Incidental Mutation 'R6892:Rock1'
| ID |
538134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rock1
|
| Ensembl Gene |
ENSMUSG00000024290 |
| Gene Name |
Rho-associated coiled-coil containing protein kinase 1 |
| Synonyms |
1110055K06Rik, Rock-I |
| MMRRC Submission |
044986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R6892 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
10064401-10182045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10122612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 403
(R403H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067947]
|
| AlphaFold |
P70335 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067947
AA Change: R403H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000069549
Gene: ENSMUSG00000024290
AA Change: R403H
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
96% (54/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930442H23Rik |
C |
A |
10: 81,018,978 (GRCm39) |
|
probably benign |
Het |
| 4933421I07Rik |
T |
C |
7: 42,095,831 (GRCm39) |
Q139R |
probably benign |
Het |
| A930002H24Rik |
C |
T |
17: 64,170,759 (GRCm39) |
V10M |
unknown |
Het |
| Acvr2a |
T |
A |
2: 48,787,087 (GRCm39) |
L394Q |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,865,505 (GRCm39) |
Y830H |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,184,922 (GRCm39) |
I914F |
possibly damaging |
Het |
| Bltp3b |
G |
A |
10: 89,640,985 (GRCm39) |
V719I |
probably benign |
Het |
| Cab39 |
A |
G |
1: 85,776,098 (GRCm39) |
D265G |
probably damaging |
Het |
| Capn5 |
A |
T |
7: 97,785,148 (GRCm39) |
W109R |
probably damaging |
Het |
| Cdk18 |
G |
T |
1: 132,049,848 (GRCm39) |
T44K |
probably benign |
Het |
| Cdt1 |
T |
A |
8: 123,296,951 (GRCm39) |
N248K |
probably damaging |
Het |
| Cpa4 |
G |
T |
6: 30,583,628 (GRCm39) |
R248L |
probably benign |
Het |
| Cpt1a |
G |
A |
19: 3,421,660 (GRCm39) |
V481M |
probably benign |
Het |
| Cyp3a11 |
G |
A |
5: 145,797,258 (GRCm39) |
L374F |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,240,443 (GRCm39) |
N64D |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,053,969 (GRCm39) |
R2525Q |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,595,128 (GRCm39) |
V744M |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,605,335 (GRCm39) |
E2391K |
probably benign |
Het |
| Ezh1 |
A |
T |
11: 101,090,187 (GRCm39) |
Y522* |
probably null |
Het |
| Fzd3 |
G |
C |
14: 65,447,330 (GRCm39) |
A533G |
possibly damaging |
Het |
| Gm14403 |
T |
G |
2: 177,201,040 (GRCm39) |
C329G |
probably damaging |
Het |
| Gm17067 |
A |
C |
7: 42,360,099 (GRCm39) |
|
probably null |
Het |
| Gm38119 |
A |
G |
3: 92,645,529 (GRCm39) |
C22R |
unknown |
Het |
| Grep1 |
A |
G |
17: 23,931,328 (GRCm39) |
L193P |
probably damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,455,100 (GRCm39) |
S588P |
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,239,520 (GRCm39) |
E59G |
possibly damaging |
Het |
| Ints1 |
A |
T |
5: 139,753,583 (GRCm39) |
M683K |
probably damaging |
Het |
| Iws1 |
A |
G |
18: 32,219,327 (GRCm39) |
M470V |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,159,831 (GRCm39) |
R46G |
probably benign |
Het |
| Nhsl1 |
C |
T |
10: 18,400,091 (GRCm39) |
T439I |
probably damaging |
Het |
| Or10a49 |
A |
G |
7: 108,467,722 (GRCm39) |
L213P |
probably damaging |
Het |
| Peg3 |
C |
T |
7: 6,711,898 (GRCm39) |
S1108N |
possibly damaging |
Het |
| Pgm1 |
A |
G |
4: 99,786,905 (GRCm39) |
E48G |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,593,739 (GRCm39) |
T1458I |
probably damaging |
Het |
| Polr1a |
A |
T |
6: 71,941,696 (GRCm39) |
D1068V |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,411,865 (GRCm39) |
T1834A |
probably benign |
Het |
| Rapgef1 |
T |
C |
2: 29,589,852 (GRCm39) |
|
probably null |
Het |
| Rgl1 |
A |
T |
1: 152,415,691 (GRCm39) |
D409E |
probably benign |
Het |
| Rgsl1 |
G |
T |
1: 153,697,245 (GRCm39) |
Y558* |
probably null |
Het |
| Scn11a |
T |
A |
9: 119,636,035 (GRCm39) |
D304V |
possibly damaging |
Het |
| Sdk1 |
A |
T |
5: 142,032,053 (GRCm39) |
I1043F |
probably benign |
Het |
| Sgms2 |
A |
G |
3: 131,135,803 (GRCm39) |
Y24H |
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,755,495 (GRCm39) |
I372T |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,092,187 (GRCm39) |
M526T |
probably benign |
Het |
| Stxbp5l |
A |
T |
16: 37,008,991 (GRCm39) |
S683T |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,786,934 (GRCm39) |
R332S |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,009,302 (GRCm39) |
V2401E |
probably damaging |
Het |
| Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,814,864 (GRCm39) |
K378E |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,844,083 (GRCm39) |
T20A |
probably benign |
Het |
| Tor1aip2 |
A |
T |
1: 155,940,927 (GRCm39) |
Y411F |
possibly damaging |
Het |
| Trim43c |
T |
A |
9: 88,726,977 (GRCm39) |
M267K |
probably benign |
Het |
| Ubr2 |
T |
G |
17: 47,245,034 (GRCm39) |
Y1664S |
probably damaging |
Het |
| Vmn1r41 |
C |
A |
6: 89,724,163 (GRCm39) |
Q235K |
possibly damaging |
Het |
| Wdr17 |
T |
C |
8: 55,126,631 (GRCm39) |
T401A |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,764,025 (GRCm39) |
L469P |
probably damaging |
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 |
|
|
IGL01751:Rock1
|
APN |
18 |
10,079,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTATTTTCACTTGAAGATATGCCA -3'
(R):5'- GCTTTGTGCCACTTTATTTGTATACT -3'
Sequencing Primer
(F):5'- AGAGGCCCTGAGTTCAATTC -3'
(R):5'- TAGCTGTAGCACCAGTTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation