Incidental Mutation 'R4419:Caskin1'
| ID |
327024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caskin1
|
| Ensembl Gene |
ENSMUSG00000033597 |
| Gene Name |
CASK interacting protein 1 |
| Synonyms |
3300002N10Rik, C630036E02Rik |
| MMRRC Submission |
041140-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24707575-24727645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24723683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 824
(S824P)
|
| 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: S824P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: S824P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amdhd2 |
G |
A |
17: 24,377,652 (GRCm39) |
P126L |
probably benign |
Het |
| Arfip2 |
T |
C |
7: 105,288,270 (GRCm39) |
T44A |
probably damaging |
Het |
| B4galt1 |
A |
G |
4: 40,853,537 (GRCm39) |
V90A |
probably benign |
Het |
| Bad |
C |
A |
19: 6,928,053 (GRCm39) |
A115E |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,782,804 (GRCm39) |
L521P |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,867,621 (GRCm39) |
D76E |
possibly damaging |
Het |
| Celsr3 |
G |
T |
9: 108,720,443 (GRCm39) |
A2572S |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,567,707 (GRCm39) |
Q2152R |
probably damaging |
Het |
| D2hgdh |
T |
A |
1: 93,757,535 (GRCm39) |
V150E |
probably damaging |
Het |
| Ddn |
C |
A |
15: 98,703,492 (GRCm39) |
W600L |
probably benign |
Het |
| Dicer1 |
A |
T |
12: 104,671,373 (GRCm39) |
Y966N |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,379,108 (GRCm39) |
I1352N |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,184,224 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
T |
C |
2: 165,153,675 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
| Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Ky |
G |
A |
9: 102,419,909 (GRCm39) |
V639I |
probably damaging |
Het |
| Med16 |
G |
A |
10: 79,734,216 (GRCm39) |
A566V |
probably benign |
Het |
| Mettl17 |
G |
T |
14: 52,124,729 (GRCm39) |
G167C |
possibly damaging |
Het |
| Mgat4b |
T |
C |
11: 50,123,813 (GRCm39) |
F318L |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,056,589 (GRCm39) |
A1178D |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,926,706 (GRCm39) |
D51G |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,297,133 (GRCm39) |
N968D |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,917,021 (GRCm39) |
H820R |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
| Or10ak7 |
A |
T |
4: 118,791,586 (GRCm39) |
I153N |
possibly damaging |
Het |
| Or6c68 |
T |
C |
10: 129,157,684 (GRCm39) |
F64S |
possibly damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,365 (GRCm39) |
V108I |
probably benign |
Het |
| Ppargc1a |
T |
C |
5: 51,652,044 (GRCm39) |
D218G |
probably damaging |
Het |
| Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
| Scn3a |
C |
A |
2: 65,297,304 (GRCm39) |
G1452C |
probably damaging |
Het |
| Slc22a2 |
C |
A |
17: 12,831,473 (GRCm39) |
S421* |
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,849,226 (GRCm39) |
F797L |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,074,990 (GRCm39) |
Y2405* |
probably null |
Het |
| Ss18 |
A |
G |
18: 14,766,662 (GRCm39) |
Y359H |
unknown |
Het |
| St14 |
C |
T |
9: 31,008,224 (GRCm39) |
C537Y |
probably damaging |
Het |
| Tmem252 |
T |
A |
19: 24,654,910 (GRCm39) |
Y96N |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,396 (GRCm39) |
D474G |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,316,559 (GRCm39) |
I20M |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,629 (GRCm39) |
S286P |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCTGCTGGATGAGGGGATG -3'
(R):5'- ATAGCGATTCAAGCTGTGGG -3'
Sequencing Primer
(F):5'- ATGGCCACAGCGTCAAG -3'
(R):5'- CAAGCTGTGGGCACGTTTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation