Incidental Mutation 'IGL02118:Cask'
| ID |
280472 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cask
|
| Ensembl Gene |
ENSMUSG00000031012 |
| Gene Name |
calcium/calmodulin dependent serine protein kinase |
| Synonyms |
DXRib1, mLin-2, DXPri1, LIN-2, Pals3 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL02118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
13383319-13713020 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13425634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 471
(I471V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033321]
[ENSMUST00000115436]
[ENSMUST00000115438]
[ENSMUST00000156096]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033321
AA Change: I497V
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012
AA Change: I497V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
276 |
1.22e-100 |
SMART |
|
L27
|
340 |
395 |
8.68e-14 |
SMART |
|
L27
|
399 |
452 |
1.67e-15 |
SMART |
|
PDZ
|
493 |
565 |
4.01e-14 |
SMART |
|
SH3
|
597 |
663 |
1.75e-12 |
SMART |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
GuKc
|
720 |
896 |
7.41e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115436
AA Change: I497V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012
AA Change: I497V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
276 |
1.22e-100 |
SMART |
|
L27
|
340 |
395 |
8.68e-14 |
SMART |
|
L27
|
399 |
452 |
1.67e-15 |
SMART |
|
PDZ
|
493 |
565 |
4.01e-14 |
SMART |
|
SH3
|
586 |
652 |
1.75e-12 |
SMART |
|
low complexity region
|
674 |
686 |
N/A |
INTRINSIC |
|
GuKc
|
709 |
885 |
7.41e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115438
AA Change: I497V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012
AA Change: I497V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
276 |
1.22e-100 |
SMART |
|
L27
|
340 |
395 |
8.68e-14 |
SMART |
|
L27
|
399 |
452 |
1.67e-15 |
SMART |
|
PDZ
|
493 |
565 |
4.01e-14 |
SMART |
|
SH3
|
609 |
675 |
1.75e-12 |
SMART |
|
low complexity region
|
697 |
709 |
N/A |
INTRINSIC |
|
GuKc
|
732 |
908 |
7.41e-78 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139735
|
| SMART Domains |
Protein: ENSMUSP00000117862
Gene: ENSMUSG00000031012
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDZ
|
1 |
45 |
1.4e-9 |
PFAM |
|
SH3
|
57 |
123 |
1.75e-12 |
SMART |
|
low complexity region
|
145 |
157 |
N/A |
INTRINSIC |
|
GuKc
|
180 |
282 |
4.77e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152358
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156096
AA Change: I471V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012
AA Change: I471V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
250 |
2.71e-84 |
SMART |
|
L27
|
314 |
369 |
8.68e-14 |
SMART |
|
L27
|
373 |
426 |
1.67e-15 |
SMART |
|
PDZ
|
467 |
539 |
4.01e-14 |
SMART |
|
SH3
|
560 |
626 |
1.75e-12 |
SMART |
|
low complexity region
|
648 |
660 |
N/A |
INTRINSIC |
|
GuKc
|
683 |
859 |
7.41e-78 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mutation of this gene results in cleft palate and perinatal lethality in hemizygous males and death within 2 weeks in females on a C57BL/6J background. Some female animals on a CD1 background survive to adulthood exhibiting patchy fur, wrinkled skin, a kinked tail and spine, and give birth to small and infrequent litters. Male and female animals on all genetic backgrounds exhibit reduced head size, shortened jaw, and a pointed snout. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Actn2 |
A |
G |
13: 12,291,433 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Aldob |
T |
A |
4: 49,538,790 (GRCm39) |
K243* |
probably null |
Het |
| Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
| Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
| Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,407,467 (GRCm39) |
L661P |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
| Retreg1 |
T |
G |
15: 25,966,709 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
| Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
| Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
| Sema6b |
G |
T |
17: 56,439,821 (GRCm39) |
P7T |
probably benign |
Het |
| Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
| Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
| Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,216,186 (GRCm39) |
D19V |
probably damaging |
Het |
| Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
| Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,835,879 (GRCm39) |
D14G |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
| Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
probably damaging |
Het |
|
| Other mutations in Cask |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01317:Cask
|
APN |
X |
13,388,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02437:Cask
|
APN |
X |
13,403,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Cask
|
APN |
X |
13,423,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02635:Cask
|
APN |
X |
13,581,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02903:Cask
|
APN |
X |
13,418,686 (GRCm39) |
intron |
probably benign |
|
|
IGL03225:Cask
|
APN |
X |
13,531,760 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0076:Cask
|
UTSW |
X |
13,544,513 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Cask
|
UTSW |
X |
13,399,728 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2015-04-16 |
Incidental Mutation