Mutagenetix > Incidental Mutation

Incidental Mutation 'R7836:Rock1'

628547

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

045890-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10064401-10182045 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 10097651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069549 (fasta)

Gene Model

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

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,984,203 (GRCm39)	S644R	probably benign	Het
Adra2a	A	G	19: 54,034,659 (GRCm39)	E5G	probably benign	Het
Ankrd1	A	T	19: 36,092,922 (GRCm39)	V201D	possibly damaging	Het
Ano9	A	T	7: 140,683,114 (GRCm39)	V598E	probably damaging	Het
Apob	T	A	12: 8,051,885 (GRCm39)	M1150K	possibly damaging	Het
BC005624	A	T	2: 30,864,032 (GRCm39)	I187N	probably damaging	Het
Bltp3b	C	T	10: 89,651,968 (GRCm39)	T1381I	probably benign	Het
Ccl9	T	C	11: 83,467,257 (GRCm39)	E31G	probably benign	Het
Cnnm4	T	A	1: 36,511,019 (GRCm39)	D82E	probably benign	Het
Coq10b	T	C	1: 55,092,013 (GRCm39)		probably benign	Het
Cplane1	T	G	15: 8,233,241 (GRCm39)	F1189V	probably damaging	Het
Cyb561	T	C	11: 105,830,935 (GRCm39)	N50S	probably benign	Het
Dctn4	G	T	18: 60,679,348 (GRCm39)	A223S	probably benign	Het
Dysf	A	G	6: 84,114,380 (GRCm39)	Y1223C	probably damaging	Het
Eed	C	T	7: 89,630,022 (GRCm39)		probably benign	Het
Eef1g	T	A	19: 8,954,738 (GRCm39)	V305E	probably benign	Het
Eif4ebp2	C	A	10: 61,270,772 (GRCm39)	A86S	probably benign	Het
Ermp1	T	C	19: 29,609,788 (GRCm39)		probably null	Het
Hid1	T	C	11: 115,249,821 (GRCm39)	Y198C	probably damaging	Het
Hoxd1	C	A	2: 74,593,816 (GRCm39)	A124E	probably benign	Het
Hyal5	G	A	6: 24,891,347 (GRCm39)	C387Y	probably damaging	Het
Il11	A	G	7: 4,778,999 (GRCm39)	S103P	probably damaging	Het
Lgalsl2	A	T	7: 5,362,507 (GRCm39)	K46M	probably damaging	Het
Lmtk3	A	C	7: 45,436,327 (GRCm39)	I128L	possibly damaging	Het
Lrrc4b	G	T	7: 44,094,316 (GRCm39)		probably benign	Het
Magel2	T	A	7: 62,028,116 (GRCm39)	I340N	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,200 (GRCm39)	F71I	possibly damaging	Het
Mgarp	A	G	3: 51,296,487 (GRCm39)	S172P	probably benign	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Naa15	G	T	3: 51,370,688 (GRCm39)	E651*	probably null	Het
Ndfip2	T	C	14: 105,529,675 (GRCm39)	V168A	probably benign	Het
Neb	C	A	2: 52,113,373 (GRCm39)		probably null	Het
Nfil3	A	G	13: 53,121,968 (GRCm39)	V312A	possibly damaging	Het
Nrap	T	C	19: 56,338,729 (GRCm39)	I953V	probably benign	Het
Ntrk1	T	A	3: 87,687,041 (GRCm39)	K706*	probably null	Het
Nuf2	A	T	1: 169,352,898 (GRCm39)	F36I	probably benign	Het
Or51h7	T	A	7: 102,591,125 (GRCm39)	T220S	possibly damaging	Het
Or5aq7	T	C	2: 86,937,861 (GRCm39)	Y290C	probably damaging	Het
Pcdh8	T	G	14: 80,006,101 (GRCm39)	T821P	possibly damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ptch2	C	A	4: 116,962,224 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,081,719 (GRCm39)	I50V	probably benign	Het
Pth2r	G	T	1: 65,390,722 (GRCm39)	W292L	probably damaging	Het
Ptprd	G	A	4: 75,900,881 (GRCm39)	T825M	probably damaging	Het
Ptprk	T	C	10: 28,449,385 (GRCm39)	Y987H	probably damaging	Het
Qser1	T	C	2: 104,606,579 (GRCm39)	E1470G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,232 (GRCm39)	E307G	possibly damaging	Het
Rims2	A	G	15: 39,544,475 (GRCm39)	Y1484C	probably damaging	Het
Slc15a1	T	A	14: 121,718,145 (GRCm39)	K245*	probably null	Het
Snx11	T	A	11: 96,660,032 (GRCm39)	E219V	possibly damaging	Het
Sox21	C	A	14: 118,472,729 (GRCm39)	E107*	probably null	Het
Spink5	T	A	18: 44,132,888 (GRCm39)	H501Q	probably benign	Het
Stard5	C	T	7: 83,285,984 (GRCm39)	T103M	probably damaging	Het
Stfa2l1	A	T	16: 35,977,203 (GRCm39)		probably benign	Het
Sult1c2	A	C	17: 54,271,076 (GRCm39)	V185G	probably damaging	Het
Svs5	A	G	2: 164,079,500 (GRCm39)	S136P	possibly damaging	Het
Sytl3	T	A	17: 6,982,774 (GRCm39)		probably null	Het
Tc2n	C	T	12: 101,619,112 (GRCm39)	V349I	possibly damaging	Het
Tln1	A	G	4: 43,554,309 (GRCm39)	V271A	probably benign	Het
Tmem260	T	A	14: 48,746,519 (GRCm39)	S446R	probably benign	Het
Trim30a	T	C	7: 104,084,802 (GRCm39)	D136G	probably benign	Het
Ulk4	A	T	9: 120,873,885 (GRCm39)	I1182N	possibly damaging	Het
Unc50	T	G	1: 37,476,377 (GRCm39)	I179S	possibly damaging	Het
Upb1	T	A	10: 75,248,667 (GRCm39)	Y57*	probably null	Het
Usp34	C	T	11: 23,396,614 (GRCm39)	T2349I		Het
Vmn1r71	A	G	7: 10,482,277 (GRCm39)	V137A	possibly damaging	Het
Vmn1r85	T	C	7: 12,818,698 (GRCm39)	I149V	probably benign	Het
Vmn2r118	A	G	17: 55,900,242 (GRCm39)	L554P	probably damaging	Het
Wdr4	C	G	17: 31,718,782 (GRCm39)		probably null	Het
Zbbx	A	T	3: 74,985,781 (GRCm39)	S424T	possibly damaging	Het
Zfp207	C	G	11: 80,282,726 (GRCm39)	P246A	probably damaging	Het
Zfp414	T	A	17: 33,848,962 (GRCm39)	Y65*	probably null	Het
Zfp600	T	A	4: 146,133,523 (GRCm39)	N730K	probably benign	Het
Zfp827	T	C	8: 79,912,979 (GRCm39)	L1073P	probably damaging	Het
Zfp986	A	G	4: 145,625,691 (GRCm39)	K117R	possibly damaging	Het
Zgrf1	T	A	3: 127,357,080 (GRCm39)	Y769N	probably damaging	Het
Zup1	A	T	10: 33,795,315 (GRCm39)	I547N	unknown	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
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
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'- AGCACAGTGTCTTACTTCATCC -3'
(R):5'- TCCAGACCAGTGCAAGATAGAG -3'

Sequencing Primer
(F):5'- ACAGTGTCTTACTTCATCCTCCATC -3'
(R):5'- ACCCTCAATCCTCTAGTTTAAATGG -3'

Posted On

2020-04-28