Incidental Mutation 'R5167:Spdl1'
ID |
397357 |
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 |
042747-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R5167 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
34700017-34724468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 34704187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 549
(H549N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093191]
|
AlphaFold |
Q923A2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093191
AA Change: H549N
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090882 Gene: ENSMUSG00000069910 AA Change: H549N
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (38/39) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly 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 |
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'- ACACAGTGCTCAGACTGCAG -3'
(R):5'- GAGGAGGAATCCTGTCTTAATAGC -3'
Sequencing Primer
(F):5'- AGACTGCAGAGCTCCAGTG -3'
(R):5'- AGCTTAAAAGATAACACTGTGCAG -3'
|
Posted On |
2016-07-06 |