Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Rusc1'

232900

Institutional Source

Beutler Lab

Gene Symbol

Rusc1

Ensembl Gene

ENSMUSG00000041263

Gene Name

RUN and SH3 domain containing 1

Synonyms

2210403N08Rik

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88991288-89000618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88999014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 256 (D256G)

Ref Sequence

ENSEMBL: ENSMUSP00000088447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000196254] [ENSMUST00000200659] [ENSMUST00000196921] [ENSMUST00000196709] [ENSMUST00000199668]

AlphaFold

Q8BG26

Predicted Effect

probably benign
Transcript: ENSMUST00000052539
AA Change: D256G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: D256G

Domain	Start	End	E-Value	Type
low complexity region	95	117	N/A	INTRINSIC
low complexity region	149	165	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	389	402	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	577	588	N/A	INTRINSIC
RUN	589	657	2.75e-16	SMART
low complexity region	669	683	N/A	INTRINSIC
low complexity region	702	714	N/A	INTRINSIC
low complexity region	753	770	N/A	INTRINSIC
SH3	838	893	4.32e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081848

SMART Domains

Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	47	313	2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090929
AA Change: D256G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: D256G

Domain	Start	End	E-Value	Type
low complexity region	95	117	N/A	INTRINSIC
low complexity region	149	165	N/A	INTRINSIC
internal_repeat_1	195	244	5.11e-5	PROSPERO
internal_repeat_1	247	292	5.11e-5	PROSPERO
low complexity region	374	383	N/A	INTRINSIC
low complexity region	389	402	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	463	479	N/A	INTRINSIC
low complexity region	522	543	N/A	INTRINSIC
low complexity region	546	584	N/A	INTRINSIC
low complexity region	714	725	N/A	INTRINSIC
RUN	726	794	2.75e-16	SMART
low complexity region	806	820	N/A	INTRINSIC
low complexity region	839	851	N/A	INTRINSIC
low complexity region	890	907	N/A	INTRINSIC
SH3	975	1030	4.32e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166687

SMART Domains

Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
low complexity region	115	126	N/A	INTRINSIC
RUN	127	195	2.75e-16	SMART
low complexity region	207	221	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
low complexity region	291	308	N/A	INTRINSIC
SH3	376	431	4.32e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196043

SMART Domains

Protein: ENSMUSP00000142622
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
PDB:4GIW\|B	8	79	5e-45	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000196223

SMART Domains

Protein: ENSMUSP00000143662
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
Pfam:RUN	61	166	2.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196254

SMART Domains

Protein: ENSMUSP00000142669
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	1	238	3.6e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200433

Predicted Effect

probably benign
Transcript: ENSMUST00000200659

SMART Domains

Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:polyprenyl_synt	111	334	3.2e-55	PFAM
low complexity region	548	559	N/A	INTRINSIC
RUN	560	628	9.3e-19	SMART
low complexity region	640	654	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC
low complexity region	724	741	N/A	INTRINSIC
SH3	809	862	2.8e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196921

SMART Domains

Protein: ENSMUSP00000142704
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:polyprenyl_synt	111	226	7.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196709

SMART Domains

Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	44	316	8.7e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199668

SMART Domains

Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	44	121	3.2e-22	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,340,998 (GRCm39)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,719,473 (GRCm39)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,650,421 (GRCm39)	M4T	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,327,808 (GRCm39)	C208R	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcf3	C	A	10: 80,246,040 (GRCm39)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	Het

Other mutations in Rusc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Rusc1	APN	3	88,999,728 (GRCm39)	missense	probably damaging	0.99
IGL02795:Rusc1	APN	3	88,999,257 (GRCm39)	missense	probably damaging	1.00
IGL03174:Rusc1	APN	3	88,999,077 (GRCm39)	missense	probably damaging	1.00
R0422:Rusc1	UTSW	3	88,994,132 (GRCm39)	missense	probably benign	0.01
R1711:Rusc1	UTSW	3	88,996,600 (GRCm39)	missense	probably damaging	1.00
R1846:Rusc1	UTSW	3	88,999,452 (GRCm39)	missense	probably damaging	1.00
R2060:Rusc1	UTSW	3	88,995,155 (GRCm39)	missense	possibly damaging	0.86
R2209:Rusc1	UTSW	3	88,996,128 (GRCm39)	missense	probably damaging	1.00
R3081:Rusc1	UTSW	3	88,999,030 (GRCm39)	missense	possibly damaging	0.84
R3155:Rusc1	UTSW	3	88,999,038 (GRCm39)	missense	probably benign	0.03
R3156:Rusc1	UTSW	3	88,999,038 (GRCm39)	missense	probably benign	0.03
R4499:Rusc1	UTSW	3	88,999,615 (GRCm39)	missense	probably benign	0.02
R4678:Rusc1	UTSW	3	88,997,027 (GRCm39)	missense	probably damaging	1.00
R4725:Rusc1	UTSW	3	88,998,736 (GRCm39)	missense	possibly damaging	0.83
R4762:Rusc1	UTSW	3	88,998,949 (GRCm39)	missense	probably benign
R4890:Rusc1	UTSW	3	88,995,577 (GRCm39)	critical splice acceptor site	probably null
R5176:Rusc1	UTSW	3	88,996,389 (GRCm39)	missense	probably damaging	1.00
R5783:Rusc1	UTSW	3	88,995,452 (GRCm39)	missense	probably damaging	1.00
R5910:Rusc1	UTSW	3	88,999,027 (GRCm39)	missense	probably benign	0.05
R6189:Rusc1	UTSW	3	88,996,319 (GRCm39)	missense	probably damaging	1.00
R6190:Rusc1	UTSW	3	88,999,188 (GRCm39)	missense	probably benign
R6227:Rusc1	UTSW	3	88,999,048 (GRCm39)	missense	probably benign	0.06
R7087:Rusc1	UTSW	3	88,996,799 (GRCm39)	missense	probably damaging	0.96
R7184:Rusc1	UTSW	3	88,999,194 (GRCm39)	missense	possibly damaging	0.61
R7237:Rusc1	UTSW	3	88,998,805 (GRCm39)	missense	possibly damaging	0.66
R7343:Rusc1	UTSW	3	88,999,057 (GRCm39)	missense	probably damaging	0.99
R8120:Rusc1	UTSW	3	88,996,513 (GRCm39)	missense	probably damaging	0.99
R8802:Rusc1	UTSW	3	88,999,540 (GRCm39)	missense	probably benign
R8939:Rusc1	UTSW	3	88,995,337 (GRCm39)	missense	probably benign	0.14
R8960:Rusc1	UTSW	3	88,991,865 (GRCm39)	missense	probably damaging	0.99
R8992:Rusc1	UTSW	3	88,999,365 (GRCm39)	missense	probably benign	0.11
R9056:Rusc1	UTSW	3	88,996,990 (GRCm39)	missense	probably damaging	0.96
R9483:Rusc1	UTSW	3	88,994,113 (GRCm39)	missense	probably benign	0.00
R9541:Rusc1	UTSW	3	88,998,922 (GRCm39)	missense	possibly damaging	0.78
R9734:Rusc1	UTSW	3	88,996,496 (GRCm39)	missense	probably damaging	0.96
Z1177:Rusc1	UTSW	3	88,996,340 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTCGCTGCGATCTTTCTTG -3'
(R):5'- GGGGAACAGGATCTTGCTAC -3'

Sequencing Primer
(F):5'- CGATCTTTCTTGGCCTGCGG -3'
(R):5'- GAACAGGATCTTGCTACCTCTGAG -3'

Posted On

2014-09-18