Incidental Mutation 'R0680:Zswim9'
ID |
61749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim9
|
Ensembl Gene |
ENSMUSG00000070814 |
Gene Name |
zinc finger SWIM-type containing 9 |
Synonyms |
6330408A02Rik |
MMRRC Submission |
038865-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R0680 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12992894-13012647 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 12994248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 636
(V636G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108532]
[ENSMUST00000119139]
[ENSMUST00000119558]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108532
AA Change: V636G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104172 Gene: ENSMUSG00000070814 AA Change: V636G
Domain | Start | End | E-Value | Type |
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119139
|
SMART Domains |
Protein: ENSMUSP00000112652 Gene: ENSMUSG00000070814
Domain | Start | End | E-Value | Type |
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119558
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca4a |
A |
T |
3: 144,675,128 (GRCm39) |
F167L |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,706,703 (GRCm39) |
M2137V |
unknown |
Het |
Dennd2a |
A |
T |
6: 39,459,996 (GRCm39) |
L703Q |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,821,703 (GRCm39) |
I5812N |
possibly damaging |
Het |
Gen1 |
T |
A |
12: 11,291,870 (GRCm39) |
S640C |
probably benign |
Het |
Il9 |
T |
C |
13: 56,629,693 (GRCm39) |
T61A |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,425,530 (GRCm39) |
L700P |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,824,926 (GRCm39) |
V1514I |
probably benign |
Het |
Med1 |
A |
T |
11: 98,070,992 (GRCm39) |
|
probably null |
Het |
Or14a257 |
A |
T |
7: 86,138,545 (GRCm39) |
F71L |
probably benign |
Het |
Or4c11c |
A |
T |
2: 88,662,124 (GRCm39) |
Y221F |
probably benign |
Het |
Or52n2 |
A |
G |
7: 104,542,211 (GRCm39) |
I208T |
probably benign |
Het |
Or6c69b |
T |
A |
10: 129,626,687 (GRCm39) |
Y257F |
probably damaging |
Het |
Pcdhb18 |
G |
C |
18: 37,623,347 (GRCm39) |
A226P |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,720,360 (GRCm39) |
N338Y |
possibly damaging |
Het |
Rc3h2 |
A |
C |
2: 37,289,847 (GRCm39) |
I360R |
probably damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,501 (GRCm39) |
Y509H |
probably damaging |
Het |
Shisa7 |
T |
A |
7: 4,834,722 (GRCm39) |
D279V |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,043,967 (GRCm39) |
D1449G |
probably benign |
Het |
Slc6a3 |
T |
C |
13: 73,686,846 (GRCm39) |
L71P |
probably damaging |
Het |
Slc9a5 |
T |
A |
8: 106,082,539 (GRCm39) |
L268Q |
probably null |
Het |
St7 |
T |
C |
6: 17,942,732 (GRCm39) |
S563P |
probably damaging |
Het |
Stx1b |
A |
G |
7: 127,406,895 (GRCm39) |
V240A |
possibly damaging |
Het |
Sugt1 |
A |
G |
14: 79,847,751 (GRCm39) |
I200M |
possibly damaging |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Tut7 |
G |
A |
13: 59,948,413 (GRCm39) |
T636I |
possibly damaging |
Het |
Ube4a |
T |
A |
9: 44,859,358 (GRCm39) |
Q380L |
probably damaging |
Het |
Ugt1a2 |
A |
G |
1: 88,128,933 (GRCm39) |
Y192C |
probably damaging |
Het |
Ulbp3 |
T |
A |
10: 3,075,133 (GRCm39) |
|
noncoding transcript |
Het |
Unc93b1 |
G |
A |
19: 3,997,093 (GRCm39) |
V505I |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,965,884 (GRCm39) |
S576P |
possibly damaging |
Het |
Vcan |
A |
T |
13: 89,827,941 (GRCm39) |
H2208Q |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,357,497 (GRCm39) |
S1133C |
probably damaging |
