Incidental Mutation 'R0828:Camsap1'
ID |
78359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camsap1
|
Ensembl Gene |
ENSMUSG00000026933 |
Gene Name |
calmodulin regulated spectrin-associated protein 1 |
Synonyms |
9530003A05Rik, PRO2405 |
MMRRC Submission |
039008-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R0828 (G1)
|
Quality Score |
221 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25816850-25873294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 25829097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 876
(Q876K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091268]
[ENSMUST00000114167]
[ENSMUST00000134882]
[ENSMUST00000183461]
|
AlphaFold |
A2AHC3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091268
AA Change: Q876K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000088812 Gene: ENSMUSG00000026933 AA Change: Q876K
Domain | Start | End | E-Value | Type |
Pfam:CAMSAP_CH
|
228 |
311 |
3.3e-35 |
PFAM |
low complexity region
|
732 |
747 |
N/A |
INTRINSIC |
low complexity region
|
792 |
807 |
N/A |
INTRINSIC |
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
Pfam:CAMSAP_CC1
|
859 |
917 |
3.8e-29 |
PFAM |
coiled coil region
|
1010 |
1037 |
N/A |
INTRINSIC |
coiled coil region
|
1267 |
1336 |
N/A |
INTRINSIC |
low complexity region
|
1341 |
1353 |
N/A |
INTRINSIC |
low complexity region
|
1373 |
1390 |
N/A |
INTRINSIC |
low complexity region
|
1429 |
1439 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1442 |
1570 |
3.6e-85 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114167
AA Change: Q876K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109804 Gene: ENSMUSG00000026933 AA Change: Q876K
Domain | Start | End | E-Value | Type |
Pfam:CH
|
185 |
330 |
5.4e-34 |
PFAM |
Pfam:CAMSAP_CH
|
228 |
311 |
2.3e-34 |
PFAM |
low complexity region
|
732 |
747 |
N/A |
INTRINSIC |
low complexity region
|
792 |
807 |
N/A |
INTRINSIC |
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
coiled coil region
|
869 |
905 |
N/A |
INTRINSIC |
coiled coil region
|
1010 |
1037 |
N/A |
INTRINSIC |
coiled coil region
|
1267 |
1336 |
N/A |
INTRINSIC |
low complexity region
|
1341 |
1353 |
N/A |
INTRINSIC |
low complexity region
|
1373 |
1390 |
N/A |
INTRINSIC |
low complexity region
|
1429 |
1439 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1442 |
1570 |
3.6e-85 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134882
AA Change: Q896K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117203 Gene: ENSMUSG00000026933 AA Change: Q896K
Domain | Start | End | E-Value | Type |
Pfam:CH
|
185 |
350 |
1.3e-33 |
PFAM |
Pfam:CAMSAP_CH
|
248 |
331 |
2.6e-34 |
PFAM |
low complexity region
|
752 |
767 |
N/A |
INTRINSIC |
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
low complexity region
|
846 |
857 |
N/A |
INTRINSIC |
coiled coil region
|
889 |
925 |
N/A |
INTRINSIC |
coiled coil region
|
1030 |
1057 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148146
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183461
AA Change: Q876K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139028 Gene: ENSMUSG00000026933 AA Change: Q876K
Domain | Start | End | E-Value | Type |
Pfam:CH
|
185 |
330 |
5.4e-34 |
PFAM |
Pfam:CAMSAP_CH
|
228 |
311 |
2.3e-34 |
PFAM |
low complexity region
|
732 |
747 |
N/A |
INTRINSIC |
low complexity region
|
792 |
807 |
N/A |
INTRINSIC |
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
coiled coil region
|
869 |
905 |
N/A |
INTRINSIC |
coiled coil region
|
1010 |
1037 |
N/A |
INTRINSIC |
coiled coil region
|
1267 |
1336 |
N/A |
INTRINSIC |
low complexity region
|
1341 |
1353 |
N/A |
INTRINSIC |
low complexity region
|
1373 |
1390 |
N/A |
INTRINSIC |
low complexity region
|
1429 |
1439 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1442 |
1570 |
3.6e-85 |
SMART |
|
Meta Mutation Damage Score |
0.1573 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730522E02Rik |
C |
T |
11: 25,602,020 (GRCm39) |
C70Y |
unknown |
Het |
Abi3bp |
C |
T |
16: 56,498,193 (GRCm39) |
T929I |
probably damaging |
Het |
Adap2 |
C |
A |
11: 80,056,490 (GRCm39) |
|
probably benign |
Het |
Adgrg5 |
A |
G |
8: 95,668,413 (GRCm39) |
|
probably null |
Het |
Afdn |
C |
A |
17: 14,124,260 (GRCm39) |
N1803K |
probably damaging |
Het |
Alox12b |
T |
C |
11: 69,057,132 (GRCm39) |
L451P |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,510,434 (GRCm39) |
|
probably benign |
Het |
Bcr |
A |
T |
10: 74,993,039 (GRCm39) |
|
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,734,347 (GRCm39) |
N300D |
probably benign |
Het |
Cdh10 |
A |
G |
15: 18,986,837 (GRCm39) |
D356G |
possibly damaging |
Het |
Cdipt |
T |
A |
7: 126,576,092 (GRCm39) |
Y16N |
probably damaging |
Het |
Cebpz |
T |
C |
17: 79,233,411 (GRCm39) |
E772G |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,828,992 (GRCm39) |
I304T |
probably benign |
Het |
Chpt1 |
C |
A |
10: 88,312,277 (GRCm39) |
G9V |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,739,263 (GRCm39) |
|
probably null |
Het |
Dock7 |
G |
T |
4: 98,903,982 (GRCm39) |
P688T |
probably damaging |
Het |
Ephb3 |
T |
A |
16: 21,037,784 (GRCm39) |
|
probably benign |
Het |
Fcgr2b |
T |
C |
1: 170,788,599 (GRCm39) |
Y336C |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,110,639 (GRCm39) |
H889L |
unknown |
Het |
Gucy2c |
C |
T |
6: 136,686,746 (GRCm39) |
V806M |
probably damaging |
Het |
Hmgxb3 |
T |
A |
18: 61,304,426 (GRCm39) |
I55F |
probably damaging |
Het |
Igsf9b |
T |
A |
9: 27,230,901 (GRCm39) |
Y301* |
probably null |
Het |
Il12rb2 |
C |
T |
6: 67,333,691 (GRCm39) |
R196H |
probably benign |
Het |
Itgam |
T |
C |
7: 127,715,677 (GRCm39) |
|
probably null |
Het |
Klhl25 |
T |
C |
7: 75,515,943 (GRCm39) |
V283A |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,320,135 (GRCm39) |
L423P |
probably damaging |
Het |
Krt6a |
T |
C |
15: 101,602,271 (GRCm39) |
N138S |
probably damaging |
Het |
Lrba |
A |
T |
3: 86,515,677 (GRCm39) |
|
probably null |
Het |
Map4k5 |
T |
C |
12: 69,852,100 (GRCm39) |
T828A |
probably damaging |
Het |
Marchf8 |
T |
A |
6: 116,382,639 (GRCm39) |
M434K |
probably benign |
Het |
Mink1 |
C |
T |
11: 70,500,971 (GRCm39) |
Q743* |
probably null |
Het |
Mrgpra3 |
T |
C |
7: 47,239,884 (GRCm39) |
N14S |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,557,073 (GRCm39) |
S808G |
probably damaging |
Het |
Msi1 |
T |
C |
5: 115,568,953 (GRCm39) |
|
probably null |
Het |
Nrap |
A |
G |
19: 56,333,990 (GRCm39) |
Y874H |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,171,501 (GRCm39) |
F455L |
probably benign |
Het |
Or2t1 |
G |
T |
14: 14,328,800 (GRCm38) |
V230L |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,613,466 (GRCm39) |
V894A |
probably damaging |
Het |
Polr1c |
A |
G |
17: 46,555,990 (GRCm39) |
S173P |
probably damaging |
Het |
Pphln1-ps1 |
A |
G |
16: 13,495,669 (GRCm39) |
Y256C |
probably damaging |
Het |
Prep |
C |
T |
10: 45,031,621 (GRCm39) |
A564V |
probably benign |
Het |
Rab3gap1 |
T |
C |
1: 127,865,922 (GRCm39) |
|
probably benign |
Het |
Rcc1 |
G |
C |
4: 132,063,136 (GRCm39) |
|
probably benign |
Het |
Scn11a |
T |
A |
9: 119,584,073 (GRCm39) |
D1514V |
probably benign |
Het |
Setdb1 |
G |
A |
3: 95,246,171 (GRCm39) |
P584S |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,936,771 (GRCm39) |
I144V |
probably benign |
Het |
Slc45a4 |
T |
C |
15: 73,458,665 (GRCm39) |
M295V |
probably benign |
Het |
Slco1a1 |
T |
A |
6: 141,867,565 (GRCm39) |
D456V |
possibly damaging |
Het |
Sspo |
G |
T |
6: 48,475,668 (GRCm39) |
C4928F |
probably damaging |
Het |
St6galnac1 |
T |
A |
11: 116,659,823 (GRCm39) |
K163N |
probably benign |
Het |
Tcp11l1 |
A |
T |
2: 104,530,181 (GRCm39) |
|
probably benign |
Het |
Tns1 |
T |
A |
1: 73,958,825 (GRCm39) |
I1715F |
probably damaging |
Het |
Trpa1 |
C |
T |
1: 14,946,108 (GRCm39) |
V1008M |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,371,312 (GRCm39) |
E587G |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,177,864 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp8 |
G |
A |
2: 126,584,034 (GRCm39) |
|
probably benign |
Het |
Zfc3h1 |
G |
T |
10: 115,237,612 (GRCm39) |
A464S |
possibly damaging |
Het |
Zfp106 |
T |
C |
2: 120,366,084 (GRCm39) |
I108V |
probably benign |
Het |
|
Other mutations in Camsap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01324:Camsap1
|
APN |
2 |
25,823,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01555:Camsap1
|
APN |
2 |
25,829,405 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01667:Camsap1
|
APN |
2 |
25,835,293 (GRCm39) |
splice site |
probably benign |
|
IGL02167:Camsap1
|
APN |
2 |
25,824,312 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02191:Camsap1
|
APN |
2 |
25,819,892 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02285:Camsap1
|
APN |
2 |
25,819,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02393:Camsap1
|
APN |
2 |
25,828,334 (GRCm39) |
missense |
probably benign |
0.10 |
3-1:Camsap1
|
UTSW |
2 |
25,835,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Camsap1
|
UTSW |
2 |
25,823,659 (GRCm39) |
missense |
probably damaging |
0.98 |
R1434:Camsap1
|
UTSW |
2 |
25,835,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Camsap1
|
UTSW |
2 |
25,829,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R2027:Camsap1
|
UTSW |
2 |
25,828,538 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2048:Camsap1
|
UTSW |
2 |
25,819,755 (GRCm39) |
missense |
probably benign |
0.00 |
R3732:Camsap1
|
UTSW |
2 |
25,828,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4437:Camsap1
|
UTSW |
2 |
25,828,658 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4494:Camsap1
|
UTSW |
2 |
25,842,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R4888:Camsap1
|
UTSW |
2 |
25,825,562 (GRCm39) |
missense |
probably benign |
0.03 |
R5028:Camsap1
|
UTSW |
2 |
25,834,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R5058:Camsap1
|
UTSW |
2 |
25,829,375 (GRCm39) |
missense |
probably benign |
0.01 |
R5105:Camsap1
|
UTSW |
2 |
25,830,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R5121:Camsap1
|
UTSW |
2 |
25,825,562 (GRCm39) |
missense |
probably benign |
0.03 |
R5153:Camsap1
|
UTSW |
2 |
25,823,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R5323:Camsap1
|
UTSW |
2 |
25,855,823 (GRCm39) |
missense |
probably damaging |
0.98 |
R6043:Camsap1
|
UTSW |
2 |
25,819,937 (GRCm39) |
missense |
probably benign |
0.00 |
R6479:Camsap1
|
UTSW |
2 |
25,825,874 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6502:Camsap1
|
UTSW |
2 |
25,846,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R6571:Camsap1
|
UTSW |
2 |
25,829,512 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7046:Camsap1
|
UTSW |
2 |
25,835,201 (GRCm39) |
missense |
probably damaging |
0.99 |
R7251:Camsap1
|
UTSW |
2 |
25,828,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R8026:Camsap1
|
UTSW |
2 |
25,828,214 (GRCm39) |
missense |
probably benign |
0.17 |
R8133:Camsap1
|
UTSW |
2 |
25,824,309 (GRCm39) |
missense |
probably damaging |
0.99 |
R8152:Camsap1
|
UTSW |
2 |
25,830,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R8158:Camsap1
|
UTSW |
2 |
25,834,440 (GRCm39) |
nonsense |
probably null |
|
R8325:Camsap1
|
UTSW |
2 |
25,829,375 (GRCm39) |
missense |
probably benign |
0.01 |
R8339:Camsap1
|
UTSW |
2 |
25,872,817 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9187:Camsap1
|
UTSW |
2 |
25,820,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R9379:Camsap1
|
UTSW |
2 |
25,846,318 (GRCm39) |
missense |
|
|
R9419:Camsap1
|
UTSW |
2 |
25,845,304 (GRCm39) |
missense |
|
|
R9525:Camsap1
|
UTSW |
2 |
25,843,962 (GRCm39) |
missense |
probably benign |
|
R9526:Camsap1
|
UTSW |
2 |
25,843,962 (GRCm39) |
missense |
probably benign |
|
R9776:Camsap1
|
UTSW |
2 |
25,828,166 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Camsap1
|
UTSW |
2 |
25,830,893 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Camsap1
|
UTSW |
2 |
25,826,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTCTCTCCATCATGCAGAGCAG -3'
(R):5'- ACTTCTCAGCTCAGCAGCATGTC -3'
Sequencing Primer
(F):5'- GCTTATGTAGCTGGACAAATGCC -3'
(R):5'- CTTTGCTGAAAGGAAGCTCC -3'
|
Posted On |
2013-10-16 |