Mutagenetix > Incidental Mutations

Incidental Mutation 'R7011:Ros1'

545029

Institutional Source

Beutler Lab

Gene Symbol

Ros1

Ensembl Gene

ENSMUSG00000019893

Gene Name

Ros1 proto-oncogene

Synonyms

Ros-1, c-ros

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52045721-52195244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52180176 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 73 (C73S)

Ref Sequence

ENSEMBL: ENSMUSP00000151932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020045] [ENSMUST00000218452] [ENSMUST00000219173] [ENSMUST00000219692]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020045
AA Change: C73S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020045
Gene: ENSMUSG00000019893
AA Change: C73S

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
FN3	109	187	1.05e-4	SMART
FN3	205	282	7.45e-10	SMART
LY	369	409	9.17e0	SMART
FN3	568	654	2.24e-4	SMART
LY	734	776	2.28e1	SMART
LY	777	815	4.61e0	SMART
FN3	944	1023	5.53e-4	SMART
FN3	1037	1133	1.07e1	SMART
FN3	1440	1532	1.19e1	SMART
FN3	1551	1637	2.11e0	SMART
FN3	1649	1731	6.8e-4	SMART
FN3	1746	1832	2.7e1	SMART
TyrKc	1938	2208	1.3e-145	SMART
low complexity region	2294	2307	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000218452
AA Change: C73S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219173
AA Change: C73S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219692
AA Change: C73S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5181

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit male infertility due to impaired sperm maturation in the epididymis. Mutant sperm are capable of fertilization in vitro but not in vivo. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,143,018	P886S	probably benign	Het
Anapc1	C	T	2: 128,648,681		probably null	Het
Ankrd34c	C	A	9: 89,728,948	G447*	probably null	Het
Apbb1ip	A	T	2: 22,835,931	E238D	probably damaging	Het
Arfgap1	T	C	2: 180,972,142	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,848,878	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,318,466	Q679K	probably benign	Het
Btnl2	A	G	17: 34,363,513	E351G	probably damaging	Het
Cd209f	T	A	8: 4,104,859	T80S	probably benign	Het
Cdc16	A	G	8: 13,769,451	E349G	probably damaging	Het
Cfap53	A	T	18: 74,329,493	D436V	probably benign	Het
Crhr2	A	T	6: 55,099,210		probably null	Het
Cux1	T	C	5: 136,360,033	K226E	probably damaging	Het
Ddr2	A	T	1: 169,982,103	D768E	probably damaging	Het
Dhx8	T	C	11: 101,741,520	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,922,018		probably null	Het
Eif4ebp1	G	A	8: 27,273,344	R55Q	probably damaging	Het
Fbxo18	T	A	2: 11,762,963	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,188,794	E304D	probably benign	Het
Gabrb2	T	C	11: 42,626,661	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gprin2	G	T	14: 34,195,436	H126N	probably null	Het
Gucy1a1	A	G	3: 82,109,115	S189P	probably damaging	Het
Htr1d	T	C	4: 136,443,006	M182T	probably benign	Het
Lipc	A	G	9: 70,818,954	F73L	probably benign	Het
Liph	A	G	16: 21,984,097	I74T	probably damaging	Het
Lrif1	T	G	3: 106,732,285	Y229D	probably damaging	Het
Magel2	C	T	7: 62,378,533	T395I	possibly damaging	Het
Magi3	T	C	3: 104,105,754	N139S	probably damaging	Het
Man2c1	T	A	9: 57,137,833	V336E	probably damaging	Het
Mapk12	A	T	15: 89,135,600	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,289,396		probably benign	Het
Mast1	A	T	8: 84,911,945	Y653*	probably null	Het
Muc16	T	A	9: 18,637,451	I5849F	probably benign	Het
Muc16	T	A	9: 18,637,543	H5818L	probably benign	Het
Ndufa10	A	G	1: 92,470,859	S68P	probably damaging	Het
Nedd1	C	A	10: 92,690,773	L503F	probably benign	Het
Nr1i3	A	G	1: 171,214,358	M4V	probably benign	Het
Olfr1121	G	A	2: 87,372,260	A243T	possibly damaging	Het
Olfr1307	A	T	2: 111,944,686	F257I	probably benign	Het
Olfr1501	T	C	19: 13,839,039	I45V	probably benign	Het
Olfr332	T	A	11: 58,490,144	I204F	possibly damaging	Het
Papd7	C	T	13: 69,500,080	G489S	probably damaging	Het
Pcdh18	A	T	3: 49,754,782	S695T	probably benign	Het
Pcdha1	T	C	18: 36,930,535	I84T	probably damaging	Het
Plek	T	A	11: 16,994,760	D90V	possibly damaging	Het
Ppp6r1	A	G	7: 4,646,826	C47R	probably damaging	Het
Psg27	G	C	7: 18,556,873	N468K	probably benign	Het
Ptchd4	G	A	17: 42,503,868	E887K	probably benign	Het
Rabgap1	C	T	2: 37,540,480	L678F	probably damaging	Het
Rmdn3	T	C	2: 119,138,423	Y429C	probably damaging	Het
Rtkn2	G	A	10: 67,979,665		probably benign	Het
Slc25a42	A	G	8: 70,186,702	S242P	probably damaging	Het
Smtnl1	T	A	2: 84,818,409	D167V	probably benign	Het
Smurf2	A	G	11: 106,833,784	L511P	probably benign	Het
Stbd1	A	T	5: 92,605,118	K156*	probably null	Het
Tenm4	G	T	7: 96,896,135	G2453*	probably null	Het
Tpr	A	G	1: 150,433,772	K1760E	probably damaging	Het
Triobp	T	A	15: 78,978,723	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,870,368	E679G	probably damaging	Het
Ucn3	T	G	13: 3,941,421	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,071,091	D998V	probably damaging	Het
Xrcc3	A	G	12: 111,804,535	V320A	probably damaging	Het
Zdbf2	A	G	1: 63,306,766	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,186,433	H259N	possibly damaging	Het
Zfp619	A	T	7: 39,537,762	H1072L	probably damaging	Het
Zfy2	T	A	Y: 2,107,127	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,521,987	P472L	probably benign	Het

Other mutations in Ros1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ros1	APN	10	52194890	missense	probably benign	0.01
IGL00338:Ros1	APN	10	52125811	missense	probably benign
IGL00419:Ros1	APN	10	52091054	missense	probably damaging	0.97
IGL00840:Ros1	APN	10	52144873	missense	possibly damaging	0.92
IGL00841:Ros1	APN	10	52144873	missense	possibly damaging	0.92
IGL00951:Ros1	APN	10	52143252	missense	probably damaging	0.99
IGL01123:Ros1	APN	10	52120809	missense	probably damaging	1.00
IGL01128:Ros1	APN	10	52142328	nonsense	probably null
IGL01300:Ros1	APN	10	52101713	missense	probably benign	0.01
IGL01316:Ros1	APN	10	52087879	critical splice donor site	probably null
IGL01349:Ros1	APN	10	52051026	missense	probably damaging	0.99
IGL01363:Ros1	APN	10	52166142	missense	probably damaging	1.00
IGL01457:Ros1	APN	10	52046330	splice site	probably benign
IGL01532:Ros1	APN	10	52090938	splice site	probably benign
IGL01585:Ros1	APN	10	52155102	missense	probably damaging	1.00
IGL01650:Ros1	APN	10	52154979	missense	probably damaging	0.99
IGL01672:Ros1	APN	10	52101803	missense	possibly damaging	0.92
IGL01904:Ros1	APN	10	52077911	missense	probably damaging	0.97
IGL02040:Ros1	APN	10	52115922	missense	probably damaging	0.99
IGL02053:Ros1	APN	10	52162720	missense	probably damaging	1.00
IGL02147:Ros1	APN	10	52120895	missense	probably damaging	1.00
IGL02169:Ros1	APN	10	52081957	critical splice donor site	probably null
IGL02247:Ros1	APN	10	52129581	missense	probably damaging	0.99
IGL02262:Ros1	APN	10	52178969	missense	probably damaging	0.96
IGL02307:Ros1	APN	10	52128438	missense	possibly damaging	0.53
IGL02398:Ros1	APN	10	52144884	splice site	probably benign
IGL02525:Ros1	APN	10	52116042	missense	possibly damaging	0.66
IGL02718:Ros1	APN	10	52118232	missense	probably damaging	1.00
IGL02721:Ros1	APN	10	52172831	splice site	probably benign
IGL02808:Ros1	APN	10	52125889	missense	probably damaging	1.00
IGL03009:Ros1	APN	10	52145907	missense	probably benign	0.00
IGL03035:Ros1	APN	10	52075984	splice site	probably benign
IGL03092:Ros1	APN	10	52098806	missense	probably damaging	0.99
IGL03309:Ros1	APN	10	52118261	missense	possibly damaging	0.83
IGL03333:Ros1	APN	10	52155171	missense	probably damaging	1.00
R0049:Ros1	UTSW	10	52101761	missense	possibly damaging	0.66
R0049:Ros1	UTSW	10	52101761	missense	possibly damaging	0.66
R0050:Ros1	UTSW	10	52101803	missense	probably damaging	0.97
R0050:Ros1	UTSW	10	52101803	missense	probably damaging	0.97
R0057:Ros1	UTSW	10	52180191	missense	probably benign	0.00
R0057:Ros1	UTSW	10	52180191	missense	probably benign	0.00
R0106:Ros1	UTSW	10	52142267	missense	possibly damaging	0.85
R0106:Ros1	UTSW	10	52142267	missense	possibly damaging	0.85
R0125:Ros1	UTSW	10	52125789	missense	probably benign	0.38
R0403:Ros1	UTSW	10	52143438	splice site	probably benign
R0487:Ros1	UTSW	10	52155108	missense	possibly damaging	0.69
R0502:Ros1	UTSW	10	52194823	splice site	probably benign
R0557:Ros1	UTSW	10	52085263	missense	possibly damaging	0.82
R0599:Ros1	UTSW	10	52123300	missense	probably damaging	1.00
R0620:Ros1	UTSW	10	52118348	missense	probably damaging	1.00
R0679:Ros1	UTSW	10	52066295	missense	possibly damaging	0.95
R1005:Ros1	UTSW	10	52128405	splice site	probably benign
R1073:Ros1	UTSW	10	52046125	missense	probably damaging	1.00
R1220:Ros1	UTSW	10	52098870	missense	probably damaging	0.97
R1279:Ros1	UTSW	10	52142166	missense	possibly damaging	0.81
R1295:Ros1	UTSW	10	52087932	missense	possibly damaging	0.92
R1336:Ros1	UTSW	10	52168662	missense	probably damaging	1.00
R1371:Ros1	UTSW	10	52087945	missense	probably damaging	0.98
R1447:Ros1	UTSW	10	52098858	missense	possibly damaging	0.66
R1486:Ros1	UTSW	10	52172858	missense	probably damaging	1.00
R1499:Ros1	UTSW	10	52098677	missense	possibly damaging	0.92
R1669:Ros1	UTSW	10	52161811	missense	probably damaging	1.00
R1744:Ros1	UTSW	10	52123379	missense	probably damaging	0.99
R1759:Ros1	UTSW	10	52120826	missense	probably damaging	1.00
R1791:Ros1	UTSW	10	52100087	missense	probably benign	0.00
R1794:Ros1	UTSW	10	52124103	nonsense	probably null
R2031:Ros1	UTSW	10	52067068	missense	possibly damaging	0.88
R2115:Ros1	UTSW	10	52128555	missense	probably benign	0.00
R2219:Ros1	UTSW	10	52166079	missense	probably damaging	1.00
R2290:Ros1	UTSW	10	52118381	missense	probably damaging	0.96
R2329:Ros1	UTSW	10	52162887	missense	probably damaging	1.00
R2371:Ros1	UTSW	10	52163895	missense	possibly damaging	0.66
R2879:Ros1	UTSW	10	52172840	critical splice donor site	probably null
R3154:Ros1	UTSW	10	52050981	missense	probably benign
R3423:Ros1	UTSW	10	52128416	unclassified	probably null
R3424:Ros1	UTSW	10	52128416	unclassified	probably null
R3425:Ros1	UTSW	10	52128416	unclassified	probably null
R3433:Ros1	UTSW	10	52091108	missense	probably benign	0.45
R3522:Ros1	UTSW	10	52090995	nonsense	probably null
R3686:Ros1	UTSW	10	52145816	missense	probably damaging	1.00
R3710:Ros1	UTSW	10	52161895	nonsense	probably null
R3771:Ros1	UTSW	10	52128991	missense	probably damaging	0.97
R3808:Ros1	UTSW	10	52120848	missense	probably benign	0.08
R3930:Ros1	UTSW	10	52194848	missense	possibly damaging	0.92
R3950:Ros1	UTSW	10	52066388	missense	probably damaging	1.00
R3981:Ros1	UTSW	10	52120878	missense	possibly damaging	0.46
R4007:Ros1	UTSW	10	52118232	missense	probably damaging	1.00
R4346:Ros1	UTSW	10	52168609	missense	possibly damaging	0.92
R4382:Ros1	UTSW	10	52120959	missense	possibly damaging	0.46
R4414:Ros1	UTSW	10	52162704	critical splice donor site	probably null
R4450:Ros1	UTSW	10	52077942	missense	probably damaging	0.98
R4468:Ros1	UTSW	10	52118356	missense	probably damaging	1.00
R4569:Ros1	UTSW	10	52163994	missense	probably damaging	0.99
R4649:Ros1	UTSW	10	52129668	missense	possibly damaging	0.66
R4684:Ros1	UTSW	10	52129096	missense	probably damaging	1.00
R4706:Ros1	UTSW	10	52101894	missense	possibly damaging	0.95
R4731:Ros1	UTSW	10	52142229	missense	probably damaging	1.00
R4748:Ros1	UTSW	10	52115997	missense	probably benign	0.00
R4806:Ros1	UTSW	10	52096175	missense	probably damaging	0.96
R4865:Ros1	UTSW	10	52172870	missense	probably damaging	0.99
R4973:Ros1	UTSW	10	52154991	missense	probably damaging	0.98
R5022:Ros1	UTSW	10	52124075	missense	possibly damaging	0.46
R5033:Ros1	UTSW	10	52128416	critical splice donor site	probably null
R5082:Ros1	UTSW	10	52163941	missense	possibly damaging	0.66
R5083:Ros1	UTSW	10	52163941	missense	possibly damaging	0.66
R5130:Ros1	UTSW	10	52163941	missense	possibly damaging	0.66
R5269:Ros1	UTSW	10	52051008	missense	probably damaging	1.00
R5399:Ros1	UTSW	10	52090944	critical splice donor site	probably null
R5414:Ros1	UTSW	10	52155093	missense	probably damaging	1.00
R5659:Ros1	UTSW	10	52143386	missense	possibly damaging	0.92
R5742:Ros1	UTSW	10	52142138	critical splice donor site	probably null
R5780:Ros1	UTSW	10	52194857	missense	probably damaging	1.00
R5805:Ros1	UTSW	10	52123289	missense	probably damaging	1.00
R5843:Ros1	UTSW	10	52166197	missense	possibly damaging	0.92
R5881:Ros1	UTSW	10	52181798	missense	probably benign	0.26
R6027:Ros1	UTSW	10	52163968	missense	possibly damaging	0.82
R6035:Ros1	UTSW	10	52077971	missense	probably benign
R6035:Ros1	UTSW	10	52077971	missense	probably benign
R6052:Ros1	UTSW	10	52163903	missense	probably benign	0.39
R6175:Ros1	UTSW	10	52101785	missense	probably benign	0.02
R6315:Ros1	UTSW	10	52118210	missense	probably benign
R6342:Ros1	UTSW	10	52155255	missense	probably damaging	1.00
R6470:Ros1	UTSW	10	52166044	critical splice donor site	probably null
R6527:Ros1	UTSW	10	52143377	missense	possibly damaging	0.66
R6568:Ros1	UTSW	10	52162812	missense	probably damaging	1.00
R6573:Ros1	UTSW	10	52155010	missense	possibly damaging	0.84
R6653:Ros1	UTSW	10	52142203	missense	probably damaging	1.00
R6959:Ros1	UTSW	10	52163994	missense	probably damaging	0.99
R7111:Ros1	UTSW	10	52181810	missense	probably benign	0.02
R7243:Ros1	UTSW	10	52123381	missense	probably damaging	1.00
R7355:Ros1	UTSW	10	52166079	missense	probably damaging	1.00
R7385:Ros1	UTSW	10	52155126	missense	probably benign	0.00
R7460:Ros1	UTSW	10	52118203	missense	probably damaging	1.00
R7549:Ros1	UTSW	10	52145834	missense	probably damaging	0.96
R7573:Ros1	UTSW	10	52169976	missense	probably benign	0.03
R7650:Ros1	UTSW	10	52046209	missense	probably benign	0.00
R7667:Ros1	UTSW	10	52163971	missense	probably damaging	1.00
R7696:Ros1	UTSW	10	52142283	missense	probably damaging	1.00
R7785:Ros1	UTSW	10	52162848	missense	probably damaging	1.00
R7814:Ros1	UTSW	10	52096137	missense	probably benign	0.28
R7830:Ros1	UTSW	10	52154934	missense	probably damaging	0.99
R7832:Ros1	UTSW	10	52144861	missense	probably damaging	0.99
R7854:Ros1	UTSW	10	52128467	missense	probably damaging	1.00
R7912:Ros1	UTSW	10	52168695	missense	probably damaging	1.00
R7915:Ros1	UTSW	10	52144861	missense	probably damaging	0.99
R7937:Ros1	UTSW	10	52128467	missense	probably damaging	1.00
R7993:Ros1	UTSW	10	52168695	missense	probably damaging	1.00
R8036:Ros1	UTSW	10	52165343	missense	probably benign
RF018:Ros1	UTSW	10	52155121	missense	probably benign
Z1176:Ros1	UTSW	10	52091109	missense	possibly damaging	0.89
Z1177:Ros1	UTSW	10	52168671	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTATAACTGAGGTTGGCAAGACAAG -3'
(R):5'- CTCGCTCAAATCCTTGAAGGG -3'

Sequencing Primer
(F):5'- GTCGAATGCTGACTCAGGTTCAATC -3'
(R):5'- AATCCTTGAAGGGCCTTAGC -3'

Posted On

2019-05-13