Incidental Mutation 'R3786:Misp'
| ID |
272264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Misp
|
| Ensembl Gene |
ENSMUSG00000035852 |
| Gene Name |
mitotic spindle positioning |
| Synonyms |
9130017N09Rik |
| MMRRC Submission |
040753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R3786 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79656853-79666286 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79661795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 71
(V71I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046833]
[ENSMUST00000169041]
[ENSMUST00000218687]
[ENSMUST00000219305]
[ENSMUST00000219734]
|
| AlphaFold |
Q9D279 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046833
AA Change: V71I
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000048893
Gene: ENSMUSG00000035852
AA Change: V71I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
284 |
N/A |
INTRINSIC |
|
Pfam:AKAP2_C
|
294 |
643 |
2.2e-140 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169041
AA Change: V71I
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130071
Gene: ENSMUSG00000035852
AA Change: V71I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
284 |
N/A |
INTRINSIC |
|
Pfam:AKAP2_C
|
294 |
643 |
1.7e-150 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218687
AA Change: V71I
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219305
AA Change: V71I
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219734
AA Change: V71I
PolyPhen 2
Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,066,605 (GRCm39) |
L41Q |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Btbd7 |
C |
T |
12: 102,804,411 (GRCm39) |
E210K |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,356 (GRCm39) |
R231H |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,390,534 (GRCm39) |
E1099D |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Dzip3 |
C |
A |
16: 48,795,906 (GRCm39) |
C155F |
probably benign |
Het |
| Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,068 (GRCm39) |
E327V |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Hnrnpl |
A |
G |
7: 28,510,436 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,439,839 (GRCm39) |
I176N |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,220,931 (GRCm39) |
H71R |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,283,590 (GRCm39) |
Q734R |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
| Myh13 |
A |
G |
11: 67,218,014 (GRCm39) |
N29S |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,091,927 (GRCm39) |
V5046F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Nrg1 |
A |
T |
8: 32,311,411 (GRCm39) |
V376E |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Odr4 |
A |
G |
1: 150,260,282 (GRCm39) |
I112T |
probably benign |
Het |
| Ppp1r21 |
T |
A |
17: 88,884,555 (GRCm39) |
|
probably null |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Rhoc |
T |
C |
3: 104,700,003 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,333,521 (GRCm39) |
V708A |
probably damaging |
Het |
| Rtcb |
G |
T |
10: 85,778,458 (GRCm39) |
T395K |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,056,018 (GRCm39) |
T967A |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,583,355 (GRCm39) |
H1062R |
possibly damaging |
Het |
| Spatc1l |
C |
T |
10: 76,399,736 (GRCm39) |
T86I |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tsc1 |
A |
G |
2: 28,577,154 (GRCm39) |
D1151G |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,368,419 (GRCm39) |
D413G |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Wnt16 |
A |
G |
6: 22,298,021 (GRCm39) |
N296D |
probably benign |
Het |
|
| Other mutations in Misp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02419:Misp
|
APN |
10 |
79,663,705 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02565:Misp
|
APN |
10 |
79,662,177 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02901:Misp
|
APN |
10 |
79,662,771 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1118:Misp
|
UTSW |
10 |
79,662,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1421:Misp
|
UTSW |
10 |
79,662,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Misp
|
UTSW |
10 |
79,661,777 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2864:Misp
|
UTSW |
10 |
79,662,872 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5035:Misp
|
UTSW |
10 |
79,663,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5503:Misp
|
UTSW |
10 |
79,662,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Misp
|
UTSW |
10 |
79,662,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Misp
|
UTSW |
10 |
79,663,728 (GRCm39) |
nonsense |
probably null |
|
|
R6066:Misp
|
UTSW |
10 |
79,662,146 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6236:Misp
|
UTSW |
10 |
79,662,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Misp
|
UTSW |
10 |
79,662,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8170:Misp
|
UTSW |
10 |
79,662,300 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8479:Misp
|
UTSW |
10 |
79,663,750 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8961:Misp
|
UTSW |
10 |
79,663,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9430:Misp
|
UTSW |
10 |
79,661,675 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGACCAGATACCCCATCTTC -3'
(R):5'- TGTCTGGCAATCCTGAGGTC -3'
Sequencing Primer
(F):5'- TTCAGCAACCCCCGCTCAG -3'
(R):5'- AATCCTGAGGTCCCCATGGTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation