Incidental Mutation 'IGL00402:Caskin1'
| ID |
5769 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Caskin1
|
| Ensembl Gene |
ENSMUSG00000033597 |
| Gene Name |
CASK interacting protein 1 |
| Synonyms |
3300002N10Rik, C630036E02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL00402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24707575-24727645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24722863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 577
(I577T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
[ENSMUST00000070777]
[ENSMUST00000088464]
[ENSMUST00000176086]
[ENSMUST00000176353]
[ENSMUST00000176652]
[ENSMUST00000176668]
|
| AlphaFold |
Q6P9K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024958
AA Change: I577T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: I577T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
48 |
77 |
9.93e-5 |
SMART |
|
ANK
|
81 |
110 |
1.9e-1 |
SMART |
|
ANK
|
114 |
143 |
1.51e-4 |
SMART |
|
ANK
|
147 |
176 |
1.15e0 |
SMART |
|
ANK
|
188 |
217 |
2.6e-8 |
SMART |
|
ANK
|
220 |
249 |
3.31e-1 |
SMART |
|
SH3
|
284 |
346 |
3.62e-5 |
SMART |
|
Pfam:Caskin1-CID
|
373 |
421 |
3e-26 |
PFAM |
|
SAM
|
473 |
539 |
3.63e-15 |
SMART |
|
SAM
|
542 |
609 |
5.41e-14 |
SMART |
|
low complexity region
|
631 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
863 |
N/A |
INTRINSIC |
|
Pfam:Caskin-Pro-rich
|
878 |
966 |
3e-37 |
PFAM |
|
low complexity region
|
1163 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1216 |
N/A |
INTRINSIC |
|
low complexity region
|
1222 |
1232 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1288 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1315 |
1333 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1359 |
N/A |
INTRINSIC |
|
Pfam:Caskin-tail
|
1369 |
1431 |
7.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070777
|
| SMART Domains |
Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
RING
|
92 |
125 |
4.73e-6 |
SMART |
|
coiled coil region
|
264 |
332 |
N/A |
INTRINSIC |
|
WD40
|
344 |
383 |
8.35e-11 |
SMART |
|
WD40
|
387 |
424 |
8.42e-7 |
SMART |
|
WD40
|
427 |
463 |
2.09e-2 |
SMART |
|
WD40
|
468 |
504 |
1.92e0 |
SMART |
|
WD40
|
507 |
544 |
5.15e-2 |
SMART |
|
WD40
|
547 |
588 |
1.78e-5 |
SMART |
|
WD40
|
591 |
628 |
1.63e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088464
|
| SMART Domains |
Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
117 |
N/A |
INTRINSIC |
|
RING
|
130 |
163 |
4.73e-6 |
SMART |
|
Pfam:zf-TRAF
|
221 |
277 |
3.4e-8 |
PFAM |
|
coiled coil region
|
304 |
372 |
N/A |
INTRINSIC |
|
WD40
|
384 |
423 |
8.35e-11 |
SMART |
|
WD40
|
427 |
464 |
8.42e-7 |
SMART |
|
WD40
|
467 |
503 |
2.09e-2 |
SMART |
|
WD40
|
508 |
544 |
1.92e0 |
SMART |
|
WD40
|
547 |
584 |
5.15e-2 |
SMART |
|
WD40
|
587 |
628 |
1.78e-5 |
SMART |
|
WD40
|
631 |
668 |
1.63e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176086
|
| SMART Domains |
Protein: ENSMUSP00000135845
Gene: ENSMUSG00000052752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176353
|
| SMART Domains |
Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
RING
|
92 |
125 |
4.73e-6 |
SMART |
|
coiled coil region
|
264 |
332 |
N/A |
INTRINSIC |
|
WD40
|
344 |
383 |
8.35e-11 |
SMART |
|
WD40
|
387 |
424 |
8.42e-7 |
SMART |
|
WD40
|
427 |
463 |
2.09e-2 |
SMART |
|
WD40
|
468 |
504 |
1.92e0 |
SMART |
|
WD40
|
507 |
544 |
5.15e-2 |
SMART |
|
WD40
|
547 |
588 |
1.78e-5 |
SMART |
|
WD40
|
591 |
628 |
1.63e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176652
|
| SMART Domains |
Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
117 |
N/A |
INTRINSIC |
|
RING
|
130 |
163 |
4.73e-6 |
SMART |
|
coiled coil region
|
304 |
372 |
N/A |
INTRINSIC |
|
WD40
|
384 |
423 |
8.35e-11 |
SMART |
|
WD40
|
427 |
464 |
8.42e-7 |
SMART |
|
WD40
|
467 |
503 |
2.09e-2 |
SMART |
|
WD40
|
508 |
544 |
1.92e0 |
SMART |
|
WD40
|
547 |
584 |
5.15e-2 |
SMART |
|
WD40
|
587 |
628 |
1.78e-5 |
SMART |
|
WD40
|
631 |
668 |
1.63e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176668
|
| SMART Domains |
Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177024
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,514,165 (GRCm39) |
L846H |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,075,535 (GRCm39) |
L1319I |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,043,065 (GRCm39) |
|
probably benign |
Het |
| Atg16l2 |
A |
C |
7: 100,945,360 (GRCm39) |
S268R |
probably benign |
Het |
| Atp1b3 |
T |
C |
9: 96,215,756 (GRCm39) |
|
probably benign |
Het |
| Atxn7 |
T |
G |
14: 14,096,324 (GRCm38) |
|
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,880,558 (GRCm39) |
|
probably benign |
Het |
| C4b |
G |
A |
17: 34,953,402 (GRCm39) |
T1027I |
probably damaging |
Het |
| Cbx6 |
A |
G |
15: 79,713,130 (GRCm39) |
V99A |
possibly damaging |
Het |
| Ccr9 |
A |
C |
9: 123,609,109 (GRCm39) |
I252L |
probably benign |
Het |
| Cdh8 |
A |
T |
8: 100,006,322 (GRCm39) |
D88E |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,749,306 (GRCm39) |
S258P |
probably damaging |
Het |
| Cep57l1 |
T |
G |
10: 41,597,547 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,822,178 (GRCm39) |
H234Q |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,588,819 (GRCm39) |
T1099A |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,469,362 (GRCm39) |
G802D |
unknown |
Het |
| Ddx41 |
T |
C |
13: 55,679,212 (GRCm39) |
T545A |
probably damaging |
Het |
| Disc1 |
A |
T |
8: 125,815,014 (GRCm39) |
T293S |
probably benign |
Het |
| Fam13b |
A |
T |
18: 34,587,771 (GRCm39) |
V509D |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,095,837 (GRCm39) |
P192L |
probably benign |
Het |
| Fn1 |
C |
A |
1: 71,680,322 (GRCm39) |
C461F |
probably damaging |
Het |
| Gm14226 |
G |
T |
2: 154,867,078 (GRCm39) |
S345I |
probably damaging |
Het |
| Gopc |
T |
C |
10: 52,225,326 (GRCm39) |
K308E |
probably damaging |
Het |
| Hapln2 |
A |
T |
3: 87,931,641 (GRCm39) |
N28K |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,891 (GRCm39) |
S1394G |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,806,215 (GRCm39) |
H1807R |
probably benign |
Het |
| Ifnl2 |
A |
T |
7: 28,208,290 (GRCm39) |
V193D |
possibly damaging |
Het |
| Il1rap |
T |
A |
16: 26,541,151 (GRCm39) |
M464K |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,557 (GRCm39) |
C282* |
probably null |
Het |
| Ltv1 |
C |
T |
10: 13,066,327 (GRCm39) |
V100I |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,050,857 (GRCm39) |
S308P |
probably damaging |
Het |
| Narf |
G |
A |
11: 121,129,344 (GRCm39) |
|
probably null |
Het |
| Nmd3 |
T |
A |
3: 69,652,573 (GRCm39) |
N386K |
possibly damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,910 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,406 (GRCm39) |
I214N |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,542,366 (GRCm39) |
G114D |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,123,014 (GRCm39) |
S339P |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,617,326 (GRCm39) |
V1072A |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,577,760 (GRCm39) |
M1054L |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,975,864 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
C |
T |
11: 72,294,085 (GRCm39) |
|
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,648,287 (GRCm39) |
I25F |
probably benign |
Het |
| Vit |
G |
A |
17: 78,909,336 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,926,372 (GRCm39) |
D3891G |
possibly damaging |
Het |
| Zfp207 |
T |
A |
11: 80,283,911 (GRCm39) |
M277K |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,732,623 (GRCm39) |
D641G |
probably benign |
Het |
|
| Other mutations in Caskin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Caskin1
|
APN |
17 |
24,718,323 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01120:Caskin1
|
APN |
17 |
24,724,343 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01543:Caskin1
|
APN |
17 |
24,723,522 (GRCm39) |
missense |
probably benign |
|
|
IGL01622:Caskin1
|
APN |
17 |
24,722,914 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01623:Caskin1
|
APN |
17 |
24,722,914 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02120:Caskin1
|
APN |
17 |
24,719,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02816:Caskin1
|
APN |
17 |
24,721,144 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02898:Caskin1
|
APN |
17 |
24,721,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03353:Caskin1
|
APN |
17 |
24,718,331 (GRCm39) |
splice site |
probably benign |
|
|
PIT4151001:Caskin1
|
UTSW |
17 |
24,721,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Caskin1
|
UTSW |
17 |
24,718,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Caskin1
|
UTSW |
17 |
24,723,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Caskin1
|
UTSW |
17 |
24,723,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0190:Caskin1
|
UTSW |
17 |
24,723,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0443:Caskin1
|
UTSW |
17 |
24,724,374 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0885:Caskin1
|
UTSW |
17 |
24,724,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1035:Caskin1
|
UTSW |
17 |
24,724,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1253:Caskin1
|
UTSW |
