Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Rusc1'

684458

Institutional Source

Beutler Lab

Gene Symbol

Rusc1

Ensembl Gene

ENSMUSG00000041263

Gene Name

RUN and SH3 domain containing 1

Synonyms

2210403N08Rik

MMRRC Submission

068823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88991288-89000618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88999365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 139 (E139G)

Ref Sequence

ENSEMBL: ENSMUSP00000088447 (fasta)

Gene Model

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

AlphaFold

Q8BG26

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052539
AA Change: E139G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: E139G

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: E139G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: E139G

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

possibly damaging
Transcript: ENSMUST00000200659
AA Change: E408G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: E408G

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

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,328,817 (GRCm39)	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282 (GRCm38)	D4E	probably benign	Het
Atp5if1	T	C	4: 132,260,685 (GRCm39)	D34G	probably benign	Het
Bcr	T	C	10: 74,967,404 (GRCm39)	F546S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc141	A	T	2: 76,844,739 (GRCm39)	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589 (GRCm39)	D1375G	probably damaging	Het
Chi3l1	A	T	1: 134,115,662 (GRCm39)	Q223H	probably benign	Het
Clcn2	A	T	16: 20,531,080 (GRCm39)	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,381 (GRCm39)	D464V	probably benign	Het
Crygb	T	C	1: 65,121,300 (GRCm39)	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,624,815 (GRCm39)	K438E	unknown	Het
Cyp46a1	A	T	12: 108,324,366 (GRCm39)	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,667,582 (GRCm39)		probably benign	Het
Dnase2b	G	T	3: 146,292,717 (GRCm39)	P152Q	probably damaging	Het
Duox1	A	T	2: 122,175,186 (GRCm39)	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam168b	A	G	1: 34,858,862 (GRCm39)	F102L	probably benign	Het
Fam3b	T	A	16: 97,277,594 (GRCm39)	D128V	probably damaging	Het
Galnt11	T	G	5: 25,469,983 (GRCm39)	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,316,730 (GRCm39)	R460S	probably benign	Het
Hdhd2	A	C	18: 77,058,366 (GRCm39)	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,415,995 (GRCm39)	M189T	probably damaging	Het
Ift70a1	A	T	2: 75,810,251 (GRCm39)	C611S	probably benign	Het
Ino80	A	G	2: 119,210,059 (GRCm39)	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,274,882 (GRCm39)	T467A	probably benign	Het
Kcnh2	A	G	5: 24,536,868 (GRCm39)	S239P	probably benign	Het
Lct	T	A	1: 128,228,299 (GRCm39)	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,787,227 (GRCm39)	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,921,490 (GRCm39)	D26E	probably benign	Het
Myh1	A	T	11: 67,096,607 (GRCm39)	M333L	probably benign	Het
Neurl4	T	C	11: 69,798,958 (GRCm39)	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,295,304 (GRCm39)	V80D	probably damaging	Het
Nop9	T	C	14: 55,983,438 (GRCm39)	S70P	possibly damaging	Het
Or2t46	A	G	11: 58,471,738 (GRCm39)	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,582,231 (GRCm39)	D446Y	probably damaging	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pdgfa	G	T	5: 138,971,977 (GRCm39)	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,122,307 (GRCm39)	L1133F	probably damaging	Het
Pole	A	T	5: 110,471,488 (GRCm39)	N1411Y	possibly damaging	Het
Primpol	A	G	8: 47,034,597 (GRCm39)		probably benign	Het
Psmc5	T	G	11: 106,152,787 (GRCm39)	V203G	probably damaging	Het
Ptgdr	C	T	14: 45,096,181 (GRCm39)	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,641,220 (GRCm39)	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170 (GRCm38)	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,580,907 (GRCm39)	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,296,197 (GRCm39)	T857A	probably damaging	Het
Rnf24	A	G	2: 131,155,197 (GRCm39)	F10S	possibly damaging	Het
Rreb1	C	A	13: 38,114,352 (GRCm39)	S570R	probably benign	Het
Rttn	A	G	18: 88,995,832 (GRCm39)	N205S	probably benign	Het
Scn2a	A	G	2: 65,594,242 (GRCm39)	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 106,974,907 (GRCm39)	M209L	probably damaging	Het
Shank3	A	G	15: 89,432,888 (GRCm39)	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,592,514 (GRCm39)	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,313,901 (GRCm39)	W548*	probably null	Het
Srfbp1	T	A	18: 52,609,392 (GRCm39)	L59*	probably null	Het
Ss18	A	T	18: 14,803,380 (GRCm39)	S73T	probably damaging	Het
Syne1	T	C	10: 5,135,508 (GRCm39)	K189R	probably benign	Het
Szt2	G	T	4: 118,239,985 (GRCm39)		probably benign	Het
Tbx1	T	A	16: 18,402,937 (GRCm39)	H183L	probably damaging	Het
Thop1	A	G	10: 80,915,972 (GRCm39)	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,849 (GRCm39)	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559 (GRCm39)	Y513H	probably damaging	Het
Top1	A	G	2: 160,562,921 (GRCm39)	D709G	probably damaging	Het
Tprg1l	A	C	4: 154,242,890 (GRCm39)	S247A	probably damaging	Het
Trim46	A	G	3: 89,143,692 (GRCm39)	S602P	probably damaging	Het
Ttc7b	T	C	12: 100,466,433 (GRCm39)	K60E	probably benign	Het
Ttn	G	A	2: 76,714,815 (GRCm39)	S8053F	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp24	T	A	4: 106,234,762 (GRCm39)	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Xpc	G	A	6: 91,477,956 (GRCm39)	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,260,895 (GRCm39)	M129I	probably benign	Het
Zpld2	G	A	4: 133,929,978 (GRCm39)	T109I	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
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
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
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'- ATCTTCGGTCTCTGAGAGCTC -3'
(R):5'- GGGTCCAGCATAGAAAATCAGC -3'

Sequencing Primer
(F):5'- CTCAGAGGTAGCAAGATCCTGTTC -3'
(R):5'- TCAGCAGGACCCTTCCCAG -3'

Posted On

2021-10-11