Incidental Mutation 'R4552:Caskin1'
ID |
334035 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Caskin1
|
Ensembl Gene |
ENSMUSG00000033597 |
Gene Name |
CASK interacting protein 1 |
Synonyms |
3300002N10Rik, C630036E02Rik |
MMRRC Submission |
041783-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R4552 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24707575-24727645 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24725602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 1296
(S1296N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
[ENSMUST00000070777]
[ENSMUST00000088464]
[ENSMUST00000176086]
[ENSMUST00000176353]
[ENSMUST00000176668]
[ENSMUST00000176652]
|
AlphaFold |
Q6P9K8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024958
AA Change: S1296N
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000024958 Gene: ENSMUSG00000033597 AA Change: S1296N
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: ENSMUST00000175698
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175732
|
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 |
noncoding transcript
Transcript: ENSMUST00000176900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176805
|
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 |
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 |
|
Meta Mutation Damage Score |
0.0600 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
97% (62/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Arhgap33 |
A |
T |
7: 30,218,533 (GRCm39) |
|
probably benign |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
Camta1 |
T |
C |
4: 151,876,959 (GRCm39) |
R79G |
probably damaging |
Het |
Cep128 |
T |
C |
12: 91,260,936 (GRCm39) |
E309G |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,071,789 (GRCm39) |
T100A |
probably benign |
Het |
Dalrd3 |
A |
G |
9: 108,449,429 (GRCm39) |
D454G |
possibly damaging |
Het |
Ddx19a |
G |
A |
8: 111,705,198 (GRCm39) |
Q308* |
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,359,047 (GRCm39) |
N395S |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,943,769 (GRCm39) |
D3125G |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,397,300 (GRCm39) |
V3331A |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
Dner |
T |
C |
1: 84,361,578 (GRCm39) |
Y677C |
probably damaging |
Het |
Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
Hid1 |
G |
A |
11: 115,249,505 (GRCm39) |
T240M |
possibly damaging |
Het |
Igbp1b |
T |
A |
6: 138,635,112 (GRCm39) |
M111L |
probably benign |
Het |
Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
Klk4 |
C |
A |
7: 43,533,443 (GRCm39) |
H101N |
probably benign |
Het |
Mrgpra2b |
C |
A |
7: 47,113,754 (GRCm39) |
S300I |
probably benign |
Het |
Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,385,938 (GRCm39) |
|
probably null |
Het |
Nif3l1 |
C |
T |
1: 58,488,483 (GRCm39) |
|
probably benign |
Het |
Noct |
T |
A |
3: 51,157,589 (GRCm39) |
I309N |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Odf2l |
A |
T |
3: 144,856,844 (GRCm39) |
T600S |
probably benign |
Het |
Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
Or1m1 |
A |
G |
9: 18,666,430 (GRCm39) |
V167A |
possibly damaging |
Het |
Or2y1e |
A |
T |
11: 49,218,777 (GRCm39) |
M180L |
probably benign |
Het |
Or6c217 |
T |
C |
10: 129,737,992 (GRCm39) |
M196V |
probably benign |
Het |
Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,719,285 (GRCm39) |
S1141P |
unknown |
Het |
Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
Ppargc1a |
C |
T |
5: 51,620,557 (GRCm39) |
|
probably benign |
Het |
Ptchd4 |
A |
T |
17: 42,813,346 (GRCm39) |
I416L |
probably benign |
Het |
Rhpn1 |
G |
A |
15: 75,585,968 (GRCm39) |
R627H |
probably benign |
Het |
Ric8a |
G |
A |
7: 140,441,250 (GRCm39) |
G182S |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,443,718 (GRCm39) |
D895G |
probably damaging |
Het |
Rrp1b |
G |
A |
17: 32,274,984 (GRCm39) |
|
probably benign |
Het |
Rtf1 |
T |
A |
2: 119,561,210 (GRCm39) |
D636E |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,354,523 (GRCm39) |
D333G |
probably benign |
Het |
Sema6a |
A |
G |
18: 47,424,990 (GRCm39) |
L207P |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,799,779 (GRCm39) |
Y160* |
probably null |
Het |
Slc27a1 |
A |
T |
8: 72,032,710 (GRCm39) |
|
probably null |
Het |
Ston2 |
C |
T |
12: 91,608,646 (GRCm39) |
R818Q |
probably damaging |
Het |
Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
Tjap1 |
A |
T |
17: 46,570,953 (GRCm39) |
|
probably null |
Het |
Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,223,667 (GRCm39) |
D64G |
possibly damaging |
Het |
Vmn2r73 |
T |
A |
7: 85,525,055 (GRCm39) |
D31V |
probably benign |
Het |
Vmn2r-ps41 |
A |
T |
7: 9,180,063 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTTAGATGGAGGGAACAC -3'
(R):5'- CAAACACGCGCTAGTCTCTTC -3'
Sequencing Primer
(F):5'- CACAGTGAGTGGTAGGTGTG -3'
(R):5'- CACAATCTGAAGCTACTGGGGGTC -3'
|
Posted On |
2015-08-18 |