Mutagenetix > Incidental Mutations

Incidental Mutation 'V7581:Rbbp8nl'

152541

Institutional Source

Beutler Lab

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: 0.055) question?

Stock #

V7581 () of strain stinger

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

180277646-180289879 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180278208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 558 (T558S)

Ref Sequence

ENSEMBL: ENSMUSP00000047237 (fasta)

Gene Model

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

AlphaFold

A2ABX0

Predicted Effect

probably benign
Transcript: ENSMUST00000038529
AA Change: T558S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: T558S

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

Meta Mutation Damage Score

0.1232

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Abcb10	GGCCATCG	GG	8: 123,969,761		probably benign	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Clasp1	G	A	1: 118,581,348	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Glrx3	A	G	7: 137,459,153	H172R	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Hira	G	A	16: 18,894,821	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr480	G	T	7: 108,066,678	T40K	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,528,476	W274C	probably damaging	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Slc5a6	C	T	5: 31,042,613		probably null	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tmc3	T	C	7: 83,622,505	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Vmn2r68	C	T	7: 85,221,880	V732I	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	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
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
V7582:Rbbp8nl	UTSW	2	180278208	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCTATCAGGCTCCAACTGGAACCC -3'
(R):5'- AGCCCCTCTATGTCCTCATCTGAAG -3'

Sequencing Primer
(F):5'- GGAACCCAGATGCTATTCTCCAG -3'
(R):5'- GTCCTCATCTGAAGAGTCATTATTC -3'

Posted On

2014-01-29