Incidental Mutation 'R0069:Zswim6'
| ID |
16409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim6
|
| Ensembl Gene |
ENSMUSG00000032846 |
| Gene Name |
zinc finger SWIM-type containing 6 |
| Synonyms |
2900036G02Rik |
| MMRRC Submission |
038360-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
R0069 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
107861152-108026598 bp(-) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
T to C
at 107875098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105097
|
| SMART Domains |
Protein: ENSMUSP00000100724
Gene: ENSMUSG00000032846
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225822
|
| Meta Mutation Damage Score |
0.1804 |
| Coding Region Coverage |
- 1x: 86.4%
- 3x: 80.4%
- 10x: 57.4%
- 20x: 26.1%
|
| Validation Efficiency |
94% (60/64) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, decreased striatal volume, abnormal medium spiny neuron morphology, and altered motor control including hyperactivity, impaired rotarod performance, repetitive movements, and behavioral hyperresponsiveness to amphetamine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,538,525 (GRCm39) |
C632S |
probably damaging |
Het |
| Ccnb1ip1 |
G |
A |
14: 81,519,382 (GRCm38) |
Q322* |
probably null |
Het |
| Cd101 |
A |
G |
3: 100,915,533 (GRCm39) |
V678A |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,367 (GRCm39) |
I240V |
possibly damaging |
Het |
| Dctn2 |
A |
T |
10: 127,113,354 (GRCm39) |
|
probably null |
Het |
| Diablo |
A |
T |
5: 123,656,087 (GRCm39) |
S117R |
probably damaging |
Het |
| Ebf2 |
A |
T |
14: 67,647,499 (GRCm39) |
R349S |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,060,099 (GRCm39) |
V98G |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,307,954 (GRCm39) |
|
probably benign |
Het |
| Itgal |
A |
G |
7: 126,909,503 (GRCm39) |
T56A |
probably benign |
Het |
| Lzts3 |
T |
A |
2: 130,478,460 (GRCm39) |
T213S |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,528,779 (GRCm39) |
I681T |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,968,871 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
T |
12: 69,256,661 (GRCm39) |
V288E |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,937,849 (GRCm39) |
S2P |
probably benign |
Het |
| Ppp2r5c |
A |
T |
12: 110,534,204 (GRCm39) |
M356L |
probably benign |
Het |
| Rad54l2 |
C |
A |
9: 106,587,564 (GRCm39) |
V734L |
possibly damaging |
Het |
| Ryr1 |
A |
C |
7: 28,809,930 (GRCm39) |
|
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,368 (GRCm39) |
|
noncoding transcript |
Het |
| Sult1e1 |
A |
T |
5: 87,727,756 (GRCm39) |
H175Q |
probably damaging |
Het |
| Trgv7 |
A |
G |
13: 19,362,592 (GRCm39) |
R94G |
probably benign |
Het |
| Ube2e3 |
C |
A |
2: 78,750,293 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,789,133 (GRCm39) |
I746T |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,314,999 (GRCm39) |
V233A |
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,859 (GRCm39) |
S222T |
probably damaging |
Het |
|
| Other mutations in Zswim6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01670:Zswim6
|
APN |
13 |
107,865,101 (GRCm39) |
splice site |
noncoding transcript |
|
|
IGL02367:Zswim6
|
APN |
13 |
107,880,637 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02622:Zswim6
|
APN |
13 |
107,884,786 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL03000:Zswim6
|
APN |
13 |
107,863,650 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL03000:Zswim6
|
APN |
13 |
107,863,649 (GRCm39) |
exon |
noncoding transcript |
|
|
R0069:Zswim6
|
UTSW |
13 |
107,875,098 (GRCm39) |
exon |
noncoding transcript |
|
|
R0834:Zswim6
|
UTSW |
13 |
107,862,989 (GRCm39) |
exon |
noncoding transcript |
|
|
R1080:Zswim6
|
UTSW |
13 |
107,924,186 (GRCm39) |
critical splice donor site |
noncoding transcript |
|
|
R1542:Zswim6
|
UTSW |
13 |
107,863,769 (GRCm39) |
exon |
noncoding transcript |
|
|
R2081:Zswim6
|
UTSW |
13 |
107,909,930 (GRCm39) |
exon |
noncoding transcript |
|
|
R2133:Zswim6
|
UTSW |
13 |
107,880,522 (GRCm39) |
exon |
noncoding transcript |
|
|
R3692:Zswim6
|
UTSW |
13 |
107,863,076 (GRCm39) |
exon |
noncoding transcript |
|
|
R4323:Zswim6
|
UTSW |
13 |
108,025,938 (GRCm39) |
exon |
noncoding transcript |
|
|
R4345:Zswim6
|
UTSW |
13 |
107,863,466 (GRCm39) |
exon |
noncoding transcript |
|
|
R4369:Zswim6
|
UTSW |
13 |
107,863,229 (GRCm39) |
exon |
noncoding transcript |
|
|
R5049:Zswim6
|
UTSW |
13 |
107,863,110 (GRCm39) |
exon |
noncoding transcript |
|
|
R5111:Zswim6
|
UTSW |
13 |
107,865,170 (GRCm39) |
exon |
noncoding transcript |
|
|
R5174:Zswim6
|
UTSW |
13 |
107,863,216 (GRCm39) |
exon |
noncoding transcript |
|
|
R5531:Zswim6
|
UTSW |
13 |
107,906,128 (GRCm39) |
exon |
noncoding transcript |
|
|
R5933:Zswim6
|
UTSW |
13 |
107,880,642 (GRCm39) |
exon |
noncoding transcript |
|
|
R5934:Zswim6
|
UTSW |
13 |
107,880,642 (GRCm39) |
exon |
noncoding transcript |
|
|
R6063:Zswim6
|
UTSW |
13 |
107,865,112 (GRCm39) |
exon |
noncoding transcript |
|
|
R6168:Zswim6
|
UTSW |
13 |
107,924,299 (GRCm39) |
exon |
noncoding transcript |
|
|
X0022:Zswim6
|
UTSW |
13 |
107,866,859 (GRCm39) |
exon |
noncoding transcript |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation