Mutagenetix > Incidental Mutation

Incidental Mutation 'R9279:Rbbp8nl'

703490

Institutional Source

Beutler Lab

Gene Symbol

Rbbp8nl

Ensembl Gene

ENSMUSG00000038980

Gene Name

RBBP8 N-terminal like

Synonyms

BC066135

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179919439-179931672 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 179920894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047237 (fasta)

Gene Model

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

AlphaFold

A2ABX0

Predicted Effect

probably null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr7a5	A	T	4: 139,044,079 (GRCm39)	H225L	possibly damaging	Het
Arhgap32	C	A	9: 32,168,655 (GRCm39)	H879Q	probably benign	Het
Axin2	A	G	11: 108,833,128 (GRCm39)	I438V	possibly damaging	Het
Btbd18	T	A	2: 84,491,920 (GRCm39)	C34S	probably damaging	Het
Carns1	G	T	19: 4,216,256 (GRCm39)	T642N	possibly damaging	Het
Casp8	T	C	1: 58,883,542 (GRCm39)	I283T	probably benign	Het
Ccdc136	T	A	6: 29,421,982 (GRCm39)		probably benign	Het
Ccnk	C	A	12: 108,161,946 (GRCm39)	Q284K	unknown	Het
Ceacam12	T	A	7: 17,801,177 (GRCm39)	L52H	probably damaging	Het
Cit	G	A	5: 116,065,970 (GRCm39)	D540N	probably damaging	Het
Cntnap1	T	C	11: 101,072,121 (GRCm39)	V458A	probably damaging	Het
Col6a5	T	A	9: 105,758,976 (GRCm39)	I2077F	probably damaging	Het
Dnah2	T	C	11: 69,409,104 (GRCm39)	K425E	probably benign	Het
Eya2	A	G	2: 165,529,631 (GRCm39)	S125G	probably benign	Het
Gabrg1	T	G	5: 70,934,599 (GRCm39)	M260L	probably benign	Het
Greb1	T	C	12: 16,732,153 (GRCm39)	S1603G	probably damaging	Het
Isx	A	G	8: 75,600,434 (GRCm39)	T56A	probably benign	Het
Kif2b	A	T	11: 91,467,975 (GRCm39)	S103T	probably benign	Het
Krtap26-1	T	C	16: 88,444,342 (GRCm39)	H93R	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mdm4	G	A	1: 132,924,416 (GRCm39)	T236M	probably damaging	Het
Mgat5	T	A	1: 127,325,348 (GRCm39)	L405Q	probably damaging	Het
Msantd1	A	G	5: 35,080,885 (GRCm39)	I272V	probably benign	Het
Ocstamp	A	G	2: 165,237,768 (GRCm39)	*499Q	probably null	Het
Or11h6	A	G	14: 50,880,493 (GRCm39)	K252E	possibly damaging	Het
Or1e16	G	A	11: 73,279,789 (GRCm39)	P21L	probably benign	Het
Or2n1d	G	A	17: 38,646,414 (GRCm39)	R122Q	probably damaging	Het
Or4c100	A	G	2: 88,356,211 (GRCm39)	M95V	probably benign	Het
Or5b12	A	T	19: 12,897,309 (GRCm39)	Y121*	probably null	Het
Pcdh15	T	A	10: 74,461,756 (GRCm39)		probably benign	Het
Pkdrej	C	T	15: 85,700,834 (GRCm39)	G1701S	probably damaging	Het
Ppp1r9a	A	G	6: 5,113,757 (GRCm39)	T754A	probably damaging	Het
Prss8	C	A	7: 127,527,082 (GRCm39)	Q55H	probably damaging	Het
Psg20	G	T	7: 18,416,670 (GRCm39)	R149S	probably benign	Het
Ptprz1	T	G	6: 23,002,444 (GRCm39)	N1511K	probably benign	Het
Sgk2	A	G	2: 162,854,975 (GRCm39)	D362G	probably benign	Het
Sim1	T	C	10: 50,859,796 (GRCm39)	Y553H	probably damaging	Het
Sipa1l2	T	C	8: 126,208,896 (GRCm39)	D504G	probably damaging	Het
Smad7	T	C	18: 75,502,547 (GRCm39)	V174A	possibly damaging	Het
Smarcc1	T	A	9: 109,996,792 (GRCm39)	N303K	possibly damaging	Het
Snai3	T	C	8: 123,183,038 (GRCm39)	H169R	possibly damaging	Het
Tecpr2	T	A	12: 110,895,505 (GRCm39)	S331T	possibly damaging	Het
Tenm2	G	A	11: 35,959,303 (GRCm39)	T1082I	probably benign	Het
Tle4	A	T	19: 14,429,890 (GRCm39)	I627N	probably damaging	Het
Tnxb	A	T	17: 34,898,088 (GRCm39)	N912I	possibly damaging	Het
Ube2q2l	A	G	6: 136,377,978 (GRCm39)	V284A	probably damaging	Het
Vmn1r238	A	T	18: 3,122,994 (GRCm39)	V140E	probably damaging	Het
Vmn1r65	G	A	7: 6,011,988 (GRCm39)	T82I	probably benign	Het
Vps13b	A	G	15: 35,572,290 (GRCm39)	K969R	probably damaging	Het
Zfp943	A	G	17: 22,209,832 (GRCm39)	R35G	possibly damaging	Het

