Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Rock1'

32517

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: 0.952) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

10064401-10182045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10084380 bp (GRCm39)

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (89/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,410,607 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aoc1l3	A	T	6: 48,965,840 (GRCm39)	H616L	probably damaging	Het
Bbs7	T	C	3: 36,661,866 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,599,818 (GRCm39)	K1566E	probably damaging	Het
Ccdc73	C	T	2: 104,811,332 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,942,143 (GRCm39)	H124L	probably benign	Het
Cd74	A	T	18: 60,936,968 (GRCm39)		probably benign	Het
Cdk5rap2	T	C	4: 70,161,696 (GRCm39)	E270G	probably benign	Het
Ces2a	G	A	8: 105,468,028 (GRCm39)	D520N	probably benign	Het
Cldnd1	T	A	16: 58,551,622 (GRCm39)		probably benign	Het
Cox17	T	A	16: 38,167,532 (GRCm39)	C24S	possibly damaging	Het
Cyp2b9	T	A	7: 25,886,178 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,803,997 (GRCm39)	L1112P	probably benign	Het
Dennd4c	T	C	4: 86,699,814 (GRCm39)	S222P	probably damaging	Het
Dhx37	T	A	5: 125,508,680 (GRCm39)	Q85L	probably benign	Het
Egfem1	G	T	3: 29,637,068 (GRCm39)	C192F	probably damaging	Het
Eif3f	A	T	7: 108,540,212 (GRCm39)	N336Y	possibly damaging	Het
Evc2	T	A	5: 37,574,793 (GRCm39)	L1016Q	probably damaging	Het
Fam114a2	G	T	11: 57,404,982 (GRCm39)	T40N	probably damaging	Het
Fam135b	T	C	15: 71,493,881 (GRCm39)	K16R	probably damaging	Het
Fcho1	A	G	8: 72,162,643 (GRCm39)	Y725H	probably damaging	Het
Frem1	T	C	4: 82,918,335 (GRCm39)	I536V	probably benign	Het
Galnt2l	G	A	8: 122,997,337 (GRCm39)		probably benign	Het
Ginm1	T	C	10: 7,651,138 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,767,622 (GRCm39)		probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10320	T	C	13: 98,626,054 (GRCm39)	Y110C	probably damaging	Het
Gm3985	A	T	8: 33,432,484 (GRCm39)		noncoding transcript	Het
Gm5422	A	G	10: 31,125,750 (GRCm39)		noncoding transcript	Het
Igkv6-29	A	T	6: 70,115,754 (GRCm39)		probably benign	Het
Inpp5d	G	A	1: 87,625,268 (GRCm39)		probably null	Het
Itpr3	T	G	17: 27,339,951 (GRCm39)	V2610G	probably damaging	Het
Kmt5c	T	A	7: 4,749,207 (GRCm39)	M88K	probably benign	Het
Lrp12	C	T	15: 39,741,672 (GRCm39)	A367T	probably damaging	Het
Ltbp1	A	G	17: 75,670,386 (GRCm39)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Milr1	T	G	11: 106,657,829 (GRCm39)	*209G	probably null	Het
Mitf	A	G	6: 97,784,242 (GRCm39)	K33R	probably benign	Het
Mon2	A	C	10: 122,868,599 (GRCm39)	S485A	probably damaging	Het
Mpdu1	C	T	11: 69,549,667 (GRCm39)	G47R	probably damaging	Het
Ms4a4d	A	G	19: 11,532,190 (GRCm39)	N112S	probably damaging	Het
Mybpc3	G	A	2: 90,965,178 (GRCm39)	W1082*	probably null	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Naa15	A	T	3: 51,343,634 (GRCm39)		probably null	Het
Nav3	A	G	10: 109,659,087 (GRCm39)		probably benign	Het
Nek7	T	A	1: 138,471,942 (GRCm39)	Q66L	possibly damaging	Het
Nktr	G	A	9: 121,570,232 (GRCm39)		probably benign	Het
Nlgn1	G	T	3: 25,490,006 (GRCm39)		probably benign	Het
Npr1	T	C	3: 90,362,139 (GRCm39)	E1002G	probably damaging	Het
Nup133	A	T	8: 124,631,318 (GRCm39)	I1072N	probably damaging	Het
Oc90	C	T	15: 65,748,397 (GRCm39)	C371Y	probably damaging	Het
Or5ak24	A	T	2: 85,260,239 (GRCm39)	D311E	probably benign	Het
Or7g20	A	T	9: 18,946,618 (GRCm39)	L66F	probably damaging	Het
Or8b42	A	T	9: 38,342,216 (GRCm39)	I213F	possibly damaging	Het
Pradc1	A	T	6: 85,424,213 (GRCm39)	N44K	probably damaging	Het
Pradc1	T	C	6: 85,424,602 (GRCm39)	D116G	probably damaging	Het
Ptprk	G	A	10: 28,461,965 (GRCm39)	C91Y	probably damaging	Het
Pus7	T	C	5: 23,952,843 (GRCm39)	I491V	probably benign	Het
Scgb2b26	T	A	7: 33,643,774 (GRCm39)	E55D	probably damaging	Het
Scn8a	T	C	15: 100,911,454 (GRCm39)	V958A	probably damaging	Het
Sec14l1	T	C	11: 117,034,596 (GRCm39)		probably benign	Het
Sec24c	A	G	14: 20,739,329 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,431,105 (GRCm39)	E853K	probably benign	Het
Sgk1	G	A	10: 21,873,337 (GRCm39)		probably null	Het
Shprh	C	T	10: 11,027,675 (GRCm39)	T94I	probably benign	Het
Slc16a3	T	C	11: 120,847,531 (GRCm39)	S240P	probably benign	Het
Slc5a8	T	C	10: 88,722,452 (GRCm39)	V95A	probably benign	Het
Smg1	A	T	7: 117,771,082 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,045,509 (GRCm39)	V1556I	probably benign	Het
Trappc14	T	C	5: 138,258,555 (GRCm39)		probably null	Het
Trappc4	G	A	9: 44,316,528 (GRCm39)		probably benign	Het
Tubgcp6	A	G	15: 88,987,386 (GRCm39)	S1188P	probably benign	Het
Txlna	T	G	4: 129,522,879 (GRCm39)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,978,502 (GRCm39)	F51S	possibly damaging	Het
Vmn2r6	G	A	3: 64,466,966 (GRCm39)	Q178*	probably null	Het
Wdfy3	T	C	5: 101,996,215 (GRCm39)	T3234A	probably damaging	Het
Ylpm1	C	A	12: 85,075,800 (GRCm39)	Q384K	probably damaging	Het
Zbtb41	T	G	1: 139,351,268 (GRCm39)	V127G	probably damaging	Het
Zfp605	T	A	5: 110,275,400 (GRCm39)	C173S	probably benign	Het
Zfp608	A	T	18: 55,028,286 (GRCm39)		probably benign	Het
Zhx2	T	C	15: 57,684,670 (GRCm39)	V13A	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
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
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

Predicted Primers

Posted On

2013-05-09