Incidental Mutation 'R6487:Shisa9'
| ID |
517489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shisa9
|
| Ensembl Gene |
ENSMUSG00000022494 |
| Gene Name |
shisa family member 9 |
| Synonyms |
2700045P11Rik, CKAMP44 |
| MMRRC Submission |
044619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6487 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
11801977-12088766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12062475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 232
(T232I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023138]
[ENSMUST00000170672]
|
| AlphaFold |
Q9CZN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023138
AA Change: T232I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000023138
Gene: ENSMUSG00000022494
AA Change: T232I
| 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 benign
Transcript: ENSMUST00000170672
AA Change: T232I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132646
Gene: ENSMUSG00000022494
AA Change: T232I
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,446 (GRCm39) |
Y963H |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,399,254 (GRCm39) |
N2108S |
possibly damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,528 (GRCm39) |
S641P |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,968,552 (GRCm39) |
V981I |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,012,694 (GRCm39) |
K277N |
possibly damaging |
Het |
| Cops5 |
T |
C |
1: 10,108,004 (GRCm39) |
T12A |
probably benign |
Het |
| Cyp2c37 |
A |
T |
19: 39,983,025 (GRCm39) |
T205S |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,808,284 (GRCm39) |
V3485A |
probably damaging |
Het |
| Ifna6 |
A |
T |
4: 88,745,743 (GRCm39) |
N31Y |
probably damaging |
Het |
| Irgm1 |
C |
A |
11: 48,756,777 (GRCm39) |
A345S |
probably benign |
Het |
| Kics2 |
T |
C |
10: 121,581,446 (GRCm39) |
L13P |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,221,976 (GRCm39) |
T218A |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,976,721 (GRCm39) |
D1225Y |
probably damaging |
Het |
| Npepl1 |
A |
G |
2: 173,953,525 (GRCm39) |
E152G |
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,923,055 (GRCm39) |
E440G |
possibly damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,182 (GRCm39) |
D20V |
probably benign |
Het |
| Or4k38 |
T |
C |
2: 111,166,012 (GRCm39) |
D137G |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,054,870 (GRCm39) |
S169P |
possibly damaging |
Het |
| Or5h26 |
A |
T |
16: 58,988,536 (GRCm39) |
|
probably null |
Het |
| Or8b54 |
A |
G |
9: 38,686,731 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
| Rims4 |
A |
T |
2: 163,706,817 (GRCm39) |
F187Y |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Slf1 |
A |
T |
13: 77,214,736 (GRCm39) |
I650N |
probably damaging |
Het |
| Tpst2 |
T |
C |
5: 112,455,989 (GRCm39) |
L176P |
probably damaging |
Het |
| U2surp |
A |
T |
9: 95,359,565 (GRCm39) |
M650K |
probably damaging |
Het |
| Vmn1r17 |
A |
T |
6: 57,338,209 (GRCm39) |
M3K |
possibly damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,149,554 (GRCm39) |
S290P |
probably benign |
Het |
| Vmn2r102 |
G |
A |
17: 19,898,169 (GRCm39) |
E395K |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,414,249 (GRCm39) |
H370Q |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,663,879 (GRCm39) |
S347G |
possibly 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 |
|
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 |
|
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 |
|
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'- TTTGATGCACAAGGCCCTGC -3'
(R):5'- ACTTCATAGGGAAAGGCTGAAT -3'
Sequencing Primer
(F):5'- CTGCACAGGGATGGGAACTTG -3'
(R):5'- CTTCATAGGGAAAGGCTGAATAAAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation