Mutagenetix > Incidental Mutations

Incidental Mutation 'R2263:Rubcnl'

243950

Institutional Source

Beutler Lab

Gene Symbol

Rubcnl

Ensembl Gene

ENSMUSG00000034959

Gene Name

RUN and cysteine rich domain containing beclin 1 interacting protein like

Synonyms

LOC380917, 5031414D18Rik

MMRRC Submission

040263-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R2263 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75016027-75052532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75040820 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 348 (N348I)

Ref Sequence

ENSEMBL: ENSMUSP00000045566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036072]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036072
AA Change: N348I

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045566
Gene: ENSMUSG00000034959
AA Change: N348I

Domain	Start	End	E-Value	Type
DUF4206	463	664	1.01e-108	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228689

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	T	C	7: 29,532,562		noncoding transcript	Het
9130011E15Rik	A	G	19: 45,932,349		probably null	Het
Abca13	T	C	11: 9,274,702	S472P	probably benign	Het
Arsi	T	C	18: 60,916,665	Y207H	probably damaging	Het
Atp2b4	C	T	1: 133,726,533	R778Q	probably benign	Het
Bdp1	T	A	13: 100,066,037	D693V	probably damaging	Het
Car12	C	A	9: 66,747,631	Y114*	probably null	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col4a1	A	G	8: 11,312,586		probably benign	Het
Cryl1	G	T	14: 57,286,408	Y232*	probably null	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,673,835	N798S	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Ehbp1	A	T	11: 22,095,462	N737K	probably benign	Het
Eif2b4	T	C	5: 31,192,574		probably benign	Het
Fat4	T	C	3: 38,888,989	V677A	possibly damaging	Het
Fbn2	A	G	18: 58,095,176		probably benign	Het
Fbxl3	G	T	14: 103,083,212	Y314*	probably null	Het
Fgf12	T	A	16: 28,189,611	K84*	probably null	Het
Flt3	G	A	5: 147,348,063	P748L	probably benign	Het
Folh1	C	T	7: 86,719,765	S685N	probably benign	Het
Gm13119	A	G	4: 144,363,541	I384V	probably benign	Het
Gpr65	A	T	12: 98,275,235	N49I	probably damaging	Het
Hdac7	A	G	15: 97,810,851		probably null	Het
Heatr5a	A	T	12: 51,916,150	V989E	probably damaging	Het
Ikbkap	A	G	4: 56,755,298		probably null	Het
Kif12	A	G	4: 63,169,521	S242P	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mia3	A	G	1: 183,334,793	Y295H	probably benign	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Nmur2	A	T	11: 56,029,561	V286E	probably damaging	Het
Olfr1378	G	A	11: 50,969,869	V284I	possibly damaging	Het
Olfr20	T	A	11: 73,354,305	L184Q	possibly damaging	Het
Olfr574	T	C	7: 102,949,257	F254S	probably damaging	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Prex1	A	T	2: 166,589,068		probably benign	Het
Prim1	T	A	10: 128,015,263	D5E	probably benign	Het
Shisa9	G	T	16: 11,984,767	A63S	possibly damaging	Het
Shpk	G	A	11: 73,206,493		probably benign	Het
Slx4ip	T	C	2: 137,044,015	I85T	probably damaging	Het
Sptbn4	T	A	7: 27,434,357	D77V	probably damaging	Het
Strn3	A	T	12: 51,643,223		probably null	Het
Synrg	T	C	11: 83,977,152	M61T	possibly damaging	Het
Tekt4	T	A	17: 25,476,511	S439R	possibly damaging	Het
Ticam1	A	T	17: 56,271,888	V69E	possibly damaging	Het
Trpv1	C	T	11: 73,241,682	A374V	probably damaging	Het
Ubqln3	A	T	7: 104,141,635	L416*	probably null	Het
Uqcrfs1	G	A	13: 30,541,107	S150L	probably benign	Het
Utp15	T	C	13: 98,257,925	N153S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Vps13b	T	A	15: 35,646,181	V1477E	probably benign	Het
Xpo1	T	A	11: 23,284,634		probably null	Het
Xpo5	A	G	17: 46,230,343	I769V	probably benign	Het
Zc3h14	A	T	12: 98,758,514	H252L	probably benign	Het
Zfp410	G	T	12: 84,323,020		probably null	Het
Zfp521	T	C	18: 13,846,240	E372G	possibly damaging	Het

Other mutations in Rubcnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02571:Rubcnl	APN	14	75032136	missense	possibly damaging	0.75
IGL02730:Rubcnl	APN	14	75050148	missense	probably damaging	1.00
R0019:Rubcnl	UTSW	14	75048263	splice site	probably benign
R0147:Rubcnl	UTSW	14	75042458	missense	probably damaging	1.00
R0148:Rubcnl	UTSW	14	75042458	missense	probably damaging	1.00
R0350:Rubcnl	UTSW	14	75040891	missense	probably damaging	0.99
R0487:Rubcnl	UTSW	14	75036081	missense	probably benign	0.18
R0558:Rubcnl	UTSW	14	75047547	missense	probably damaging	1.00
R1537:Rubcnl	UTSW	14	75040827	missense	possibly damaging	0.92
R1791:Rubcnl	UTSW	14	75047549	missense	probably damaging	1.00
R1871:Rubcnl	UTSW	14	75042409	missense	possibly damaging	0.58
R2227:Rubcnl	UTSW	14	75042392	missense	probably benign	0.00
R2910:Rubcnl	UTSW	14	75040808	missense	probably benign	0.06
R2911:Rubcnl	UTSW	14	75040808	missense	probably benign	0.06
R3826:Rubcnl	UTSW	14	75032225	missense	possibly damaging	0.72
R3870:Rubcnl	UTSW	14	75040916	missense	probably benign	0.00
R3871:Rubcnl	UTSW	14	75040916	missense	probably benign	0.00
R4007:Rubcnl	UTSW	14	75049703	missense	possibly damaging	0.93
R4161:Rubcnl	UTSW	14	75044458	missense	possibly damaging	0.82
R5004:Rubcnl	UTSW	14	75032177	nonsense	probably null
R5041:Rubcnl	UTSW	14	75050132	missense	probably damaging	1.00
R5468:Rubcnl	UTSW	14	75032031	missense	possibly damaging	0.49
R5495:Rubcnl	UTSW	14	75042337	missense	possibly damaging	0.61
R5739:Rubcnl	UTSW	14	75040941	splice site	probably null
R5910:Rubcnl	UTSW	14	75035472	missense	probably benign	0.26
R5948:Rubcnl	UTSW	14	75047616	missense	probably damaging	1.00
R6038:Rubcnl	UTSW	14	75031970	missense	probably benign	0.00
R6038:Rubcnl	UTSW	14	75031970	missense	probably benign	0.00
R6197:Rubcnl	UTSW	14	75031929	missense	probably damaging	0.99
R6297:Rubcnl	UTSW	14	75050144	missense	probably benign	0.06
R6372:Rubcnl	UTSW	14	75047569	missense	probably damaging	0.99
R6376:Rubcnl	UTSW	14	75032394	missense	probably benign	0.01
R6377:Rubcnl	UTSW	14	75050195	splice site	probably null
R6724:Rubcnl	UTSW	14	75052010	missense	probably benign	0.00
R6884:Rubcnl	UTSW	14	75035470	missense	probably benign	0.23
R7183:Rubcnl	UTSW	14	75049626	missense	probably damaging	0.97
R7186:Rubcnl	UTSW	14	75032013	missense	possibly damaging	0.91
R7345:Rubcnl	UTSW	14	75042353	missense	probably benign
R7423:Rubcnl	UTSW	14	75049643	missense	probably benign	0.09
R7548:Rubcnl	UTSW	14	75042352	missense	probably benign
R7606:Rubcnl	UTSW	14	75038874	missense	probably benign	0.41
R7781:Rubcnl	UTSW	14	75032090	missense	probably damaging	1.00
RF011:Rubcnl	UTSW	14	75044438	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGATTTGAACTCTGCTTTTCTGAC -3'
(R):5'- GACTGCTCATATCCATTTTGAGAC -3'

Sequencing Primer
(F):5'- GCTTTTCTGACTTTAAATGCAGTAC -3'
(R):5'- TATTTGAATGGAGCAGGCCAGTG -3'

Posted On

2014-10-16