Incidental Mutation 'IGL02095:Camsap3'
| ID |
279563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Camsap3
|
| Ensembl Gene |
ENSMUSG00000044433 |
| Gene Name |
calmodulin regulated spectrin-associated protein family, member 3 |
| Synonyms |
Nezha, 2310057J16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
IGL02095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
3637293-3659075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3653845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 494
(D494G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057028]
[ENSMUST00000171962]
[ENSMUST00000207077]
[ENSMUST00000207432]
[ENSMUST00000207533]
[ENSMUST00000207970]
[ENSMUST00000208240]
[ENSMUST00000208036]
[ENSMUST00000207712]
|
| AlphaFold |
Q80VC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057028
AA Change: D478G
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: D478G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
|
Pfam:CH
|
166 |
315 |
5.5e-27 |
PFAM |
|
Pfam:CAMSAP_CH
|
214 |
296 |
1.2e-29 |
PFAM |
|
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
|
coiled coil region
|
595 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
655 |
N/A |
INTRINSIC |
|
coiled coil region
|
696 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
881 |
N/A |
INTRINSIC |
|
coiled coil region
|
900 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1024 |
N/A |
INTRINSIC |
|
CAMSAP_CKK
|
1111 |
1240 |
1.29e-86 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163038
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171962
AA Change: D479G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: D479G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
109 |
N/A |
INTRINSIC |
|
Pfam:CAMSAP_CH
|
214 |
296 |
6e-31 |
PFAM |
|
low complexity region
|
360 |
374 |
N/A |
INTRINSIC |
|
Pfam:CAMSAP_CC1
|
587 |
645 |
1.1e-27 |
PFAM |
|
low complexity region
|
646 |
656 |
N/A |
INTRINSIC |
|
coiled coil region
|
697 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
882 |
N/A |
INTRINSIC |
|
coiled coil region
|
901 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1025 |
N/A |
INTRINSIC |
|
CAMSAP_CKK
|
1112 |
1241 |
1.29e-86 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207077
AA Change: D494G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207152
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207432
AA Change: D505G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207533
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207970
AA Change: D489G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208036
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207930
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display variable penetrance of vascular, liver, nervous system, rib and eye abnormalities. Mice homozygous for an allele with loss of microtubule binding show partial lethality, decreased body size and abnormal alignment of microtubles in polarized epithelial cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,583 (GRCm39) |
Q794L |
probably benign |
Het |
| Acrbp |
C |
A |
6: 125,030,919 (GRCm39) |
Y313* |
probably null |
Het |
| Adam9 |
A |
G |
8: 25,486,745 (GRCm39) |
S178P |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,909 (GRCm39) |
I244V |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 79,985,533 (GRCm39) |
S207G |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,457,141 (GRCm39) |
D880G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,309 (GRCm39) |
I573T |
probably benign |
Het |
| Cbfa2t3 |
T |
C |
8: 123,360,232 (GRCm39) |
E438G |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,980 (GRCm39) |
D37G |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,699,157 (GRCm39) |
E36G |
possibly damaging |
Het |
| Ddx54 |
G |
A |
5: 120,761,856 (GRCm39) |
G544D |
possibly damaging |
Het |
| Dok2 |
G |
T |
14: 71,015,301 (GRCm39) |
G343W |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,001 (GRCm39) |
N87D |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,097,336 (GRCm39) |
Y237C |
probably damaging |
Het |
| Exoc3 |
T |
C |
13: 74,328,655 (GRCm39) |
T569A |
probably damaging |
Het |
| Fam151a |
T |
C |
4: 106,605,072 (GRCm39) |
V478A |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,942,924 (GRCm39) |
H291L |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,330,167 (GRCm39) |
T186A |
unknown |
Het |
| Ggnbp2 |
T |
C |
11: 84,723,954 (GRCm39) |
Y660C |
probably damaging |
Het |
| Ggt5 |
G |
A |
10: 75,444,637 (GRCm39) |
M318I |
probably benign |
Het |
| Gprc5d |
A |
G |
6: 135,093,175 (GRCm39) |
I244T |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,613 (GRCm39) |
S429P |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,920,892 (GRCm39) |
D1341G |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,557,224 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,432,497 (GRCm39) |
D173G |
probably damaging |
Het |
| Lrrc27 |
C |
T |
7: 138,810,169 (GRCm39) |
T380I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,749 (GRCm39) |
N125S |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,628,998 (GRCm39) |
R2217C |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,322,527 (GRCm39) |
R866W |
probably damaging |
Het |
| Or10s1 |
T |
A |
9: 39,985,967 (GRCm39) |
Y125* |
probably null |
Het |
| Or4d10b |
C |
A |
19: 12,036,913 (GRCm39) |
V68F |
probably benign |
Het |
| P2ry6 |
T |
A |
7: 100,588,071 (GRCm39) |
D96V |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,710,605 (GRCm39) |
S237T |
probably benign |
Het |
| Pck2 |
G |
A |
14: 55,779,967 (GRCm39) |
R72Q |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 115,945,423 (GRCm39) |
R1461Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,504,678 (GRCm39) |
V1130A |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,832 (GRCm39) |
