Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02030:Rusc2'

184325

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

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL02030

Quality Score

Status

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43416095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 467 (V467E)

Ref Sequence

ENSEMBL: ENSMUSP00000133715 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035645
AA Change: V467E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: V467E

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: V467E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: V467E

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 benign
Transcript: ENSMUST00000131668
AA Change: V467E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: V467E

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 benign
Transcript: ENSMUST00000136360

SMART Domains

Protein: ENSMUSP00000123431
Gene: ENSMUSG00000035969

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139198

SMART Domains

Protein: ENSMUSP00000121528
Gene: ENSMUSG00000035969

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

possibly damaging
Transcript: ENSMUST00000173682
AA Change: V467E

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: V467E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150066

Predicted Effect

probably benign
Transcript: ENSMUST00000149221

Predicted Effect

probably benign
Transcript: ENSMUST00000152322

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 43,568,857 (GRCm38)	D532G	probably benign	Het
Adam29	C	T	8: 55,872,122 (GRCm38)	M432I	probably benign	Het
Cbs	A	G	17: 31,625,489 (GRCm38)		probably null	Het
Ccer1	A	G	10: 97,693,610 (GRCm38)	Y45C	unknown	Het
Clu	G	A	14: 65,975,791 (GRCm38)	G209S	probably benign	Het
Ddx17	T	C	15: 79,530,376 (GRCm38)	D530G	probably benign	Het
Ddx4	T	C	13: 112,624,777 (GRCm38)		probably benign	Het
Fry	C	T	5: 150,471,618 (GRCm38)		probably benign	Het
Fut10	C	T	8: 31,235,978 (GRCm38)	Q254*	probably null	Het
Gucy2e	A	G	11: 69,223,816 (GRCm38)	F1002S	probably damaging	Het
Hsd3b6	T	C	3: 98,806,173 (GRCm38)	Y270C	probably benign	Het
Jup	A	G	11: 100,376,991 (GRCm38)	I502T	probably damaging	Het
Lrrc71	T	A	3: 87,745,224 (GRCm38)		probably null	Het
Mei1	T	C	15: 82,115,743 (GRCm38)	V1127A	probably benign	Het
Ncstn	A	T	1: 172,072,457 (GRCm38)		probably benign	Het
Nin	T	C	12: 70,045,268 (GRCm38)	R756G	probably damaging	Het
Notch2	C	A	3: 98,099,421 (GRCm38)		probably null	Het
Oacyl	T	C	18: 65,737,910 (GRCm38)	V394A	probably damaging	Het
Olfr1444	T	C	19: 12,862,435 (GRCm38)	F220S	probably benign	Het
Olfr348	A	G	2: 36,787,398 (GRCm38)	Y291C	probably damaging	Het
Olfr524	A	G	7: 140,202,632 (GRCm38)	I46T	probably damaging	Het
Parn	A	G	16: 13,664,650 (GRCm38)		probably null	Het
Rspo3	T	G	10: 29,500,048 (GRCm38)	E173A	probably damaging	Het
Sema7a	G	A	9: 57,955,140 (GRCm38)	E209K	possibly damaging	Het
Uchl4	T	C	9: 64,235,629 (GRCm38)	S131P	probably benign	Het
Usp54	T	C	14: 20,565,946 (GRCm38)	I769V	probably benign	Het
Xirp2	T	C	2: 67,508,981 (GRCm38)	M522T	probably benign	Het

Other mutations in Rusc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Rusc2	APN	4	43,426,116 (GRCm38)	missense	probably damaging	0.97
IGL01474:Rusc2	APN	4	43,416,434 (GRCm38)	missense	probably damaging	0.98
IGL01541:Rusc2	APN	4	43,415,840 (GRCm38)	missense	probably benign	0.08
IGL01628:Rusc2	APN	4	43,425,729 (GRCm38)	missense	probably damaging	1.00
IGL01969:Rusc2	APN	4	43,415,738 (GRCm38)	missense	probably benign	0.02
IGL02079:Rusc2	APN	4	43,425,668 (GRCm38)	missense	probably benign
IGL02115:Rusc2	APN	4	43,426,136 (GRCm38)	splice site	probably benign
IGL02122:Rusc2	APN	4	43,421,685 (GRCm38)	missense	possibly damaging	0.67
IGL02350:Rusc2	APN	4	43,425,351 (GRCm38)	missense	possibly damaging	0.86
IGL02357:Rusc2	APN	4	43,425,351 (GRCm38)	missense	possibly damaging	0.86
IGL02437:Rusc2	APN	4	43,415,545 (GRCm38)	missense	probably damaging	1.00
IGL02930:Rusc2	APN	4	43,416,376 (GRCm38)	missense	probably damaging	0.99
IGL03154:Rusc2	APN	4	43,425,806 (GRCm38)	missense	probably benign	0.00
P0026:Rusc2	UTSW	4	43,415,840 (GRCm38)	missense	possibly damaging	0.93
R0036:Rusc2	UTSW	4	43,424,009 (GRCm38)	missense	probably damaging	1.00
R0068:Rusc2	UTSW	4	43,424,100 (GRCm38)	splice site	probably benign
R0068:Rusc2	UTSW	4	43,424,100 (GRCm38)	splice site	probably benign
R0114:Rusc2	UTSW	4	43,422,055 (GRCm38)	missense	probably damaging	1.00
R0255:Rusc2	UTSW	4	43,423,954 (GRCm38)	missense	probably damaging	1.00
R0471:Rusc2	UTSW	4	43,425,486 (GRCm38)	missense	probably damaging	0.99
R1381:Rusc2	UTSW	4	43,416,137 (GRCm38)	missense	probably damaging	1.00
R1413:Rusc2	UTSW	4	43,416,568 (GRCm38)	missense	probably benign	0.00
R1416:Rusc2	UTSW	4	43,421,617 (GRCm38)	missense	possibly damaging	0.86
R1731:Rusc2	UTSW	4	43,426,046 (GRCm38)	missense	probably benign
R1864:Rusc2	UTSW	4	43,421,719 (GRCm38)	missense	possibly damaging	0.49
R1897:Rusc2	UTSW	4	43,421,749 (GRCm38)	missense	probably damaging	1.00
R2010:Rusc2	UTSW	4	43,415,212 (GRCm38)	missense	probably benign	0.06
R2212:Rusc2	UTSW	4	43,415,935 (GRCm38)	missense	probably damaging	1.00
R2275:Rusc2	UTSW	4	43,416,260 (GRCm38)	missense	probably damaging	1.00
R2885:Rusc2	UTSW	4	43,415,456 (GRCm38)	missense	probably benign	0.28
R2886:Rusc2	UTSW	4	43,415,456 (GRCm38)	missense	probably benign	0.28
R3412:Rusc2	UTSW	4	43,415,935 (GRCm38)	missense	probably damaging	1.00
R3413:Rusc2	UTSW	4	43,415,935 (GRCm38)	missense	probably damaging	1.00
R3414:Rusc2	UTSW	4	43,415,935 (GRCm38)	missense	probably damaging	1.00
R3852:Rusc2	UTSW	4	43,416,424 (GRCm38)	missense	probably benign	0.45
R4135:Rusc2	UTSW	4	43,425,563 (GRCm38)	missense	possibly damaging	0.49
R4272:Rusc2	UTSW	4	43,415,533 (GRCm38)	missense	probably damaging	1.00
R4574:Rusc2	UTSW	4	43,416,080 (GRCm38)	missense	probably damaging	0.99
R4888:Rusc2	UTSW	4	43,423,942 (GRCm38)	missense	probably damaging	1.00
R5010:Rusc2	UTSW	4	43,415,926 (GRCm38)	missense	probably damaging	1.00
R5071:Rusc2	UTSW	4	43,415,240 (GRCm38)	missense	probably benign	0.05
R5131:Rusc2	UTSW	4	43,414,948 (GRCm38)	missense	probably benign	0.03
R5177:Rusc2	UTSW	4	43,421,805 (GRCm38)	splice site	probably null
R5540:Rusc2	UTSW	4	43,423,975 (GRCm38)	missense	probably damaging	1.00
R5561:Rusc2	UTSW	4	43,415,932 (GRCm38)	nonsense	probably null
R5628:Rusc2	UTSW	4	43,425,348 (GRCm38)	missense	probably damaging	1.00
R5645:Rusc2	UTSW	4	43,425,758 (GRCm38)	missense	probably benign	0.06
R6129:Rusc2	UTSW	4	43,424,271 (GRCm38)	missense	probably damaging	1.00
R6362:Rusc2	UTSW	4	43,416,416 (GRCm38)	missense	probably benign	0.30
R6633:Rusc2	UTSW	4	43,414,852 (GRCm38)	missense	probably damaging	0.99
R6980:Rusc2	UTSW	4	43,422,846 (GRCm38)	missense	probably benign	0.35
R7491:Rusc2	UTSW	4	43,426,528 (GRCm38)	missense	probably damaging	1.00
R7641:Rusc2	UTSW	4	43,425,335 (GRCm38)	missense	possibly damaging	0.84
R7698:Rusc2	UTSW	4	43,414,900 (GRCm38)	nonsense	probably null
R7710:Rusc2	UTSW	4	43,416,119 (GRCm38)	missense	probably benign	0.07
R8052:Rusc2	UTSW	4	43,421,851 (GRCm38)	missense	probably benign
R8061:Rusc2	UTSW	4	43,422,492 (GRCm38)	missense	probably damaging	1.00
R8127:Rusc2	UTSW	4	43,423,747 (GRCm38)	missense	possibly damaging	0.54
R8319:Rusc2	UTSW	4	43,425,378 (GRCm38)	missense	probably damaging	1.00
R8355:Rusc2	UTSW	4	43,422,846 (GRCm38)	missense	probably benign	0.35
R8397:Rusc2	UTSW	4	43,424,206 (GRCm38)	missense	possibly damaging	0.95
R8455:Rusc2	UTSW	4	43,422,846 (GRCm38)	missense	probably benign	0.35
R8553:Rusc2	UTSW	4	43,416,508 (GRCm38)	missense	probably benign	0.05
R8725:Rusc2	UTSW	4	43,401,351 (GRCm38)	intron	probably benign
R8725:Rusc2	UTSW	4	43,415,396 (GRCm38)	missense	probably damaging	0.99
R8727:Rusc2	UTSW	4	43,401,351 (GRCm38)	intron	probably benign
R8834:Rusc2	UTSW	4	43,416,431 (GRCm38)	missense	possibly damaging	0.94
R9295:Rusc2	UTSW	4	43,416,382 (GRCm38)	missense	probably damaging	0.98
R9483:Rusc2	UTSW	4	43,415,897 (GRCm38)	missense	probably damaging	0.97
R9666:Rusc2	UTSW	4	43,416,262 (GRCm38)	missense	probably benign	0.21
R9705:Rusc2	UTSW	4	43,424,936 (GRCm38)	missense	probably benign	0.00
X0025:Rusc2	UTSW	4	43,422,226 (GRCm38)	missense	probably benign	0.00
X0066:Rusc2	UTSW	4	43,422,204 (GRCm38)	nonsense	probably null

Posted On

2014-05-07