Incidental Mutation 'IGL02011:Shisa9'
| ID |
183366 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shisa9
|
| Ensembl Gene |
ENSMUSG00000022494 |
| Gene Name |
shisa family member 9 |
| Synonyms |
2700045P11Rik, CKAMP44 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL02011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
11801977-12088766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12062502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 241
(T241I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023138]
[ENSMUST00000170672]
|
| AlphaFold |
Q9CZN4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023138
AA Change: T241I
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023138
Gene: ENSMUSG00000022494
AA Change: T241I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
61 |
N/A |
INTRINSIC |
|
Pfam:Shisa
|
70 |
254 |
7.9e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170672
AA Change: T241I
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132646
Gene: ENSMUSG00000022494
AA Change: T241I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
61 |
N/A |
INTRINSIC |
|
Pfam:Shisa
|
71 |
260 |
2.1e-55 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced AMPA-mediated synaptic currents in retinogeniculate and corticogeniculate synapses, enhanced paired-pulse facilitation in retinogeniculate synapses and decreased synaptic depression. [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 |
|---|
| Ap5m1 |
T |
A |
14: 49,318,592 (GRCm39) |
|
probably benign |
Het |
| Arg1 |
T |
C |
10: 24,792,275 (GRCm39) |
T215A |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 43,670,767 (GRCm39) |
K50N |
probably damaging |
Het |
| Ctdsp1 |
C |
T |
1: 74,433,175 (GRCm39) |
|
probably benign |
Het |
| Cwc22 |
A |
T |
2: 77,751,366 (GRCm39) |
D363E |
possibly damaging |
Het |
| Drd2 |
G |
T |
9: 49,318,258 (GRCm39) |
C400F |
probably damaging |
Het |
| Eef1akmt1 |
A |
T |
14: 57,795,555 (GRCm39) |
Y65N |
probably damaging |
Het |
| Gbp10 |
C |
A |
5: 105,368,967 (GRCm39) |
G291W |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,280 (GRCm39) |
V536E |
probably damaging |
Het |
| Or4d1 |
C |
A |
11: 87,805,708 (GRCm39) |
W8L |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,056 (GRCm39) |
R265L |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,621 (GRCm39) |
Y127N |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,414,473 (GRCm39) |
G884D |
probably damaging |
Het |
| Pih1d1 |
G |
T |
7: 44,806,156 (GRCm39) |
A31S |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,454 (GRCm39) |
D317G |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,717,565 (GRCm39) |
F231S |
probably damaging |
Het |
| Raet1d |
T |
A |
10: 22,247,473 (GRCm39) |
I183K |
probably damaging |
Het |
| Scaper |
A |
G |
9: 55,487,606 (GRCm39) |
F752S |
probably damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,437,565 (GRCm39) |
V365E |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,421,554 (GRCm39) |
S3077F |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,283,399 (GRCm39) |
I566V |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,421,717 (GRCm39) |
T414S |
probably benign |
Het |
| Xpnpep1 |
A |
T |
19: 52,990,896 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,087,035 (GRCm39) |
Q288R |
probably damaging |
Het |
|
| Other mutations in Shisa9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01981:Shisa9
|
APN |
16 |
12,062,522 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02884:Shisa9
|
APN |
16 |
11,814,907 (GRCm39) |
splice site |
probably benign |
|
|
PIT4508001:Shisa9
|
UTSW |
16 |
12,085,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0194:Shisa9
|
UTSW |
16 |
11,802,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Shisa9
|
UTSW |
16 |
11,814,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Shisa9
|
UTSW |
16 |
12,085,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Shisa9
|
UTSW |
16 |
11,802,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Shisa9
|
UTSW |
16 |
11,802,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Shisa9
|
UTSW |
16 |
12,085,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1818:Shisa9
|
UTSW |
16 |
12,085,426 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1943:Shisa9
|
UTSW |
16 |
12,085,620 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2263:Shisa9
|
UTSW |
16 |
11,802,631 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3742:Shisa9
|
UTSW |
16 |
12,085,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Shisa9
|
UTSW |
16 |
12,085,412 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5977:Shisa9
|
UTSW |
16 |
12,085,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6032:Shisa9
|
UTSW |
16 |
11,802,772 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6032:Shisa9
|
UTSW |
16 |
11,802,772 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6487:Shisa9
|
UTSW |
16 |
12,062,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6773:Shisa9
|
UTSW |
16 |
11,802,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Shisa9
|
UTSW |
16 |
11,815,015 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9035:Shisa9
|
UTSW |
16 |
11,802,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Shisa9
|
UTSW |
16 |
12,085,408 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9454:Shisa9
|
UTSW |
16 |
11,802,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9658:Shisa9
|
UTSW |
16 |
12,062,520 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9665:Shisa9
|
UTSW |
16 |
12,085,446 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation