Incidental Mutation 'R4108:Caskin1'
| ID |
321502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caskin1
|
| Ensembl Gene |
ENSMUSG00000033597 |
| Gene Name |
CASK interacting protein 1 |
| Synonyms |
3300002N10Rik, C630036E02Rik |
| MMRRC Submission |
040987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24707575-24727645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24721121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 487
(T487K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
|
| AlphaFold |
Q6P9K8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024958
AA Change: T487K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: T487K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,061,796 (GRCm39) |
Y82C |
probably damaging |
Het |
| 4930579F01Rik |
T |
C |
3: 137,889,431 (GRCm39) |
N62S |
probably benign |
Het |
| Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
| Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,446,640 (GRCm39) |
|
probably null |
Het |
| Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
| Ccr7 |
C |
T |
11: 99,036,204 (GRCm39) |
M239I |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,246,601 (GRCm39) |
V944L |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,416,065 (GRCm39) |
S87P |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,737,304 (GRCm39) |
D1461V |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
A |
T |
7: 107,353,136 (GRCm39) |
M102K |
probably damaging |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Dnajb2 |
G |
T |
1: 75,213,543 (GRCm39) |
E6* |
probably null |
Het |
| Dtx4 |
G |
A |
19: 12,478,487 (GRCm39) |
A32V |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Eml6 |
A |
C |
11: 29,755,136 (GRCm39) |
S880A |
probably damaging |
Het |
| Fsd2 |
C |
T |
7: 81,194,715 (GRCm39) |
V483I |
probably benign |
Het |
| Inf2 |
T |
C |
12: 112,574,015 (GRCm39) |
L773P |
unknown |
Het |
| Kif26b |
A |
G |
1: 178,744,530 (GRCm39) |
Q1095R |
possibly damaging |
Het |
| Leprotl1 |
A |
G |
8: 34,607,913 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
G |
2: 40,555,099 (GRCm39) |
V340A |
unknown |
Het |
| Myh1 |
T |
C |
11: 67,102,403 (GRCm39) |
V898A |
probably benign |
Het |
| Ncstn |
G |
T |
1: 171,900,111 (GRCm39) |
N254K |
probably damaging |
Het |
| Nfatc1 |
T |
A |
18: 80,741,583 (GRCm39) |
H139L |
possibly damaging |
Het |
| Nfe2l1 |
C |
T |
11: 96,710,220 (GRCm39) |
|
probably null |
Het |
| Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2b6 |
A |
G |
13: 21,822,952 (GRCm39) |
V247A |
probably damaging |
Het |
| Or7g26 |
T |
A |
9: 19,230,608 (GRCm39) |
Y265* |
probably null |
Het |
| Otogl |
C |
T |
10: 107,607,105 (GRCm39) |
V2093I |
probably benign |
Het |
| Phc2 |
A |
G |
4: 128,601,776 (GRCm39) |
Y77C |
probably damaging |
Het |
| Pik3c2g |
C |
A |
6: 139,676,096 (GRCm39) |
A80E |
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,936,276 (GRCm39) |
H1675N |
probably damaging |
Het |
| Pou4f3 |
A |
G |
18: 42,528,987 (GRCm39) |
K310R |
probably damaging |
Het |
| Ppp1r12c |
T |
C |
7: 4,489,565 (GRCm39) |
D199G |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,212,847 (GRCm39) |
Y297H |
probably benign |
Het |
| Psmb7 |
T |
A |
2: 38,532,211 (GRCm39) |
H78L |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,508,396 (GRCm39) |
C773R |
probably damaging |
Het |
| Rpl12 |
A |
T |
2: 32,851,836 (GRCm39) |
N8Y |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,172,788 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,398,374 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
G |
A |
5: 53,221,351 (GRCm39) |
V266I |
possibly damaging |
Het |
| Smtn |
G |
A |
11: 3,476,449 (GRCm39) |
T144I |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,002,122 (GRCm39) |
N84S |
probably benign |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,400,188 (GRCm39) |
E985G |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,384,637 (GRCm39) |
H39Q |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Tsg101 |
T |
A |
7: 46,542,242 (GRCm39) |
D99V |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
probably benign |
Het |
| Ubald1 |
C |
A |
16: 4,693,731 (GRCm39) |
M61I |
probably benign |
Het |
| Ush1c |
C |
T |
7: 45,847,869 (GRCm39) |
D465N |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vps54 |
A |
G |
11: 21,262,877 (GRCm39) |
I655V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCACTGAAGAAGCCTGGAG -3'
(R):5'- CTGTGAGGTCCTAGGCAAAGAG -3'
Sequencing Primer
(F):5'- TGCTGTATCCAGGATGACAGATC -3'
(R):5'- AGAGGAGGCCCGTTAACTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation