Incidental Mutation 'R6554:Spdl1'
ID |
521863 |
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 |
044679-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R6554 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
34700017-34724468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 34713397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 224
(N224T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093191]
|
AlphaFold |
Q923A2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093191
AA Change: N224T
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090882 Gene: ENSMUSG00000069910 AA Change: N224T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148853
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (37/37) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,618,246 (GRCm39) |
R180C |
probably damaging |
Het |
B3galt9 |
C |
A |
2: 34,729,276 (GRCm39) |
S358R |
probably benign |
Het |
Ces1b |
C |
A |
8: 93,791,619 (GRCm39) |
V327L |
probably benign |
Het |
Cps1 |
C |
T |
1: 67,213,628 (GRCm39) |
R787* |
probably null |
Het |
Dmrt2 |
C |
T |
19: 25,655,312 (GRCm39) |
P304S |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,557,346 (GRCm39) |
D429G |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,616,282 (GRCm39) |
M3111K |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,037,699 (GRCm39) |
V3393A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,517,063 (GRCm39) |
D1007G |
possibly damaging |
Het |
Flt3 |
A |
C |
5: 147,312,545 (GRCm39) |
L132W |
probably damaging |
Het |
Gm14322 |
G |
A |
2: 177,410,220 (GRCm39) |
S60N |
possibly damaging |
Het |
Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
Kcnj16 |
T |
A |
11: 110,916,131 (GRCm39) |
Y264* |
probably null |
Het |
Klkb1 |
T |
A |
8: 45,726,591 (GRCm39) |
I471F |
probably damaging |
Het |
Lrfn4 |
T |
C |
19: 4,663,914 (GRCm39) |
T207A |
probably damaging |
Het |
Mfsd4b5 |
T |
A |
10: 39,862,428 (GRCm39) |
T32S |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,430,645 (GRCm39) |
D234G |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,454,279 (GRCm39) |
T218A |
possibly damaging |
Het |
Nsd3 |
A |
T |
8: 26,152,891 (GRCm39) |
E410D |
probably damaging |
Het |
Or4g17 |
C |
T |
2: 111,209,504 (GRCm39) |
S53F |
possibly damaging |
Het |
Or5aq7 |
A |
T |
2: 86,937,970 (GRCm39) |
S254T |
probably benign |
Het |
Reln |
T |
C |
5: 22,101,838 (GRCm39) |
Y3364C |
probably damaging |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Serpina1d |
A |
T |
12: 103,731,062 (GRCm39) |
H305Q |
probably benign |
Het |
Skic8 |
A |
T |
9: 54,634,929 (GRCm39) |
I88N |
probably damaging |
Het |
Skint8 |
G |
A |
4: 111,784,413 (GRCm39) |
C13Y |
probably benign |
Het |
Smc4 |
G |
A |
3: 68,936,848 (GRCm39) |
V863I |
probably benign |
Het |
Sprr1b |
T |
G |
3: 92,344,420 (GRCm39) |
Q152P |
possibly damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,405 (GRCm39) |
N192S |
probably benign |
Het |
Tbc1d8 |
T |
C |
1: 39,445,903 (GRCm39) |
N96S |
probably damaging |
Het |
Tbccd1 |
A |
T |
16: 22,640,874 (GRCm39) |
I501K |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Unk |
T |
C |
11: 115,942,285 (GRCm39) |
I293T |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,926,139 (GRCm39) |
E548G |
probably damaging |
Het |
Wdr97 |
A |
G |
15: 76,239,178 (GRCm39) |
D85G |
possibly damaging |
Het |
Zeb2 |
A |
T |
2: 44,887,524 (GRCm39) |
V496E |
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 |
|
R1315:Spdl1
|
UTSW |
11 |
34,704,234 (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 |
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'- ACTCAGTCAGGAGAAGGCTTG -3'
(R):5'- CAACTGCTGAGTGAGAAATTATGTC -3'
Sequencing Primer
(F):5'- AAGGCTTGCAAGTACCTCTG -3'
(R):5'- AGAAATTATGTCTGTGTTCCTGC -3'
|
Posted On |
2018-06-06 |