Incidental Mutation 'R5841:Caskin1'
| ID |
450468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caskin1
|
| Ensembl Gene |
ENSMUSG00000033597 |
| Gene Name |
CASK interacting protein 1 |
| Synonyms |
3300002N10Rik, C630036E02Rik |
| MMRRC Submission |
044061-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R5841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24707575-24727645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24715183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 79
(D79G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
|
| AlphaFold |
Q6P9K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024958
AA Change: D79G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: D79G
| 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 |
0.8459 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
T |
1: 75,150,994 (GRCm39) |
F565L |
possibly damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,596 (GRCm38) |
V188D |
probably benign |
Het |
| Bbs12 |
T |
G |
3: 37,373,670 (GRCm39) |
N39K |
probably benign |
Het |
| Bend5 |
A |
G |
4: 111,290,667 (GRCm39) |
Y221C |
probably damaging |
Het |
| Brd8 |
A |
G |
18: 34,738,576 (GRCm39) |
S683P |
probably damaging |
Het |
| Cdyl |
T |
C |
13: 36,056,544 (GRCm39) |
L509P |
probably damaging |
Het |
| Cenpf |
G |
T |
1: 189,389,641 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,027 (GRCm39) |
M1479K |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,951,497 (GRCm39) |
S145P |
probably damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,183,899 (GRCm39) |
H235L |
probably benign |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,670 (GRCm39) |
F181Y |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,946,253 (GRCm39) |
T453A |
probably benign |
Het |
| Dlgap3 |
A |
G |
4: 127,089,193 (GRCm39) |
D263G |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
G |
A |
17: 84,940,990 (GRCm39) |
G69R |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,651,885 (GRCm39) |
V331A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ganc |
C |
T |
2: 120,242,020 (GRCm39) |
T66I |
possibly damaging |
Het |
| Gm11595 |
C |
A |
11: 99,663,143 (GRCm39) |
C179F |
unknown |
Het |
| Gnptg |
A |
G |
17: 25,454,391 (GRCm39) |
S159P |
probably damaging |
Het |
| Gsdmc2 |
C |
T |
15: 63,698,059 (GRCm39) |
V349I |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,259,846 (GRCm39) |
I2606T |
possibly damaging |
Het |
| Ino80d |
A |
G |
1: 63,097,999 (GRCm39) |
S632P |
probably damaging |
Het |
| Kcnn2 |
G |
A |
18: 45,692,463 (GRCm39) |
R13H |
probably benign |
Het |
| Klb |
A |
T |
5: 65,536,667 (GRCm39) |
K666* |
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Kpna7 |
T |
C |
5: 144,930,766 (GRCm39) |
I360V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,657 (GRCm39) |
K576E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,310,497 (GRCm39) |
Y2692F |
probably benign |
Het |
| Meis2 |
T |
A |
2: 115,889,145 (GRCm39) |
E202D |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,224,826 (GRCm39) |
T347S |
probably damaging |
Het |
| Mmp12 |
G |
A |
9: 7,347,501 (GRCm39) |
C26Y |
possibly damaging |
Het |
| Mrpl24 |
G |
A |
3: 87,830,292 (GRCm39) |
R145Q |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,396,436 (GRCm39) |
R135W |
probably damaging |
Het |
| Myo1g |
T |
A |
11: 6,457,000 (GRCm39) |
Y942F |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,200,911 (GRCm39) |
K52R |
probably null |
Het |
| Ncf2 |
A |
T |
1: 152,697,269 (GRCm39) |
|
silent |
Het |
| Nherf2 |
A |
T |
17: 24,863,851 (GRCm39) |
M8K |
probably benign |
Het |
| Or51f1e |
T |
C |
7: 102,747,161 (GRCm39) |
F71S |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,948,594 (GRCm39) |
|
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,965,429 (GRCm39) |
V532D |
possibly damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,383,096 (GRCm39) |
L305P |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,898 (GRCm39) |
R324* |
probably null |
Het |
| Polr3a |
A |
T |
14: 24,500,766 (GRCm39) |
C1341S |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,983 (GRCm39) |
T644A |
probably benign |
Het |
| Pramel22 |
A |
G |
4: 143,382,109 (GRCm39) |
S196P |
possibly damaging |
Het |
| Ptbp1 |
A |
G |
10: 79,695,766 (GRCm39) |
D289G |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,007,952 (GRCm39) |
F868L |
probably benign |
Het |
| Rgs8 |
A |
G |
1: 153,568,574 (GRCm39) |
E153G |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,493,180 (GRCm39) |
|
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,192,271 (GRCm39) |
H78R |
probably damaging |
Het |
| Sdr16c6 |
C |
T |
4: 4,062,728 (GRCm39) |
A197T |
possibly damaging |
Het |
| Slc36a3 |
A |
T |
11: 55,016,547 (GRCm39) |
Y349* |
probably null |
Het |
| Slc38a9 |
T |
C |
13: 112,831,856 (GRCm39) |
L202P |
possibly damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,951,509 (GRCm39) |
M216K |
probably damaging |
Het |
| Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
| Srp54b |
A |
G |
12: 55,299,614 (GRCm39) |
N315S |
probably benign |
Het |
| Strc |
A |
G |
2: 121,196,358 (GRCm39) |
F1557L |
probably benign |
Het |
| Susd3 |
C |
A |
13: 49,392,202 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
G |
A |
14: 20,600,351 (GRCm39) |
T1462I |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,787 (GRCm39) |
N150K |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,231,958 (GRCm39) |
H606Y |
probably benign |
Het |
| Zmym6 |
A |
G |
4: 126,994,463 (GRCm39) |
I206V |
possibly 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 |
|
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'- ATGTCAACTTCCAGGACCCG -3'
(R):5'- GGAAACTAAGTCCTGACCCTAAATC -3'
Sequencing Primer
(F):5'- AACTTCCAGGACCCGGATGG -3'
(R):5'- TAAGTCCTGACCCTAAATCCAACC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation