Incidental Mutation 'R8514:Ckap2l'
| ID |
656015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ckap2l
|
| Ensembl Gene |
ENSMUSG00000048327 |
| Gene Name |
cytoskeleton associated protein 2-like |
| Synonyms |
Radmis, 2010016H04Rik, 2610318C08Rik |
| MMRRC Submission |
067945-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R8514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
129110130-129139132 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 129127788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 130
(A130E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052708]
|
| AlphaFold |
Q7TS74 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052708
AA Change: A130E
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: A130E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
Pfam:CKAP2_C
|
425 |
644 |
3e-32 |
PFAM |
|
Pfam:CKAP2_C
|
675 |
734 |
6.9e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
A |
G |
7: 19,492,466 (GRCm39) |
V543A |
probably damaging |
Het |
| Calhm6 |
G |
A |
10: 34,002,399 (GRCm39) |
T228I |
possibly damaging |
Het |
| Capn1 |
T |
C |
19: 6,047,854 (GRCm39) |
E403G |
probably damaging |
Het |
| Casp12 |
T |
C |
9: 5,352,735 (GRCm39) |
F186L |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,121,459 (GRCm39) |
Q13R |
unknown |
Het |
| Cip2a |
T |
C |
16: 48,817,810 (GRCm39) |
V60A |
possibly damaging |
Het |
| Creld1 |
C |
T |
6: 113,469,830 (GRCm39) |
R411C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,896,199 (GRCm39) |
S167T |
probably benign |
Het |
| Emc10 |
G |
T |
7: 44,142,646 (GRCm39) |
Q99K |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,242,699 (GRCm39) |
I1287L |
probably benign |
Het |
| Gjc3 |
T |
A |
5: 137,955,772 (GRCm39) |
Y171F |
probably damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTG |
1: 88,431,042 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,384,864 (GRCm39) |
V662A |
possibly damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,181 (GRCm39) |
V286A |
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,650 (GRCm39) |
E293G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,933,166 (GRCm39) |
V847A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,390,521 (GRCm39) |
C317R |
unknown |
Het |
| Mdn1 |
T |
A |
4: 32,739,857 (GRCm39) |
Y3704N |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,701,977 (GRCm39) |
R422L |
probably damaging |
Het |
| Mndal |
T |
C |
1: 173,687,758 (GRCm39) |
D492G |
possibly damaging |
Het |
| Myom2 |
C |
T |
8: 15,175,153 (GRCm39) |
P1244L |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,181 (GRCm39) |
C1025R |
probably damaging |
Het |
| Nthl1 |
G |
A |
17: 24,853,089 (GRCm39) |
V98M |
probably damaging |
Het |
| Or12e10 |
A |
T |
2: 87,641,054 (GRCm39) |
I297F |
probably damaging |
Het |
| Or4a15 |
T |
C |
2: 89,193,573 (GRCm39) |
I67V |
probably benign |
Het |
| Pank3 |
A |
G |
11: 35,667,186 (GRCm39) |
D101G |
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,007,030 (GRCm39) |
R178G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,618,822 (GRCm39) |
|
probably null |
Het |
| Platr25 |
T |
C |
13: 62,848,586 (GRCm39) |
Y92C |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 112,971,462 (GRCm39) |
D43V |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,330,396 (GRCm39) |
T759I |
unknown |
Het |
| Pros1 |
A |
G |
16: 62,730,472 (GRCm39) |
T321A |
probably benign |
Het |
| Rad50 |
G |
A |
11: 53,569,766 (GRCm39) |
Q882* |
probably null |
Het |
| Rasa3 |
A |
C |
8: 13,631,322 (GRCm39) |
F533V |
probably benign |
Het |
| Rgs18 |
T |
A |
1: 144,629,765 (GRCm39) |
I165F |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,560,307 (GRCm39) |
V511I |
possibly damaging |
Het |
| Sdc3 |
A |
G |
4: 130,546,072 (GRCm39) |
T144A |
unknown |
Het |
| Slc9a9 |
T |
C |
9: 94,818,418 (GRCm39) |
F271L |
probably benign |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,586 (GRCm39) |
V149M |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,697,187 (GRCm39) |
D759E |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,406 (GRCm39) |
L893P |
probably damaging |
Het |
| Tex101 |
T |
A |
7: 24,367,957 (GRCm39) |
Q167L |
possibly damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,783,438 (GRCm39) |
R970* |
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,329,742 (GRCm39) |
