Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02513:Rrbp1'

296627

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrbp1

Ensembl Gene

ENSMUSG00000027422

Gene Name

ribosome binding protein 1

Synonyms

mRRp1.8, mRRp0, mRRp5.4, mRRp47, 1700087N07Rik, mRRp10, mRRp16.8, ES/130, p180, mRRp41, mRRp2, mRRp15b, 5730465C04Rik, mRRp15a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL02513

Quality Score

Status

Chromosome

Chromosomal Location

143789315-143853183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143830350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 606 (A606T)

Ref Sequence

ENSEMBL: ENSMUSP00000016072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016072] [ENSMUST00000037875]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016072
AA Change: A606T

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: A606T

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Rib_recp_KP_reg	33	171	2.3e-40	PFAM
low complexity region	197	215	N/A	INTRINSIC
internal_repeat_2	218	373	2.94e-114	PROSPERO
internal_repeat_1	219	406	7.79e-148	PROSPERO
internal_repeat_1	410	618	7.79e-148	PROSPERO
internal_repeat_2	449	692	2.94e-114	PROSPERO
coiled coil region	757	1126	N/A	INTRINSIC
coiled coil region	1167	1321	N/A	INTRINSIC
coiled coil region	1342	1455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037875
AA Change: A606T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: A606T

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:Rib_recp_KP_reg	33	173	2.8e-47	PFAM
low complexity region	197	215	N/A	INTRINSIC
Blast:KISc	470	652	3e-13	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	G	T	12: 8,042,979 (GRCm39)	V787F	probably benign	Het
Atg14	T	C	14: 47,786,451 (GRCm39)	I268V	probably benign	Het
Atg14	T	A	14: 47,783,081 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,408,562 (GRCm39)		probably benign	Het
Ccdc9	A	G	7: 16,018,434 (GRCm39)		probably benign	Het
Cers6	T	C	2: 68,899,013 (GRCm39)	F217S	probably benign	Het
Crebbp	A	C	16: 3,944,469 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,049,869 (GRCm39)		probably benign	Het
Dmac2l	A	T	12: 69,787,819 (GRCm39)	Y85F	probably benign	Het
Eml1	T	A	12: 108,496,571 (GRCm39)	V609E	probably damaging	Het
Fryl	A	G	5: 73,222,636 (GRCm39)	S204P	probably damaging	Het
Gpr152	A	G	19: 4,192,843 (GRCm39)	D128G	probably damaging	Het
Itgal	T	A	7: 126,927,844 (GRCm39)	V1013D	possibly damaging	Het
Kctd18	A	G	1: 58,004,559 (GRCm39)	Y112H	probably damaging	Het
Kdm4d	T	A	9: 14,375,850 (GRCm39)	T3S	probably benign	Het
Lrp1b	C	T	2: 41,000,765 (GRCm39)		probably null	Het
Mex3c	T	A	18: 73,723,360 (GRCm39)	D484E	possibly damaging	Het
Nalf1	T	A	8: 9,257,930 (GRCm39)	D406V	probably benign	Het
Nat14	T	C	7: 4,927,050 (GRCm39)	V74A	possibly damaging	Het
Or2b6	A	G	13: 21,823,510 (GRCm39)	F61S	probably damaging	Het
Pabpc2	C	T	18: 39,908,193 (GRCm39)	T486I	probably benign	Het
Pgm2	A	G	5: 64,260,289 (GRCm39)		probably benign	Het
Pkn3	T	A	2: 29,973,149 (GRCm39)	I353N	probably damaging	Het
Rbm44	T	A	1: 91,083,260 (GRCm39)	S594R	possibly damaging	Het
Tcof1	A	G	18: 60,964,850 (GRCm39)	V623A	possibly damaging	Het
Tg	A	G	15: 66,577,123 (GRCm39)	E1482G	probably benign	Het
Uba1	A	G	X: 20,541,885 (GRCm39)	T546A	probably benign	Het
Vmn2r37	T	C	7: 9,220,934 (GRCm39)	K310E	probably benign	Het
Zbtb38	A	T	9: 96,569,126 (GRCm39)	W653R	probably damaging	Het
Zdhhc19	A	T	16: 32,318,440 (GRCm39)	I99F	probably damaging	Het
Zfp236	T	C	18: 82,648,239 (GRCm39)	Y974C	probably damaging	Het

Other mutations in Rrbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Rrbp1	APN	2	143,810,538 (GRCm39)	missense	possibly damaging	0.93
IGL01636:Rrbp1	APN	2	143,789,815 (GRCm39)	unclassified	probably benign
IGL01923:Rrbp1	APN	2	143,832,081 (GRCm39)	missense	probably damaging	1.00
IGL02548:Rrbp1	APN	2	143,791,679 (GRCm39)	splice site	probably benign
IGL02678:Rrbp1	APN	2	143,832,107 (GRCm39)	missense	probably damaging	0.98
FR4449:Rrbp1	UTSW	2	143,809,376 (GRCm39)	frame shift	probably null
PIT4378001:Rrbp1	UTSW	2	143,816,460 (GRCm39)	missense	probably benign	0.00
R0127:Rrbp1	UTSW	2	143,831,864 (GRCm39)	missense	probably benign	0.21
R0611:Rrbp1	UTSW	2	143,830,436 (GRCm39)	missense	probably damaging	1.00
R0881:Rrbp1	UTSW	2	143,795,173 (GRCm39)	missense	probably benign	0.09
R1439:Rrbp1	UTSW	2	143,797,032 (GRCm39)	critical splice donor site	probably null
R1534:Rrbp1	UTSW	2	143,830,233 (GRCm39)	missense	probably damaging	1.00
R1604:Rrbp1	UTSW	2	143,831,310 (GRCm39)	missense	probably damaging	0.99
R1920:Rrbp1	UTSW	2	143,830,211 (GRCm39)	missense	probably benign	0.16
R1921:Rrbp1	UTSW	2	143,830,211 (GRCm39)	missense	probably benign	0.16
R2152:Rrbp1	UTSW	2	143,796,118 (GRCm39)	missense	possibly damaging	0.75
R2153:Rrbp1	UTSW	2	143,796,118 (GRCm39)	missense	possibly damaging	0.75
R2319:Rrbp1	UTSW	2	143,799,479 (GRCm39)	missense	probably benign	0.01
R2850:Rrbp1	UTSW	2	143,791,269 (GRCm39)	missense	probably benign	0.09
R2864:Rrbp1	UTSW	2	143,799,557 (GRCm39)	missense	probably damaging	0.99
R3433:Rrbp1	UTSW	2	143,794,200 (GRCm39)	splice site	probably benign
R3707:Rrbp1	UTSW	2	143,795,197 (GRCm39)	missense	probably benign	0.01
R3837:Rrbp1	UTSW	2	143,831,478 (GRCm39)	missense	probably damaging	1.00
R4073:Rrbp1	UTSW	2	143,805,030 (GRCm39)	missense	probably benign	0.16
R4074:Rrbp1	UTSW	2	143,805,030 (GRCm39)	missense	probably benign	0.16
R4076:Rrbp1	UTSW	2	143,805,030 (GRCm39)	missense	probably benign	0.16
R4279:Rrbp1	UTSW	2	143,805,028 (GRCm39)	missense	probably benign	0.16
R4583:Rrbp1	UTSW	2	143,830,671 (GRCm39)	missense	probably benign	0.03
R4820:Rrbp1	UTSW	2	143,806,685 (GRCm39)	missense	possibly damaging	0.78
R4829:Rrbp1	UTSW	2	143,831,607 (GRCm39)	missense	probably benign	0.18
R4836:Rrbp1	UTSW	2	143,830,337 (GRCm39)	missense	possibly damaging	0.75
R5589:Rrbp1	UTSW	2	143,831,886 (GRCm39)	missense	probably benign	0.16
R5801:Rrbp1	UTSW	2	143,831,703 (GRCm39)	missense	probably damaging	1.00
R5806:Rrbp1	UTSW	2	143,805,251 (GRCm39)	missense	probably benign	0.16
R5955:Rrbp1	UTSW	2	143,791,597 (GRCm39)	missense	probably benign	0.06
R6102:Rrbp1	UTSW	2	143,830,313 (GRCm39)	missense	probably damaging	1.00
R6368:Rrbp1	UTSW	2	143,831,475 (GRCm39)	missense	probably damaging	1.00
R6916:Rrbp1	UTSW	2	143,816,518 (GRCm39)	missense	probably benign	0.03
R7022:Rrbp1	UTSW	2	143,799,722 (GRCm39)	splice site	probably null
R7061:Rrbp1	UTSW	2	143,831,087 (GRCm39)	missense	possibly damaging	0.61
R7136:Rrbp1	UTSW	2	143,791,600 (GRCm39)	missense	probably benign	0.16
R7291:Rrbp1	UTSW	2	143,811,382 (GRCm39)	missense	probably benign	0.09
R7361:Rrbp1	UTSW	2	143,809,364 (GRCm39)	missense	probably benign	0.01
R7816:Rrbp1	UTSW	2	143,830,855 (GRCm39)	missense	probably damaging	1.00
R7877:Rrbp1	UTSW	2	143,789,815 (GRCm39)	unclassified	probably benign
R7968:Rrbp1	UTSW	2	143,832,081 (GRCm39)	missense	probably damaging	1.00
R8022:Rrbp1	UTSW	2	143,798,712 (GRCm39)	missense	probably benign	0.42
R8306:Rrbp1	UTSW	2	143,792,416 (GRCm39)	missense	probably benign	0.02
R8439:Rrbp1	UTSW	2	143,797,053 (GRCm39)	missense	probably benign	0.23
R8469:Rrbp1	UTSW	2	143,831,661 (GRCm39)	missense	probably damaging	0.98
R8485:Rrbp1	UTSW	2	143,796,933 (GRCm39)	missense	probably benign	0.09
R8526:Rrbp1	UTSW	2	143,816,403 (GRCm39)	missense	probably benign	0.33
R8534:Rrbp1	UTSW	2	143,830,095 (GRCm39)	missense	probably damaging	1.00
R8556:Rrbp1	UTSW	2	143,831,045 (GRCm39)	missense	possibly damaging	0.84
R8735:Rrbp1	UTSW	2	143,830,920 (GRCm39)	nonsense	probably null
R9258:Rrbp1	UTSW	2	143,853,161 (GRCm39)	start gained	probably benign
R9326:Rrbp1	UTSW	2	143,806,744 (GRCm39)	missense	probably damaging	0.99
R9419:Rrbp1	UTSW	2	143,811,436 (GRCm39)	missense	probably benign	0.09
R9585:Rrbp1	UTSW	2	143,799,479 (GRCm39)	missense	probably benign	0.01
R9660:Rrbp1	UTSW	2	143,831,178 (GRCm39)	missense	probably damaging	1.00
R9694:Rrbp1	UTSW	2	143,832,099 (GRCm39)	missense	probably damaging	1.00
Z1088:Rrbp1	UTSW	2	143,816,406 (GRCm39)	missense	probably damaging	1.00
Z1177:Rrbp1	UTSW	2	143,811,415 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16