Incidental Mutation 'R4554:Zswim9'
| ID |
341805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim9
|
| Ensembl Gene |
ENSMUSG00000070814 |
| Gene Name |
zinc finger SWIM-type containing 9 |
| Synonyms |
6330408A02Rik |
| MMRRC Submission |
041596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4554 (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 13011088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 87
(N87D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098814]
[ENSMUST00000108532]
[ENSMUST00000119139]
[ENSMUST00000119558]
[ENSMUST00000123025]
[ENSMUST00000165964]
[ENSMUST00000177588]
[ENSMUST00000146998]
[ENSMUST00000185145]
[ENSMUST00000144470]
|
| 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 |
probably benign
Transcript: ENSMUST00000108532
AA Change: N87D
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: N87D
| 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: N87D
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
AA Change: N87D
| 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: N87D
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| 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: 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 |
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 |
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: 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: 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: ENSMUST00000144470
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 121,949,992 (GRCm39) |
A1772V |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,294 (GRCm39) |
G4526D |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,601,599 (GRCm39) |
R2150H |
probably benign |
Het |
| Amh |
A |
T |
10: 80,642,885 (GRCm39) |
E356D |
probably benign |
Het |
| Cap2 |
T |
A |
13: 46,789,250 (GRCm39) |
F152I |
probably damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,485,631 (GRCm39) |
M206K |
unknown |
Het |
| Lsamp |
G |
C |
16: 41,964,438 (GRCm39) |
D271H |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,752,406 (GRCm39) |
V133G |
probably damaging |
Het |
| Ngrn |
C |
T |
7: 79,914,449 (GRCm39) |
T200I |
possibly damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,123 (GRCm39) |
N310Y |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,469,216 (GRCm39) |
T117A |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,539,529 (GRCm39) |
K357E |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,720,100 (GRCm39) |
R325H |
probably benign |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,946 (GRCm39) |
P366L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,762 (GRCm39) |
N359S |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,804,433 (GRCm39) |
T499A |
probably benign |
Het |
| Tex2 |
G |
T |
11: 106,435,212 (GRCm39) |
P738H |
unknown |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,699,847 (GRCm39) |
Q452R |
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 |
|
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 |
|
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 |
|
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'- AACCCTGTATATCAAGTCTGGGTTG -3'
(R):5'- TTCAGCCGCTTCTTCGACAAG -3'
Sequencing Primer
(F):5'- TGGCTCAGACTCCATCTCAGTAAG -3'
(R):5'- CTTCTTCGACAAGTGGTGCCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation