Incidental Mutation 'R6344:Nsf'
| ID |
514067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsf
|
| Ensembl Gene |
ENSMUSG00000034187 |
| Gene Name |
N-ethylmaleimide sensitive fusion protein |
| Synonyms |
SKD2, N-ethylmaleimide sensitive factor |
| 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 |
103821782-103954056 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103861904 bp (GRCm38)
|
| 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: 25,437,694 (GRCm38) |
P707L |
probably damaging |
Het |
| Bbip1 |
A |
G |
19: 53,931,481 (GRCm38) |
V23A |
probably benign |
Het |
| Bdnf |
A |
T |
2: 109,723,677 (GRCm38) |
Y132F |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,656,015 (GRCm38) |
D72G |
probably benign |
Het |
| Cdcp1 |
T |
A |
9: 123,182,382 (GRCm38) |
K343N |
possibly damaging |
Het |
| Cep112 |
A |
T |
11: 108,519,174 (GRCm38) |
Y472F |
probably damaging |
Het |
| Cops2 |
A |
T |
2: 125,858,979 (GRCm38) |
|
probably benign |
Het |
| Cyp27a1 |
T |
C |
1: 74,736,849 (GRCm38) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,397,190 (GRCm38) |
I3998V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Homo |
| Dnhd1 |
A |
G |
7: 105,694,610 (GRCm38) |
I1720M |
probably benign |
Het |
| Fkbpl |
A |
G |
17: 34,645,570 (GRCm38) |
K104R |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,766,728 (GRCm38) |
A966E |
probably benign |
Het |
| Iba57 |
G |
A |
11: 59,158,293 (GRCm38) |
P350L |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,082,094 (GRCm38) |
|
probably null |
Het |
| Kcnj9 |
A |
G |
1: 172,326,146 (GRCm38) |
V137A |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,781,951 (GRCm38) |
|
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,821,859 (GRCm38) |
|
probably benign |
Het |
| Lilra5 |
T |
A |
7: 4,238,786 (GRCm38) |
F195I |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,537,937 (GRCm38) |
I349T |
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,477,326 (GRCm38) |
L143P |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,244,174 (GRCm38) |
F174L |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,862,971 (GRCm38) |
L3218Q |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,328,715 (GRCm38) |
S275G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,160,509 (GRCm38) |
V615D |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,327,914 (GRCm38) |
L485P |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,450,796 (GRCm38) |
Y1646H |
probably damaging |
Het |
| Nutm1 |
A |
T |
2: 112,248,902 (GRCm38) |
N889K |
possibly damaging |
Het |
| Olfr133 |
C |
T |
17: 38,148,720 (GRCm38) |
A44V |
probably benign |
Het |
| Olfr543 |
A |
G |
7: 102,477,531 (GRCm38) |
L113P |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,670,762 (GRCm38) |
V553E |
probably benign |
Het |
| Pkmyt1 |
T |
C |
17: 23,732,756 (GRCm38) |
S95P |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,483,886 (GRCm38) |
|
probably null |
Het |
| Saxo2 |
T |
A |
7: 82,634,865 (GRCm38) |
I262F |
probably damaging |
Het |
| Sco1 |
C |
T |
11: 67,055,745 (GRCm38) |
R115W |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,387,654 (GRCm38) |
Y330* |
probably null |
Het |
| Slc6a4 |
C |
T |
11: 77,018,254 (GRCm38) |
T364I |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,219,681 (GRCm38) |
I388V |
probably benign |
Het |
| Smc6 |
C |
A |
12: 11,297,106 (GRCm38) |
|
probably benign |
Het |
| Snx25 |
C |
T |
8: 46,035,638 (GRCm38) |
W747* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,704,320 (GRCm38) |
M3686K |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,022,212 (GRCm38) |
D8732G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,597,171 (GRCm38) |
S36P |
possibly damaging |
Het |
| Trpv6 |
T |
C |
6: 41,625,422 (GRCm38) |
|
probably null |
Het |
| Tspear |
T |
C |
10: 77,875,013 (GRCm38) |
F490L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,721,852 (GRCm38) |
I31147T |
probably damaging |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,231 (GRCm38) |
E155D |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,031,125 (GRCm38) |
E1190D |
probably damaging |
Het |
| Washc2 |
G |
T |
6: 116,258,758 (GRCm38) |
Q977H |
probably benign |
Het |
| Yars2 |
T |
A |
16: 16,303,035 (GRCm38) |
W18R |
probably benign |
Het |
|
| Other mutations in Nsf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Nsf
|
APN |
11 |
103,861,885 (GRCm38) |
splice site |
probably benign |
|
|
IGL01377:Nsf
|
APN |
11 |
103,872,647 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01994:Nsf
|
APN |
11 |
103,928,782 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02141:Nsf
|
APN |
11 |