D198E |
probably benign |
Het |
| Rasa1 |
T |
A |
13: 85,364,274 (GRCm39) |
E1022D |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,718,748 (GRCm39) |
Y507H |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,381,696 (GRCm39) |
I488K |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,774,645 (GRCm39) |
E1170D |
probably damaging |
Het |
| Sdk2 |
T |
G |
11: 113,725,656 (GRCm39) |
T1198P |
probably damaging |
Het |
| Sema3g |
C |
T |
14: 30,949,781 (GRCm39) |
T654I |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,999,408 (GRCm39) |
H1108L |
probably damaging |
Het |
| Trgc2 |
T |
A |
13: 19,491,580 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
T |
C |
4: 41,229,709 (GRCm39) |
N142S |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,087,431 (GRCm39) |
F699L |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 45,006,207 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Camsap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Camsap3
|
APN |
8 |
3,652,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00797:Camsap3
|
APN |
8 |
3,652,115 (GRCm39) |
splice site |
probably benign |
|
|
IGL01457:Camsap3
|
APN |
8 |
3,654,795 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01833:Camsap3
|
APN |
8 |
3,658,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02880:Camsap3
|
APN |
8 |
3,653,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Camsap3
|
UTSW |
8 |
3,654,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Camsap3
|
UTSW |
8 |
3,648,772 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0049:Camsap3
|
UTSW |
8 |
3,648,772 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0347:Camsap3
|
UTSW |
8 |
3,652,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:Camsap3
|
UTSW |
8 |
3,637,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0946:Camsap3
|
UTSW |
8 |
3,654,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1169:Camsap3
|
UTSW |
8 |
3,653,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1206:Camsap3
|
UTSW |
8 |
3,654,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1207:Camsap3
|
UTSW |
8 |
3,654,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1207:Camsap3
|
UTSW |
8 |
3,654,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Camsap3
|
UTSW |
8 |
3,653,968 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1475:Camsap3
|
UTSW |
8 |
3,654,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Camsap3
|
UTSW |
8 |
3,654,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Camsap3
|
UTSW |
8 |
3,648,740 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1820:Camsap3
|
UTSW |
8 |
3,653,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Camsap3
|
UTSW |
8 |
3,653,922 (GRCm39) |
nonsense |
probably null |
|
|
R1914:Camsap3
|
UTSW |
8 |
3,654,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Camsap3
|
UTSW |
8 |
3,654,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2338:Camsap3
|
UTSW |
8 |
3,656,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Camsap3
|
UTSW |
8 |
3,653,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3726:Camsap3
|
UTSW |
8 |
3,653,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4528:Camsap3
|
UTSW |
8 |
3,656,515 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4652:Camsap3
|
UTSW |
8 |
3,650,689 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5025:Camsap3
|
UTSW |
8 |
3,654,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Camsap3
|
UTSW |
8 |
3,650,680 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5381:Camsap3
|
UTSW |
8 |
3,653,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Camsap3
|
UTSW |
8 |
3,654,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Camsap3
|
UTSW |
8 |
3,647,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:Camsap3
|
UTSW |
8 |
3,653,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Camsap3
|
UTSW |
8 |
3,651,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6363:Camsap3
|
UTSW |
8 |
3,651,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Camsap3
|
UTSW |
8 |
3,653,941 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6595:Camsap3
|
UTSW |
8 |
3,658,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Camsap3
|
UTSW |
8 |
3,654,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Camsap3
|
UTSW |
8 |
3,658,242 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7062:Camsap3
|
UTSW |
8 |
3,657,834 (GRCm39) |
unclassified |
probably benign |
|
|
R7109:Camsap3
|
UTSW |
8 |
3,648,087 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7233:Camsap3
|
UTSW |
8 |
3,650,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7236:Camsap3
|
UTSW |
8 |
3,654,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Camsap3
|
UTSW |
8 |
3,654,648 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7340:Camsap3
|
UTSW |
8 |
3,637,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7512:Camsap3
|
UTSW |
8 |
3,648,740 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7779:Camsap3
|
UTSW |
8 |
3,647,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Camsap3
|
UTSW |
8 |
3,648,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Camsap3
|
UTSW |
8 |
3,650,679 (GRCm39) |
nonsense |
probably null |
|
|
R8456:Camsap3
|
UTSW |
8 |
3,650,679 (GRCm39) |
nonsense |
probably null |
|
|
R8696:Camsap3
|
UTSW |
8 |
3,653,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Camsap3
|
UTSW |
8 |
3,652,624 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9022:Camsap3
|
UTSW |
8 |
3,656,575 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9380:Camsap3
|
UTSW |
8 |
3,653,999 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9706:Camsap3
|
UTSW |
8 |
3,658,689 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1192:Camsap3
|
UTSW |
8 |
3,654,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation