Mutagenetix > Incidental Mutation

Incidental Mutation 'R0380:Rbbp8nl'

30916

Institutional Source

Beutler Lab

Gene Symbol

Rbbp8nl

Ensembl Gene

ENSMUSG00000038980

Gene Name

RBBP8 N-terminal like

Synonyms

BC066135

MMRRC Submission

038586-MU

Accession Numbers

Essential gene?

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

Stock #

R0380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179919439-179931672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 179923512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 108 (M108K)

Ref Sequence

ENSEMBL: ENSMUSP00000047237 (fasta)

Gene Model

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

AlphaFold

A2ABX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038529
AA Change: M108K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: M108K

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

Meta Mutation Damage Score

0.2718

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,538,500 (GRCm39)		probably null	Het
Abca14	A	T	7: 119,877,703 (GRCm39)	I1073L	probably benign	Het
Adamts17	C	T	7: 66,799,792 (GRCm39)	P1116L	probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Ano4	A	G	10: 88,814,675 (GRCm39)	I671T	possibly damaging	Het
Aoc1l1	A	G	6: 48,952,773 (GRCm39)	I233V	probably benign	Het
Ap1g1	A	G	8: 110,529,796 (GRCm39)		probably benign	Het
Arhgap19	A	G	19: 41,761,576 (GRCm39)		probably benign	Het
Arhgap32	C	T	9: 32,157,773 (GRCm39)	R129W	probably damaging	Het
Atp10b	G	T	11: 43,116,424 (GRCm39)	A924S	probably damaging	Het
Ccdc180	T	A	4: 45,930,197 (GRCm39)		probably null	Het
Cckbr	A	G	7: 105,084,198 (GRCm39)	T311A	probably benign	Het
Cr2	C	T	1: 194,839,715 (GRCm39)	G947R	probably damaging	Het
Cyp2g1	T	A	7: 26,513,720 (GRCm39)		probably benign	Het
Dennd1c	G	A	17: 57,380,822 (GRCm39)	A210V	probably damaging	Het
Dscam	A	G	16: 96,857,810 (GRCm39)	Y67H	probably damaging	Het
Dsg2	T	A	18: 20,715,996 (GRCm39)	Y282*	probably null	Het
Epg5	T	C	18: 78,004,056 (GRCm39)	L688P	probably damaging	Het
Esr2	T	G	12: 76,170,065 (GRCm39)	E458A	possibly damaging	Het
Fat1	T	C	8: 45,463,160 (GRCm39)	S1326P	probably damaging	Het
Flt1	A	G	5: 147,525,382 (GRCm39)	S919P	probably damaging	Het
Gpr12	T	A	5: 146,520,146 (GRCm39)	T259S	probably damaging	Het
Grm5	T	A	7: 87,723,584 (GRCm39)	C625S	possibly damaging	Het
H2-Q1	C	T	17: 35,542,054 (GRCm39)	H209Y	probably damaging	Het
Hcfc2	C	A	10: 82,564,272 (GRCm39)		probably benign	Het
Itgal	C	A	7: 126,909,923 (GRCm39)	Y495*	probably null	Het
Kbtbd3	T	A	9: 4,330,545 (GRCm39)	Y306*	probably null	Het
Kcns2	T	C	15: 34,839,318 (GRCm39)	F227S	possibly damaging	Het
Kif1a	T	A	1: 92,983,753 (GRCm39)		probably null	Het
Maml2	C	T	9: 13,532,396 (GRCm39)	R537*	probably null	Het
Muc4	G	A	16: 32,574,333 (GRCm39)	A928T	probably benign	Het
Nav3	A	G	10: 109,594,740 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,122,214 (GRCm39)	M605K	probably damaging	Het
Or2c1	A	T	16: 3,656,849 (GRCm39)	D4V	probably benign	Het
Pcdhb3	T	G	18: 37,435,210 (GRCm39)	I392S	possibly damaging	Het
Prune2	A	G	19: 17,101,371 (GRCm39)	T2292A	probably damaging	Het
Rbm25	A	G	12: 83,707,130 (GRCm39)	T259A	probably benign	Het
Recql	C	A	6: 142,315,156 (GRCm39)	R243L	probably damaging	Het
Rsf1	TGGCG	TGGCGACGGCGGCG	7: 97,229,112 (GRCm39)		probably benign	Het
Serpinb12	T	C	1: 106,878,551 (GRCm39)		probably null	Het
Slc16a14	T	A	1: 84,907,251 (GRCm39)	I8F	possibly damaging	Het
Spef1	G	T	2: 131,014,332 (GRCm39)		probably benign	Het
Tas2r103	A	G	6: 133,013,166 (GRCm39)	L300P	probably damaging	Het
Tas2r117	A	T	6: 132,780,551 (GRCm39)	R230*	probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Thnsl2	A	T	6: 71,118,314 (GRCm39)	L38Q	probably damaging	Het
Tmem171	G	T	13: 98,828,535 (GRCm39)	T205K	possibly damaging	Het
Tmem232	A	T	17: 65,563,443 (GRCm39)	L650Q	probably benign	Het
Tpr	T	A	1: 150,288,698 (GRCm39)	D518E	probably benign	Het
Tsen54	T	C	11: 115,713,423 (GRCm39)	V442A	probably damaging	Het
Tshz3	A	T	7: 36,470,725 (GRCm39)	I905F	probably damaging	Het
Vmn1r66	C	T	7: 10,008,670 (GRCm39)	C121Y	probably benign	Het
Wdfy3	T	C	5: 102,096,832 (GRCm39)	Q322R	probably damaging	Het
Wdr64	T	C	1: 175,597,208 (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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCGATGCAGATGCAATAGCG -3'
(R):5'- ACACTCTGGTTCCCAGTCACATGG -3'

Sequencing Primer
(F):5'- AGATGCAATAGCGCCTGC -3'
(R):5'- AAGACAAGGAGGGCTTTCCTG -3'

Posted On

2013-04-24