Incidental Mutation 'IGL01751:Rock1'
| ID |
278831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rock1
|
| Ensembl Gene |
ENSMUSG00000024290 |
| Gene Name |
Rho-associated coiled-coil containing protein kinase 1 |
| Synonyms |
1110055K06Rik, Rock-I |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL01751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
10064401-10182045 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 10079113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067947]
|
| AlphaFold |
P70335 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067947
|
| SMART Domains |
Protein: ENSMUSP00000069549
Gene: ENSMUSG00000024290
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
76 |
338 |
4.07e-97 |
SMART |
|
S_TK_X
|
341 |
401 |
4.02e-9 |
SMART |
|
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
|
PDB:3O0Z|D
|
535 |
700 |
1e-101 |
PDB |
|
low complexity region
|
715 |
731 |
N/A |
INTRINSIC |
|
PDB:4L2W|B
|
832 |
914 |
7e-28 |
PDB |
|
Pfam:Rho_Binding
|
948 |
1014 |
4.3e-26 |
PFAM |
|
PH
|
1119 |
1319 |
1.19e-6 |
SMART |
|
C1
|
1229 |
1283 |
2.64e-10 |
SMART |
|
| Coding Region Coverage |
|
| 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 serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have open eyes at birth, omphalocele and most die soon after birth as a result of cannibalization by the mom. Survivors develop inflammation of the eyelid. Another homozygous mutant shows partial lethality around implantation and reduced cardiac fibrosis after pressure overload. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,979,981 (GRCm39) |
|
probably null |
Het |
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,522 (GRCm39) |
H174L |
possibly damaging |
Het |
| Auts2 |
G |
T |
5: 131,501,198 (GRCm39) |
Q72K |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,049 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,342,372 (GRCm39) |
E1555G |
probably benign |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
A |
G |
1: 16,840,208 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6605 |
T |
C |
7: 38,147,630 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin3 |
T |
A |
7: 106,201,516 (GRCm39) |
N576I |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,065,130 (GRCm39) |
D638G |
probably damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,039,014 (GRCm39) |
N887I |
probably damaging |
Het |
| Itpkc |
G |
A |
7: 26,912,491 (GRCm39) |
|
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,786,403 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
T |
11: 105,216,560 (GRCm39) |
L116F |
probably benign |
Het |
| Necab1 |
T |
C |
4: 14,978,171 (GRCm39) |
D226G |
probably damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,811 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or14c39 |
A |
T |
7: 86,343,997 (GRCm39) |
Q111L |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5d43 |
A |
T |
2: 88,104,977 (GRCm39) |
C139S |
possibly damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,291,596 (GRCm39) |
M1717L |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,719,812 (GRCm39) |
D903G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ttll9 |
A |
T |
2: 152,825,025 (GRCm39) |
N68I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,567,943 (GRCm39) |
V25904A |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,139 (GRCm39) |
V507M |
probably damaging |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
|
| Other mutations in Rock1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Rock1
|
APN |
18 |
10,080,502 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01535:Rock1
|
APN |
18 |
10,132,119 (GRCm39) |
splice site |
probably benign |
|
|
IGL01752:Rock1
|
APN |
18 |
10,079,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02318:Rock1
|
APN |
18 |
10,104,323 (GRCm39) |
splice site |
probably benign |
|
|
IGL02420:Rock1
|
APN |
18 |
10,070,619 (GRCm39) |
splice site |
probably null |
|
|
IGL03030:Rock1
|
APN |
18 |
10,070,215 (GRCm39) |
splice site |
probably benign |
|
|
IGL03339:Rock1
|
APN |
18 |
10,097,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0010:Rock1
|
UTSW |
18 |
10,084,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0010:Rock1
|
UTSW |
18 |
10,084,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0041:Rock1
|
UTSW |
18 |
10,140,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0041:Rock1
|
UTSW |
18 |
10,140,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Rock1
|
UTSW |
18 |
10,079,120 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0538:Rock1
|
UTSW |
18 |
10,132,227 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0719:Rock1
|
UTSW |
18 |
10,099,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1033:Rock1
|
UTSW |
18 |
10,067,535 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1448:Rock1
|
UTSW |
18 |
10,070,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Rock1
|
UTSW |
18 |
10,072,863 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1465:Rock1
|
UTSW |
18 |
10,072,863 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1470:Rock1
|
UTSW |
18 |
10,136,091 (GRCm39) |
splice site |
probably null |
|
|
R1470:Rock1
|
UTSW |
18 |
10,136,091 (GRCm39) |
splice site |
probably null |
|
|
R1694:Rock1
|
UTSW |
18 |
10,136,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1862:Rock1
|
UTSW |
18 |
10,079,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1995:Rock1
|
UTSW |
18 |
10,101,026 (GRCm39) |
nonsense |
probably null |
|
|
R2177:Rock1
|
UTSW |
18 |
10,070,263 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2892:Rock1
|
UTSW |
18 |
10,072,863 (GRCm39) |
nonsense |
probably null |
|
|
R3780:Rock1
|
UTSW |
18 |
10,067,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3884:Rock1
|
UTSW |
18 |
10,122,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Rock1
|
UTSW |
18 |
10,079,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4414:Rock1
|
UTSW |
18 |
10,080,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Rock1
|
UTSW |
18 |
10,112,391 (GRCm39) |
missense |
probably benign |
|
|
R4694:Rock1
|
UTSW |
18 |
10,136,152 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Rock1
|
UTSW |
18 |
10,122,698 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5085:Rock1
|
UTSW |
18 |
10,140,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5884:Rock1
|
UTSW |
18 |
10,099,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5927:Rock1
|
UTSW |
18 |
10,116,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Rock1
|
UTSW |
18 |
10,101,007 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6151:Rock1
|
UTSW |
18 |
10,106,426 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6360:Rock1
|
UTSW |
18 |
10,116,778 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6892:Rock1
|
UTSW |
18 |
10,122,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Rock1
|
UTSW |
18 |
10,129,317 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7397:Rock1
|
UTSW |
18 |
10,097,599 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7488:Rock1
|
UTSW |
18 |
10,122,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Rock1
|
UTSW |
18 |
10,067,631 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7567:Rock1
|
UTSW |
18 |
10,090,820 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7569:Rock1
|
UTSW |
18 |
10,140,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7639:Rock1
|
UTSW |
18 |
10,140,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Rock1
|
UTSW |
18 |
10,097,651 (GRCm39) |
splice site |
probably null |
|
|
R7844:Rock1
|
UTSW |
18 |
10,104,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7943:Rock1
|
UTSW |
18 |
10,112,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7945:Rock1
|
UTSW |
18 |
10,116,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Rock1
|
UTSW |
18 |
10,072,863 (GRCm39) |
nonsense |
probably null |
|
|
R8801:Rock1
|
UTSW |
18 |
10,070,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Rock1
|
UTSW |
18 |
10,070,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9281:Rock1
|
UTSW |
18 |
10,080,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation