Incidental Mutation 'R8881:Caskin1'
| ID |
676948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caskin1
|
| Ensembl Gene |
ENSMUSG00000033597 |
| Gene Name |
CASK interacting protein 1 |
| Synonyms |
3300002N10Rik, C630036E02Rik |
| MMRRC Submission |
068749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8881 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24707575-24727645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24718273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 294
(N294K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
|
| AlphaFold |
Q6P9K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024958
AA Change: N294K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: N294K
| 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 |
|
| Meta Mutation Damage Score |
0.7987 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,074,794 (GRCm39) |
C612Y |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,650 (GRCm39) |
T371A |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,011,279 (GRCm39) |
S661P |
|
Het |
| Anxa11 |
C |
T |
14: 25,874,687 (GRCm39) |
R233C |
probably damaging |
Het |
| Capza3 |
A |
C |
6: 139,987,521 (GRCm39) |
D40A |
probably damaging |
Het |
| Cdh1 |
T |
C |
8: 107,392,904 (GRCm39) |
V796A |
probably benign |
Het |
| Cfap251 |
C |
T |
5: 123,462,438 (GRCm39) |
P1249L |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,119,578 (GRCm39) |
T346S |
possibly damaging |
Het |
| Crisp4 |
A |
T |
1: 18,185,902 (GRCm39) |
V278D |
probably damaging |
Het |
| Ddx60 |
A |
C |
8: 62,474,343 (GRCm39) |
D1477A |
possibly damaging |
Het |
| Dmrtb1 |
T |
C |
4: 107,537,922 (GRCm39) |
D82G |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 118,077,647 (GRCm39) |
N1282S |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 118,090,550 (GRCm39) |
V1104M |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,621,429 (GRCm39) |
E630G |
probably damaging |
Het |
| Dppa4 |
C |
A |
16: 48,108,299 (GRCm39) |
T28K |
|
Het |
| Dusp5 |
T |
A |
19: 53,529,745 (GRCm39) |
S383T |
probably benign |
Het |
| Eef2k |
C |
T |
7: 120,472,548 (GRCm39) |
A87V |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,961 (GRCm39) |
Y828C |
probably damaging |
Het |
| Erbb4 |
A |
C |
1: 68,382,997 (GRCm39) |
|
probably null |
Het |
| Fam151b |
T |
A |
13: 92,604,630 (GRCm39) |
M120L |
probably benign |
Het |
| Fam237b |
A |
C |
5: 5,625,379 (GRCm39) |
D25A |
possibly damaging |
Het |
| Fez2 |
T |
C |
17: 78,689,051 (GRCm39) |
D366G |
probably damaging |
Het |
| Frmd4b |
G |
T |
6: 97,272,735 (GRCm39) |
H886N |
probably benign |
Het |
| Galnt17 |
T |
C |
5: 130,906,635 (GRCm39) |
H511R |
probably benign |
Het |
| Grpel1 |
C |
A |
5: 36,626,816 (GRCm39) |
Q33K |
possibly damaging |
Het |
| Gzmm |
A |
C |
10: 79,530,819 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
A |
1: 150,525,723 (GRCm39) |
L3333F |
probably damaging |
Het |
| Il21r |
A |
T |
7: 125,231,498 (GRCm39) |
T309S |
probably benign |
Het |
| Itgal |
G |
A |
7: 126,929,541 (GRCm39) |
V1153M |
probably benign |
Het |
| Kdf1 |
G |
A |
4: 133,257,654 (GRCm39) |
A390T |
possibly damaging |
Het |
| Lcn11 |
G |
T |
2: 25,669,296 (GRCm39) |
R151L |
probably benign |
Het |
| Lgi3 |
T |
A |
14: 70,770,282 (GRCm39) |
Y116N |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,743,866 (GRCm39) |
H731R |
probably benign |
Het |
| Lrp5 |
A |
T |
19: 3,641,015 (GRCm39) |
S1482T |
probably damaging |
Het |
| Meis2 |
T |
C |
2: 115,889,116 (GRCm39) |
D212G |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,242 (GRCm39) |
C142R |
possibly damaging |
Het |
| Mrgprf |
A |
G |
7: 144,861,999 (GRCm39) |
H187R |
probably benign |
Het |
| Mvd |
A |
G |
8: 123,164,564 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,096,999 (GRCm39) |
I4938M |
possibly damaging |
Het |
| Nipal4 |
A |
T |
11: 46,042,177 (GRCm39) |
M168K |
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,554,920 (GRCm39) |
I1133T |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,684 (GRCm39) |
Y1472H |
probably benign |
Het |
| Or10ak8 |
A |
G |
4: 118,774,571 (GRCm39) |
V31A |
probably benign |
Het |
| Or12j3 |
A |
G |
7: 139,952,698 (GRCm39) |
V275A |
probably benign |
Het |
| Or2y10 |
G |
A |
11: 49,455,209 (GRCm39) |
V154M |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,237,471 (GRCm39) |
D313G |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,213,619 (GRCm39) |
M64V |
possibly damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,384 (GRCm39) |
|
probably benign |
Het |
| Pcdha6 |
G |
T |
18: 37,101,484 (GRCm39) |
V226F |
probably damaging |
Het |
| Pnpla6 |
G |
A |
8: 3,581,489 (GRCm39) |
M605I |
probably benign |
Het |
| Ppp1r13l |
G |
A |
7: 19,105,194 (GRCm39) |
R322H |
probably damaging |
Het |
| Sgtb |
T |
C |
13: 104,258,046 (GRCm39) |
|
probably null |
Het |
| Skint6 |
T |
C |
4: 112,672,716 (GRCm39) |
K1086E |
possibly damaging |
Het |
| Slc4a11 |
T |
C |
2: 130,527,457 (GRCm39) |
E646G |
probably damaging |
Het |
| Speg |
G |
T |
1: 75,377,795 (GRCm39) |
R851L |
possibly damaging |
Het |
| Spns3 |
T |
G |
11: 72,429,912 (GRCm39) |
D172A |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,700,098 (GRCm39) |
V984A |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,223,639 (GRCm39) |
D3080E |
probably damaging |
Het |
| Taf5l |
T |
C |
8: 124,730,101 (GRCm39) |
H196R |
possibly damaging |
Het |
| Tmem229a |
G |
C |
6: 24,955,587 (GRCm39) |
R56G |
probably damaging |
Het |
| Tmprss6 |
A |
C |
15: 78,327,987 (GRCm39) |
*582G |
probably null |
Het |
| Trip13 |
C |
A |
13: 74,077,795 (GRCm39) |
R173L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,661,883 (GRCm39) |
V1055E |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,423,737 (GRCm39) |
I2T |
possibly damaging |
Het |
| V1rd19 |
T |
A |
7: 23,703,081 (GRCm39) |
S182R |
possibly damaging |
Het |
| Vmn2r58 |
C |
A |
7: 41,486,609 (GRCm39) |
G762V |
probably benign |
Het |
| Zfp874b |
T |
C |
13: 67,622,141 (GRCm39) |
K386E |
probably damaging |
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 |
|
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 |
|
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'- TTTACAACGTCCCAGGCCAG -3'
(R):5'- CATCTGGATGCTGTTCAAGTACC -3'
Sequencing Primer
(F):5'- CCAGGCCAGCAAGGAGATC -3'
(R):5'- GGATGCTGTTCAAGTACCTGACC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation