Incidental Mutation 'R0315:Prc1'
| ID |
25403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prc1
|
| Ensembl Gene |
ENSMUSG00000038943 |
| Gene Name |
protein regulator of cytokinesis 1 |
| Synonyms |
D7Ertd348e |
| MMRRC Submission |
038525-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0315 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79944198-79966007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79963284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 587
(S587P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047362]
[ENSMUST00000047558]
[ENSMUST00000121882]
[ENSMUST00000174172]
[ENSMUST00000174199]
[ENSMUST00000172781]
[ENSMUST00000163812]
[ENSMUST00000173824]
|
| AlphaFold |
Q99K43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047362
|
| SMART Domains |
Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
179 |
228 |
2.9e-17 |
PFAM |
|
Pfam:RCC1_2
|
215 |
244 |
1.3e-10 |
PFAM |
|
Pfam:RCC1
|
231 |
316 |
7.8e-9 |
PFAM |
|
Pfam:RCC1_2
|
303 |
332 |
3.3e-10 |
PFAM |
|
Pfam:RCC1
|
319 |
370 |
4.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047558
|
| SMART Domains |
Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
| 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 |
probably benign
Transcript: ENSMUST00000121882
|
| SMART Domains |
Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
179 |
228 |
7.4e-18 |
PFAM |
|
Pfam:RCC1_2
|
216 |
244 |
5.5e-10 |
PFAM |
|
Pfam:RCC1_2
|
304 |
332 |
6.2e-10 |
PFAM |
|
Pfam:RCC1
|
319 |
370 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148001
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174172
AA Change: S587P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: S587P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
34 |
615 |
2.9e-167 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174051
AA Change: S215P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943
AA Change: S215P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
1 |
244 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174111
AA Change: V99A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174599
AA Change: V43A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174199
|
| SMART Domains |
Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAP65_ASE1
|
7 |
524 |
8.1e-158 |
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 |
probably benign
Transcript: ENSMUST00000163812
|
| SMART Domains |
Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
| 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: ENSMUST00000173824
|
| SMART Domains |
Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943
| 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 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 |
|
| Meta Mutation Damage Score |
0.0749 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.9%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,826,378 (GRCm39) |
R409Q |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,838,347 (GRCm39) |
Q825L |
probably damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,545,667 (GRCm39) |
I107V |
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,457,457 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,441,306 (GRCm39) |
V54I |
possibly damaging |
Het |
| Dpys |
T |
G |
15: 39,720,734 (GRCm39) |
I9L |
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,029 (GRCm39) |
G1400C |
unknown |
Het |
| Gm28042 |
T |
C |
2: 119,869,538 (GRCm39) |
L634P |
probably damaging |
Het |
| Gm6712 |
G |
A |
17: 17,536,380 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
G |
13: 111,573,072 (GRCm39) |
E360A |
possibly damaging |
Het |
| Hmgn1 |
A |
C |
16: 95,926,017 (GRCm39) |
I52R |
probably benign |
Het |
| Ing2 |
A |
C |
8: 48,122,125 (GRCm39) |
M141R |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,196,053 (GRCm39) |
Y563* |
probably null |
Het |
| Lrrc9 |
A |
G |
12: 72,502,802 (GRCm39) |
T258A |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,624 (GRCm39) |
I1699N |
unknown |
Het |
| Map2k5 |
A |
T |
9: 63,210,433 (GRCm39) |
H185Q |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Mroh1 |
C |
T |
15: 76,311,800 (GRCm39) |
A511V |
possibly damaging |
Het |
| Nop53 |
T |
C |
7: 15,679,235 (GRCm39) |
D90G |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,001 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,598 (GRCm39) |
V182D |
possibly damaging |
Het |
| Or5w20 |
A |
T |
2: 87,727,410 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,607,716 (GRCm39) |
S72T |
possibly damaging |
Het |
| Rdh7 |
G |
T |
10: 127,724,265 (GRCm39) |
T73K |
possibly damaging |
Het |
| Runx1 |
T |
C |
16: 92,402,655 (GRCm39) |
N429S |
probably damaging |
Het |
| Skint7 |
G |
A |
4: 111,845,315 (GRCm39) |
A376T |
possibly damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,217 (GRCm39) |
I363V |
possibly damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,634,970 (GRCm39) |
Q350* |
probably null |
Het |
| Soat1 |
T |
A |
1: 156,268,083 (GRCm39) |
K275* |
probably null |
Het |
| Speg |
T |
C |
1: 75,391,780 (GRCm39) |
V1571A |
possibly damaging |
Het |
| Stat5b |
G |
C |
11: 100,679,286 (GRCm39) |
D605E |
probably benign |
Het |
| Susd4 |
G |
A |
1: 182,686,077 (GRCm39) |
R209H |
probably benign |
Het |
| Tlr1 |
T |
G |
5: 65,084,271 (GRCm39) |
D102A |
probably damaging |
Het |
| Tm4sf5 |
A |
G |
11: 70,401,462 (GRCm39) |
N154D |
probably damaging |
Het |
| Tmigd3 |
T |
A |
3: 105,824,085 (GRCm39) |
M18K |
probably damaging |
Het |
| Ube2h |
A |
T |
6: 30,241,412 (GRCm39) |
V86E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,283 (GRCm39) |
L613P |
probably damaging |
Het |
| Vmn2r117 |
G |
A |
17: 23,679,139 (GRCm39) |
S695L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,213,825 (GRCm39) |
D427G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,079,314 (GRCm39) |
F2403I |
probably damaging |
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 |
|
|
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 |
|
R6269:Prc1
|
UTSW |
7 |
79,959,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGCATTAAGTCTGTTGCCAGCACC -3'
(R):5'- AGCCTGAACACGTTACTGTACAAGC -3'
Sequencing Primer
(F):5'- GATCTTCAGTCAGGACAGTGACC -3'
(R):5'- CTTATTTTTGAACCCCAGAACAGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation