het |
Pard3b |
T |
A |
1: 62,626,897 (GRCm39) |
V1059E |
probably damaging |
Het |
Pkd1l3 |
A |
C |
8: 110,377,334 (GRCm39) |
I1585L |
probably benign |
Het |
Pramel31 |
A |
T |
4: 144,089,473 (GRCm39) |
I264F |
possibly damaging |
Het |
Prrc2b |
A |
T |
2: 32,109,741 (GRCm39) |
S1791C |
probably damaging |
Het |
Rbmxl2 |
C |
A |
7: 106,809,538 (GRCm39) |
S274R |
probably damaging |
Het |
Serpini2 |
T |
C |
3: 75,165,475 (GRCm39) |
E168G |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sis |
A |
G |
3: 72,819,237 (GRCm39) |
S1440P |
probably benign |
Het |
Snrnp40 |
A |
G |
4: 130,278,344 (GRCm39) |
H283R |
probably damaging |
Het |
Tcaf2 |
G |
T |
6: 42,607,298 (GRCm39) |
Q219K |
possibly damaging |
Het |
Tenm3 |
C |
T |
8: 48,740,988 (GRCm39) |
R803H |
probably damaging |
Het |
Ugt2b5 |
T |
C |
5: 87,287,465 (GRCm39) |
D234G |
probably damaging |
Het |
Unc13d |
A |
G |
11: 115,959,514 (GRCm39) |
F653S |
probably damaging |
Het |
Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,656,753 (GRCm39) |
S151P |
possibly damaging |
Het |
Vmn2r50 |
C |
A |
7: 9,787,026 (GRCm39) |
W27L |
probably benign |
Het |
Zan |
T |
C |
5: 137,436,836 (GRCm39) |
S2006G |
unknown |
Het |
|
Other mutations in Nsf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01161:Nsf
|
APN |
11 |
103,752,711 (GRCm39) |
splice site |
probably benign |
|
IGL01377:Nsf
|
APN |
11 |
103,763,473 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01994:Nsf
|
APN |
11 |
103,819,608 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02141:Nsf
|
APN |
11 |
103,719,351 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02663:Nsf
|
APN |
11 |
103,821,641 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02871:Nsf
|
APN |
11 |
103,752,882 (GRCm39) |
splice site |
probably benign |
|
uhaul
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0180:Nsf
|
UTSW |
11 |
103,821,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R0880:Nsf
|
UTSW |
11 |
103,804,198 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1146:Nsf
|
UTSW |
11 |
103,719,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R1146:Nsf
|
UTSW |
11 |
103,719,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Nsf
|
UTSW |
11 |
103,816,952 (GRCm39) |
unclassified |
probably benign |
|
R1873:Nsf
|
UTSW |
11 |
103,749,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Nsf
|
UTSW |
11 |
103,773,702 (GRCm39) |
nonsense |
probably null |
|
R2163:Nsf
|
UTSW |
11 |
103,754,159 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2193:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2194:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2287:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2289:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2343:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2345:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2346:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2347:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2350:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2405:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2406:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2407:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2408:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2409:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2411:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2924:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2925:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2987:Nsf
|
UTSW |
11 |
103,749,869 (GRCm39) |
splice site |
probably null |
|
R3177:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3277:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3741:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3742:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3845:Nsf
|
UTSW |
11 |
103,821,578 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4278:Nsf
|
UTSW |
11 |
103,821,632 (GRCm39) |
missense |
probably damaging |
0.96 |
R4717:Nsf
|
UTSW |
11 |
103,714,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Nsf
|
UTSW |
11 |
103,763,419 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4915:Nsf
|
UTSW |
11 |
103,801,185 (GRCm39) |
unclassified |
probably benign |
|
R4918:Nsf
|
UTSW |
11 |
103,801,185 (GRCm39) |
unclassified |
probably benign |
|
R5090:Nsf
|
UTSW |
11 |
103,801,404 (GRCm39) |
missense |
probably benign |
0.00 |
R5126:Nsf
|
UTSW |
11 |
103,773,618 (GRCm39) |
nonsense |
probably null |
|
R5411:Nsf
|
UTSW |
11 |
103,773,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R5560:Nsf
|
UTSW |
11 |
103,754,081 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6344:Nsf
|
UTSW |
11 |
103,752,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R6596:Nsf
|
UTSW |
11 |
103,801,283 (GRCm39) |
missense |
probably damaging |
0.98 |
R7155:Nsf
|
UTSW |
11 |
103,719,356 (GRCm39) |
nonsense |
probably null |
|
R7272:Nsf
|
UTSW |
11 |
103,718,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R7769:Nsf
|
UTSW |
11 |
103,819,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8323:Nsf
|
UTSW |
11 |
103,819,665 (GRCm39) |
missense |
probably benign |
0.05 |
R8487:Nsf
|
UTSW |
11 |
103,819,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R8856:Nsf
|
UTSW |
11 |
103,821,568 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9253:Nsf
|
UTSW |
11 |
103,804,142 (GRCm39) |
missense |
probably null |
1.00 |
R9476:Nsf
|
UTSW |
11 |
103,763,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Nsf
|
UTSW |
11 |
103,754,074 (GRCm39) |
missense |
probably benign |
0.19 |
R9510:Nsf
|
UTSW |
11 |
103,763,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R9520:Nsf
|
UTSW |
11 |
103,804,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R9546:Nsf
|
UTSW |
11 |
103,801,275 (GRCm39) |
nonsense |
probably null |
|
R9632:Nsf
|
UTSW |
11 |
103,714,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9779:Nsf
|
UTSW |
11 |
103,719,352 (GRCm39) |
missense |
probably damaging |
0.99 |
X0066:Nsf
|
UTSW |
11 |
103,714,566 (GRCm39) |
missense |
probably benign |
|
Z1176:Nsf
|
UTSW |
11 |
103,801,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAAGCAAGGTGACTACCAACC -3'
(R):5'- ATGCAGTTGTGTGGTAAGGAAGG -3'
Sequencing Primer
(F):5'- TGTGATACCTATACCCAGTG -3'
(R):5'- AGGGTGCTTTCTTCTAGTGC -3'
|
Posted On |
2014-11-12 |