103,828,525 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02663:Nsf
|
APN |
11 |
103,930,815 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02871:Nsf
|
APN |
11 |
103,862,056 (GRCm38) |
splice site |
probably benign |
|
|
uhaul
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R0180:Nsf
|
UTSW |
11 |
103,930,780 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0880:Nsf
|
UTSW |
11 |
103,913,372 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1146:Nsf
|
UTSW |
11 |
103,828,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1146:Nsf
|
UTSW |
11 |
103,828,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1203:Nsf
|
UTSW |
11 |
103,926,126 (GRCm38) |
unclassified |
probably benign |
|
|
R1873:Nsf
|
UTSW |
11 |
103,859,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1951:Nsf
|
UTSW |
11 |
103,882,876 (GRCm38) |
nonsense |
probably null |
|
|
R2163:Nsf
|
UTSW |
11 |
103,863,333 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2193:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2194:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2287:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2289:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2343:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2345:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2346:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2347:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2350:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2405:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2406:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2407:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2408:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2409:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2411:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2435:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2924:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2925:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2987:Nsf
|
UTSW |
11 |
103,859,043 (GRCm38) |
splice site |
probably null |
|
|
R3177:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R3277:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R3741:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R3742:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R3845:Nsf
|
UTSW |
11 |
103,930,752 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R4278:Nsf
|
UTSW |
11 |
103,930,806 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4717:Nsf
|
UTSW |
11 |
103,823,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4775:Nsf
|
UTSW |
11 |
103,872,593 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4915:Nsf
|
UTSW |
11 |
103,910,359 (GRCm38) |
unclassified |
probably benign |
|
|
R4918:Nsf
|
UTSW |
11 |
103,910,359 (GRCm38) |
unclassified |
probably benign |
|
|
R5090:Nsf
|
UTSW |
11 |
103,910,578 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5126:Nsf
|
UTSW |
11 |
103,882,792 (GRCm38) |
nonsense |
probably null |
|
|
R5411:Nsf
|
UTSW |
11 |
103,882,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5560:Nsf
|
UTSW |
11 |
103,863,255 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6596:Nsf
|
UTSW |
11 |
103,910,457 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7155:Nsf
|
UTSW |
11 |
103,828,530 (GRCm38) |
nonsense |
probably null |
|
|
R7272:Nsf
|
UTSW |
11 |
103,827,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7769:Nsf
|
UTSW |
11 |
103,928,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8323:Nsf
|
UTSW |
11 |
103,928,839 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8487:Nsf
|
UTSW |
11 |
103,928,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8856:Nsf
|
UTSW |
11 |
103,930,742 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9253:Nsf
|
UTSW |
11 |
103,913,316 (GRCm38) |
missense |
probably null |
1.00 |
|
R9476:Nsf
|
UTSW |
11 |
103,873,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9509:Nsf
|
UTSW |
11 |
103,863,248 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9510:Nsf
|
UTSW |
11 |
103,873,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9520:Nsf
|
UTSW |
11 |
103,913,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9546:Nsf
|
UTSW |
11 |
103,910,449 (GRCm38) |
nonsense |
probably null |
|
|
R9632:Nsf
|
UTSW |
11 |
103,823,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9779:Nsf
|
UTSW |
11 |
103,828,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0066:Nsf
|
UTSW |
11 |
103,823,740 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Nsf
|
UTSW |
11 |
103,910,554 (GRCm38) |
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 |
Incidental Mutation