Het |
Zfp148 |
A |
G |
16: 33,316,174 (GRCm39) |
D282G |
possibly damaging |
Het |
|
Other mutations in Zswim9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01926:Zswim9
|
APN |
7 |
12,994,248 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02063:Zswim9
|
APN |
7 |
12,994,608 (GRCm39) |
missense |
probably damaging |
0.98 |
R0568:Zswim9
|
UTSW |
7 |
12,994,952 (GRCm39) |
missense |
probably damaging |
0.99 |
R1438:Zswim9
|
UTSW |
7 |
13,011,144 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1600:Zswim9
|
UTSW |
7 |
13,003,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Zswim9
|
UTSW |
7 |
13,011,337 (GRCm39) |
missense |
probably benign |
0.04 |
R1745:Zswim9
|
UTSW |
7 |
13,003,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Zswim9
|
UTSW |
7 |
12,994,141 (GRCm39) |
nonsense |
probably null |
|
R2025:Zswim9
|
UTSW |
7 |
13,003,292 (GRCm39) |
missense |
probably damaging |
0.98 |
R3149:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3150:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3176:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3177:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3276:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3277:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3950:Zswim9
|
UTSW |
7 |
12,995,503 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4554:Zswim9
|
UTSW |
7 |
13,011,088 (GRCm39) |
missense |
probably benign |
0.33 |
R4866:Zswim9
|
UTSW |
7 |
12,995,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R4953:Zswim9
|
UTSW |
7 |
13,003,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Zswim9
|
UTSW |
7 |
12,993,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R5394:Zswim9
|
UTSW |
7 |
12,994,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R5408:Zswim9
|
UTSW |
7 |
12,994,753 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5654:Zswim9
|
UTSW |
7 |
12,995,094 (GRCm39) |
missense |
probably damaging |
0.99 |
R5810:Zswim9
|
UTSW |
7 |
12,994,662 (GRCm39) |
missense |
probably damaging |
0.98 |
R5859:Zswim9
|
UTSW |
7 |
12,995,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R6235:Zswim9
|
UTSW |
7 |
12,995,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R6239:Zswim9
|
UTSW |
7 |
12,995,257 (GRCm39) |
nonsense |
probably null |
|
R6249:Zswim9
|
UTSW |
7 |
12,994,903 (GRCm39) |
missense |
probably damaging |
0.98 |
R6394:Zswim9
|
UTSW |
7 |
12,994,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R7077:Zswim9
|
UTSW |
7 |
12,993,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R7133:Zswim9
|
UTSW |
7 |
12,993,664 (GRCm39) |
missense |
probably damaging |
0.98 |
R7178:Zswim9
|
UTSW |
7 |
12,993,924 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7595:Zswim9
|
UTSW |
7 |
12,994,998 (GRCm39) |
missense |
probably benign |
0.21 |
R8005:Zswim9
|
UTSW |
7 |
12,995,064 (GRCm39) |
missense |
probably damaging |
0.98 |
R8138:Zswim9
|
UTSW |
7 |
12,995,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R8282:Zswim9
|
UTSW |
7 |
12,995,536 (GRCm39) |
missense |
probably benign |
|
R8818:Zswim9
|
UTSW |
7 |
12,994,456 (GRCm39) |
missense |
probably benign |
0.19 |
R9241:Zswim9
|
UTSW |
7 |
13,003,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R9277:Zswim9
|
UTSW |
7 |
12,994,983 (GRCm39) |
missense |
probably damaging |
0.96 |
R9787:Zswim9
|
UTSW |
7 |
12,994,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCATGGTACACCATTCCCCATC -3'
(R):5'- CAAGAGTCTTGAAGGAAGGCCCTG -3'
Sequencing Primer
(F):5'- ATTCCCCATCCCTAGAAGCCTC -3'
(R):5'- CCTGGAGAGACGTACAGTTGC -3'
|
Posted On |
2013-07-30 |