Mutagenetix > Incidental Mutations

Incidental Mutation 'R6633:Rusc2'

525284

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R6633 (G1)

Quality Score

91.0077

Status

Validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43414852 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 53 (F53L)

Ref Sequence

ENSEMBL: ENSMUSP00000121528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000125399] [ENSMUST00000131668] [ENSMUST00000135216] [ENSMUST00000136360] [ENSMUST00000139198] [ENSMUST00000144911] [ENSMUST00000149221] [ENSMUST00000152322] [ENSMUST00000173682]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035645
AA Change: F53L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: F53L

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC
SH3	1457	1512	7.4e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098106
AA Change: F53L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: F53L

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC
SH3	1457	1512	7.4e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125393

Predicted Effect

probably benign
Transcript: ENSMUST00000125399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131037

Predicted Effect

probably damaging
Transcript: ENSMUST00000131668
AA Change: F53L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: F53L

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	600	617	N/A	INTRINSIC
low complexity region	795	809	N/A	INTRINSIC
RUN	1109	1177	3.66e-21	SMART
low complexity region	1235	1260	N/A	INTRINSIC
low complexity region	1289	1324	N/A	INTRINSIC
low complexity region	1330	1341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135216

Predicted Effect

probably damaging
Transcript: ENSMUST00000136360
AA Change: F53L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123431
Gene: ENSMUSG00000035969
AA Change: F53L

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139198
AA Change: F53L

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

SMART Domains

Protein: ENSMUSP00000121528
Gene: ENSMUSG00000035969
AA Change: F53L

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146710

Predicted Effect

probably benign
Transcript: ENSMUST00000149221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150066

Predicted Effect

probably benign
Transcript: ENSMUST00000152322

Predicted Effect

probably damaging
Transcript: ENSMUST00000173682
AA Change: F53L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: F53L

Domain	Start	End	E-Value	Type
low complexity region	39	47	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	253	265	N/A	INTRINSIC
low complexity region	411	427	N/A	INTRINSIC
low complexity region	435	448	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC
low complexity region	685	703	N/A	INTRINSIC
low complexity region	733	740	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	A	11: 84,511,482		probably null	Het
Acot7	C	T	4: 152,178,259	P30L	probably benign	Het
Adam24	T	G	8: 40,680,487	D331E	probably benign	Het
Adamdec1	T	C	14: 68,573,152	D185G	probably benign	Het
Adgrg7	T	C	16: 56,730,286	I688V	probably benign	Het
Adgrv1	A	T	13: 81,568,643	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,381,467	I172V	probably benign	Het
Anapc4	C	T	5: 52,865,946	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,212,544	N179S	probably benign	Het
Arhgef40	C	T	14: 51,997,431	P1064S	probably damaging	Het
Btnl1	A	G	17: 34,385,331	N362S	possibly damaging	Het
Ccdc80	T	C	16: 45,094,908	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,485,189	E180K	probably benign	Het
Cdh2	A	T	18: 16,640,548	N241K	probably benign	Het
Cdk8	C	A	5: 146,298,846	S261*	probably null	Het
Csf2rb2	T	C	15: 78,288,952	E236G	probably benign	Het
Dgcr8	A	T	16: 18,284,182	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,787	Y1346F	probably benign	Het
Dock6	A	G	9: 21,820,331	V1194A	probably benign	Het
Dock6	A	G	9: 21,821,503	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,683,996	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738		probably benign	Het
Fcer1a	C	G	1: 173,226,726		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,928,720		probably null	Het
Gm44511	T	A	6: 128,826,242	D2V	probably damaging	Het
H2-Q2	A	G	17: 35,342,387	T19A	probably damaging	Het
Herc1	G	T	9: 66,439,252	E1967*	probably null	Het
Hic1	G	T	11: 75,169,498	H8N	unknown	Het
Irx4	G	T	13: 73,268,426	A314S	probably benign	Het
Jarid2	C	A	13: 44,884,877	H84N	probably damaging	Het
Klk1b27	A	T	7: 44,055,810	I134F	probably damaging	Het
Kprp	T	C	3: 92,825,293	Y150C	probably damaging	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,469,074	V489A	probably benign	Het
Mrgpra6	A	G	7: 47,188,745	I235T	possibly damaging	Het
Naip1	A	G	13: 100,423,076	M1140T	probably benign	Het
Naip1	C	T	13: 100,423,085	R1137Q	probably benign	Het
Olfr1259	T	C	2: 89,943,366	I250V	probably benign	Het
Plcl2	A	G	17: 50,640,140	I1016V	probably benign	Het
Plekhb1	A	G	7: 100,645,639	Y122H	probably damaging	Het
Polr2a	A	G	11: 69,735,513	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,253,255		probably null	Het
Rag1	T	A	2: 101,642,710	R696W	probably damaging	Het
Tango6	T	C	8: 106,718,005	V514A	probably benign	Het
Tex30	A	C	1: 44,087,924	H64Q	probably benign	Het
Tmbim7	A	G	5: 3,657,659		probably null	Het
Tmem5	G	A	10: 122,097,053	R7W	probably damaging	Het
Tpcn1	A	G	5: 120,544,464	M493T	probably benign	Het
Tpx2	T	G	2: 152,867,354	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971	T112I	probably benign	Het
Wnt2b	T	C	3: 104,951,056	Y299C	probably damaging	Het

Other mutations in Rusc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Rusc2	APN	4	43426116	missense	probably damaging	0.97
IGL01474:Rusc2	APN	4	43416434	missense	probably damaging	0.98
IGL01541:Rusc2	APN	4	43415840	missense	probably benign	0.08
IGL01628:Rusc2	APN	4	43425729	missense	probably damaging	1.00
IGL01969:Rusc2	APN	4	43415738	missense	probably benign	0.02
IGL02030:Rusc2	APN	4	43416095	missense	possibly damaging	0.86
IGL02079:Rusc2	APN	4	43425668	missense	probably benign
IGL02115:Rusc2	APN	4	43426136	splice site	probably benign
IGL02122:Rusc2	APN	4	43421685	missense	possibly damaging	0.67
IGL02350:Rusc2	APN	4	43425351	missense	possibly damaging	0.86
IGL02357:Rusc2	APN	4	43425351	missense	possibly damaging	0.86
IGL02437:Rusc2	APN	4	43415545	missense	probably damaging	1.00
IGL02930:Rusc2	APN	4	43416376	missense	probably damaging	0.99
IGL03154:Rusc2	APN	4	43425806	missense	probably benign	0.00
P0026:Rusc2	UTSW	4	43415840	missense	possibly damaging	0.93
R0036:Rusc2	UTSW	4	43424009	missense	probably damaging	1.00
R0068:Rusc2	UTSW	4	43424100	splice site	probably benign
R0068:Rusc2	UTSW	4	43424100	splice site	probably benign
R0114:Rusc2	UTSW	4	43422055	missense	probably damaging	1.00
R0255:Rusc2	UTSW	4	43423954	missense	probably damaging	1.00
R0471:Rusc2	UTSW	4	43425486	missense	probably damaging	0.99
R1381:Rusc2	UTSW	4	43416137	missense	probably damaging	1.00
R1413:Rusc2	UTSW	4	43416568	missense	probably benign	0.00
R1416:Rusc2	UTSW	4	43421617	missense	possibly damaging	0.86
R1731:Rusc2	UTSW	4	43426046	missense	probably benign
R1864:Rusc2	UTSW	4	43421719	missense	possibly damaging	0.49
R1897:Rusc2	UTSW	4	43421749	missense	probably damaging	1.00
R2010:Rusc2	UTSW	4	43415212	missense	probably benign	0.06
R2212:Rusc2	UTSW	4	43415935	missense	probably damaging	1.00
R2275:Rusc2	UTSW	4	43416260	missense	probably damaging	1.00
R2885:Rusc2	UTSW	4	43415456	missense	probably benign	0.28
R2886:Rusc2	UTSW	4	43415456	missense	probably benign	0.28
R3412:Rusc2	UTSW	4	43415935	missense	probably damaging	1.00
R3413:Rusc2	UTSW	4	43415935	missense	probably damaging	1.00
R3414:Rusc2	UTSW	4	43415935	missense	probably damaging	1.00
R3852:Rusc2	UTSW	4	43416424	missense	probably benign	0.45
R4135:Rusc2	UTSW	4	43425563	missense	possibly damaging	0.49
R4272:Rusc2	UTSW	4	43415533	missense	probably damaging	1.00
R4574:Rusc2	UTSW	4	43416080	missense	probably damaging	0.99
R4888:Rusc2	UTSW	4	43423942	missense	probably damaging	1.00
R5010:Rusc2	UTSW	4	43415926	missense	probably damaging	1.00
R5071:Rusc2	UTSW	4	43415240	missense	probably benign	0.05
R5131:Rusc2	UTSW	4	43414948	missense	probably benign	0.03
R5177:Rusc2	UTSW	4	43421805	unclassified	probably null
R5540:Rusc2	UTSW	4	43423975	missense	probably damaging	1.00
R5561:Rusc2	UTSW	4	43415932	nonsense	probably null
R5628:Rusc2	UTSW	4	43425348	missense	probably damaging	1.00
R5645:Rusc2	UTSW	4	43425758	missense	probably benign	0.06
R6129:Rusc2	UTSW	4	43424271	missense	probably damaging	1.00
R6362:Rusc2	UTSW	4	43416416	missense	probably benign	0.30
R6980:Rusc2	UTSW	4	43422846	missense	probably benign	0.35
R7491:Rusc2	UTSW	4	43426528	missense	probably damaging	1.00
R7641:Rusc2	UTSW	4	43425335	missense	possibly damaging	0.84
R7698:Rusc2	UTSW	4	43414900	nonsense	probably null
R7710:Rusc2	UTSW	4	43416119	missense	probably benign	0.07
R8052:Rusc2	UTSW	4	43421851
R8061:Rusc2	UTSW	4	43422492
X0025:Rusc2	UTSW	4	43422226	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43422204	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGAAATGTGTTGTGCCCCAC -3'
(R):5'- ACCTTCCTGCACCAAGAAGG -3'

Sequencing Primer
(F):5'- GCTCCAAAGGCAGTATCTGG -3'
(R):5'- CTTCCTGCACCAAGAAGGGATTATG -3'

Posted On

2018-06-22