S562P |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,414,554 (GRCm39) |
W44R |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,891,263 (GRCm39) |
E546G |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,712,346 (GRCm39) |
Q563L |
probably benign |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,138 (GRCm39) |
V176I |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 63,993,942 (GRCm39) |
K96R |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,413,992 (GRCm39) |
V817A |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 101,999,219 (GRCm39) |
C3066S |
possibly damaging |
Het |
| Yeats4 |
T |
C |
10: 117,051,660 (GRCm39) |
E199G |
possibly damaging |
Het |
|
| Other mutations in Ckap2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01401:Ckap2l
|
APN |
2 |
129,111,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Ckap2l
|
APN |
2 |
129,127,542 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03085:Ckap2l
|
APN |
2 |
129,126,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03175:Ckap2l
|
APN |
2 |
129,127,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03333:Ckap2l
|
APN |
2 |
129,138,228 (GRCm39) |
splice site |
probably null |
|
|
R0196:Ckap2l
|
UTSW |
2 |
129,127,342 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0501:Ckap2l
|
UTSW |
2 |
129,127,411 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0715:Ckap2l
|
UTSW |
2 |
129,127,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0834:Ckap2l
|
UTSW |
2 |
129,138,224 (GRCm39) |
splice site |
probably benign |
|
|
R1119:Ckap2l
|
UTSW |
2 |
129,114,492 (GRCm39) |
splice site |
probably benign |
|
|
R1561:Ckap2l
|
UTSW |
2 |
129,112,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1677:Ckap2l
|
UTSW |
2 |
129,127,087 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1823:Ckap2l
|
UTSW |
2 |
129,117,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Ckap2l
|
UTSW |
2 |
129,127,342 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4803:Ckap2l
|
UTSW |
2 |
129,111,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Ckap2l
|
UTSW |
2 |
129,127,389 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5264:Ckap2l
|
UTSW |
2 |
129,127,299 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5297:Ckap2l
|
UTSW |
2 |
129,127,290 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5535:Ckap2l
|
UTSW |
2 |
129,127,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5606:Ckap2l
|
UTSW |
2 |
129,127,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6327:Ckap2l
|
UTSW |
2 |
129,127,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Ckap2l
|
UTSW |
2 |
129,111,034 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6726:Ckap2l
|
UTSW |
2 |
129,111,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Ckap2l
|
UTSW |
2 |
129,126,975 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7220:Ckap2l
|
UTSW |
2 |
129,117,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Ckap2l
|
UTSW |
2 |
129,127,284 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7374:Ckap2l
|
UTSW |
2 |
129,126,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Ckap2l
|
UTSW |
2 |
129,111,172 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7484:Ckap2l
|
UTSW |
2 |
129,114,455 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7611:Ckap2l
|
UTSW |
2 |
129,127,600 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7868:Ckap2l
|
UTSW |
2 |
129,127,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Ckap2l
|
UTSW |
2 |
129,126,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8790:Ckap2l
|
UTSW |
2 |
129,111,172 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9043:Ckap2l
|
UTSW |
2 |
129,126,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9215:Ckap2l
|
UTSW |
2 |
129,123,826 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9496:Ckap2l
|
UTSW |
2 |
129,112,595 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9526:Ckap2l
|
UTSW |
2 |
129,111,161 (GRCm39) |
nonsense |
probably null |
|
|
RF037:Ckap2l
|
UTSW |
2 |
129,112,569 (GRCm39) |
small deletion |
probably benign |
|
|
Z1176:Ckap2l
|
UTSW |
2 |
129,127,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGATCTGGCTTCTCAGG -3'
(R):5'- TGTTTTCAGACTCCTGGACC -3'
Sequencing Primer
(F):5'- CTTCTCAGGTTTTGGCAGGGC -3'
(R):5'- GATGTTTCCAATCATGTTTTGCCTAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation