Incidental Mutation 'R3276:Zswim9'
ID |
475824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim9
|
Ensembl Gene |
ENSMUSG00000070814 |
Gene Name |
zinc finger SWIM-type containing 9 |
Synonyms |
6330408A02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R3276 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12992894-13012647 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13011196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 51
(T51A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098814]
[ENSMUST00000108532]
[ENSMUST00000119139]
[ENSMUST00000119558]
[ENSMUST00000123025]
[ENSMUST00000146998]
[ENSMUST00000165964]
[ENSMUST00000177588]
[ENSMUST00000144470]
[ENSMUST00000185145]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098814
|
SMART Domains |
Protein: ENSMUSP00000096411 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
coiled coil region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:DNA_ligase_A_N
|
301 |
479 |
8.6e-50 |
PFAM |
Pfam:DNA_ligase_A_M
|
556 |
760 |
3.4e-67 |
PFAM |
Pfam:DNA_ligase_A_C
|
785 |
896 |
9.4e-28 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108532
AA Change: T51A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104172 Gene: ENSMUSG00000070814 AA Change: T51A
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
AA Change: T51A
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000112652 Gene: ENSMUSG00000070814 AA Change: T51A
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
AA Change: T51A
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123025
|
SMART Domains |
Protein: ENSMUSP00000114872 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
low complexity region
|
159 |
177 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123846
|
SMART Domains |
Protein: ENSMUSP00000119788 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
coiled coil region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:DNA_ligase_A_N
|
301 |
479 |
4e-47 |
PFAM |
Pfam:DNA_ligase_A_M
|
556 |
687 |
1e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135898
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137574
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156525
|
SMART Domains |
Protein: ENSMUSP00000118055 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
coiled coil region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:DNA_ligase_A_N
|
301 |
479 |
4e-47 |
PFAM |
Pfam:DNA_ligase_A_M
|
556 |
687 |
1e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148471
|
SMART Domains |
Protein: ENSMUSP00000114153 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
coiled coil region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:DNA_ligase_A_N
|
301 |
479 |
4e-47 |
PFAM |
Pfam:DNA_ligase_A_M
|
556 |
687 |
1e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211707
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147735
|
SMART Domains |
Protein: ENSMUSP00000115286 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
coiled coil region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:DNA_ligase_A_N
|
301 |
479 |
4e-47 |
PFAM |
Pfam:DNA_ligase_A_M
|
556 |
687 |
1e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146998
|
SMART Domains |
Protein: ENSMUSP00000121102 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
low complexity region
|
160 |
178 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165964
|
SMART Domains |
Protein: ENSMUSP00000126525 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
coiled coil region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:DNA_ligase_A_N
|
302 |
478 |
1.7e-40 |
PFAM |
Pfam:DNA_ligase_A_M
|
556 |
760 |
1.1e-69 |
PFAM |
Pfam:DNA_ligase_A_C
|
785 |
896 |
1.6e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177588
|
SMART Domains |
Protein: ENSMUSP00000136972 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
coiled coil region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:DNA_ligase_A_N
|
301 |
479 |
8.6e-50 |
PFAM |
Pfam:DNA_ligase_A_M
|
556 |
760 |
3.4e-67 |
PFAM |
Pfam:DNA_ligase_A_C
|
785 |
896 |
9.4e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144470
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185145
|
SMART Domains |
Protein: ENSMUSP00000138907 Gene: ENSMUSG00000056394
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
coiled coil region
|
