Incidental Mutation 'IGL01622:Caskin1'
ID |
278659 |
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 # |
IGL01622
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24707575-24727645 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 24722914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000024958
|
SMART Domains |
Protein: ENSMUSP00000024958 Gene: ENSMUSG00000033597
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: ENSMUST00000177024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176805
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
G |
A |
14: 35,532,024 (GRCm39) |
Q184* |
probably null |
Het |
A1bg |
A |
C |
15: 60,789,742 (GRCm39) |
I502S |
possibly damaging |
Het |
Actl11 |
T |
C |
9: 107,805,775 (GRCm39) |
S33P |
probably benign |
Het |
Aftph |
G |
T |
11: 20,659,632 (GRCm39) |
D730E |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,767,773 (GRCm39) |
|
probably benign |
Het |
Brf1 |
T |
G |
12: 112,924,795 (GRCm39) |
E643A |
probably benign |
Het |
Ccnjl |
T |
C |
11: 43,476,154 (GRCm39) |
V259A |
probably benign |
Het |
Ccser2 |
G |
T |
14: 36,662,920 (GRCm39) |
T88K |
probably benign |
Het |
Cdk17 |
T |
C |
10: 93,074,824 (GRCm39) |
|
probably benign |
Het |
Clec16a |
G |
A |
16: 10,395,774 (GRCm39) |
S309N |
possibly damaging |
Het |
Cpxm1 |
C |
A |
2: 130,233,191 (GRCm39) |
A633S |
probably benign |
Het |
Ctnnbl1 |
A |
T |
2: 157,661,468 (GRCm39) |
N326I |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,318,234 (GRCm39) |
V215A |
possibly damaging |
Het |
Daxx |
A |
G |
17: 34,132,454 (GRCm39) |
D528G |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,121,701 (GRCm39) |
Y1427C |
probably damaging |
Het |
Dpy19l3 |
G |
A |
7: 35,422,169 (GRCm39) |
T228I |
probably damaging |
Het |
Fam131c |
C |
T |
4: 141,109,761 (GRCm39) |
A131V |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,482,592 (GRCm39) |
T3061A |
possibly damaging |
Het |
Fgl2 |
T |
A |
5: 21,578,175 (GRCm39) |
L154H |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
Ficd |
G |
A |
5: 113,876,622 (GRCm39) |
G266S |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,340,544 (GRCm39) |
T946A |
probably benign |
Het |
Gan |
T |
A |
8: 117,913,917 (GRCm39) |
V105D |
probably damaging |
Het |
Garin5b |
A |
G |
7: 4,761,722 (GRCm39) |
V330A |
probably benign |
Het |
Gramd1c |
A |
G |
16: 43,811,061 (GRCm39) |
V221A |
probably damaging |
Het |
Hacd1 |
A |
G |
2: 14,040,667 (GRCm39) |
V196A |
probably benign |
Het |
Kcna6 |
C |
A |
6: 126,715,576 (GRCm39) |
V438L |
probably damaging |
Het |
Kif14 |
T |
C |
1: 136,425,094 (GRCm39) |
|
probably benign |
Het |
Klhl41 |
T |
C |
2: 69,508,582 (GRCm39) |
V512A |
probably benign |
Het |
Lrfn1 |
A |
G |
7: 28,166,111 (GRCm39) |
T502A |
probably damaging |
Het |
Notch3 |
A |
T |
17: 32,377,844 (GRCm39) |
F105I |
possibly damaging |
Het |
Or4b13 |
T |
G |
2: 90,082,953 (GRCm39) |
K126N |
probably damaging |
Het |
Or5m10 |
A |
T |
2: 85,717,306 (GRCm39) |
H54L |
probably benign |
Het |
P3h1 |
C |
T |
4: 119,092,480 (GRCm39) |
T171I |
probably damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,399,366 (GRCm39) |
E439G |
possibly damaging |
Het |
Pik3c3 |
A |
T |
18: 30,423,578 (GRCm39) |
K225* |
probably null |
Het |
Pik3c3 |
A |
G |
18: 30,426,102 (GRCm39) |
|
probably benign |
Het |
Pik3r5 |
T |
A |
11: 68,377,452 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
A |
C |
11: 29,098,272 (GRCm39) |
|
probably benign |
Het |
Ppp2r1b |
T |
A |
9: 50,789,422 (GRCm39) |
V495D |
probably damaging |
Het |
Rbfox3 |
C |
A |
11: 118,396,440 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
G |
A |
11: 4,053,966 (GRCm39) |
P234S |
possibly damaging |
Het |
Sec16a |
A |
C |
2: 26,328,915 (GRCm39) |
D1033E |
probably benign |
Het |
Septin14 |
A |
G |
5: 129,763,019 (GRCm39) |
V357A |
probably damaging |
Het |
Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
Snrpa |
A |
T |
7: 26,892,395 (GRCm39) |
M55K |
probably benign |
Het |
Swt1 |
G |
T |
1: 151,286,760 (GRCm39) |
T244N |
probably benign |
Het |
Tbl1xr1 |
A |
G |
3: 22,246,238 (GRCm39) |
T253A |
probably benign |
Het |
Tst |
G |
T |
15: 78,283,964 (GRCm39) |
R288S |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,785,910 (GRCm39) |
I238V |
probably benign |
Het |
Zbtb14 |
A |
G |
17: 69,695,184 (GRCm39) |
K294R |
probably benign |
Het |
Zfp710 |
T |
A |
7: 79,730,871 (GRCm39) |
V16E |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,965,320 (GRCm39) |
T602A |
probably benign |
Het |
Zfr2 |
G |
A |
10: 81,087,193 (GRCm39) |
M850I |
probably benign |
Het |
|
Other mutations in Caskin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00402:Caskin1
|
APN |
17 |
24,722,863 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
2015-04-16 |