17 |
24,724,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Caskin1
|
UTSW |
17 |
24,723,515 (GRCm39) |
nonsense |
probably null |
|
|
R1589:Caskin1
|
UTSW |
17 |
24,724,452 (GRCm39) |
splice site |
probably null |
|
|
R1651:Caskin1
|
UTSW |
17 |
24,721,186 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1944:Caskin1
|
UTSW |
17 |
24,719,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1969:Caskin1
|
UTSW |
17 |
24,725,824 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2057:Caskin1
|
UTSW |
17 |
24,715,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2127:Caskin1
|
UTSW |
17 |
24,715,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2158:Caskin1
|
UTSW |
17 |
24,724,128 (GRCm39) |
missense |
probably benign |
|
|
R2402:Caskin1
|
UTSW |
17 |
24,722,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2895:Caskin1
|
UTSW |
17 |
24,708,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3423:Caskin1
|
UTSW |
17 |
24,718,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3800:Caskin1
|
UTSW |
17 |
24,720,246 (GRCm39) |
missense |
probably benign |
|
|
R4108:Caskin1
|
UTSW |
17 |
24,721,121 (GRCm39) |
missense |
probably benign |
|
|
R4419:Caskin1
|
UTSW |
17 |
24,723,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Caskin1
|
UTSW |
17 |
24,725,602 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4511:Caskin1
|
UTSW |
17 |
24,725,602 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4552:Caskin1
|
UTSW |
17 |
24,725,602 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4638:Caskin1
|
UTSW |
17 |
24,725,602 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4642:Caskin1
|
UTSW |
17 |
24,725,602 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4644:Caskin1
|
UTSW |
17 |
24,725,602 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4824:Caskin1
|
UTSW |
17 |
24,720,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4882:Caskin1
|
UTSW |
17 |
24,723,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Caskin1
|
UTSW |
17 |
24,726,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Caskin1
|
UTSW |
17 |
24,726,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Caskin1
|
UTSW |
17 |
24,723,521 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5841:Caskin1
|
UTSW |
17 |
24,715,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5877:Caskin1
|
UTSW |
17 |
24,724,239 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5960:Caskin1
|
UTSW |
17 |
24,717,869 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5994:Caskin1
|
UTSW |
17 |
24,715,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6022:Caskin1
|
UTSW |
17 |
24,715,709 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6209:Caskin1
|
UTSW |
17 |
24,726,095 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6228:Caskin1
|
UTSW |
17 |
24,726,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6287:Caskin1
|
UTSW |
17 |
24,715,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6497:Caskin1
|
UTSW |
17 |
24,723,522 (GRCm39) |
missense |
probably benign |
|
|
R6873:Caskin1
|
UTSW |
17 |
24,723,153 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7079:Caskin1
|
UTSW |
17 |
24,717,858 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7156:Caskin1
|
UTSW |
17 |
24,719,657 (GRCm39) |
splice site |
probably null |
|
|
R7385:Caskin1
|
UTSW |
17 |
24,722,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7953:Caskin1
|
UTSW |
17 |
24,723,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7993:Caskin1
|
UTSW |
17 |
24,718,279 (GRCm39) |
nonsense |
probably null |
|
|
R8410:Caskin1
|
UTSW |
17 |
24,721,123 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8511:Caskin1
|
UTSW |
17 |
24,724,910 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8749:Caskin1
|
UTSW |
17 |
24,723,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8881:Caskin1
|
UTSW |
17 |
24,718,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Caskin1
|
UTSW |
17 |
24,717,899 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9005:Caskin1
|
UTSW |
17 |
24,718,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9341:Caskin1
|
UTSW |
17 |
24,723,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Caskin1
|
UTSW |
17 |
24,723,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Caskin1
|
UTSW |
17 |
24,724,140 (GRCm39) |
missense |
probably benign |
0.34 |
|
X0063:Caskin1
|
UTSW |
17 |
24,726,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Caskin1
|
UTSW |
17 |
24,724,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Caskin1
|
UTSW |
17 |
24,715,661 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2012-04-20 |
Incidental Mutation