149 |
173 |
N/A |
INTRINSIC |
PDB:1X9N|A
|
247 |
313 |
3e-24 |
PDB |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
C |
T |
8: 87,233,495 (GRCm39) |
R1269H |
probably damaging |
Het |
Ace |
A |
G |
11: 105,867,528 (GRCm39) |
E164G |
probably null |
Het |
Als2 |
A |
T |
1: 59,209,167 (GRCm39) |
V1464E |
possibly damaging |
Het |
Atox1 |
A |
G |
11: 55,341,379 (GRCm39) |
L52P |
possibly damaging |
Het |
Btnl10 |
A |
G |
11: 58,813,216 (GRCm39) |
K282E |
probably benign |
Het |
Cdkn3 |
T |
C |
14: 47,008,934 (GRCm39) |
|
probably benign |
Het |
Col16a1 |
A |
G |
4: 129,951,792 (GRCm39) |
K72E |
probably damaging |
Het |
Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,429 (GRCm39) |
H36R |
probably benign |
Het |
Cyp4b1 |
T |
C |
4: 115,483,047 (GRCm39) |
N415D |
possibly damaging |
Het |
Dennd4a |
G |
T |
9: 64,796,275 (GRCm39) |
R767L |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,418,436 (GRCm39) |
F25L |
probably benign |
Het |
Dhrs3 |
A |
G |
4: 144,650,510 (GRCm39) |
T219A |
probably benign |
Het |
Dhx58 |
A |
G |
11: 100,587,805 (GRCm39) |
F584S |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,689,801 (GRCm39) |
T715A |
probably benign |
Het |
Eogt |
T |
A |
6: 97,108,355 (GRCm39) |
I229F |
probably benign |
Het |
Ern2 |
T |
C |
7: 121,780,187 (GRCm39) |
T164A |
possibly damaging |
Het |
Fam133b |
A |
T |
5: 3,608,522 (GRCm39) |
N84I |
probably damaging |
Het |
Fbxl21 |
T |
A |
13: 56,684,935 (GRCm39) |
Y346* |
probably null |
Het |
Fcgbp |
C |
A |
7: 27,791,086 (GRCm39) |
H782Q |
probably damaging |
Het |
Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
Golga3 |
T |
C |
5: 110,349,864 (GRCm39) |
|
probably benign |
Het |
Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,537,377 (GRCm39) |
N1119S |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,682,063 (GRCm39) |
I207V |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lhfpl5 |
T |
C |
17: 28,798,920 (GRCm39) |
I143T |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,955,269 (GRCm39) |
K431E |
possibly damaging |
Het |
Mag |
C |
T |
7: 30,601,073 (GRCm39) |
|
probably null |
Het |
Maml3 |
A |
T |
3: 51,764,351 (GRCm39) |
N204K |
possibly damaging |
Het |
Mmut |
A |
G |
17: 41,269,763 (GRCm39) |
|
probably null |
Het |
Mrpl19 |
T |
C |
6: 81,941,047 (GRCm39) |
S115G |
probably damaging |
Het |
Mthfd1l |
G |
C |
10: 4,098,025 (GRCm39) |
G954A |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,783,001 (GRCm39) |
I172V |
probably benign |
Het |
Naca |
T |
C |
10: 127,876,530 (GRCm39) |
|
probably benign |
Het |
Nfatc2 |
T |
C |
2: 168,348,914 (GRCm39) |
N638D |
possibly damaging |
Het |
Nsun6 |
A |
G |
2: 15,014,215 (GRCm39) |
|
probably benign |
Het |
Or52r1c |
C |
A |
7: 102,734,957 (GRCm39) |
D72E |
probably damaging |
Het |
Or8b49 |
T |
A |
9: 38,505,939 (GRCm39) |
C141S |
probably damaging |
Het |
Or9s27 |
A |
G |
1: 92,516,535 (GRCm39) |
N161S |
probably benign |
Het |
Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
Prcd |
A |
G |
11: 116,550,637 (GRCm39) |
E103G |
possibly damaging |
Het |
Prkx |
A |
T |
X: 76,814,881 (GRCm39) |
F260I |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,631,142 (GRCm39) |
|
probably null |
Het |
Ranbp1 |
T |
C |
16: 18,065,293 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,319,590 (GRCm39) |
M1003K |
probably benign |
Het |
Scap |
A |
T |
9: 110,203,093 (GRCm39) |
M256L |
probably benign |
Het |
Sema4c |
C |
T |
1: 36,588,960 (GRCm39) |
R722H |
possibly damaging |
Het |
Septin4 |
T |
C |
11: 87,458,070 (GRCm39) |
V148A |
possibly damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Spata7 |
A |
G |
12: 98,603,857 (GRCm39) |
N75D |
possibly damaging |
Het |
Tmem120b |
T |
A |
5: 123,252,167 (GRCm39) |
I146N |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,547,318 (GRCm39) |
F99L |
possibly damaging |
Het |
Ube3a |
T |
A |
7: 58,926,267 (GRCm39) |
C348* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,149,166 (GRCm39) |
D1777E |
probably benign |
Het |
Unc79 |
C |
A |
12: 103,079,476 (GRCm39) |
D1880E |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
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 |
R0680:Zswim9
|
UTSW |
7 |
12,994,248 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
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 |
|
Posted On |
2017-05-11 |