Incidental Mutation 'R1438:Zswim9'
| ID |
160766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim9
|
| Ensembl Gene |
ENSMUSG00000070814 |
| Gene Name |
zinc finger SWIM-type containing 9 |
| Synonyms |
6330408A02Rik |
| MMRRC Submission |
039493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1438 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12992894-13012647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13011144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 68
(I68T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098814]
[ENSMUST00000108532]
[ENSMUST00000119139]
[ENSMUST00000119558]
[ENSMUST00000123025]
[ENSMUST00000144470]
[ENSMUST00000185145]
[ENSMUST00000177588]
[ENSMUST00000146998]
[ENSMUST00000165964]
|
| 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: I68T
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: I68T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119139
AA Change: I68T
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
AA Change: I68T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119558
AA Change: I68T
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| 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: ENSMUST00000211707
|
| 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: 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: ENSMUST00000137574
|
| 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: 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 |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0964 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
T |
5: 137,552,871 (GRCm39) |
I67F |
probably damaging |
Het |
| Adam24 |
A |
T |
8: 41,134,431 (GRCm39) |
N633I |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,344,585 (GRCm39) |
S123G |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,075,652 (GRCm39) |
F940L |
probably damaging |
Het |
| Ahrr |
A |
T |
13: 74,372,987 (GRCm39) |
Y26* |
probably null |
Het |
| Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
| Aox3 |
A |
T |
1: 58,192,337 (GRCm39) |
T536S |
probably benign |
Het |
| Boc |
A |
T |
16: 44,309,109 (GRCm39) |
|
probably null |
Het |
| Cchcr1 |
T |
C |
17: 35,841,457 (GRCm39) |
|
probably null |
Het |
| Cct2 |
A |
T |
10: 116,890,897 (GRCm39) |
|
probably benign |
Het |
| Cd84 |
A |
T |
1: 171,679,685 (GRCm39) |
Y121F |
probably damaging |
Het |
| Cecr2 |
T |
A |
6: 120,738,433 (GRCm39) |
C275* |
probably null |
Het |
| Chchd3 |
C |
A |
6: 32,985,503 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,007,971 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
T |
C |
9: 20,691,253 (GRCm39) |
K1131E |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,241,647 (GRCm39) |
S306T |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,339,069 (GRCm39) |
E322G |
possibly damaging |
Het |
| Dlg5 |
T |
A |
14: 24,204,673 (GRCm39) |
D941V |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,876,009 (GRCm39) |
N2559S |
probably benign |
Het |
| Dnajc3 |
A |
G |
14: 119,205,518 (GRCm39) |
T171A |
probably benign |
Het |
| Eftud2 |
G |
T |
11: 102,750,868 (GRCm39) |
F308L |
probably damaging |
Het |
| Elp6 |
T |
C |
9: 110,143,123 (GRCm39) |
F95S |
probably damaging |
Het |
| Emsy |
C |
T |
7: 98,270,613 (GRCm39) |
V450I |
possibly damaging |
Het |
| Exoc3 |
A |
T |
13: 74,338,298 (GRCm39) |
M362K |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,178,637 (GRCm39) |
D1474E |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,803,158 (GRCm39) |
C1587* |
probably null |
Het |
| Fosl2 |
T |
A |
5: 32,304,329 (GRCm39) |
L88Q |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,198,621 (GRCm39) |
D381G |
probably benign |
Het |
| Golim4 |
A |
C |
3: 75,863,440 (GRCm39) |
S56A |
probably damaging |
Het |
| Gpr39 |
T |
C |
1: 125,800,093 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,651,770 (GRCm39) |
I409V |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,311,596 (GRCm39) |
T1279A |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,569 (GRCm39) |
Q349L |
possibly damaging |
Het |
| Kcnc1 |
A |
T |
7: 46,077,691 (GRCm39) |
I498F |
possibly damaging |
Het |
| Kctd21 |
T |
A |
7: 96,996,704 (GRCm39) |
I59N |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,824,593 (GRCm39) |
T2577S |
probably benign |
Het |
| Mief2 |
G |
T |
11: 60,621,140 (GRCm39) |
R9M |
possibly damaging |
Het |
| Mmp3 |
T |
C |
9: 7,453,705 (GRCm39) |
V442A |
probably benign |
Het |
| Nkapd1 |
C |
A |
9: 50,518,972 (GRCm39) |
K213N |
possibly damaging |
Het |
| Nrxn3 |
C |
T |
12: 90,298,909 (GRCm39) |
R477W |
probably damaging |
Het |
| Or12e7 |
A |
G |
2: 87,288,336 (GRCm39) |
T276A |
probably benign |
Het |
| Or7a41 |
T |
A |
10: 78,871,122 (GRCm39) |
V164E |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,418,807 (GRCm39) |
T656A |
probably benign |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,015 (GRCm39) |
D270G |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,101,142 (GRCm39) |
D470G |
possibly damaging |
Het |
| Prdm1 |
T |
C |
10: 44,318,124 (GRCm39) |
E248G |
probably benign |
Het |
| Prtg |
C |
T |
9: 72,818,032 (GRCm39) |
|
probably benign |
Het |
| Ptpn1 |
T |
C |
2: 167,818,529 (GRCm39) |
Y424H |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,092,109 (GRCm39) |
V369A |
probably damaging |
Het |
| Rai1 |
T |
G |
11: 60,076,221 (GRCm39) |
V95G |
probably benign |
Het |
| Rasal3 |
T |
A |
17: 32,612,509 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,260,961 (GRCm39) |
E195G |
probably benign |
Het |
| Rhbdd3 |
T |
A |
11: 5,053,332 (GRCm39) |
L44Q |
probably damaging |
Het |
| Ripply2 |
T |
C |
9: 86,901,713 (GRCm39) |
W80R |
probably damaging |
Het |
| Rnf183 |
A |
G |
4: 62,346,760 (GRCm39) |
C13R |
probably damaging |
Het |
| Rorb |
A |
G |
19: 18,932,417 (GRCm39) |
L367P |
probably damaging |
Het |
| Rpl7a-ps5 |
C |
T |
17: 58,146,135 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,114,581 (GRCm39) |
N647D |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,351,187 (GRCm39) |
S341T |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,588,046 (GRCm39) |
S2632G |
probably benign |
Het |
| Scube1 |
A |
G |
15: 83,499,227 (GRCm39) |
C633R |
possibly damaging |
Het |
| Sdk1 |
A |
T |
5: 142,024,078 (GRCm39) |
I723F |
probably damaging |
Het |
| Sec23a |
A |
T |
12: 59,048,796 (GRCm39) |
C109S |
probably damaging |
Het |
| Septin11 |
T |
C |
5: 93,296,287 (GRCm39) |
F60L |
probably damaging |
Het |
| Sgf29 |
G |
A |
7: 126,271,063 (GRCm39) |
|
probably null |
Het |
| Skint5 |
A |
G |
4: 113,413,308 (GRCm39) |
|
probably benign |
Het |
| Smo |
G |
A |
6: 29,755,482 (GRCm39) |
V385I |
possibly damaging |
Het |
| Tada2a |
G |
A |
11: 84,000,837 (GRCm39) |
T76I |
probably damaging |
Het |
| Tas2r118 |
T |
A |
6: 23,969,422 (GRCm39) |
H213L |
possibly damaging |
Het |
| Thoc5 |
A |
T |
11: 4,861,427 (GRCm39) |
|
probably benign |
Het |
| Tmem33 |
T |
A |
5: 67,424,634 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
G |
15: 75,546,247 (GRCm39) |
L78P |
probably damaging |
Het |
| Uvssa |
T |
A |
5: 33,571,228 (GRCm39) |
|
probably benign |
Het |
| Vmn2r50 |
A |
T |
7: 9,784,062 (GRCm39) |
C137* |
probably null |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,691 (GRCm39) |
T861A |
probably benign |
Het |
| Wnt3 |
A |
T |
11: 103,699,077 (GRCm39) |
N61I |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,803,771 (GRCm39) |
I2535T |
probably 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 |
|
R0680:Zswim9
|
UTSW |
7 |
12,994,248 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- ACTTGGCAGAATCAGTGGGCTTC -3'
(R):5'- AGATGGGTCTGATGTCCAGCTCTTC -3'
Sequencing Primer
(F):5'- AGAATCAGTGGGCTTCTCTCC -3'
(R):5'- TCTACTCAAGGTCCCAGGATG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation