Incidental Mutation 'R1315:Spdl1'
| ID |
157525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spdl1
|
| Ensembl Gene |
ENSMUSG00000069910 |
| Gene Name |
spindle apparatus coiled-coil protein 1 |
| Synonyms |
2600001J17Rik, Ccdc99, 1700018I02Rik, 2810049B11Rik |
| MMRRC Submission |
039381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R1315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
34700017-34724468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34704234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 533
(K533M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093191]
|
| AlphaFold |
Q923A2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000093191
AA Change: K533M
|
| SMART Domains |
Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
AA Change: K533M
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
370 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
478 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,387,128 (GRCm39) |
V202A |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,735,262 (GRCm39) |
M1503T |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,831,270 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,361,060 (GRCm39) |
T1457I |
probably damaging |
Het |
| Or8k24 |
C |
A |
2: 86,216,518 (GRCm39) |
M81I |
possibly damaging |
Het |
| Osbpl2 |
T |
C |
2: 179,790,395 (GRCm39) |
L223P |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,142,486 (GRCm39) |
D1301G |
probably benign |
Het |
| Rrp1b |
T |
C |
17: 32,275,613 (GRCm39) |
F387L |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,450,347 (GRCm39) |
V49A |
probably benign |
Het |
| Wnt8b |
T |
C |
19: 44,500,462 (GRCm39) |
C350R |
probably damaging |
Het |
|
| Other mutations in Spdl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02417:Spdl1
|
APN |
11 |
34,704,181 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02694:Spdl1
|
APN |
11 |
34,704,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03131:Spdl1
|
APN |
11 |
34,721,592 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0295:Spdl1
|
UTSW |
11 |
34,704,170 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0319:Spdl1
|
UTSW |
11 |
34,714,347 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1017:Spdl1
|
UTSW |
11 |
34,710,117 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1195:Spdl1
|
UTSW |
11 |
34,710,644 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1195:Spdl1
|
UTSW |
11 |
34,710,644 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1195:Spdl1
|
UTSW |
11 |
34,710,644 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1296:Spdl1
|
UTSW |
11 |
34,704,434 (GRCm39) |
missense |
unknown |
|
|
R1799:Spdl1
|
UTSW |
11 |
34,711,856 (GRCm39) |
nonsense |
probably null |
|
|
R2002:Spdl1
|
UTSW |
11 |
34,713,473 (GRCm39) |
missense |
probably benign |
|
|
R2291:Spdl1
|
UTSW |
11 |
34,710,136 (GRCm39) |
nonsense |
probably null |
|
|
R4771:Spdl1
|
UTSW |
11 |
34,704,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5030:Spdl1
|
UTSW |
11 |
34,714,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5167:Spdl1
|
UTSW |
11 |
34,704,187 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5477:Spdl1
|
UTSW |
11 |
34,713,037 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6258:Spdl1
|
UTSW |
11 |
34,710,713 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6260:Spdl1
|
UTSW |
11 |
34,710,713 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6554:Spdl1
|
UTSW |
11 |
34,713,397 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6695:Spdl1
|
UTSW |
11 |
34,713,830 (GRCm39) |
splice site |
probably null |
|
|
R6714:Spdl1
|
UTSW |
11 |
34,713,830 (GRCm39) |
splice site |
probably null |
|
|
R6980:Spdl1
|
UTSW |
11 |
34,721,706 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R7355:Spdl1
|
UTSW |
11 |
34,714,191 (GRCm39) |
missense |
not run |
|
|
R7791:Spdl1
|
UTSW |
11 |
34,704,304 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7844:Spdl1
|
UTSW |
11 |
34,704,170 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8029:Spdl1
|
UTSW |
11 |
34,713,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8515:Spdl1
|
UTSW |
11 |
34,704,252 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8923:Spdl1
|
UTSW |
11 |
34,704,478 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9005:Spdl1
|
UTSW |
11 |
34,700,535 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9502:Spdl1
|
UTSW |
11 |
34,713,283 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1176:Spdl1
|
UTSW |
11 |
34,713,284 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGGAACATAGACAGAGCCAC -3'
(R):5'- TGCTGCCATTGAATATAACCACGCC -3'
Sequencing Primer
(F):5'- ACACGGCACAATGCAGG -3'
(R):5'- ATTGAATATAACCACGCCAGAAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation