Mutagenetix > Incidental Mutation

Incidental Mutation 'R4762:Rusc1'

356936

Institutional Source

Beutler Lab

Gene Symbol

Rusc1

Ensembl Gene

ENSMUSG00000041263

Gene Name

RUN and SH3 domain containing 1

Synonyms

2210403N08Rik

MMRRC Submission

042403-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88991288-89000618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88998949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 278 (S278A)

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: S278A

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

SMART Domains

Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: S278A

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: S278A

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

SMART Domains

Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: S278A

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: ENSMUST00000198506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200357

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	T	C	1: 158,797,126 (GRCm39)		noncoding transcript	Het
2310030G06Rik	T	C	9: 50,651,967 (GRCm39)	E87G	probably damaging	Het
Aknad1	A	T	3: 108,682,547 (GRCm39)	H541L	possibly damaging	Het
Asb15	A	G	6: 24,567,236 (GRCm39)	E519G	possibly damaging	Het
Atad2	T	C	15: 57,971,758 (GRCm39)	D373G	probably benign	Het
Bbs12	G	A	3: 37,374,529 (GRCm39)	V326M	probably damaging	Het
Birc6	T	C	17: 74,936,484 (GRCm39)	I2617T	probably damaging	Het
Brca2	A	G	5: 150,454,581 (GRCm39)	T115A	probably benign	Het
Casz1	T	C	4: 149,023,438 (GRCm39)	L495P	probably damaging	Het
Ccdc30	T	A	4: 119,190,785 (GRCm39)	I481F	probably damaging	Het
Cept1	A	T	3: 106,446,677 (GRCm39)	Y56*	probably null	Het
Cfap54	A	C	10: 92,897,315 (GRCm39)		probably null	Het
Cyp2j8	G	T	4: 96,358,886 (GRCm39)	D344E	probably damaging	Het
Dido1	A	T	2: 180,331,368 (GRCm39)	W27R	probably damaging	Het
Disp3	A	G	4: 148,356,575 (GRCm39)	I95T	probably damaging	Het
Engase	G	T	11: 118,377,920 (GRCm39)	V237F	possibly damaging	Het
Ephb6	G	A	6: 41,595,094 (GRCm39)	E703K	probably damaging	Het
Fnip1	T	A	11: 54,356,997 (GRCm39)	F35L	probably damaging	Het
Fnip1	A	T	11: 54,390,352 (GRCm39)	T440S	probably benign	Het
Fras1	T	A	5: 96,879,477 (GRCm39)	H2431Q	probably benign	Het
Fzd4	A	T	7: 89,056,924 (GRCm39)	T324S	probably damaging	Het
Gm10192	C	G	4: 97,071,345 (GRCm39)	S20T	probably null	Het
Gpr84	A	T	15: 103,217,027 (GRCm39)	V350E	probably damaging	Het
Gsto2	T	C	19: 47,863,312 (GRCm39)	Y63H	probably damaging	Het
Gtpbp6	T	C	5: 110,252,186 (GRCm39)	T449A	probably damaging	Het
Herc2	G	A	7: 55,820,388 (GRCm39)	V2876I	probably benign	Het
Hnrnpa3	A	G	2: 75,492,351 (GRCm39)	I152V	possibly damaging	Het
Hpse2	T	C	19: 42,777,510 (GRCm39)	D552G	possibly damaging	Het
Itfg1	A	G	8: 86,459,070 (GRCm39)	V460A	possibly damaging	Het
Jhy	G	A	9: 40,822,494 (GRCm39)	A548V	probably benign	Het
Klhl21	T	A	4: 152,094,268 (GRCm39)	L290Q	possibly damaging	Het
Knl1	T	C	2: 118,902,417 (GRCm39)	S1373P	probably benign	Het
Kpna2	A	C	11: 106,881,085 (GRCm39)	M426R	probably benign	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Lpar1	T	G	4: 58,437,346 (GRCm39)	H361P	possibly damaging	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Mfsd13b	T	C	7: 120,590,549 (GRCm39)	F97L	probably damaging	Het
