Mutagenetix > Incidental Mutations

Incidental Mutation 'R2910:Rubcnl'

261208

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

040497-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R2910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75016027-75052532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75040808 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 344 (T344I)

Ref Sequence

ENSEMBL: ENSMUSP00000045566 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036072
AA Change: T344I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045566
Gene: ENSMUSG00000034959
AA Change: T344I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228689

Meta Mutation Damage Score

0.2333

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	G	A	11: 58,608,426	Q189*	probably null	Het
Abcf3	A	G	16: 20,560,232	T645A	probably damaging	Het
Acap1	A	G	11: 69,887,076		probably benign	Het
Adgrv1	G	A	13: 81,557,119	A1524V	possibly damaging	Het
Agbl1	A	G	7: 76,419,838	N121D	probably benign	Het
Ahnak	A	G	19: 9,011,654	D3434G	probably damaging	Het
Ankrd11	A	T	8: 122,908,798	D32E	probably damaging	Het
Asxl1	T	C	2: 153,401,039	S1170P	probably benign	Het
Atp8b3	G	A	10: 80,519,912	S1322F	possibly damaging	Het
Car15	G	A	16: 17,838,142		probably benign	Het
Cep104	T	A	4: 153,995,427		probably null	Het
Cnnm1	A	G	19: 43,469,647	I633V	possibly damaging	Het
Cog8	A	T	8: 107,054,221	V135E	probably benign	Het
Cts6	A	G	13: 61,196,401	V279A	probably damaging	Het
Ddx1	C	T	12: 13,231,440		probably null	Het
Dock2	A	G	11: 34,232,910		probably benign	Het
Ero1lb	T	A	13: 12,600,289	D336E	probably damaging	Het
F11	C	G	8: 45,241,449	*625S	probably null	Het
F5	A	G	1: 164,204,820	M1779V	probably benign	Het
Fam227a	A	T	15: 79,636,734	D296E	possibly damaging	Het
Fbxo38	T	C	18: 62,519,807	D523G	probably benign	Het
Ggt1	G	A	10: 75,580,596	V275M	probably benign	Het
Gm379	A	C	X: 108,664,765	F43V	possibly damaging	Het
Grhl3	T	C	4: 135,559,146	I75V	probably benign	Het
Iqcm	A	T	8: 75,714,776	I226F	probably benign	Het
Kcnq1	T	G	7: 143,425,962	L615R	probably damaging	Het
Lcp2	G	A	11: 34,068,970		probably null	Het
Mbtps1	A	G	8: 119,546,037	I123T	possibly damaging	Het
Muc5ac	C	T	7: 141,807,641	T1563I	probably damaging	Het
Odf2l	A	C	3: 145,124,323	I19L	probably benign	Het
Olfr193	C	T	16: 59,110,181	R143H	probably benign	Het
Olfr993	T	A	2: 85,414,351	H176L	probably damaging	Het
Pigr	A	G	1: 130,849,533	D692G	probably damaging	Het
Pkd1l3	A	G	8: 109,667,636		probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Reep2	T	C	18: 34,845,690		probably null	Het
Sema6d	C	A	2: 124,665,037	P941T	probably damaging	Het
Shcbp1l	C	A	1: 153,428,626	L144I	probably damaging	Het
Slc7a1	T	C	5: 148,352,257	E60G	probably benign	Het
Snx2	C	T	18: 53,199,874	P207S	probably damaging	Het
Spata31	T	G	13: 64,920,436	S133A	probably benign	Het
Tac1	A	G	6: 7,559,097		probably null	Het
Tfpi	A	C	2: 84,444,093	V184G	possibly damaging	Het
Tmeff1	C	A	4: 48,614,961	N139K	possibly damaging	Het
Tnxb	A	G	17: 34,672,450	D589G	probably damaging	Het
Trpc1	C	A	9: 95,749,842	A16S	probably benign	Het
Vmn2r106	A	C	17: 20,278,684	L322V	probably damaging	Het
Vmn2r69	G	T	7: 85,406,710	A740D	probably 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
R2263:Rubcnl	UTSW	14	75040820	missense	possibly damaging	0.93
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
R7699:Rubcnl	UTSW	14	75031964	missense	probably benign
R7781:Rubcnl	UTSW	14	75032090	missense	probably damaging	1.00
R8406:Rubcnl	UTSW	14	75051985	missense	probably damaging	1.00
RF011:Rubcnl	UTSW	14	75044438	missense	probably damaging	0.99
Z1176:Rubcnl	UTSW	14	75036197	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GAAGGATTTGAACTCTGCTTTTCTG -3'
(R):5'- TCCATTTTGAGACTTCCTAAACACC -3'

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

Posted On

2015-01-23