Incidental Mutation 'R0926:Camsap3'
| ID |
83203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camsap3
|
| Ensembl Gene |
ENSMUSG00000044433 |
| Gene Name |
calmodulin regulated spectrin-associated protein family, member 3 |
| Synonyms |
Nezha, 2310057J16Rik |
| MMRRC Submission |
039073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R0926 (G1)
|
| Quality Score |
137 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3637293-3659075 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 3637960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057028]
[ENSMUST00000086479]
[ENSMUST00000136592]
[ENSMUST00000151633]
[ENSMUST00000171962]
[ENSMUST00000207077]
[ENSMUST00000207712]
[ENSMUST00000207533]
[ENSMUST00000207970]
[ENSMUST00000207432]
[ENSMUST00000208240]
[ENSMUST00000208036]
|
| AlphaFold |
Q80VC9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057028
|
| SMART Domains |
Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
| 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 |
probably benign
Transcript: ENSMUST00000086479
|
| SMART Domains |
Protein: ENSMUSP00000136628
Gene: ENSMUSG00000065952
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136592
|
| SMART Domains |
Protein: ENSMUSP00000123235
Gene: ENSMUSG00000065952
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151633
|
| SMART Domains |
Protein: ENSMUSP00000119487
Gene: ENSMUSG00000065952
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171962
|
| SMART Domains |
Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
| 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 null
Transcript: ENSMUST00000207077
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207712
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207533
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207970
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207432
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208036
|
| Meta Mutation Damage Score |
0.9589 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
98% (61/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,164,832 (GRCm39) |
D514G |
probably damaging |
Het |
| Acbd7 |
A |
T |
2: 3,341,478 (GRCm39) |
I41F |
possibly damaging |
Het |
| Actr8 |
G |
T |
14: 29,709,181 (GRCm39) |
V262L |
probably benign |
Het |
| Anp32e |
A |
G |
3: 95,844,454 (GRCm39) |
D108G |
probably damaging |
Het |
| Banp |
G |
A |
8: 122,747,294 (GRCm39) |
G448S |
probably benign |
Het |
| Cd22 |
C |
A |
7: 30,568,934 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
A |
T |
19: 47,951,001 (GRCm39) |
Q454L |
probably damaging |
Het |
| Cntn4 |
C |
T |
6: 106,632,542 (GRCm39) |
T522I |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,883,829 (GRCm39) |
D233N |
unknown |
Het |
| Csmd1 |
G |
T |
8: 16,083,590 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,830,210 (GRCm39) |
P38Q |
probably damaging |
Het |
| Dnal4 |
T |
C |
15: 79,646,226 (GRCm39) |
T93A |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,367,194 (GRCm39) |
D614V |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,199,682 (GRCm39) |
I75N |
possibly damaging |
Het |
| Fgd6 |
T |
A |
10: 93,970,909 (GRCm39) |
Y1229N |
probably benign |
Het |
| Fhip2a |
G |
A |
19: 57,369,522 (GRCm39) |
A383T |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,268,497 (GRCm39) |
L214R |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,602,337 (GRCm39) |
D603E |
probably damaging |
Het |
| H2-M9 |
A |
G |
17: 36,952,665 (GRCm39) |
V127A |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,782,296 (GRCm39) |
S1328T |
possibly damaging |
Het |
| Ica1l |
T |
C |
1: 60,045,456 (GRCm39) |
N269S |
probably benign |
Het |
| Il18r1 |
T |
C |
1: 40,526,188 (GRCm39) |
Y245H |
probably damaging |
Het |
| Il6ra |
A |
T |
3: 89,794,376 (GRCm39) |
V195E |
probably damaging |
Het |
| Inpp5j |
A |
G |
11: 3,451,439 (GRCm39) |
|
probably benign |
Het |
| Isy1 |
T |
C |
6: 87,796,125 (GRCm39) |
T271A |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,155,993 (GRCm39) |
Y254C |
probably damaging |
Het |
| Ly6e |
T |
G |
15: 74,830,219 (GRCm39) |
S73A |
probably damaging |
Het |
| Mcmdc2 |
T |
A |
1: 9,990,801 (GRCm39) |
L326* |
probably null |
Het |
| Muc4 |
G |
A |
16: 32,576,570 (GRCm39) |
|
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,981,340 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
G |
A |
2: 25,138,360 (GRCm39) |
H409Y |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,965,234 (GRCm39) |
D1606G |
probably damaging |
Het |
| Or2t44 |
A |
G |
11: 58,677,935 (GRCm39) |
N292D |
probably damaging |
Het |
| Or3a1d |
G |
A |
11: 74,238,132 (GRCm39) |
R93C |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,892 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,092 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,554 (GRCm39) |
D68V |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,848,051 (GRCm39) |
I73T |
possibly damaging |
Het |
| Or5l13 |
A |
T |
2: 87,780,266 (GRCm39) |
F104I |
probably damaging |
Het |
| Paox |
C |
A |
7: 139,713,951 (GRCm39) |
T237K |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,231,243 (GRCm39) |
L4I |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,523 (GRCm39) |
T165S |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,290,964 (GRCm39) |
S523P |
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,338 (GRCm39) |
D1056G |
probably damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,269,272 (GRCm39) |
T450I |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,058,198 (GRCm39) |
D37G |
probably damaging |
Het |
| Prdm5 |
A |
G |
6: 65,860,531 (GRCm39) |
H221R |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,712,378 (GRCm39) |
I72N |
probably damaging |
Het |
| Rhou |
A |
G |
8: 124,387,715 (GRCm39) |
E149G |
probably damaging |
Het |
| She |
A |
G |
3: 89,758,901 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
A |
C |
1: 131,680,954 (GRCm39) |
H121P |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,432 (GRCm39) |
D1431G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,965,407 (GRCm39) |
D1634V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,627,571 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
possibly damaging |
Het |
| Zcrb1 |
T |
C |
15: 93,289,409 (GRCm39) |
K51E |
probably damaging |
Het |
| Zfp110 |
C |
T |
7: 12,583,808 (GRCm39) |
Q819* |
probably null |
Het |
| Zfp616 |
A |
G |
11: 73,976,644 (GRCm39) |
N971S |
probably benign |
Het |
| Zfp827 |
A |
T |
8: 79,844,821 (GRCm39) |
T664S |
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 |
|
IGL02095:Camsap3
|
APN |
8 |
3,653,845 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGGACATGCGTTCTTCTGC -3'
(R):5'- TTGGAGGCCCAGCTTAGCAAAG -3'
Sequencing Primer
(F):5'- gcagcccagcCCATCAG -3'
(R):5'- GACCAAAAGCTCGGGGACC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation