Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Rbbp8nl'

296011

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbbp8nl

Ensembl Gene

ENSMUSG00000038980

Gene Name

RBBP8 N-terminal like

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

180277646-180289879 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180279329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 421 (T421A)

Ref Sequence

ENSEMBL: ENSMUSP00000047237 (fasta)

Gene Model

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

AlphaFold

A2ABX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038529
AA Change: T421A

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: T421A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,618,926	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,337,389	L674*	probably null	Het
Arhgef10	G	A	8: 14,961,238	E265K	probably damaging	Het
Cd53	A	G	3: 106,768,826	I75T	probably damaging	Het
Col26a1	A	T	5: 136,754,339	L235*	probably null	Het
Crem	G	T	18: 3,273,477	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,470,650	D344G	probably damaging	Het
Cyr61	T	C	3: 145,648,700	K152R	probably damaging	Het
Dchs1	T	C	7: 105,755,806	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,988,088	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,315,800	H1262R	probably benign	Het
Exoc2	G	T	13: 30,911,196	T239K	probably damaging	Het
Fzd6	A	T	15: 39,031,386	S316C	probably damaging	Het
Htra1	A	G	7: 130,984,974	K429R	probably benign	Het
Il1rapl2	C	T	X: 138,846,503	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,661,112		probably benign	Het
Kiz	G	A	2: 146,863,813	V98I	probably benign	Het
Klk1b24	A	T	7: 44,188,324		probably benign	Het
Lrrc30	T	A	17: 67,631,862	N241I	probably damaging	Het
Map2k4	A	G	11: 65,696,310	V288A	probably damaging	Het
Mefv	T	C	16: 3,713,577	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,608,054	Q115K	probably benign	Het
Msra	A	G	14: 64,285,188		probably benign	Het
Myh8	G	A	11: 67,305,710	R1752H	probably benign	Het
Nrp1	T	C	8: 128,425,799	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,135,330	Y60F	probably damaging	Het
Pax6	G	T	2: 105,692,770	R317L	probably benign	Het
Pcdh17	A	G	14: 84,533,469	E1129G	probably benign	Het
Phlpp2	C	T	8: 109,913,618	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prkce	A	G	17: 86,168,914	N108D	probably benign	Het
Prkdc	T	G	16: 15,714,282		probably null	Het
Ptprm	T	C	17: 66,920,048	Y702C	probably damaging	Het
Retnlg	A	T	16: 48,872,960	L33F	probably benign	Het
Slc16a7	T	A	10: 125,230,933	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,388,713	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	C	A	6: 48,478,379	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,667,323		probably null	Het
Txnrd1	T	G	10: 82,879,217	W98G	probably damaging	Het
Ulk1	A	T	5: 110,809,134	I66N	probably damaging	Het
Ush2a	A	G	1: 188,822,696	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,428,226	H172L	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	A	7: 81,041,726	C1218S	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
IGL02217:Rbbp8nl	APN	2	180278188	unclassified	probably benign
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
R8944:Rbbp8nl	UTSW	2	180277976	nonsense	probably null
R9279:Rbbp8nl	UTSW	2	180279101	critical splice donor site	probably null
R9352:Rbbp8nl	UTSW	2	180279260	missense	probably benign	0.00
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