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: 0.162) 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
boss	UTSW	10	52090995	nonsense	probably null
Chuckwagon	UTSW	10	52118203	missense	probably damaging	1.00
trail	UTSW	10	52161895	nonsense	probably null
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	splice site	probably null
R3424:Ros1	UTSW	10	52128416	splice site	probably null
R3425:Ros1	UTSW	10	52128416	splice site	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
R7972:Ros1	UTSW	10	52154830	nonsense	probably null
R7993:Ros1	UTSW	10	52123347	missense	probably benign	0.34
R8036:Ros1	UTSW	10	52165343	missense	probably benign
R8137:Ros1	UTSW	10	52125837	missense	possibly damaging	0.87
R8169:Ros1	UTSW	10	52064672	critical splice donor site	probably null
R8199:Ros1	UTSW	10	52101717	nonsense	probably null
R8293:Ros1	UTSW	10	52087918	missense	probably damaging	1.00
R8368:Ros1	UTSW	10	52064737	missense	probably damaging	1.00
R8406:Ros1	UTSW	10	52101845	missense	possibly damaging	0.56
R8471:Ros1	UTSW	10	52120982	missense	probably benign	0.00
R8498:Ros1	UTSW	10	52178951	missense	probably damaging	0.99
R8532:Ros1	UTSW	10	52098756	missense	possibly damaging	0.92
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