Other mutations in Rbbp8nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Rbbp8nl	APN	2	179,921,488 (GRCm39)	missense	probably benign	0.01
IGL01845:Rbbp8nl	APN	2	179,925,104 (GRCm39)	missense	probably damaging	0.99
IGL01966:Rbbp8nl	APN	2	179,922,782 (GRCm39)	splice site	probably benign
IGL02217:Rbbp8nl	APN	2	179,919,981 (GRCm39)	unclassified	probably benign
IGL02500:Rbbp8nl	APN	2	179,921,122 (GRCm39)	missense	possibly damaging	0.57
IGL02623:Rbbp8nl	APN	2	179,923,236 (GRCm39)	missense	probably damaging	0.99
IGL02634:Rbbp8nl	APN	2	179,922,688 (GRCm39)	missense	probably benign	0.00
F5770:Rbbp8nl	UTSW	2	179,920,001 (GRCm39)	missense	probably benign	0.03
R0380:Rbbp8nl	UTSW	2	179,923,512 (GRCm39)	missense	probably damaging	0.96
R1773:Rbbp8nl	UTSW	2	179,922,987 (GRCm39)	missense	probably benign	0.00
R1858:Rbbp8nl	UTSW	2	179,924,006 (GRCm39)	splice site	probably benign
R1901:Rbbp8nl	UTSW	2	179,925,106 (GRCm39)	missense	probably damaging	1.00
R1962:Rbbp8nl	UTSW	2	179,922,667 (GRCm39)	missense	probably benign	0.03
R2423:Rbbp8nl	UTSW	2	179,922,764 (GRCm39)	missense	probably damaging	0.98
R2495:Rbbp8nl	UTSW	2	179,920,895 (GRCm39)	missense	probably null	0.31
R3738:Rbbp8nl	UTSW	2	179,923,041 (GRCm39)	missense	probably benign	0.37
R4460:Rbbp8nl	UTSW	2	179,922,764 (GRCm39)	missense	probably benign	0.41
R4502:Rbbp8nl	UTSW	2	179,920,989 (GRCm39)	missense	possibly damaging	0.48
R5573:Rbbp8nl	UTSW	2	179,921,586 (GRCm39)	missense	possibly damaging	0.95
R5699:Rbbp8nl	UTSW	2	179,920,461 (GRCm39)	missense	probably damaging	0.98
R6242:Rbbp8nl	UTSW	2	179,922,767 (GRCm39)	missense	probably damaging	1.00
R6269:Rbbp8nl	UTSW	2	179,923,305 (GRCm39)	nonsense	probably null
R6586:Rbbp8nl	UTSW	2	179,922,752 (GRCm39)	missense	probably damaging	1.00
R6875:Rbbp8nl	UTSW	2	179,921,019 (GRCm39)	missense	probably benign	0.00
R8055:Rbbp8nl	UTSW	2	179,920,001 (GRCm39)	missense	probably benign	0.00
R8344:Rbbp8nl	UTSW	2	179,921,506 (GRCm39)	missense	probably benign	0.18
R8944:Rbbp8nl	UTSW	2	179,919,769 (GRCm39)	nonsense	probably null
R9352:Rbbp8nl	UTSW	2	179,921,053 (GRCm39)	missense	probably benign	0.00
V7581:Rbbp8nl	UTSW	2	179,920,001 (GRCm39)	missense	probably benign	0.03
V7582:Rbbp8nl	UTSW	2	179,920,001 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCTTCAGACTATCGTAGGTGTTC -3'
(R):5'- AGACACATGTAGCCACTCAGG -3'

Sequencing Primer
(F):5'- CAGACTATCGTAGGTGTTCAGTCC -3'
(R):5'- ATGTAGCCACTCAGGACTGC -3'

Posted On

2022-03-25