Incidental Mutation 'R7993:Caskin1'
| ID |
651903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caskin1
|
| Ensembl Gene |
ENSMUSG00000033597 |
| Gene Name |
CASK interacting protein 1 |
| Synonyms |
3300002N10Rik, C630036E02Rik |
| MMRRC Submission |
046034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R7993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24707575-24727645 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 24718279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 296
(Y296*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
|
| AlphaFold |
Q6P9K8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024958
AA Change: Y296*
|
| SMART Domains |
Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: Y296*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,803,231 (GRCm39) |
V689D |
possibly damaging |
Het |
| Adamts17 |
T |
C |
7: 66,499,612 (GRCm39) |
V53A |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,235,866 (GRCm39) |
N515S |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,542 (GRCm39) |
N183K |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,878 (GRCm39) |
V88A |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,406 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
C |
10: 127,961,491 (GRCm39) |
F1706L |
probably benign |
Het |
| Cacnb2 |
A |
C |
2: 14,968,731 (GRCm39) |
N199T |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,786,206 (GRCm39) |
K290* |
probably null |
Het |
| Cideb |
G |
T |
14: 55,995,899 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,793,097 (GRCm39) |
Y413N |
probably damaging |
Het |
| Csrp1 |
T |
A |
1: 135,674,453 (GRCm39) |
|
probably null |
Het |
| Cyp2j8 |
C |
T |
4: 96,335,456 (GRCm39) |
|
probably null |
Het |
| Dcbld1 |
T |
A |
10: 52,137,884 (GRCm39) |
Y49* |
probably null |
Het |
| Dpep1 |
T |
C |
8: 123,927,460 (GRCm39) |
V338A |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,090,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,888,524 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
C |
T |
4: 99,544,841 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gipc3 |
T |
C |
10: 81,173,805 (GRCm39) |
D269G |
probably damaging |
Het |
| Gm4861 |
G |
A |
3: 137,256,417 (GRCm39) |
T63M |
probably damaging |
Het |
| Hmga1b |
C |
A |
11: 120,653,833 (GRCm39) |
A40E |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,306,264 (GRCm39) |
M3889K |
probably benign |
Het |
| Inhca |
T |
A |
9: 103,140,332 (GRCm39) |
K462N |
probably benign |
Het |
| Klk14 |
T |
A |
7: 43,344,367 (GRCm39) |
M226K |
probably benign |
Het |
| Liph |
T |
G |
16: 21,777,562 (GRCm39) |
M413L |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,348,787 (GRCm39) |
D2636G |
unknown |
Het |
| Lrrk1 |
G |
A |
7: 65,912,202 (GRCm39) |
T1786M |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,135,057 (GRCm39) |
S1958G |
possibly damaging |
Het |
| Msto1 |
A |
G |
3: 88,817,481 (GRCm39) |
F484S |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,308,173 (GRCm39) |
H890Y |
|
Het |
| Nectin3 |
T |
C |
16: 46,279,184 (GRCm39) |
I265V |
probably benign |
Het |
| Nectin4 |
C |
T |
1: 171,211,322 (GRCm39) |
T282I |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,082,134 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
T |
C |
4: 6,398,647 (GRCm39) |
D819G |
probably benign |
Het |
| Or8b8 |
A |
T |
9: 37,808,633 (GRCm39) |
|
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,044 (GRCm39) |
D665V |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,895,262 (GRCm39) |
D616G |
|
Het |
| Plppr2 |
A |
T |
9: 21,858,258 (GRCm39) |
H286L |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,572,085 (GRCm39) |
T1203A |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,777 (GRCm39) |
V180E |
probably damaging |
Het |
| Ppp1r18 |
T |
A |
17: 36,184,718 (GRCm39) |
I551N |
probably benign |
Het |
| Psg28 |
C |
T |
7: 18,160,401 (GRCm39) |
C265Y |
possibly damaging |
Het |
| Psmc1 |
A |
G |
12: 100,081,824 (GRCm39) |
D142G |
probably benign |
Het |
| Rabgap1l |
G |
T |
1: 160,528,424 (GRCm39) |
A394E |
probably damaging |
Het |
| Rbm48 |
G |
A |
5: 3,640,470 (GRCm39) |
P303L |
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,821 (GRCm39) |
V185A |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,999,443 (GRCm39) |
Q1169L |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,277,541 (GRCm39) |
D607G |
probably damaging |
Het |
| Scamp1 |
A |
G |
13: 94,366,294 (GRCm39) |
Y134H |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,492,490 (GRCm39) |
E600K |
probably damaging |
Het |
| Scn3b |
A |
G |
9: 40,193,840 (GRCm39) |
E189G |
possibly damaging |
Het |
| Scn4b |
G |
T |
9: 45,059,007 (GRCm39) |
V93L |
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,407 (GRCm39) |
T15S |
possibly damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,296,356 (GRCm39) |
C319* |
probably null |
Het |
| Tdrd1 |
A |
G |
19: 56,854,437 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
A |
14: 51,067,710 (GRCm39) |
I2169F |
probably benign |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,458 (GRCm39) |
D124G |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,098,026 (GRCm39) |
Y434C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,327,622 (GRCm39) |
S1056T |
|
Het |
| Vmn1r230 |
T |
A |
17: 21,067,312 (GRCm39) |
M167K |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,862 (GRCm39) |
M685L |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,478,047 (GRCm39) |
V3554D |
probably damaging |
Het |
| Zfp1010 |
C |
T |
2: 176,957,015 (GRCm39) |
G161D |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,405,234 (GRCm39) |
S402P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,011,907 (GRCm39) |
A1291E |
probably damaging |
Het |
| Zmat5 |
G |
A |
11: 4,672,379 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
C |
A |
2: 166,897,857 (GRCm39) |
E356* |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,808,291 (GRCm39) |
T292A |
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 |
|
|
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 |
|
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'- GACAGCACTGGACATTGTACAC -3'
(R):5'- CCAAACAAATGGGGTGTGTGC -3'
Sequencing Primer
(F):5'- GCACTGGACATTGTACACCAATTTAC -3'
(R):5'- CTCAGGAAGGGACCTCACCTTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation