Incidental Mutation 'R5388:Camsap3'
| ID |
425415 |
| 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 |
042960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R5388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3637293-3659075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3654276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 649
(I649F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057028]
[ENSMUST00000171962]
[ENSMUST00000207077]
[ENSMUST00000207432]
[ENSMUST00000207533]
[ENSMUST00000207970]
[ENSMUST00000207712]
[ENSMUST00000208240]
|
| AlphaFold |
Q80VC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057028
AA Change: I622F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: I622F
| 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: I623F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: I623F
| 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: I638F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207152
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207432
AA Change: I649F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207533
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207970
AA Change: I633F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208240
|
| Meta Mutation Damage Score |
0.1057 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,969 (GRCm39) |
|
probably null |
Het |
| Acap2 |
C |
A |
16: 30,928,543 (GRCm39) |
C475F |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,879,284 (GRCm39) |
P603Q |
possibly damaging |
Het |
| Adamts20 |
C |
G |
15: 94,243,659 (GRCm39) |
V657L |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,125,458 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
G |
A |
8: 69,554,089 (GRCm39) |
V89I |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,353,542 (GRCm39) |
P676L |
probably damaging |
Het |
| Camta1 |
G |
T |
4: 151,159,695 (GRCm39) |
S490R |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,809,719 (GRCm39) |
I2221T |
probably damaging |
Het |
| Cfd |
A |
T |
10: 79,727,959 (GRCm39) |
D164V |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,384 (GRCm39) |
D278G |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,809,523 (GRCm39) |
L519F |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Cybrd1 |
T |
C |
2: 70,967,989 (GRCm39) |
|
probably null |
Het |
| Cyp2e1 |
T |
C |
7: 140,343,906 (GRCm39) |
L48P |
probably damaging |
Het |
| Eddm13 |
T |
C |
7: 6,269,346 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
| Exosc7 |
A |
T |
9: 122,947,972 (GRCm39) |
D47V |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,722,342 (GRCm39) |
F204L |
probably damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,560 (GRCm39) |
V81M |
probably benign |
Het |
| Gm12367 |
T |
C |
4: 35,235,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grxcr1 |
C |
A |
5: 68,323,538 (GRCm39) |
T272K |
probably damaging |
Het |
| Kcna5 |
C |
T |
6: 126,511,859 (GRCm39) |
D90N |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,635 (GRCm39) |
Y618* |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,832,539 (GRCm39) |
H1670L |
possibly damaging |
Het |
| Mtus2 |
C |
T |
5: 148,243,518 (GRCm39) |
Q113* |
probably null |
Het |
| Ncam1 |
A |
C |
9: 49,456,054 (GRCm39) |
D521E |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,651,740 (GRCm39) |
H291R |
possibly damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,062,967 (GRCm39) |
N695H |
probably damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,164,733 (GRCm39) |
Q1105H |
probably damaging |
Het |
| Paxip1 |
C |
G |
5: 27,986,453 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,583,695 (GRCm39) |
W136R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,741,856 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkn3 |
T |
A |
2: 29,971,086 (GRCm39) |
S222T |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,898,338 (GRCm39) |
I98N |
probably damaging |
Het |
| Ppfibp1 |
T |
G |
6: 146,917,828 (GRCm39) |
S484A |
probably damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,280,312 (GRCm39) |
F127L |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,954 (GRCm39) |
Y210H |
probably benign |
Het |
| Rad21l |
C |
T |
2: 151,495,403 (GRCm39) |
V427I |
probably benign |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rnf225 |
A |
G |
7: 12,661,932 (GRCm39) |
D37G |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,967 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,119,561 (GRCm39) |
Q4483R |
probably damaging |
Het |
| Tmem38b |
C |
T |
4: 53,859,945 (GRCm39) |
R242W |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,603,158 (GRCm39) |
K1035I |
possibly damaging |
Het |
| Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,819,294 (GRCm39) |
D252G |
probably benign |
Het |
| Usp14 |
C |
T |
18: 10,018,023 (GRCm39) |
E90K |
probably damaging |
Het |
| Yme1l1 |
T |
G |
2: 23,052,569 (GRCm39) |
D74E |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,990,092 (GRCm39) |
L732Q |
possibly damaging |
Het |
| Zbbx |
G |
T |
3: 74,990,977 (GRCm39) |
A289D |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,446 (GRCm39) |
V1499I |
possibly damaging |
Het |
| Zfp622 |
T |
C |
15: 25,996,285 (GRCm39) |
V184A |
possibly damaging |
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 |
|
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 |
|
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'- AGTGAAGATGACCAGTTTTGCTG -3'
(R):5'- TAATCCCCAAGTCCCTCTGG -3'
Sequencing Primer
(F):5'- CTGAACGCAAGAAACAGCTG -3'
(R):5'- CAGGTCTGGAGAGAAGGTAAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation