Incidental Mutation 'R6344:Nsf'
ID |
514067 |
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 |
044498-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6344 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103712608-103844882 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103752730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 539
(V539D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103075]
|
AlphaFold |
P46460 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103075
AA Change: V539D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099364 Gene: ENSMUSG00000034187 AA Change: V539D
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: ENSMUST00000127813
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150516
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
C |
T |
2: 25,327,706 (GRCm39) |
P707L |
probably damaging |
Het |
Bbip1 |
A |
G |
19: 53,919,912 (GRCm39) |
V23A |
probably benign |
Het |
Bdnf |
A |
T |
2: 109,554,022 (GRCm39) |
Y132F |
probably benign |
Het |
C4bp |
T |
C |
1: 130,583,752 (GRCm39) |
D72G |
probably benign |
Het |
Cdcp1 |
T |
A |
9: 123,011,447 (GRCm39) |
K343N |
possibly damaging |
Het |
Cep112 |
A |
T |
11: 108,410,000 (GRCm39) |
Y472F |
probably damaging |
Het |
Cops2 |
A |
T |
2: 125,700,899 (GRCm39) |
|
probably benign |
Het |
Cyp27a1 |
T |
C |
1: 74,776,008 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,436,349 (GRCm39) |
I3998V |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dnhd1 |
A |
G |
7: 105,343,817 (GRCm39) |
I1720M |
probably benign |
Het |
Fkbpl |
A |
G |
17: 34,864,544 (GRCm39) |
K104R |
probably damaging |
Het |
Helq |
G |
T |
5: 100,914,594 (GRCm39) |
A966E |
probably benign |
Het |
Iba57 |
G |
A |
11: 59,049,119 (GRCm39) |
P350L |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 87,989,401 (GRCm39) |
|
probably null |
Het |
Kcnj9 |
A |
G |
1: 172,153,713 (GRCm39) |
V137A |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,672,777 (GRCm39) |
|
probably null |
Het |
Kmt2a |
A |
T |
9: 44,733,156 (GRCm39) |
|
probably benign |
Het |
Lilra5 |
T |
A |
7: 4,241,785 (GRCm39) |
F195I |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,414,033 (GRCm39) |
I349T |
probably benign |
Het |
Mlst8 |
A |
G |
17: 24,696,300 (GRCm39) |
L143P |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,248,985 (GRCm39) |
F174L |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,416,708 (GRCm39) |
L3218Q |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,466,776 (GRCm39) |
S275G |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,067,791 (GRCm39) |
V615D |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,780,558 (GRCm39) |
L485P |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,378,534 (GRCm39) |
Y1646H |
probably damaging |
Het |
Nutm1 |
A |
T |
2: 112,079,247 (GRCm39) |
N889K |
possibly damaging |
Het |
Or2n1b |
C |
T |
17: 38,459,611 (GRCm39) |
A44V |
probably benign |
Het |
Or55b3 |
A |
G |
7: 102,126,738 (GRCm39) |
L113P |
probably damaging |
Het |
Pcdhga2 |
T |
A |
18: 37,803,815 (GRCm39) |
V553E |
probably benign |
Het |
Pkmyt1 |
T |
C |
17: 23,951,730 (GRCm39) |
S95P |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,319,708 (GRCm39) |
|
probably null |
Het |
Saxo2 |
T |
A |
7: 82,284,073 (GRCm39) |
I262F |
probably damaging |
Het |
Sco1 |
C |
T |
11: 66,946,571 (GRCm39) |
R115W |
probably damaging |
Het |
Slc27a3 |
G |
T |
3: 90,294,961 (GRCm39) |
Y330* |
probably null |
Het |
Slc6a4 |
C |
T |
11: 76,909,080 (GRCm39) |
T364I |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,377,023 (GRCm39) |
I388V |
probably benign |
Het |
Smc6 |
C |
A |
12: 11,347,107 (GRCm39) |
|
probably benign |
Het |
Snx25 |
C |
T |
8: 46,488,675 (GRCm39) |
W747* |
probably null |
Het |
Stard9 |
T |
A |
2: 120,534,801 (GRCm39) |
M3686K |
probably benign |
Het |
Syne1 |
T |
C |
10: 4,972,212 (GRCm39) |
D8732G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,574,105 (GRCm39) |
S36P |
possibly damaging |
Het |
Trpv6 |
T |
C |
6: 41,602,356 (GRCm39) |
|
probably null |
Het |
Tspear |
T |
C |
10: 77,710,847 (GRCm39) |
F490L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,552,196 (GRCm39) |
I31147T |
probably damaging |
Het |
Ugt3a1 |
A |
C |
15: 9,306,317 (GRCm39) |
E155D |
probably damaging |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Washc2 |
G |
T |
6: 116,235,719 (GRCm39) |
Q977H |
probably benign |
Het |
Yars2 |
T |
A |
16: 16,120,899 (GRCm39) |
W18R |
probably benign |
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 |
R2435: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 |
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'- AACCTGGTTGCTGTCACTTG -3'
(R):5'- TTGACCAAACTGCTTTAAAGTGTCC -3'
Sequencing Primer
(F):5'- ATCTGTCCTACTATAGATGCGTAGGC -3'
(R):5'- AAAGTGTCCTTTACCTCAATAGGC -3'
|
Posted On |
2018-04-27 |