Mutagenetix > Incidental Mutation

Incidental Mutation 'R5540:Rusc2'

435868

Institutional Source

Beutler Lab

Gene Symbol

Rusc2

Ensembl Gene

ENSMUSG00000035969

Gene Name

RUN and SH3 domain containing 2

Synonyms

MMRRC Submission

043098-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R5540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43381979-43427088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43423975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1043 (Y1043C)

Ref Sequence

ENSEMBL: ENSMUSP00000118528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000052829] [ENSMUST00000098106] [ENSMUST00000107928] [ENSMUST00000107929] [ENSMUST00000131668] [ENSMUST00000149221] [ENSMUST00000149676] [ENSMUST00000171134] [ENSMUST00000173682]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035645
AA Change: Y1043C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: Y1043C

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: ENSMUST00000052829

SMART Domains

Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	47	2.9e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098106
AA Change: Y1043C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: Y1043C

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: ENSMUST00000107928

SMART Domains

Protein: ENSMUSP00000103561
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	1.3e-20	PFAM
Pfam:DUF2475	212	251	6.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107929

SMART Domains

Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	1.5e-20	PFAM
Pfam:DUF2475	232	271	7.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125393

Predicted Effect

probably damaging
Transcript: ENSMUST00000131668
AA Change: Y1043C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: Y1043C

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

probably benign
Transcript: ENSMUST00000149676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154754

Predicted Effect

probably benign
Transcript: ENSMUST00000155080

Predicted Effect

probably benign
Transcript: ENSMUST00000171134

SMART Domains

Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788

Domain	Start	End	E-Value	Type
Pfam:DUF2475	15	76	7.2e-21	PFAM

Predicted Effect

probably benign
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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,362,947	S15P	probably damaging	Het
Actl7a	A	T	4: 56,744,388	H305L	probably benign	Het
Adam26b	C	A	8: 43,521,617	C116F	probably damaging	Het
Adgrl2	A	G	3: 148,837,562		probably null	Het
Akr1b10	A	G	6: 34,394,112	T238A	probably damaging	Het
Akr1c18	A	G	13: 4,137,179	V186A	probably benign	Het
Alpk3	G	A	7: 81,095,436	V1311M	probably damaging	Het
Aox1	A	G	1: 58,104,410	N1229S	probably benign	Het
Apobec3	T	A	15: 79,897,919	N43K	probably benign	Het
Arid1a	A	C	4: 133,680,454	D2247E	unknown	Het
Asph	A	G	4: 9,635,906	L77S	probably damaging	Het
Cd300ld	T	A	11: 114,987,405	T94S	probably damaging	Het
Celf2	T	C	2: 6,553,932	T382A	probably benign	Het
Cfap54	C	T	10: 92,972,608	A1402T	possibly damaging	Het
Chrnb1	A	T	11: 69,795,650	V48E	probably benign	Het
Col6a5	T	A	9: 105,862,776	E2548V	probably benign	Het
Crebrf	A	G	17: 26,742,097	D56G	possibly damaging	Het
Dctn5	A	G	7: 122,135,052	T40A	probably benign	Het
Dmxl2	A	T	9: 54,393,857	N2323K	probably benign	Het
Dync1h1	A	G	12: 110,660,950	Q4021R	probably benign	Het
Dyrk1a	T	G	16: 94,685,343		probably null	Het
Ephb3	T	A	16: 21,220,860	F454Y	probably damaging	Het
Fam71b	A	G	11: 46,404,888	N29S	probably damaging	Het
Fbxo38	A	G	18: 62,514,793		probably null	Het
Flg	T	C	3: 93,277,616	F15S	probably damaging	Het
Fndc3b	G	A	3: 27,501,502	P301L	probably damaging	Het
Fpr-rs7	C	T	17: 20,114,094	G45R	probably damaging	Het
Gfi1	T	A	5: 107,720,125	T360S	probably damaging	Het
Grik4	T	C	9: 42,520,947	H918R	probably damaging	Het
Hpx	A	G	7: 105,591,912	S385P	possibly damaging	Het
Kdm5b	A	G	1: 134,631,241	D1501G	probably damaging	Het
Kif20b	A	T	19: 34,938,460	M546L	probably benign	Het
Map3k9	G	T	12: 81,772,813	N222K	probably damaging	Het
Me1	A	G	9: 86,679,873	L53P	possibly damaging	Het
Mis18bp1	T	C	12: 65,148,746	E748G	possibly damaging	Het
Morc3	T	A	16: 93,847,380	N186K	probably benign	Het
Mtor	A	G	4: 148,454,708	T221A	probably benign	Het
Muc6	A	G	7: 141,649,585		probably null	Het
Myh8	C	A	11: 67,286,440	T444N	probably benign	Het
Myo7b	A	G	18: 32,007,090	Y216H	probably damaging	Het
Myom1	G	A	17: 71,109,787	V1382M	probably damaging	Het
Nbeal2	A	T	9: 110,631,733	Y1718N	probably damaging	Het
Npc1l1	A	G	11: 6,214,546	S1168P	probably damaging	Het
Olfr1431	T	A	19: 12,210,460	I298N	probably damaging	Het
Olfr463	T	A	11: 87,893,685	K80*	probably null	Het
Olfr48	A	G	2: 89,844,667	F102S	probably damaging	Het
Olfr561	C	T	7: 102,774,929	A135V	probably benign	Het
Olfr765	G	T	10: 129,046,495	D189E	probably damaging	Het
Pcdha4	C	A	18: 36,954,837	A691E	probably benign	Het
Pde6a	T	G	18: 61,231,366	F165V	probably damaging	Het
Pqlc2	A	T	4: 139,300,344	L229Q	probably damaging	Het
Ptpn14	A	T	1: 189,846,364	M340L	probably benign	Het
Rnasel	G	T	1: 153,755,144	E469*	probably null	Het
Rsph3a	T	G	17: 7,945,958	L50R	probably benign	Het
Serpinb6b	A	T	13: 32,977,558	K86*	probably null	Het
Serpine1	T	C	5: 137,063,209	T392A	probably benign	Het
Shcbp1	A	T	8: 4,744,529	D421E	probably damaging	Het
Slc24a1	A	G	9: 64,948,581	V348A	unknown	Het
Slc26a7	A	G	4: 14,506,621	F605L	probably benign	Het
Spag17	A	C	3: 100,056,272	E1102A	possibly damaging	Het
Stab2	A	G	10: 86,848,125	V2390A	probably benign	Het
Stk11	A	G	10: 80,126,049	I35V	probably benign	Het
Stk24	T	C	14: 121,294,281	D321G	possibly damaging	Het
Tbx4	A	T	11: 85,911,168	N209I	possibly damaging	Het
Tmem225	T	C	9: 40,149,385	L80P	probably damaging	Het
Tnfrsf4	C	T	4: 156,013,923	T17I	probably benign	Het
Traf3ip1	G	A	1: 91,501,315	R268Q	probably benign	Het
Trhde	T	A	10: 114,800,592	I237F	probably benign	Het
Ugt2a1	A	T	5: 87,486,056	W231R	probably damaging	Het
Vash1	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	12: 86,680,057		probably benign	Het
Vps16	T	A	2: 130,442,385	D685E	probably benign	Het
Washc4	A	G	10: 83,573,793	D602G	probably damaging	Het
Wdr59	A	G	8: 111,485,184	L377P	possibly damaging	Het
Wdr81	T	C	11: 75,449,070	E1364G	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	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- AAGAGCTGAGCTATGCCCTG -3'
(R):5'- GCAGGTTTGGAGATCACATTTC -3'

Sequencing Primer
(F):5'- TGAGCTATGCCCTGCAGACTC -3'
(R):5'- GGAGATCACATTTCTAACTTCTGG -3'

Posted On

2016-10-24