Incidental Mutation 'R5477:Spdl1'
| ID |
434123 |
| 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 |
043038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R5477 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
34700017-34724468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34713037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 288
(F288I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093191]
|
| AlphaFold |
Q923A2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093191
AA Change: F288I
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
AA Change: F288I
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
| Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
| Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
| Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
| Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
| Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
| Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
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 |
|
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'- TGAGGAACCACTAAAGCTATCAGC -3'
(R):5'- ATAGCAAAGGGAACTCGCTG -3'
Sequencing Primer
(F):5'- CAGCTGCTGTCCCAAGATG -3'
(R):5'- GTTCGCAGAGGTACTTGCAAGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation