Incidental Mutation 'R4213:Zswim1'
| ID |
319292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim1
|
| Ensembl Gene |
ENSMUSG00000017764 |
| Gene Name |
zinc finger SWIM-type containing 1 |
| Synonyms |
2410003H12Rik |
| MMRRC Submission |
041040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R4213 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164664933-164668791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164667705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 319
(V319A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017908]
[ENSMUST00000017911]
[ENSMUST00000042775]
[ENSMUST00000052107]
[ENSMUST00000132282]
|
| AlphaFold |
Q9CWV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017908
AA Change: V319A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000017908
Gene: ENSMUSG00000017764
AA Change: V319A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIM
|
342 |
375 |
2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017911
|
| SMART Domains |
Protein: ENSMUSP00000017911
Gene: ENSMUSG00000017767
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPATA25
|
1 |
226 |
3.2e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042775
|
| SMART Domains |
Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neuralized
|
25 |
90 |
1.1e-27 |
PFAM |
|
SOCS_box
|
248 |
285 |
3.77e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052107
|
| SMART Domains |
Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
|
ZnF_PMZ
|
546 |
573 |
2.09e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141411
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
C |
8: 123,617,765 (GRCm39) |
V2029G |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,178,988 (GRCm39) |
V291E |
probably benign |
Het |
| Cad |
G |
A |
5: 31,229,688 (GRCm39) |
V1390I |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,599,462 (GRCm39) |
D281E |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,008 (GRCm39) |
T655I |
probably damaging |
Het |
| Cep350 |
C |
G |
1: 155,811,707 (GRCm39) |
G411A |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,261 (GRCm39) |
F210L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,430,865 (GRCm39) |
M1679K |
unknown |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,525,225 (GRCm39) |
F527V |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,960 (GRCm39) |
T298I |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,731,571 (GRCm39) |
L731P |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,989,581 (GRCm39) |
T343A |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,011,106 (GRCm39) |
L72P |
probably damaging |
Het |
| Gpr137c |
G |
A |
14: 45,483,965 (GRCm39) |
E231K |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,183,139 (GRCm39) |
N1112S |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kplce |
G |
A |
3: 92,776,434 (GRCm39) |
P83L |
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,506 (GRCm39) |
T87P |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,465 (GRCm39) |
Y169C |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,824,553 (GRCm39) |
A510S |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,916,038 (GRCm39) |
E1275K |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sqor |
G |
T |
2: 122,629,418 (GRCm39) |
G92V |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,563 (GRCm39) |
I452N |
probably damaging |
Het |
| Tob1 |
A |
G |
11: 94,105,018 (GRCm39) |
T185A |
probably damaging |
Het |
| Yjefn3 |
G |
T |
8: 70,343,540 (GRCm39) |
H50Q |
probably benign |
Het |
|
| Other mutations in Zswim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0268:Zswim1
|
UTSW |
2 |
164,668,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0321:Zswim1
|
UTSW |
2 |
164,667,947 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0490:Zswim1
|
UTSW |
2 |
164,667,203 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1795:Zswim1
|
UTSW |
2 |
164,667,320 (GRCm39) |
missense |
probably benign |
|
|
R4396:Zswim1
|
UTSW |
2 |
164,667,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Zswim1
|
UTSW |
2 |
164,667,939 (GRCm39) |
missense |
probably benign |
|
|
R5290:Zswim1
|
UTSW |
2 |
164,667,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6178:Zswim1
|
UTSW |
2 |
164,667,972 (GRCm39) |
splice site |
probably null |
|
|
R6547:Zswim1
|
UTSW |
2 |
164,666,716 (GRCm39) |
start gained |
probably benign |
|
|
R7247:Zswim1
|
UTSW |
2 |
164,667,719 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7442:Zswim1
|
UTSW |
2 |
164,667,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8774:Zswim1
|
UTSW |
2 |
164,668,062 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8774-TAIL:Zswim1
|
UTSW |
2 |
164,668,062 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCTTCGGACAAAGCCAG -3'
(R):5'- ACTGTCTAGACTGGAGGCACAG -3'
Sequencing Primer
(F):5'- TTCGGACAAAGCCAGCCTCAG -3'
(R):5'- AGCATGTCGGGCTGGAGTAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation