Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01535:Rock1'

89936

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: 0.957) question?

Stock #

IGL01535

Quality Score

Status

Chromosome

Chromosomal Location

10064401-10182045 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 10132119 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 benign
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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,101,891 (GRCm39)	S654T	probably benign	Het
Brd10	T	C	19: 29,731,212 (GRCm39)	H600R	possibly damaging	Het
Cacnb3	A	T	15: 98,537,469 (GRCm39)	Q49L	probably benign	Het
Dapk1	A	G	13: 60,878,845 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,566,846 (GRCm39)	L1091*	probably null	Het
Epb42	A	G	2: 120,858,169 (GRCm39)	V263A	probably damaging	Het
Fig4	T	G	10: 41,132,490 (GRCm39)	S439R	probably benign	Het
Gatc	A	T	5: 115,479,048 (GRCm39)	V54E	possibly damaging	Het
Hook2	T	C	8: 85,729,618 (GRCm39)	L686P	probably benign	Het
Med12l	A	T	3: 59,169,680 (GRCm39)	T1615S	probably damaging	Het
Msr1	C	T	8: 40,064,714 (GRCm39)	G320D	probably benign	Het
Nbeal1	T	A	1: 60,256,414 (GRCm39)	F220I	probably damaging	Het
Or14j2	T	A	17: 37,885,679 (GRCm39)	I212F	possibly damaging	Het
Or2l5	G	A	16: 19,334,228 (GRCm39)	H53Y	probably benign	Het
Pcdh10	A	T	3: 45,334,078 (GRCm39)	I131F	probably damaging	Het
Phlpp2	A	G	8: 110,660,697 (GRCm39)	E784G	possibly damaging	Het
Prr36	A	T	8: 4,264,043 (GRCm39)		probably benign	Het
Ptprq	G	A	10: 107,535,457 (GRCm39)	S436L	probably benign	Het
Sash1	T	G	10: 8,617,341 (GRCm39)	T522P	probably damaging	Het
Serpinb2	T	C	1: 107,447,503 (GRCm39)		probably null	Het
Supt16	T	C	14: 52,414,647 (GRCm39)	K422E	probably damaging	Het
Syt14	T	G	1: 192,669,073 (GRCm39)	D60A	probably damaging	Het
Tbc1d2b	A	C	9: 90,097,526 (GRCm39)		probably benign	Het
Thsd7b	T	C	1: 129,605,954 (GRCm39)	I565T	possibly damaging	Het
Ttn	A	G	2: 76,564,536 (GRCm39)	Y28534H	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vps13b	A	T	15: 35,455,103 (GRCm39)	N671Y	possibly 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
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
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

2013-12-03