Mmp15	A	G	8: 96,098,958 (GRCm39)	K595R	probably benign	Het
Mrps25	C	T	6: 92,152,085 (GRCm39)	G145D	probably damaging	Het
Muc4	T	A	16: 32,574,916 (GRCm39)		probably benign	Het
Napa	A	T	7: 15,849,196 (GRCm39)	K245N	probably benign	Het
Or10p1	C	A	10: 129,444,043 (GRCm39)	M102I	probably damaging	Het
Or14c39	A	G	7: 86,344,329 (GRCm39)	T222A	probably benign	Het
Or2y1c	A	T	11: 49,361,112 (GRCm39)	I45F	probably damaging	Het
Or4g17	G	A	2: 111,210,082 (GRCm39)	V246M	probably damaging	Het
Or4k39	T	A	2: 111,239,225 (GRCm39)		noncoding transcript	Het
Or5au1	T	A	14: 52,272,921 (GRCm39)	I216F	possibly damaging	Het
Or8c20	A	G	9: 38,260,577 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,381 (GRCm39)	S264P	possibly damaging	Het
Papss2	A	T	19: 32,616,378 (GRCm39)	T195S	probably benign	Het
Parp4	T	A	14: 56,848,267 (GRCm39)	H694Q	probably damaging	Het
Patj	C	T	4: 98,293,807 (GRCm39)	R20*	probably null	Het
Pcdhgb8	T	A	18: 37,895,419 (GRCm39)	V163E	probably damaging	Het
Pkd2l1	T	A	19: 44,144,060 (GRCm39)	T338S	probably benign	Het
Ppargc1b	A	T	18: 61,444,328 (GRCm39)	S278R	possibly damaging	Het
Ppl	T	C	16: 4,906,846 (GRCm39)	T1150A	probably benign	Het
Ralgds	A	G	2: 28,442,164 (GRCm39)	D858G	probably damaging	Het
Rassf2	G	A	2: 131,844,783 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,240,971 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,375,623 (GRCm39)	N546S	probably benign	Het
Sct	A	C	7: 140,858,954 (GRCm39)		probably benign	Het
Slc22a12	T	G	19: 6,588,474 (GRCm39)	H348P	probably benign	Het
Slc25a15	A	G	8: 22,873,248 (GRCm39)	S143P	probably damaging	Het
Slc26a11	C	A	11: 119,247,657 (GRCm39)		probably benign	Het
Slc6a20b	A	G	9: 123,427,625 (GRCm39)	M428T	probably damaging	Het
Smim17	G	A	7: 6,432,321 (GRCm39)	V88M	probably damaging	Het
Smoc1	G	T	12: 81,214,425 (GRCm39)	W269L	probably damaging	Het
Sox5	C	T	6: 143,807,109 (GRCm39)		probably null	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Sptbn5	T	A	2: 119,907,703 (GRCm39)		noncoding transcript	Het
Sun5	G	A	2: 153,707,283 (GRCm39)	R132*	probably null	Het
Tedc2	A	G	17: 24,435,354 (GRCm39)	V345A	probably benign	Het
Tlr6	T	A	5: 65,111,739 (GRCm39)	R389S	probably benign	Het
Ttc17	G	T	2: 94,202,113 (GRCm39)	H396Q	probably damaging	Het
Ttn	A	G	2: 76,773,383 (GRCm39)	S2340P	probably damaging	Het
Vmn1r219	C	T	13: 23,346,999 (GRCm39)	Q63*	probably null	Het
Vmn1r224	A	G	17: 20,639,902 (GRCm39)	T160A	possibly damaging	Het
Vmn2r11	T	C	5: 109,195,436 (GRCm39)	N630S	probably damaging	Het
Zfp1005	T	A	2: 150,109,549 (GRCm39)	C80S	possibly damaging	Het
Zfp747	A	G	7: 126,973,498 (GRCm39)	V224A	possibly damaging	Het
Zfp804b	T	C	5: 6,822,250 (GRCm39)	N271S	probably benign	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
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
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'- TGTCGGGCGAGAAGACTATG -3'
(R):5'- AGCTCTCAGAGACCGAAGATG -3'

Sequencing Primer
(F):5'- GAAGACTATGAGCCAGTCGC -3'
(R):5'- CTCAGAGACCGAAGATGGGAGAATC -3'

Posted On

2015-11-11