Incidental Mutation 'R6269:Prc1'
| ID |
507220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prc1
|
| Ensembl Gene |
ENSMUSG00000038943 |
| Gene Name |
protein regulator of cytokinesis 1 |
| Synonyms |
D7Ertd348e |
| MMRRC Submission |
044440-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6269 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79944198-79966007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79959175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 381
(R381Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047558]
[ENSMUST00000163812]
[ENSMUST00000172781]
[ENSMUST00000173824]
[ENSMUST00000174172]
[ENSMUST00000174199]
|
| AlphaFold |
Q99K43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047558
AA Change: R381Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
AA Change: R381Q
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
22 |
36 |
1.45e-5 |
PROSPERO |
|
Pfam:MAP65_ASE1
|
37 |
602 |
5.3e-172 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130888
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163812
AA Change: R381Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
AA Change: R381Q
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
22 |
36 |
1.51e-5 |
PROSPERO |
|
Pfam:MAP65_ASE1
|
37 |
605 |
1.9e-173 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172781
|
| SMART Domains |
Protein: ENSMUSP00000133618
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
1 |
150 |
2.1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173170
|
| SMART Domains |
Protein: ENSMUSP00000133817
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
1 |
189 |
2.1e-64 |
PFAM |
|
Pfam:MAP65_ASE1
|
187 |
235 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173824
AA Change: R381Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943
AA Change: R381Q
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
22 |
36 |
8.71e-6 |
PROSPERO |
|
Pfam:MAP65_ASE1
|
37 |
565 |
6e-168 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174172
AA Change: R381Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: R381Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
34 |
615 |
2.9e-167 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174199
AA Change: R340Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
AA Change: R340Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
7 |
524 |
8.1e-158 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174051
AA Change: R10Q
|
| SMART Domains |
Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943
AA Change: R10Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
1 |
244 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174599
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174254
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,941,033 (GRCm39) |
I609N |
unknown |
Het |
| Ano10 |
A |
T |
9: 122,090,308 (GRCm39) |
I277N |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,237,499 (GRCm39) |
D483G |
probably damaging |
Het |
| As3mt |
T |
A |
19: 46,708,391 (GRCm39) |
F226Y |
probably damaging |
Het |
| Atp10a |
G |
A |
7: 58,453,487 (GRCm39) |
R855H |
possibly damaging |
Het |
| Bin3 |
T |
A |
14: 70,374,611 (GRCm39) |
H213Q |
probably benign |
Het |
| Bora |
T |
C |
14: 99,311,103 (GRCm39) |
C512R |
probably damaging |
Het |
| Camk2b |
T |
A |
11: 5,928,497 (GRCm39) |
D414V |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,122,179 (GRCm39) |
L233Q |
unknown |
Het |
| Ccdc73 |
T |
C |
2: 104,737,978 (GRCm39) |
S25P |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,392,117 (GRCm39) |
H572Y |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,111,487 (GRCm39) |
V209A |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,728,524 (GRCm39) |
V650A |
probably benign |
Het |
| Cox6a2 |
T |
A |
7: 127,805,437 (GRCm39) |
S11C |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,656,317 (GRCm39) |
E238G |
probably benign |
Het |
| Cyp2c23 |
T |
A |
19: 44,017,626 (GRCm39) |
M1L |
unknown |
Het |
| Cyp4a10 |
T |
A |
4: 115,381,509 (GRCm39) |
M191K |
probably damaging |
Het |
| Cyp4a14 |
A |
G |
4: 115,348,328 (GRCm39) |
V383A |
possibly damaging |
Het |
| D130052B06Rik |
T |
G |
11: 33,573,916 (GRCm39) |
V171G |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,872,369 (GRCm39) |
T617A |
probably benign |
Het |
| Dyrk4 |
T |
A |
6: 126,863,690 (GRCm39) |
I351F |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,991,585 (GRCm39) |
V94A |
probably benign |
Het |
| Fam111a |
A |
G |
19: 12,565,807 (GRCm39) |
T519A |
probably benign |
Het |
| Gdpd4 |
A |
G |
7: 97,623,669 (GRCm39) |
S314G |
probably damaging |
Het |
| Gm9758 |
T |
A |
5: 14,962,274 (GRCm39) |
K111N |
possibly damaging |
Het |
| Gpr137b |
A |
T |
13: 13,538,096 (GRCm39) |
V285E |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Itgal |
T |
A |
7: 126,929,389 (GRCm39) |
L1102Q |
probably null |
Het |
| Kctd19 |
T |
A |
8: 106,121,992 (GRCm39) |
Y185F |
possibly damaging |
Het |
| Kif5b |
A |
G |
18: 6,223,558 (GRCm39) |
L317P |
possibly damaging |
Het |
| Klhl42 |
C |
A |
6: 146,993,805 (GRCm39) |
A259E |
probably damaging |
Het |
| Lrrc2 |
A |
G |
9: 110,810,017 (GRCm39) |
D351G |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,135,243 (GRCm39) |
E797G |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,813 (GRCm39) |
E63G |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,379,103 (GRCm39) |
|
probably null |
Het |
| Or12e8 |
A |
T |
2: 87,677,218 (GRCm39) |
H201L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,557,295 (GRCm39) |
V627I |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,572,108 (GRCm39) |
Q498* |
probably null |
Het |
| Pdlim5 |
T |
C |
3: 142,018,086 (GRCm39) |
T170A |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,587,167 (GRCm39) |
Y136* |
probably null |
Het |
| Pgghg |
T |
A |
7: 140,526,097 (GRCm39) |
N563K |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,044,916 (GRCm39) |
M1143T |
probably benign |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Psph |
A |
T |
5: 129,843,529 (GRCm39) |
I175N |
probably damaging |
Het |
| Rbbp8nl |
T |
A |
2: 179,923,305 (GRCm39) |
K131* |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sde2 |
G |
A |
1: 180,683,371 (GRCm39) |
V42I |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,952,963 (GRCm39) |
R314* |
probably null |
Het |
| Spag9 |
A |
G |
11: 93,935,333 (GRCm39) |
N48S |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,302,757 (GRCm39) |
M351T |
possibly damaging |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,604,342 (GRCm39) |
L679P |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,944 (GRCm39) |
N815K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,509,557 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,036 (GRCm39) |
I125K |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,566,679 (GRCm39) |
Y732H |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,227,941 (GRCm39) |
S603P |
possibly damaging |
Het |
| Zfp28 |
G |
T |
7: 6,396,612 (GRCm39) |
S349I |
probably benign |
Het |
|
| Other mutations in Prc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Prc1
|
APN |
7 |
79,957,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02342:Prc1
|
APN |
7 |
79,959,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Prc1
|
APN |
7 |
79,950,873 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0026:Prc1
|
UTSW |
7 |
79,960,809 (GRCm39) |
unclassified |
probably benign |
|
|
R0315:Prc1
|
UTSW |
7 |
79,963,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0453:Prc1
|
UTSW |
7 |
79,962,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Prc1
|
UTSW |
7 |
79,962,032 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2857:Prc1
|
UTSW |
7 |
79,961,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4237:Prc1
|
UTSW |
7 |
79,960,964 (GRCm39) |
unclassified |
probably benign |
|
|
R4238:Prc1
|
UTSW |
7 |
79,960,964 (GRCm39) |
unclassified |
probably benign |
|
|
R4240:Prc1
|
UTSW |
7 |
79,960,964 (GRCm39) |
unclassified |
probably benign |
|
|
R4300:Prc1
|
UTSW |
7 |
79,960,964 (GRCm39) |
unclassified |
probably benign |
|
|
R4745:Prc1
|
UTSW |
7 |
79,962,911 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5227:Prc1
|
UTSW |
7 |
79,962,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Prc1
|
UTSW |
7 |
79,944,290 (GRCm39) |
unclassified |
probably benign |
|
|
R6174:Prc1
|
UTSW |
7 |
79,954,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7060:Prc1
|
UTSW |
7 |
79,954,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Prc1
|
UTSW |
7 |
79,960,837 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7266:Prc1
|
UTSW |
7 |
79,957,405 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7491:Prc1
|
UTSW |
7 |
79,959,239 (GRCm39) |
splice site |
probably null |
|
|
R7498:Prc1
|
UTSW |
7 |
79,962,898 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7528:Prc1
|
UTSW |
7 |
79,950,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7911:Prc1
|
UTSW |
7 |
79,954,120 (GRCm39) |
missense |
probably benign |
|
|
R7991:Prc1
|
UTSW |
7 |
79,961,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8079:Prc1
|
UTSW |
7 |
79,954,515 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9635:Prc1
|
UTSW |
7 |
79,962,047 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Prc1
|
UTSW |
7 |
79,956,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGAAGTGATCGGTGTCT -3'
(R):5'- TGTGGCAGCCTTAGCAAACT -3'
Sequencing Primer
(F):5'- TGGAACTCACTGTAAACCTGGCTG -3'
(R):5'- GTGGCAGCCTTAGCAAACTATGATAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation