Incidental Mutation 'R0588:Shisa9'
| ID |
55847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shisa9
|
| Ensembl Gene |
ENSMUSG00000022494 |
| Gene Name |
shisa family member 9 |
| Synonyms |
2700045P11Rik, CKAMP44 |
| MMRRC Submission |
038778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R0588 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
11801977-12088766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12085638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 416
(T416A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023138]
[ENSMUST00000170672]
|
| AlphaFold |
Q9CZN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023138
AA Change: T400A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023138
Gene: ENSMUSG00000022494
AA Change: T400A
| 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 |
probably damaging
Transcript: ENSMUST00000170672
AA Change: T416A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132646
Gene: ENSMUSG00000022494
AA Change: T416A
| 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 |
|
| Meta Mutation Damage Score |
0.0950 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (25/25) |
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,548,787 (GRCm39) |
K1299* |
probably null |
Het |
| Adamts2 |
G |
T |
11: 50,667,491 (GRCm39) |
W476C |
probably damaging |
Het |
| Ankrd13c |
T |
C |
3: 157,711,454 (GRCm39) |
F525L |
probably damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,522 (GRCm39) |
S102G |
probably damaging |
Het |
| Atp2a3 |
A |
T |
11: 72,863,850 (GRCm39) |
D192V |
possibly damaging |
Het |
| Cabin1 |
T |
C |
10: 75,581,171 (GRCm39) |
E385G |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,606,538 (GRCm39) |
D1020E |
probably damaging |
Het |
| Calcb |
C |
T |
7: 114,319,361 (GRCm39) |
H48Y |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,892,199 (GRCm39) |
S4P |
probably damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,247,792 (GRCm39) |
I147T |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 121,643,514 (GRCm39) |
|
probably benign |
Het |
| Fas |
T |
C |
19: 34,304,540 (GRCm39) |
V267A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,584,746 (GRCm39) |
L84P |
probably damaging |
Het |
| Fyb1 |
T |
C |
15: 6,609,940 (GRCm39) |
V171A |
probably benign |
Het |
| Gdap2 |
T |
A |
3: 100,077,317 (GRCm39) |
M1K |
probably null |
Het |
| Gprc5b |
T |
A |
7: 118,583,218 (GRCm39) |
Q217L |
probably benign |
Het |
| Lrrc69 |
A |
G |
4: 14,704,001 (GRCm39) |
I273T |
possibly damaging |
Het |
| Map4k4 |
C |
A |
1: 40,044,024 (GRCm39) |
Q556K |
possibly damaging |
Het |
| Npy6r |
T |
A |
18: 44,408,888 (GRCm39) |
V103E |
possibly damaging |
Het |
| Or5b24 |
A |
G |
19: 12,912,111 (GRCm39) |
Y3C |
probably benign |
Het |
| Slc26a9 |
C |
A |
1: 131,681,749 (GRCm39) |
|
probably benign |
Het |
| Sostdc1 |
G |
T |
12: 36,367,020 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,962 (GRCm39) |
F510L |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,810,106 (GRCm39) |
|
probably benign |
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 |
|
IGL02011:Shisa9
|
APN |
16 |
12,062,502 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAATGGACAGAAGTCTCGCAC -3'
(R):5'- GCATGACCCAGGAAAAGCATGACTC -3'
Sequencing Primer
(F):5'- GTCTCGCACCAACAAGATG -3'
(R):5'- AGGTCTGTGGTTGGTTCCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation