Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02634:Rbbp8nl'

301443

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 #

IGL02634

Quality Score

Status

Chromosome

Chromosomal Location

179919439-179931672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179922688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 235 (D235G)

Ref Sequence

ENSEMBL: ENSMUSP00000047237 (fasta)

Gene Model

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

AlphaFold

A2ABX0

Predicted Effect

probably benign
Transcript: ENSMUST00000038529
AA Change: D235G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: D235G

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,683,548 (GRCm39)	C943*	probably null	Het
Arhgef28	A	T	13: 98,187,566 (GRCm39)	V243D	probably benign	Het
Arrdc3	T	A	13: 81,038,884 (GRCm39)	I62K	probably damaging	Het
Atm	T	C	9: 53,427,863 (GRCm39)	T416A	probably benign	Het
AW209491	A	G	13: 14,812,268 (GRCm39)	T374A	probably damaging	Het
Brcc3	T	C	X: 74,479,704 (GRCm39)		probably benign	Het
Ccdc181	T	G	1: 164,107,514 (GRCm39)	S66A	probably benign	Het
Ccdc62	T	C	5: 124,092,320 (GRCm39)	I435T	probably benign	Het
Cdc14b	C	A	13: 64,364,117 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,477 (GRCm39)	S48P	probably damaging	Het
Ciita	C	A	16: 10,326,577 (GRCm39)	S253Y	probably damaging	Het
Dock7	C	T	4: 98,877,533 (GRCm39)	R1005H	probably damaging	Het
Dsg4	A	T	18: 20,591,637 (GRCm39)	I459F	probably benign	Het
Enpep	T	C	3: 129,103,506 (GRCm39)	E361G	probably damaging	Het
Fblim1	T	C	4: 141,310,422 (GRCm39)	D280G	probably benign	Het
Fignl1	G	A	11: 11,752,756 (GRCm39)	R100*	probably null	Het
Ggcx	G	T	6: 72,395,286 (GRCm39)	A126S	probably damaging	Het
Hdgfl1	A	G	13: 26,953,786 (GRCm39)	S96P	probably benign	Het
Iqgap2	G	A	13: 95,764,622 (GRCm39)	L1541F	probably damaging	Het
Itga8	T	C	2: 12,145,289 (GRCm39)	E888G	possibly damaging	Het
Kank4	T	A	4: 98,667,064 (GRCm39)	Q461L	probably benign	Het
Klhl20	C	T	1: 160,925,935 (GRCm39)	V438M	probably damaging	Het
Klrc3	A	T	6: 129,620,171 (GRCm39)	S27R	probably damaging	Het
Ksr2	T	C	5: 117,901,394 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,389,938 (GRCm39)	S1829N	probably benign	Het
Obscn	A	G	11: 58,945,611 (GRCm39)	L4585P	probably damaging	Het
Or5p57	T	C	7: 107,665,978 (GRCm39)	N9S	probably benign	Het
Palm3	T	G	8: 84,755,494 (GRCm39)	S335R	probably damaging	Het
Pcsk7	C	T	9: 45,830,560 (GRCm39)	A446V	possibly damaging	Het
Penk	A	G	4: 4,134,065 (GRCm39)	L194P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,403,063 (GRCm39)	F2255S	probably damaging	Het
Plcd3	G	A	11: 102,968,653 (GRCm39)	S31F	probably damaging	Het
Pou2af2	A	G	9: 51,203,055 (GRCm39)	L33P	possibly damaging	Het
Ppp6r2	C	T	15: 89,159,680 (GRCm39)	Q456*	probably null	Het
Ror1	T	A	4: 100,283,307 (GRCm39)	N457K	probably benign	Het
Rpgrip1l	C	A	8: 91,951,972 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 141,595,787 (GRCm39)	F148L	probably benign	Het
Slc45a2	A	T	15: 11,023,440 (GRCm39)	H348L	probably benign	Het
Smg8	C	T	11: 86,977,498 (GRCm39)	A28T	probably benign	Het
Snx14	A	G	9: 88,285,356 (GRCm39)	I436T	probably damaging	Het
Synj2	G	A	17: 6,080,035 (GRCm39)	R1088H	probably damaging	Het
Tubb6	T	C	18: 67,535,366 (GRCm39)	Y422H	probably damaging	Het
Unc13a	T	A	8: 72,108,345 (GRCm39)	I503F	probably benign	Het
Unc13d	A	G	11: 115,961,382 (GRCm39)		probably benign	Het
Zp1	T	C	19: 10,896,871 (GRCm39)		probably benign	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
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