Mutagenetix > Incidental Mutations

Incidental Mutation 'R2423:Rbbp8nl'

249427

Institutional Source

Beutler Lab

Gene Symbol

Rbbp8nl

Ensembl Gene

ENSMUSG00000038980

Gene Name

RBBP8 N-terminal like

Synonyms

MMRRC Submission

040385-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R2423 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180277646-180289879 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180280971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 210 (S210T)

Ref Sequence

ENSEMBL: ENSMUSP00000047237 (fasta)

Gene Model

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

AlphaFold

A2ABX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038529
AA Change: S210T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: S210T

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amer2	T	C	14: 60,379,207	S284P	possibly damaging	Het
Ap5z1	T	C	5: 142,476,777	V614A	probably benign	Het
Arhgap9	A	T	10: 127,327,124		probably null	Het
Brf1	G	A	12: 113,000,199	A53V	probably benign	Het
Cyp1a2	C	T	9: 57,679,949	R353Q	probably damaging	Het
Deup1	G	T	9: 15,592,458	S269*	probably null	Het
F11r	T	A	1: 171,461,623	Y218N	possibly damaging	Het
Gjd4	G	T	18: 9,280,811	S89*	probably null	Het
Mapkbp1	A	T	2: 120,024,590	E1430V	probably benign	Het
Mga	A	G	2: 119,964,793	K2986R	probably damaging	Het
Myo9b	G	T	8: 71,327,940	V494L	probably damaging	Het
Nbea	G	A	3: 56,085,306	T293I	probably damaging	Het
Neto2	C	T	8: 85,669,767	R83Q	probably damaging	Het
Ocm	A	T	5: 144,024,570		probably null	Het
Olfr619	C	T	7: 103,604,034	R127C	probably benign	Het
Pcdha11	T	C	18: 37,007,424	I702T	possibly damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Rbl2	A	T	8: 91,087,146	I340F	probably benign	Het
Rft1	T	C	14: 30,666,767	L216P	possibly damaging	Het
Slc26a10	T	A	10: 127,179,737		probably null	Het
Slc34a1	G	A	13: 55,409,052	A235T	possibly damaging	Het
Spag17	A	G	3: 100,103,456	T2089A	probably benign	Het
Srek1	G	C	13: 103,753,028	S260*	probably null	Het
Sspo	T	C	6: 48,454,055	V624A	probably benign	Het
Tapt1	T	C	5: 44,192,453	I251V	probably benign	Het
Tmem248	T	C	5: 130,229,562	I32T	probably damaging	Het
Tnk1	T	G	11: 69,855,761	T209P	probably damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,814,790		probably null	Het
Trp53tg5	T	A	2: 164,471,330	R142*	probably null	Het
Upf1	C	T	8: 70,338,460	R544H	probably damaging	Het
Vldlr	C	T	19: 27,236,288	T125I	possibly damaging	Het
Vps8	A	G	16: 21,559,337	T1033A	probably benign	Het
Wiz	A	C	17: 32,361,885	H197Q	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGTTGTTCCCAGTGGTG -3'
(R):5'- ATGGTAAGGATGTAACTCCTGACC -3'

Sequencing Primer
(F):5'- CAGTGGTGGGGGTGACAC -3'
(R):5'- ACACTGCGTGCCTTCCAG -3'

Posted On

2014-11-12