Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02930:Rusc2'

364049

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 #

IGL02930

Quality Score

Status

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43416376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 561 (A561T)

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

possibly damaging
Transcript: ENSMUST00000035645
AA Change: A561T

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: A561T

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: A561T

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: A561T

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

possibly damaging
Transcript: ENSMUST00000131668
AA Change: A561T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: A561T

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

probably damaging
Transcript: ENSMUST00000173682
AA Change: A561T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: A561T

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,378,226 (GRCm38)	N3433S	possibly damaging	Het
Actl9	T	C	17: 33,434,099 (GRCm38)	S378P	probably damaging	Het
Aldh6a1	C	A	12: 84,433,982 (GRCm38)	L426F	possibly damaging	Het
Ankef1	T	C	2: 136,550,325 (GRCm38)	I478T	possibly damaging	Het
Cabs1	A	G	5: 87,979,886 (GRCm38)	D132G	probably damaging	Het
Ccdc39	T	C	3: 33,825,494 (GRCm38)	E475G	probably damaging	Het
Cmtm2b	A	C	8: 104,329,770 (GRCm38)	M104L	probably benign	Het
Cops2	T	C	2: 125,832,189 (GRCm38)		probably benign	Het
Dnajc4	C	A	19: 6,989,433 (GRCm38)	V176F	possibly damaging	Het
Eepd1	A	G	9: 25,483,240 (GRCm38)	N267D	probably damaging	Het
Elobl	T	G	11: 88,965,186 (GRCm38)	D17A	possibly damaging	Het
Erich6	G	A	3: 58,622,354 (GRCm38)		probably benign	Het
Flna	G	A	X: 74,223,900 (GRCm38)	R2548C	probably damaging	Het
Gm6878	T	G	14: 67,310,990 (GRCm38)		probably benign	Het
Gpc1	G	T	1: 92,857,299 (GRCm38)	E355*	probably null	Het
Islr	C	T	9: 58,158,200 (GRCm38)		probably benign	Het
Mex3a	A	T	3: 88,536,225 (GRCm38)	I203L	probably benign	Het
Olfr482	A	T	7: 108,095,414 (GRCm38)	I52N	probably damaging	Het
Olfr794	T	C	10: 129,571,315 (GRCm38)	I220T	probably damaging	Het
Olfr938	G	T	9: 39,078,012 (GRCm38)	H244Q	probably damaging	Het
Prokr2	T	C	2: 132,373,474 (GRCm38)	S195G	probably benign	Het
Pyroxd1	A	T	6: 142,359,052 (GRCm38)	D335V	probably damaging	Het
Rps6kl1	T	C	12: 85,149,774 (GRCm38)	T39A	probably benign	Het
Sel1l3	A	C	5: 53,123,217 (GRCm38)	V937G	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,417,161 (GRCm38)	T382A	possibly damaging	Het
Tbx21	A	G	11: 97,100,039 (GRCm38)	I271T	probably damaging	Het
Timeless	T	C	10: 128,247,191 (GRCm38)	V632A	probably benign	Het
Tle3	A	G	9: 61,394,699 (GRCm38)	N67S	possibly damaging	Het
Tln2	G	A	9: 67,393,662 (GRCm38)	R95*	probably null	Het
Trim24	A	G	6: 37,951,445 (GRCm38)		probably benign	Het
Uggt1	A	T	1: 36,157,456 (GRCm38)	D1253E	probably benign	Het
Vmn1r8	A	G	6: 57,036,594 (GRCm38)	K210R	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
IGL02030:Rusc2	APN	4	43,416,095 (GRCm38)	missense	possibly damaging	0.86
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
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

2015-12-18