Incidental Mutation 'R1080:Zswim6'
| ID |
85838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim6
|
| Ensembl Gene |
ENSMUSG00000032846 |
| Gene Name |
zinc finger SWIM-type containing 6 |
| Synonyms |
2900036G02Rik |
| MMRRC Submission |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.436)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
107861152-108026598 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
A to G
at 107924186 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: ENSMUST00000225822
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
| Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
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 |
|
|
R0069:Zswim6
|
UTSW |
13 |
107,875,098 (GRCm39) |
exon |
noncoding transcript |
|
|
R0834:Zswim6
|
UTSW |
13 |
107,862,989 (GRCm39) |
exon |
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCTTGCCTTCCAGCATAAAC -3'
(R):5'- GGCACAGTGACAGAACCTGCAATAC -3'
Sequencing Primer
(F):5'- ACCGCTTCCTAAGAAGTGCTG -3'
(R):5'- GTTGCAAGATTACCTCAGTGACC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation