Incidental Mutation 'R1745:Zswim9'
| ID |
193921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim9
|
| Ensembl Gene |
ENSMUSG00000070814 |
| Gene Name |
zinc finger SWIM-type containing 9 |
| Synonyms |
6330408A02Rik |
| MMRRC Submission |
039777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12992894-13012647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13003482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 123
(S123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108532]
[ENSMUST00000119139]
[ENSMUST00000119558]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108532
AA Change: S123P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: S123P
| 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 damaging
Transcript: ENSMUST00000119139
AA Change: S123P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
AA Change: S123P
| 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 damaging
Transcript: ENSMUST00000119558
AA Change: S123P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140530
|
| Meta Mutation Damage Score |
0.1357 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,623,359 (GRCm39) |
V851E |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,870,620 (GRCm39) |
I351T |
probably benign |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,556,369 (GRCm39) |
E285G |
probably damaging |
Het |
| Arfgef1 |
A |
C |
1: 10,243,480 (GRCm39) |
I1023R |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,451,833 (GRCm39) |
V133I |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,753,403 (GRCm39) |
T401A |
possibly damaging |
Het |
| Capn3 |
G |
A |
2: 120,320,170 (GRCm39) |
V283M |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,823,587 (GRCm39) |
V1261E |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,878,636 (GRCm39) |
A174T |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,054,198 (GRCm39) |
V27A |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,859,766 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
A |
G |
14: 87,203,996 (GRCm39) |
L554P |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,358,696 (GRCm39) |
H293L |
probably benign |
Het |
| Erbin |
G |
T |
13: 103,975,957 (GRCm39) |
H646N |
probably damaging |
Het |
| Faiml |
T |
C |
9: 99,116,511 (GRCm39) |
N60D |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,774,723 (GRCm39) |
S245P |
probably benign |
Het |
| Flot1 |
A |
G |
17: 36,135,552 (GRCm39) |
E102G |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,190,204 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
A |
T |
10: 99,281,386 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
A |
G |
1: 54,473,371 (GRCm39) |
S81P |
probably damaging |
Het |
| Hs1bp3 |
C |
T |
12: 8,371,690 (GRCm39) |
Q91* |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,819,661 (GRCm39) |
C324R |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,443,275 (GRCm39) |
T276I |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Kctd1 |
A |
T |
18: 15,196,263 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,285,275 (GRCm39) |
M539K |
possibly damaging |
Het |
| Man2b1 |
T |
A |
8: 85,820,563 (GRCm39) |
F617I |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,473,570 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,806,691 (GRCm39) |
K1543R |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,165 (GRCm39) |
Y265C |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,424 (GRCm39) |
N185K |
probably benign |
Het |
| Nkx2-1 |
A |
G |
12: 56,580,529 (GRCm39) |
M137T |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,270 (GRCm39) |
T269A |
probably benign |
Het |
| Prickle2 |
A |
T |
6: 92,353,574 (GRCm39) |
Y631N |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,377,643 (GRCm39) |
T698A |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,648,059 (GRCm39) |
I690V |
probably benign |
Het |
| Rnf44 |
G |
A |
13: 54,830,005 (GRCm39) |
R271W |
probably damaging |
Het |
| Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,805,153 (GRCm39) |
Y904H |
probably damaging |
Het |
| Suz12 |
T |
C |
11: 79,912,922 (GRCm39) |
L322P |
probably damaging |
Het |
| Tnfsf13 |
G |
A |
11: 69,575,973 (GRCm39) |
A38V |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,186,044 (GRCm39) |
R62H |
probably benign |
Het |
| Tor1aip1 |
G |
T |
1: 155,906,180 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
T |
5: 114,771,215 (GRCm39) |
V438E |
probably damaging |
Het |
| Tsku |
A |
T |
7: 98,001,386 (GRCm39) |
V315E |
possibly damaging |
Het |
| Ttc38 |
T |
C |
15: 85,717,373 (GRCm39) |
L16P |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,759 (GRCm39) |
I54V |
probably damaging |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,196 (GRCm39) |
D98G |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,096,795 (GRCm39) |
D334E |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,682,494 (GRCm39) |
F3311Y |
unknown |
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 |
|
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'- TGCTACTTGTGAGACCCTACCTTGG -3'
(R):5'- ACAAAGGTGTGTGGTCATTTGGGAC -3'
Sequencing Primer
(F):5'- TTGCAGGGCATCTAGGACC -3'
(R):5'- tttaccatacagagatgaaatgcag -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation