Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02122:Rusc2'

280663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43421685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 702 (F702L)

Ref Sequence

ENSEMBL: ENSMUSP00000118528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000131668] [ENSMUST00000149221] [ENSMUST00000173682]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035645
AA Change: F702L

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: F702L

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

probably benign
Transcript: ENSMUST00000098106
AA Change: F702L

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: F702L

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: ENSMUST00000123447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125393

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131668
AA Change: F702L

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: F702L

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

noncoding transcript
Transcript: ENSMUST00000146710

Predicted Effect

probably benign
Transcript: ENSMUST00000149221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154754

Predicted Effect

silent
Transcript: ENSMUST00000173682

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969

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

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,170,525	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,687,128		probably benign	Het
Adcy5	G	A	16: 35,283,612		probably benign	Het
Adcy6	T	A	15: 98,598,882	H504L	possibly damaging	Het
Ank2	A	G	3: 126,937,874		probably benign	Het
Atxn2	A	G	5: 121,778,030	D34G	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Carmil1	T	C	13: 24,036,558	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,743,985	I212V	probably benign	Het
Chl1	A	G	6: 103,675,137	D338G	probably benign	Het
Cog6	T	C	3: 52,998,342	I361V	probably benign	Het
Dip2c	T	C	13: 9,506,659	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,872,583	R34S	possibly damaging	Het
Exph5	A	G	9: 53,373,674	N685S	probably benign	Het
Flnc	A	T	6: 29,444,336	I684L	possibly damaging	Het
Foxk1	T	A	5: 142,451,429		probably benign	Het
Gprc6a	T	C	10: 51,626,723	N348S	probably benign	Het
Gspt1	T	C	16: 11,229,216	K445R	probably damaging	Het
Hace1	T	C	10: 45,618,604	V170A	probably damaging	Het
Hydin	T	C	8: 110,494,415	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,948,525	L36Q	possibly damaging	Het
Ints1	G	A	5: 139,765,150	Q833*	probably null	Het
Myo15	T	C	11: 60,483,466	F96L	probably benign	Het
Myom1	G	T	17: 71,092,137	R998L	probably damaging	Het
Nacc2	A	G	2: 26,089,948	S159P	probably benign	Het
Olfr1128	A	G	2: 87,545,103	V147A	probably benign	Het
Olfr178	T	C	16: 58,889,771	T150A	probably benign	Het
Olfr873	T	A	9: 20,300,584	L128Q	probably damaging	Het
Pbrm1	A	G	14: 31,089,616	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,767,421	R60C	probably damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,107,796	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,223,856		probably null	Het
Prmt8	A	G	6: 127,690,717	Y332H	probably benign	Het
Prpf38a	A	G	4: 108,579,041	I25T	possibly damaging	Het
Rpf1	T	C	3: 146,521,267	K44E	probably benign	Het
Ryr2	A	T	13: 11,741,869	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Tkt	T	C	14: 30,571,201	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,590,414	N249K	probably damaging	Het
Tmpo	A	T	10: 91,164,136	S157T	possibly damaging	Het
Tspan32	A	T	7: 143,015,635	I144F	probably damaging	Het
Ufsp2	G	A	8: 45,995,648	V429I	probably benign	Het
Unc13c	T	A	9: 73,734,397		probably benign	Het
Usp47	A	T	7: 112,106,908	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,613,635		probably benign	Het
Zfp507	G	T	7: 35,776,095	L898I	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
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	splice site	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
R6633:Rusc2	UTSW	4	43414852	missense	probably damaging	0.99
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	missense	probably benign
R8061:Rusc2	UTSW	4	43422492	missense	probably damaging	1.00
R8127:Rusc2	UTSW	4	43423747	missense	possibly damaging	0.54
R8319:Rusc2	UTSW	4	43425378	missense	probably damaging	1.00
R8355:Rusc2	UTSW	4	43422846	missense	probably benign	0.35
R8397:Rusc2	UTSW	4	43424206	missense	possibly damaging	0.95
R8455:Rusc2	UTSW	4	43422846	missense	probably benign	0.35
R8553:Rusc2	UTSW	4	43416508	missense	probably benign	0.05
R8725:Rusc2	UTSW	4	43401351	intron	probably benign
R8725:Rusc2	UTSW	4	43415396	missense	probably damaging	0.99
R8727:Rusc2	UTSW	4	43401351	intron	probably benign
R8834:Rusc2	UTSW	4	43416431	missense	possibly damaging	0.94
R9295:Rusc2	UTSW	4	43416382	missense	probably damaging	0.98
R9483:Rusc2	UTSW	4	43415897	missense	probably damaging	0.97
X0025:Rusc2	UTSW	4	43422226	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43422204	nonsense	probably null

Posted On

2015-04-16