Mutagenetix > Incidental Mutation

Incidental Mutation 'R1846:Rusc1'

207705

Institutional Source

Beutler Lab

Gene Symbol

Rusc1

Ensembl Gene

ENSMUSG00000041263

Gene Name

RUN and SH3 domain containing 1

Synonyms

2210403N08Rik

MMRRC Submission

039871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88991288-89000618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88999452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 110 (D110G)

Ref Sequence

ENSEMBL: ENSMUSP00000088447 (fasta)

Gene Model

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

AlphaFold

Q8BG26

Predicted Effect

probably damaging
Transcript: ENSMUST00000052539
AA Change: D110G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: D110G

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 damaging
Transcript: ENSMUST00000090929
AA Change: D110G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: D110G

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

possibly damaging
Transcript: ENSMUST00000200659
AA Change: D379G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: D379G

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

noncoding transcript
Transcript: ENSMUST00000200357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200433

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: 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

Meta Mutation Damage Score

0.1078

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	A	7: 12,246,809 (GRCm39)	R63Q	probably benign	Het
Adamts20	A	T	15: 94,243,871 (GRCm39)	C619S	probably damaging	Het
Alx1	T	C	10: 102,861,165 (GRCm39)	D121G	possibly damaging	Het
Anks3	A	C	16: 4,771,748 (GRCm39)	M215R	probably benign	Het
Anxa4	T	A	6: 86,718,893 (GRCm39)		probably null	Het
Arhgef25	A	G	10: 127,021,733 (GRCm39)	V222A	probably damaging	Het
Bglap2	A	G	3: 88,285,932 (GRCm39)		probably benign	Het
Cars2	A	G	8: 11,564,674 (GRCm39)	V22A	probably benign	Het
Ccdc198	G	T	14: 49,473,420 (GRCm39)	L102I	probably damaging	Het
Cenpe	T	A	3: 134,945,606 (GRCm39)	I1040N	probably damaging	Het
Cep170	C	T	1: 176,583,335 (GRCm39)	D1015N	probably damaging	Het
Chia1	T	A	3: 106,038,181 (GRCm39)	I359N	probably damaging	Het
Crot	A	T	5: 9,038,248 (GRCm39)	V93E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnmbp	T	C	19: 43,891,186 (GRCm39)	I194V	probably damaging	Het
Dock4	T	A	12: 40,783,267 (GRCm39)	C734S	probably benign	Het
Eif4e3	T	C	6: 99,617,662 (GRCm39)	S70G	probably benign	Het
Entpd3	G	A	9: 120,387,441 (GRCm39)	D213N	probably benign	Het
Ern2	T	G	7: 121,775,759 (GRCm39)	Y445S	probably benign	Het
Fasn	A	G	11: 120,704,133 (GRCm39)	S1429P	probably benign	Het
Fat4	A	G	3: 39,036,532 (GRCm39)	I3395V	probably benign	Het
Fbln2	C	A	6: 91,233,399 (GRCm39)	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,153,845 (GRCm39)	N164D	probably benign	Het
Fez1	T	C	9: 36,779,063 (GRCm39)	S247P	probably damaging	Het
Gars1	A	G	6: 55,040,153 (GRCm39)	D360G	probably benign	Het
Gcfc2	A	T	6: 81,933,873 (GRCm39)	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,446,376 (GRCm39)		probably null	Het
Glp1r	A	G	17: 31,148,909 (GRCm39)		probably null	Het
Hspa14	T	C	2: 3,492,697 (GRCm39)	D356G	possibly damaging	Het
Htt	T	A	5: 35,006,288 (GRCm39)	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,704,484 (GRCm39)		probably benign	Het
Krt36	C	A	11: 99,996,374 (GRCm39)	G17C	probably damaging	Het
Lama2	T	C	10: 27,088,092 (GRCm39)	E895G	probably damaging	Het
Lamb2	G	A	9: 108,364,586 (GRCm39)	R1142H	probably benign	Het
Lhcgr	C	T	17: 89,072,575 (GRCm39)		probably null	Het
Lpin2	A	G	17: 71,532,064 (GRCm39)	T140A	probably benign	Het
Metap1	A	G	3: 138,186,443 (GRCm39)		probably benign	Het
Mpeg1	T	C	19: 12,440,486 (GRCm39)	V648A	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369 (GRCm38)	I749N	probably benign	Het
N4bp2	T	C	5: 65,965,862 (GRCm39)	F1304L	probably damaging	Het
Nup85	A	G	11: 115,459,239 (GRCm39)	E114G	probably benign	Het
Or2a5	A	G	6: 42,874,254 (GRCm39)	S290G	probably damaging	Het
Or4c10	A	G	2: 89,761,010 (GRCm39)	T286A	possibly damaging	Het
Or6b2b	A	T	1: 92,418,822 (GRCm39)	Y218*	probably null	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,052,843 (GRCm39)	C145*	probably null	Het
Plpp6	T	C	19: 28,941,680 (GRCm39)	S94P	probably benign	Het
Polr1a	T	C	6: 71,953,172 (GRCm39)	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,574,043 (GRCm39)	V860E	probably damaging	Het
Ppp1r17	A	G	6: 55,999,412 (GRCm39)	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,786,831 (GRCm39)	W133R	probably damaging	Het
Ptk7	A	G	17: 46,887,416 (GRCm39)		probably null	Het
Rad23b	C	T	4: 55,383,637 (GRCm39)	Q290*	probably null	Het
Rorb	C	T	19: 18,932,445 (GRCm39)	E369K	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Stt3a	C	T	9: 36,674,681 (GRCm39)	R34H	probably damaging	Het
Sufu	T	A	19: 46,439,386 (GRCm39)	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,540,993 (GRCm39)	R289Q	probably damaging	Het
Tph1	A	T	7: 46,309,863 (GRCm39)	S130T	probably damaging	Het
Ttn	A	G	2: 76,776,030 (GRCm39)	S1671P	probably damaging	Het
Usp4	A	G	9: 108,249,935 (GRCm39)	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,013,413 (GRCm39)	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,578,357 (GRCm39)	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,438,546 (GRCm39)	P97S	probably damaging	Het
Zbtb40	T	C	4: 136,735,150 (GRCm39)	D297G	probably benign	Het
Zfp174	C	A	16: 3,672,599 (GRCm39)	Q383K	probably benign	Het
Zfp318	T	A	17: 46,724,592 (GRCm39)	D2198E	probably benign	Het
Zfp628	C	T	7: 4,923,866 (GRCm39)	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,409,112 (GRCm39)	N1695K	probably damaging	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
R2060:Rusc1	UTSW	3	88,995,155 (GRCm39)	missense	possibly damaging	0.86
R2114:Rusc1	UTSW	3	88,999,014 (GRCm39)	missense	probably benign
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'- GGTCCAGGTGGAGAAGATATTCC -3'
(R):5'- ACATCCATCTCCAGCATGTC -3'

Sequencing Primer
(F):5'- CCAGGTGGAGAAGATATTCCAGAGC -3'
(R):5'- GCCGTCCTGAACTACGAGAG -3'

Posted On

2014-06-23