Mutagenetix > Incidental Mutations

Incidental Mutation 'R7237:Rusc1'

562879

Institutional Source

Beutler Lab

Gene Symbol

Rusc1

Ensembl Gene

ENSMUSG00000041263

Gene Name

RUN and SH3 domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89083981-89093311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89091498 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 326 (Q326K)

Ref Sequence

ENSEMBL: ENSMUSP00000088447 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000052539
AA Change: Q326K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: Q326K

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

possibly damaging
Transcript: ENSMUST00000090929
AA Change: Q326K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: Q326K

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

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: 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: ENSMUST00000199668

SMART Domains

Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (83/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	T	2: 20,849,972	C1536*	probably null	Het
Armc9	C	A	1: 86,164,849	Q169K	possibly damaging	Het
Aspm	T	A	1: 139,477,929	M1518K	possibly damaging	Het
AU018091	A	G	7: 3,159,166	I360T	probably benign	Het
BB014433	C	A	8: 15,041,765	V363L	probably benign	Het
Bcam	T	C	7: 19,769,307		probably null	Het
Cacna1g	T	C	11: 94,437,879	S1071G	probably benign	Het
Card9	A	T	2: 26,356,775	S354T	probably benign	Het
Ccdc87	A	G	19: 4,839,762	N94S	probably benign	Het
Cdc27	A	G	11: 104,517,419	V555A	probably benign	Het
Coro1a	T	A	7: 126,700,306	D411V	probably benign	Het
Cybrd1	GGTCCTGCAC	G	2: 71,118,209		probably benign	Het
Cyth1	A	T	11: 118,185,495	I95N	probably damaging	Het
Ddx58	T	A	4: 40,205,938	I885F	probably benign	Het
Dnah7b	A	T	1: 46,139,966	E933V	probably damaging	Het
Dync2h1	A	T	9: 6,993,966	I3968N	probably benign	Het
Fam126b	G	A	1: 58,529,948	Q491*	probably null	Het
Fam184a	T	C	10: 53,634,393		probably benign	Het
Fat3	G	A	9: 16,377,214	L338F	probably damaging	Het
Fcgr3	A	G	1: 171,059,301	L18P	probably damaging	Het
Gbp5	T	C	3: 142,507,700	V459A	probably benign	Het
Gja4	A	T	4: 127,312,163	M269K	probably benign	Het
Gm4787	A	G	12: 81,377,668	V572A	probably damaging	Het
Grin2d	G	T	7: 45,866,176	S131*	probably null	Het
Gys1	A	G	7: 45,455,162	D671G	probably benign	Het
Haspin	T	C	11: 73,136,886	N459S	probably benign	Het
Hdac10	G	T	15: 89,125,377	Q451K	probably benign	Het
Hdac9	T	C	12: 34,374,140		probably null	Het
Hmcn1	A	G	1: 150,722,643	V1636A	probably damaging	Het
Hpca	A	G	4: 129,118,614	L43P	probably damaging	Het
Insm1	C	A	2: 146,222,528	A88E	possibly damaging	Het
Itga9	A	G	9: 118,636,602	K175E	probably benign	Het
Kif13a	A	G	13: 46,809,156		probably null	Het
Kif20b	T	A	19: 34,950,605	L1089H	probably damaging	Het
Lamp5	A	T	2: 136,059,835	H152L	probably benign	Het
Lrp4	T	C	2: 91,473,183	F76L	probably benign	Het
Magi3	T	C	3: 104,027,911	D902G	probably damaging	Het
Map10	C	T	8: 125,671,224	P452L	probably benign	Het
Mapk6	A	G	9: 75,397,613	L174P	probably damaging	Het
Ndufa4	C	T	6: 11,906,019		probably null	Het
Nedd4	A	T	9: 72,725,064	E393D	probably benign	Het
Nlrp4b	G	A	7: 10,715,216	V449I	probably benign	Het
Nufip2	T	A	11: 77,692,770	N503K	probably benign	Het
Olfr220	C	T	1: 174,449,339	R239C	probably benign	Het
Olfr455	T	C	6: 42,538,647	D125G	probably damaging	Het
P4ha1	A	G	10: 59,348,243	T176A	probably benign	Het
Palm3	A	G	8: 84,029,488	K543R	probably benign	Het
Parvg	G	A	15: 84,341,356	A302T	probably benign	Het
Pcdh15	A	G	10: 74,584,191	D1227G	possibly damaging	Het
Pdzd8	C	T	19: 59,345,139	G150D	probably damaging	Het
Pitpnm2	A	G	5: 124,125,297		probably null	Het
Pld5	T	C	1: 176,274,735	Q47R	possibly damaging	Het
Ppp2r5d	T	C	17: 46,686,280	S329G	possibly damaging	Het
Prss56	T	C	1: 87,184,915	V144A	probably damaging	Het
Psg28	A	T	7: 18,427,844	Y245N	possibly damaging	Het
Ptpn3	C	T	4: 57,239,625	V302I	probably damaging	Het
Ptprn2	A	G	12: 117,161,727	H627R	probably benign	Het
Rasgrp2	A	T	19: 6,404,808	H226L	possibly damaging	Het
Rbm20	C	T	19: 53,851,499	T973M	probably benign	Het
Riok2	T	A	17: 17,377,783	L44Q	probably damaging	Het
Sart3	A	T	5: 113,754,246	H397Q	possibly damaging	Het
Sec31b	T	A	19: 44,517,708	T920S	probably damaging	Het
Serpinb13	A	G	1: 106,998,949	E225G	probably damaging	Het
Slc25a47	T	C	12: 108,855,460	L165P	probably damaging	Het
Slc2a10	G	A	2: 165,515,277	V286I	probably benign	Het
Slc39a13	G	T	2: 91,065,634	T174N	probably benign	Het
Slc7a13	T	A	4: 19,839,364	N322K	probably benign	Het
Stk38	T	C	17: 28,974,646	T326A	possibly damaging	Het
Sult1a1	T	C	7: 126,673,450	M244V	probably benign	Het
Tas2r144	C	T	6: 42,215,866	T180I	probably damaging	Het
Tbc1d12	T	A	19: 38,898,902	M366K	probably benign	Het
Terb1	T	C	8: 104,495,327	I147V	possibly damaging	Het
Tldc1	C	T	8: 119,762,315	G410S	probably damaging	Het
Tmem5	A	T	10: 122,081,618	L330*	probably null	Het
Tnik	T	C	3: 28,638,419	Y820H	probably damaging	Het
Tnxb	C	A	17: 34,682,196	L995I	possibly damaging	Het
Trim34b	A	G	7: 104,329,587	T14A	possibly damaging	Het
Urb1	T	C	16: 90,791,166	E418G	probably damaging	Het
Vmn1r12	T	A	6: 57,159,565	C216S	possibly damaging	Het
Vmn2r90	T	A	17: 17,703,987	V16E	possibly damaging	Het
Vps11	A	T	9: 44,354,506	V492D	probably damaging	Het
Wdr62	A	C	7: 30,270,444		probably null	Het
Zc3h14	T	A	12: 98,780,149	M539K	probably benign	Het
Zfp871	A	T	17: 32,775,315	H295Q	probably damaging	Het

Other mutations in Rusc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Rusc1	APN	3	89092421	missense	probably damaging	0.99
IGL02795:Rusc1	APN	3	89091950	missense	probably damaging	1.00
IGL03174:Rusc1	APN	3	89091770	missense	probably damaging	1.00
R0422:Rusc1	UTSW	3	89086825	missense	probably benign	0.01
R1711:Rusc1	UTSW	3	89089293	missense	probably damaging	1.00
R1846:Rusc1	UTSW	3	89092145	missense	probably damaging	1.00
R2060:Rusc1	UTSW	3	89087848	missense	possibly damaging	0.86
R2114:Rusc1	UTSW	3	89091707	missense	probably benign
R2209:Rusc1	UTSW	3	89088821	missense	probably damaging	1.00
R3081:Rusc1	UTSW	3	89091723	missense	possibly damaging	0.84
R3155:Rusc1	UTSW	3	89091731	missense	probably benign	0.03
R3156:Rusc1	UTSW	3	89091731	missense	probably benign	0.03
R4499:Rusc1	UTSW	3	89092308	missense	probably benign	0.02
R4678:Rusc1	UTSW	3	89089720	missense	probably damaging	1.00
R4725:Rusc1	UTSW	3	89091429	missense	possibly damaging	0.83
R4762:Rusc1	UTSW	3	89091642	missense	probably benign
R4890:Rusc1	UTSW	3	89088270	critical splice acceptor site	probably null
R5176:Rusc1	UTSW	3	89089082	missense	probably damaging	1.00
R5783:Rusc1	UTSW	3	89088145	missense	probably damaging	1.00
R5910:Rusc1	UTSW	3	89091720	missense	probably benign	0.05
R6189:Rusc1	UTSW	3	89089012	missense	probably damaging	1.00
R6190:Rusc1	UTSW	3	89091881	missense	probably benign
R6227:Rusc1	UTSW	3	89091741	missense	probably benign	0.06
R7087:Rusc1	UTSW	3	89089492	missense	probably damaging	0.96
R7184:Rusc1	UTSW	3	89091887	missense	possibly damaging	0.61
R7343:Rusc1	UTSW	3	89091750	missense	probably damaging	0.99
R8120:Rusc1	UTSW	3	89089206	missense	probably damaging	0.99
Z1177:Rusc1	UTSW	3	89089033	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CGACAGCCCCTCTGCAATAG -3'
(R):5'- ATTGGCTTCTTGTTTGAACACC -3'

Sequencing Primer
(F):5'- GCAGCCCAAGTCGATTTTTC -3'
(R):5'- CCAATTCTGGTTCGAAAATAGATGC -3'

Posted On

2019-06-26