Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Rock1'

7952

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

038305-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

10064401-10181792 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10084380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 951 (D951V)

Ref Sequence

ENSEMBL: ENSMUSP00000069549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067947]

AlphaFold

P70335

Predicted Effect

probably damaging
Transcript: ENSMUST00000067947
AA Change: D951V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069549
Gene: ENSMUSG00000024290
AA Change: D951V

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

Meta Mutation Damage Score

0.2346

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,792,403	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
BC037034	T	C	5: 138,260,293		probably null	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Cldnd1	T	A	16: 58,731,259		probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,622,032	K16R	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374		probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10320	T	C	13: 98,489,546	Y110C	probably damaging	Het
Intu	T	C	3: 40,654,272		probably benign	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Txlna	T	G	4: 129,629,086	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,830,636	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het

Other mutations in Rock1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Rock1	APN	18	10080502	missense	probably benign	0.44
IGL01535:Rock1	APN	18	10132119	splice site	probably benign
IGL01751:Rock1	APN	18	10079113	critical splice donor site	probably null
IGL01752:Rock1	APN	18	10079113	critical splice donor site	probably null
IGL02318:Rock1	APN	18	10104323	splice site	probably benign
IGL02420:Rock1	APN	18	10070619	splice site	probably null
IGL03030:Rock1	APN	18	10070215	splice site	probably benign
IGL03339:Rock1	APN	18	10097493	missense	probably benign	0.00
R0010:Rock1	UTSW	18	10084380	missense	probably damaging	0.99
R0041:Rock1	UTSW	18	10140240	missense	probably damaging	1.00
R0041:Rock1	UTSW	18	10140240	missense	probably damaging	1.00
R0480:Rock1	UTSW	18	10079120	missense	possibly damaging	0.92
R0538:Rock1	UTSW	18	10132227	missense	possibly damaging	0.53
R0719:Rock1	UTSW	18	10099328	missense	probably damaging	1.00
R1033:Rock1	UTSW	18	10067535	missense	probably benign	0.12
R1448:Rock1	UTSW	18	10070233	missense	probably damaging	1.00
R1465:Rock1	UTSW	18	10072863	missense	possibly damaging	0.80
R1465:Rock1	UTSW	18	10072863	missense	possibly damaging	0.80
R1470:Rock1	UTSW	18	10136091	splice site	probably null
R1470:Rock1	UTSW	18	10136091	splice site	probably null
R1694:Rock1	UTSW	18	10136094	critical splice donor site	probably null
R1862:Rock1	UTSW	18	10079207	missense	probably damaging	0.99
R1995:Rock1	UTSW	18	10101026	nonsense	probably null
R2177:Rock1	UTSW	18	10070263	missense	probably benign	0.18
R2892:Rock1	UTSW	18	10072863	nonsense	probably null
R3780:Rock1	UTSW	18	10067575	missense	probably benign	0.00
R3884:Rock1	UTSW	18	10122768	missense	probably damaging	1.00
R4352:Rock1	UTSW	18	10079237	missense	probably damaging	1.00
R4414:Rock1	UTSW	18	10080514	missense	probably damaging	1.00
R4646:Rock1	UTSW	18	10112391	missense	probably benign
R4694:Rock1	UTSW	18	10136152	nonsense	probably null
R4888:Rock1	UTSW	18	10122698	missense	probably benign	0.06
R5085:Rock1	UTSW	18	10140210	missense	probably damaging	1.00
R5884:Rock1	UTSW	18	10099361	missense	probably benign	0.03
R5927:Rock1	UTSW	18	10116792	missense	probably damaging	1.00
R6084:Rock1	UTSW	18	10101007	missense	probably benign	0.15
R6151:Rock1	UTSW	18	10106426	missense	possibly damaging	0.79
R6360:Rock1	UTSW	18	10116778	missense	possibly damaging	0.52
R6892:Rock1	UTSW	18	10122612	missense	probably benign	0.00
R7313:Rock1	UTSW	18	10129317	missense	possibly damaging	0.73
R7397:Rock1	UTSW	18	10097599	missense	possibly damaging	0.80
R7488:Rock1	UTSW	18	10122762	missense	probably damaging	1.00
R7515:Rock1	UTSW	18	10067631	missense	probably damaging	0.97
R7567:Rock1	UTSW	18	10090820	missense	probably benign	0.35
R7569:Rock1	UTSW	18	10140194	missense	probably damaging	1.00
R7639:Rock1	UTSW	18	10140244	missense	probably damaging	1.00
R7836:Rock1	UTSW	18	10097651	splice site	probably null
R7844:Rock1	UTSW	18	10104173	missense	probably damaging	0.99
R7943:Rock1	UTSW	18	10112357	missense	probably damaging	1.00
R7945:Rock1	UTSW	18	10116831	missense	probably damaging	1.00
R8421:Rock1	UTSW	18	10072863	nonsense	probably null
R8801:Rock1	UTSW	18	10070260	missense	probably damaging	1.00
R8819:Rock1	UTSW	18	10070626	missense	probably damaging	1.00
R9281:Rock1	UTSW	18	10080479	missense	probably benign	0.02

Posted On

2012-11-20