Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02217:Rbbp8nl'

284961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbbp8nl

Ensembl Gene

ENSMUSG00000038980

Gene Name

RBBP8 N-terminal like

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02217

Quality Score

Status

Chromosome

Chromosomal Location

180277646-180289879 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 180278188 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038529] [ENSMUST00000108891]

Predicted Effect

probably benign
Transcript: ENSMUST00000038529

SMART Domains

Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980

Domain	Start	End	E-Value	Type
Pfam:CtIP_N	4	123	5.6e-56	PFAM
low complexity region	143	154	N/A	INTRINSIC
low complexity region	157	172	N/A	INTRINSIC
low complexity region	237	250	N/A	INTRINSIC
low complexity region	282	296	N/A	INTRINSIC
low complexity region	352	361	N/A	INTRINSIC
low complexity region	365	379	N/A	INTRINSIC
low complexity region	585	590	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108891

SMART Domains

Protein: ENSMUSP00000104519
Gene: ENSMUSG00000038990

Domain	Start	End	E-Value	Type
low complexity region	2	39	N/A	INTRINSIC
low complexity region	58	102	N/A	INTRINSIC
low complexity region	116	121	N/A	INTRINSIC
low complexity region	262	276	N/A	INTRINSIC
CYCLIN	365	452	1.55e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136706

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,470,898		probably benign	Het
Actn1	G	A	12: 80,174,094	Q647*	probably null	Het
Adamts6	T	A	13: 104,462,365		probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cabin1	G	A	10: 75,700,047	T1389I	possibly damaging	Het
Cenpc1	A	G	5: 86,029,200		probably benign	Het
Clca4a	T	A	3: 144,961,996	T405S	possibly damaging	Het
Cntln	G	A	4: 85,100,258	V1168M	probably damaging	Het
Col18a1	A	G	10: 77,053,298	S1494P	probably damaging	Het
Cps1	A	T	1: 67,174,382	T758S	probably benign	Het
Cul3	A	T	1: 80,283,767	M247K	probably damaging	Het
Cyp3a57	A	G	5: 145,369,143		probably null	Het
Dennd4c	T	A	4: 86,813,799	C917S	probably benign	Het
Dhrs11	A	T	11: 84,822,395	Y166*	probably null	Het
Dtl	A	G	1: 191,568,314	V146A	probably damaging	Het
Exosc9	A	G	3: 36,552,744	E20G	probably damaging	Het
Fer	A	G	17: 64,138,965	K437R	probably benign	Het
Fkbp6	A	T	5: 135,337,630	V284E	probably benign	Het
Foxq1	A	T	13: 31,559,169	S85C	probably damaging	Het
Galnt12	T	A	4: 47,113,832	S83R	probably damaging	Het
Gm5244	A	T	19: 12,846,863		noncoding transcript	Het
Gm765	T	A	6: 98,248,072	E83D	possibly damaging	Het
Gm884	T	C	11: 103,612,871		probably benign	Het
Gpr156	A	G	16: 38,005,311	D630G	probably benign	Het
Hace1	A	T	10: 45,590,375		probably null	Het
Hemgn	G	T	4: 46,396,420	T272K	probably damaging	Het
Ifi213	T	G	1: 173,595,032	E89A	possibly damaging	Het
Jarid2	A	G	13: 44,913,201	E954G	probably damaging	Het
Kcnu1	A	G	8: 25,858,184	D126G	probably damaging	Het
Lbh	A	T	17: 72,921,252	I31F	possibly damaging	Het
Muc6	T	C	7: 141,649,624	E490G	probably damaging	Het
Ncoa3	T	C	2: 166,055,346	S686P	probably damaging	Het
Nme4	A	G	17: 26,093,860	M108T	probably damaging	Het
Nod1	A	C	6: 54,943,419	V638G	possibly damaging	Het
Nrip2	A	G	6: 128,406,539	N70S	probably damaging	Het
Olfr1111	A	G	2: 87,149,887	M258T	probably benign	Het
Olfr1344	T	A	7: 6,440,245	I115N	probably damaging	Het
Pitrm1	G	A	13: 6,567,341		probably benign	Het
Proser1	A	G	3: 53,471,491	K115E	probably damaging	Het
Ptov1	C	T	7: 44,867,476	G70R	probably damaging	Het
Qtrt1	T	G	9: 21,417,389		probably null	Het
Rtn3	G	A	19: 7,435,084	T794I	probably damaging	Het
Setd4	A	G	16: 93,593,295	L82P	probably damaging	Het
Shank2	C	T	7: 144,285,047	L27F	possibly damaging	Het
Srpk2	A	C	5: 23,545,570	V45G	probably damaging	Het
Utrn	A	G	10: 12,751,559	F57S	probably damaging	Het
Vcan	T	G	13: 89,703,077	T1255P	probably damaging	Het
Vmn2r16	A	C	5: 109,339,810	H183P	probably damaging	Het
Wdr48	T	C	9: 119,909,535	I286T	probably benign	Het

Other mutations in Rbbp8nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Rbbp8nl	APN	2	180279695	missense	probably benign	0.01
IGL01845:Rbbp8nl	APN	2	180283311	missense	probably damaging	0.99
IGL01966:Rbbp8nl	APN	2	180280989	splice site	probably benign
IGL02500:Rbbp8nl	APN	2	180279329	missense	possibly damaging	0.57
IGL02623:Rbbp8nl	APN	2	180281443	missense	probably damaging	0.99
IGL02634:Rbbp8nl	APN	2	180280895	missense	probably benign	0.00
F5770:Rbbp8nl	UTSW	2	180278208	missense	probably benign	0.03
R0380:Rbbp8nl	UTSW	2	180281719	missense	probably damaging	0.96
R1773:Rbbp8nl	UTSW	2	180281194	missense	probably benign	0.00
R1858:Rbbp8nl	UTSW	2	180282213	splice site	probably benign
R1901:Rbbp8nl	UTSW	2	180283313	missense	probably damaging	1.00
R1962:Rbbp8nl	UTSW	2	180280874	missense	probably benign	0.03
R2423:Rbbp8nl	UTSW	2	180280971	missense	probably damaging	0.98
R2495:Rbbp8nl	UTSW	2	180279102	missense	probably null	0.31
R3738:Rbbp8nl	UTSW	2	180281248	missense	probably benign	0.37
R4460:Rbbp8nl	UTSW	2	180280971	missense	probably benign	0.41
R4502:Rbbp8nl	UTSW	2	180279196	missense	possibly damaging	0.48
R5573:Rbbp8nl	UTSW	2	180279793	missense	possibly damaging	0.95
R5699:Rbbp8nl	UTSW	2	180278668	missense	probably damaging	0.98
R6242:Rbbp8nl	UTSW	2	180280974	missense	probably damaging	1.00
R6269:Rbbp8nl	UTSW	2	180281512	nonsense	probably null
R6586:Rbbp8nl	UTSW	2	180280959	missense	probably damaging	1.00
R6875:Rbbp8nl	UTSW	2	180279226	missense	probably benign	0.00
R8055:Rbbp8nl	UTSW	2	180278208	missense	probably benign	0.00
R8344:Rbbp8nl	UTSW	2	180279713	missense	probably benign	0.18
V7581:Rbbp8nl	UTSW	2	180278208	missense	probably benign	0.03
V7582:Rbbp8nl	UTSW	2	180278208	missense	probably benign	0.03

Posted On

2015-04-16