Incidental Mutation 'R0180:Nsf'
| ID |
23841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsf
|
| Ensembl Gene |
ENSMUSG00000034187 |
| Gene Name |
N-ethylmaleimide sensitive fusion protein |
| Synonyms |
N-ethylmaleimide sensitive factor, SKD2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0180 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
103712608-103844882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103821606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 13
(L13F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103075]
[ENSMUST00000133774]
[ENSMUST00000149642]
|
| AlphaFold |
P46460 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103075
AA Change: L16F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099364
Gene: ENSMUSG00000034187
AA Change: L16F
| 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 |
probably damaging
Transcript: ENSMUST00000149642
AA Change: L13F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133603
Gene: ENSMUSG00000034187
AA Change: L13F
| Domain | Start | End | E-Value | Type |
|---|
|
CDC48_N
|
2 |
76 |
6.51e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 89.5%
|
| Validation Efficiency |
77% (53/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,630,003 (GRCm39) |
N24Y |
probably damaging |
Het |
| 2810408A11Rik |
A |
T |
11: 69,789,702 (GRCm39) |
M311K |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,737,982 (GRCm39) |
I119T |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,198 (GRCm39) |
M336V |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,634,082 (GRCm39) |
F374I |
probably benign |
Het |
| Apob |
C |
T |
12: 8,058,285 (GRCm39) |
Q2256* |
probably null |
Het |
| Arg1 |
T |
C |
10: 24,792,728 (GRCm39) |
I169V |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
| B3gnt5 |
T |
A |
16: 19,587,850 (GRCm39) |
I23K |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,889,856 (GRCm39) |
|
probably null |
Het |
| Celf3 |
T |
A |
3: 94,392,647 (GRCm39) |
F115L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,968,559 (GRCm39) |
H984Q |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,932,351 (GRCm39) |
V493A |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,450,620 (GRCm39) |
G376S |
probably damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,890 (GRCm39) |
H356R |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cracr2a |
T |
C |
6: 127,581,037 (GRCm39) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,310,559 (GRCm39) |
H62R |
probably damaging |
Het |
| Cyp4f40 |
G |
T |
17: 32,878,641 (GRCm39) |
W61L |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 66,038,116 (GRCm39) |
H140P |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,128,944 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
T |
G |
2: 32,218,005 (GRCm39) |
I464L |
probably damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,819,916 (GRCm39) |
T1409I |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,713 (GRCm39) |
M297V |
probably benign |
Het |
| Emcn |
A |
T |
3: 137,124,755 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
A |
T |
9: 101,804,703 (GRCm39) |
M905K |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,743,922 (GRCm39) |
Y276C |
probably benign |
Het |
| Fermt3 |
C |
A |
19: 6,979,711 (GRCm39) |
S474I |
possibly damaging |
Het |
| Frg1 |
T |
A |
8: 41,852,105 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
T |
C |
19: 46,274,161 (GRCm39) |
S1732P |
probably benign |
Het |
| Gbp8 |
A |
C |
5: 105,179,142 (GRCm39) |
L119R |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,078,217 (GRCm39) |
A927T |
possibly damaging |
Het |
| Gm8836 |
T |
A |
6: 70,237,389 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
T |
4: 135,281,841 (GRCm39) |
V344I |
probably benign |
Het |
| Hhipl1 |
T |
A |
12: 108,294,329 (GRCm39) |
L745H |
probably damaging |
Het |
| Ido1 |
T |
C |
8: 25,083,156 (GRCm39) |
I90V |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,403,407 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
G |
4: 149,298,116 (GRCm39) |
S1029R |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,738,148 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
T |
C |
5: 134,698,115 (GRCm39) |
N215D |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,089,368 (GRCm39) |
K144E |
probably benign |
Het |
| Mfsd6l |
A |
T |
11: 68,447,371 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Mroh1 |
T |
A |
15: 76,312,450 (GRCm39) |
S546T |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,955,804 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
G |
A |
9: 44,166,756 (GRCm39) |
H776Y |
possibly damaging |
Het |
| Nptxr |
T |
C |
15: 79,678,604 (GRCm39) |
M228V |
probably benign |
Het |
| Nyap1 |
T |
C |
5: 137,736,283 (GRCm39) |
E68G |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,703 (GRCm39) |
R307S |
possibly damaging |
Het |
| Or51r1 |
A |
G |
7: 102,228,239 (GRCm39) |
Y179C |
probably damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,535,307 (GRCm39) |
N434D |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,127 (GRCm39) |
D313G |
probably damaging |
Het |
| Pkdcc |
G |
A |
17: 83,529,299 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
C |
1: 135,814,538 (GRCm39) |
K261R |
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,574,250 (GRCm39) |
|
probably null |
Het |
| Polr3b |
A |
G |
10: 84,458,379 (GRCm39) |
T17A |
probably benign |
Het |
| Ppt2 |
A |
T |
17: 34,845,477 (GRCm39) |
M98K |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,618,379 (GRCm39) |
D142G |
probably benign |
Het |
| Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
| Rhbdf1 |
A |
T |
11: 32,160,042 (GRCm39) |
V153D |
possibly damaging |
Het |
| Slc6a3 |
C |
T |
13: 73,710,455 (GRCm39) |
T355M |
probably damaging |
Het |
| Snrnp35 |
A |
T |
5: 124,628,883 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,311,189 (GRCm39) |
I37N |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,278,109 (GRCm39) |
P1133Q |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,124 (GRCm39) |
I413V |
probably benign |
Het |
| Trappc11 |
G |
T |
8: 47,981,009 (GRCm39) |
T144K |
possibly damaging |
Het |
| Triml2 |
A |
T |
8: 43,643,346 (GRCm39) |
I223L |
probably benign |
Het |
| Ube2g2 |
T |
A |
10: 77,466,573 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,047 (GRCm39) |
Y348H |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,124,372 (GRCm39) |
F840L |
probably damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,549,349 (GRCm39) |
I771V |
probably benign |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
| Zfp106 |
T |
G |
2: 120,364,356 (GRCm39) |
T684P |
probably damaging |
Het |
| Zfp217 |
A |
T |
2: 169,962,057 (GRCm39) |
L90Q |
probably damaging |
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 |
|
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 |
|
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'- CCCCATTTTCCAGCTTGGCAAGAG -3'
(R):5'- CTGGACTGGCCTCAAGGACTTTAAC -3'
Sequencing Primer
(F):5'- TTCCTAAGATGATTCTTTGGAATCG -3'
(R):5'- TGAGAGATAGGCAGCTTCCC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation