Incidental Mutation 'R6695:Spdl1'
| ID |
543489 |
| 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 |
044813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R6695 (G1)
|
| Quality Score |
70.0183 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
34700017-34724468 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 34713830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093191]
|
| AlphaFold |
Q923A2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093191
|
| SMART Domains |
Protein: ENSMUSP00000090882
Gene: ENSMUSG00000069910
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd9 |
A |
T |
12: 110,943,497 (GRCm39) |
L179H |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,612,714 (GRCm39) |
A370S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,876,019 (GRCm39) |
I1053F |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,721,230 (GRCm39) |
V1467A |
probably damaging |
Het |
| Cyp4f15 |
T |
A |
17: 32,911,586 (GRCm39) |
L156* |
probably null |
Het |
| Dmwd |
T |
A |
7: 18,814,652 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dtx4 |
T |
A |
19: 12,450,599 (GRCm39) |
R538* |
probably null |
Het |
| Fcgbp |
T |
A |
7: 27,785,695 (GRCm39) |
C377* |
probably null |
Het |
| Galntl6 |
G |
T |
8: 58,880,804 (GRCm39) |
H116Q |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,391,148 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
G |
8: 111,053,092 (GRCm39) |
S255A |
probably benign |
Het |
| Knstrn |
G |
A |
2: 118,644,723 (GRCm39) |
A48T |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,852,470 (GRCm39) |
D127G |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,272,609 (GRCm39) |
S12P |
possibly damaging |
Het |
| Man2c1 |
A |
T |
9: 57,048,875 (GRCm39) |
H822L |
probably benign |
Het |
| Map3k13 |
G |
T |
16: 21,741,028 (GRCm39) |
G785V |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,219,366 (GRCm39) |
H454R |
probably damaging |
Het |
| Mib2 |
G |
A |
4: 155,745,629 (GRCm39) |
R61C |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,561,616 (GRCm39) |
L17F |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,114,652 (GRCm39) |
I879V |
probably benign |
Het |
| Nomo1 |
T |
A |
7: 45,715,885 (GRCm39) |
S751T |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,117 (GRCm39) |
S110C |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,764 (GRCm39) |
I221L |
possibly damaging |
Het |
| Or5g27 |
A |
G |
2: 85,409,793 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,256 (GRCm39) |
N412S |
probably benign |
Het |
| Plk5 |
T |
C |
10: 80,196,035 (GRCm39) |
S235P |
probably benign |
Het |
| Ppm1j |
A |
G |
3: 104,692,802 (GRCm39) |
D437G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,633,262 (GRCm39) |
E1148G |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,489,754 (GRCm39) |
N43S |
probably damaging |
Het |
| Rc3h2 |
A |
C |
2: 37,304,673 (GRCm39) |
I29S |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
| Stk32c |
A |
T |
7: 138,702,880 (GRCm39) |
V53E |
probably damaging |
Het |
| Strc |
A |
T |
2: 121,207,705 (GRCm39) |
F555L |
probably benign |
Het |
| Sugct |
T |
G |
13: 17,497,815 (GRCm39) |
N286T |
possibly damaging |
Het |
| Swsap1 |
A |
T |
9: 21,867,971 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
A |
17: 14,894,426 (GRCm39) |
D807V |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,974 (GRCm39) |
D492G |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,514,018 (GRCm39) |
S1184T |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,436 (GRCm39) |
Y945N |
probably benign |
Het |
| Usp54 |
G |
T |
14: 20,610,937 (GRCm39) |
A1293D |
possibly damaging |
Het |
| Vps52 |
A |
T |
17: 34,182,173 (GRCm39) |
K516* |
probably null |
Het |
| Zbtb17 |
T |
A |
4: 141,189,110 (GRCm39) |
V10D |
probably damaging |
Het |
| Zfp607b |
T |
C |
7: 27,403,464 (GRCm39) |
V640A |
probably benign |
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 |
|
R6554:Spdl1
|
UTSW |
11 |
34,713,397 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- GGTTGCCAAGTATATCCAAGC -3'
(R):5'- CATGCTGCAGAACTTTCAGGTG -3'
Sequencing Primer
(F):5'- ctctctttctctctttctctct -3'
(R):5'- CCCTGGCGTCATTTATAG -3'
|
| Posted On |
2019-01-24 |
Incidental Mutation