Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01845:Rbbp8nl'

178170

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbbp8nl

Ensembl Gene

ENSMUSG00000038980

Gene Name

RBBP8 N-terminal like

Synonyms

BC066135

Accession Numbers

Essential gene?

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

Stock #

IGL01845

Quality Score

Status

Chromosome

Chromosomal Location

179919439-179931672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 179925104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 34 (C34R)

Ref Sequence

ENSEMBL: ENSMUSP00000047237 (fasta)

Gene Model

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

AlphaFold

A2ABX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038529
AA Change: C34R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: C34R

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	C	17: 15,164,380 (GRCm39)	L169P	probably damaging	Het
4933405L10Rik	C	A	8: 106,435,567 (GRCm39)	A75E	probably benign	Het
Abca1	A	G	4: 53,090,297 (GRCm39)	L384P	probably damaging	Het
Acox2	C	A	14: 8,251,617 (GRCm38)	M293I	probably damaging	Het
Acp6	A	G	3: 97,081,123 (GRCm39)	S288G	probably benign	Het
Arhgef12	T	A	9: 42,934,137 (GRCm39)	H127L	possibly damaging	Het
Arid2	T	G	15: 96,254,678 (GRCm39)	F175V	probably damaging	Het
Ccdc15	G	A	9: 37,226,532 (GRCm39)	Q468*	probably null	Het
Ccdc93	T	C	1: 121,390,859 (GRCm39)	I277T	probably damaging	Het
Cdh8	T	C	8: 99,825,586 (GRCm39)		probably benign	Het
Cdipt	T	C	7: 126,578,725 (GRCm39)	S145P	possibly damaging	Het
Cfap206	T	C	4: 34,719,610 (GRCm39)	N268S	possibly damaging	Het
Clcn3	A	T	8: 61,366,129 (GRCm39)	N814K	probably benign	Het
Col6a3	T	C	1: 90,724,293 (GRCm39)	D2019G	probably damaging	Het
Corin	C	A	5: 72,511,282 (GRCm39)	G432C	probably damaging	Het
Crppa	A	G	12: 36,597,918 (GRCm39)	R350G	probably benign	Het
Cyld	C	T	8: 89,432,403 (GRCm39)	Q134*	probably null	Het
Dhh	C	A	15: 98,795,864 (GRCm39)	R97L	probably damaging	Het
Dnah5	T	C	15: 28,449,315 (GRCm39)	V4239A	probably benign	Het
Dock2	T	C	11: 34,599,692 (GRCm39)	I296V	probably benign	Het
Gabbr1	T	C	17: 37,359,306 (GRCm39)		probably benign	Het
Gbp10	T	C	5: 105,367,815 (GRCm39)		probably null	Het
Itgam	T	A	7: 127,711,644 (GRCm39)	L753Q	probably damaging	Het
Kbtbd12	A	G	6: 88,590,922 (GRCm39)	V430A	probably benign	Het
Kdm4a	A	G	4: 118,017,656 (GRCm39)	V470A	possibly damaging	Het
Larp1b	A	T	3: 40,924,960 (GRCm39)	T146S	probably benign	Het
Lrrfip2	T	A	9: 111,028,728 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,418 (GRCm39)	C137S	possibly damaging	Het
Morc3	A	G	16: 93,657,455 (GRCm39)	Y393C	probably damaging	Het
Ms4a7	A	T	19: 11,299,751 (GRCm39)	M217K	possibly damaging	Het
Msl1	A	G	11: 98,696,191 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,083,860 (GRCm39)	E1546G	probably benign	Het
Nlgn2	A	G	11: 69,716,675 (GRCm39)	L622P	possibly damaging	Het
Oga	T	A	19: 45,756,301 (GRCm39)	E447D	probably benign	Het
Or10q3	A	G	19: 11,847,888 (GRCm39)	S231P	probably benign	Het
Or1e33	A	G	11: 73,738,298 (GRCm39)	Y218H	probably damaging	Het
Or1j11	A	C	2: 36,312,105 (GRCm39)	K232Q	probably benign	Het
Or56b1b	T	A	7: 108,164,343 (GRCm39)	I220L	possibly damaging	Het
Or5k17	T	C	16: 58,746,929 (GRCm39)	M2V	probably benign	Het
Phf20	C	A	2: 156,118,577 (GRCm39)	S427*	probably null	Het
Pirt	G	A	11: 66,816,794 (GRCm39)	S35N	probably damaging	Het
Prss28	C	A	17: 25,529,011 (GRCm39)	N117K	possibly damaging	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Sema5a	T	C	15: 32,474,514 (GRCm39)		probably benign	Het
Sh3bp2	T	A	5: 34,713,347 (GRCm39)	L196Q	probably damaging	Het
Slc26a9	G	T	1: 131,685,256 (GRCm39)	D325Y	probably damaging	Het
Slc4a1	A	G	11: 102,244,729 (GRCm39)	V622A	probably benign	Het
Thbd	A	G	2: 148,249,016 (GRCm39)	V284A	probably benign	Het
Tmc5	T	C	7: 118,251,733 (GRCm39)	F609L	possibly damaging	Het
Tnr	T	C	1: 159,695,576 (GRCm39)		probably benign	Het
Ttc17	A	T	2: 94,163,177 (GRCm39)	Y881*	probably null	Het
Ttc41	A	T	10: 86,612,488 (GRCm39)	T1254S	probably benign	Het
Ttn	C	T	2: 76,640,347 (GRCm39)	D13754N	probably damaging	Het
Vmn2r16	T	A	5: 109,511,762 (GRCm39)	F656L	probably damaging	Het
Wdr19	A	G	5: 65,382,709 (GRCm39)	I478V	probably damaging	Het
Zan	T	C	5: 137,379,116 (GRCm39)		probably benign	Het
Zp2	T	A	7: 119,737,414 (GRCm39)	D258V	probably 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
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
R9279:Rbbp8nl	UTSW	2	179,920,894 (GRCm39)	critical splice donor site	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

Posted On

2014-05-07