Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02623:Rbbp8nl'

300948

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 #

IGL02623

Quality Score

Status

Chromosome

Chromosomal Location

179919439-179931672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 179923236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 154 (S154C)

Ref Sequence

ENSEMBL: ENSMUSP00000047237 (fasta)

Gene Model

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

AlphaFold

A2ABX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038529
AA Change: S154C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: S154C

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 90,853,032 (GRCm39)	I35F	probably benign	Het
Acad10	A	G	5: 121,767,993 (GRCm39)	V819A	possibly damaging	Het
Adgrd1	A	T	5: 129,209,809 (GRCm39)	N279Y	probably damaging	Het
Aplp2	C	A	9: 31,089,379 (GRCm39)		probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,360 (GRCm39)	D193G	probably damaging	Het
Cacng1	A	G	11: 107,595,145 (GRCm39)	F144S	probably damaging	Het
Cfap91	T	A	16: 38,154,140 (GRCm39)	D135V	possibly damaging	Het
Dnm3	T	A	1: 162,183,001 (GRCm39)	T105S	probably damaging	Het
Efcab6	T	A	15: 83,763,649 (GRCm39)	I1228F	probably damaging	Het
Erc2	A	G	14: 27,498,937 (GRCm39)	D271G	probably damaging	Het
Fat3	T	C	9: 15,908,433 (GRCm39)	Y2523C	probably damaging	Het
Fhl4	A	G	10: 84,934,035 (GRCm39)	F249L	probably damaging	Het
Gm17782	T	C	17: 36,472,958 (GRCm39)		probably benign	Het
Gm4787	A	G	12: 81,425,502 (GRCm39)	Y219H	probably damaging	Het
Hk1	A	G	10: 62,128,138 (GRCm39)	L328P	probably benign	Het
Hspa12a	T	A	19: 58,797,983 (GRCm39)	Y245F	probably benign	Het
Kbtbd12	T	C	6: 88,595,371 (GRCm39)	Y153C	probably damaging	Het
Kcnd2	A	T	6: 21,726,194 (GRCm39)	R562S	probably benign	Het
Lct	T	C	1: 128,235,988 (GRCm39)	S340G	probably benign	Het
Mettl25	C	A	10: 105,662,185 (GRCm39)	G262W	probably damaging	Het
Mindy3	G	A	2: 12,369,294 (GRCm39)	Q142*	probably null	Het
Optn	T	C	2: 5,039,833 (GRCm39)	E318G	probably damaging	Het
Or8j3	A	T	2: 86,028,363 (GRCm39)	H244Q	probably damaging	Het
Pan2	T	C	10: 128,148,768 (GRCm39)	S443P	probably benign	Het
Parva	A	G	7: 112,175,646 (GRCm39)	D259G	probably damaging	Het
Pkhd1l1	T	A	15: 44,448,269 (GRCm39)	L3816Q	probably damaging	Het
Polq	T	C	16: 36,880,737 (GRCm39)	F967S	probably benign	Het
Prdm16	T	C	4: 154,425,334 (GRCm39)	N817S	probably damaging	Het
Ptprt	C	A	2: 161,449,372 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slit1	T	C	19: 41,640,122 (GRCm39)	I169V	probably damaging	Het
Smyd4	G	T	11: 75,280,890 (GRCm39)		probably benign	Het
Tial1	A	G	7: 128,045,607 (GRCm39)	Y326H	probably benign	Het
Tmem198b	A	G	10: 128,638,320 (GRCm39)	L81P	probably damaging	Het
Tmem94	T	A	11: 115,687,227 (GRCm39)	C1115*	probably null	Het
Tns3	A	G	11: 8,387,141 (GRCm39)	S1349P	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zfp106	A	T	2: 120,376,395 (GRCm39)		probably null	Het
Zfp119b	T	C	17: 56,246,793 (GRCm39)	E99G	probably damaging	Het
Zfp462	T	A	4: 55,012,986 (GRCm39)	C503S	probably damaging	Het
Zfyve19	G	A	2: 119,042,496 (GRCm39)		probably null	Het
Zxdc	G	T	6: 90,359,352 (GRCm39)	K661N	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
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
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

2015-04-16