Mutagenetix > Incidental Mutation

Incidental Mutation 'R2319:Rrbp1'

245576

Institutional Source

Beutler Lab

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 #

R2319 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143789315-143853183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143799479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1076 (N1076S)

Ref Sequence

ENSEMBL: ENSMUSP00000016072 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000016072
AA Change: N1076S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: N1076S

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

noncoding transcript
Transcript: ENSMUST00000132434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155539

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Atp11a	T	A	8: 12,897,505 (GRCm39)	H273Q	probably damaging	Het
Ccdc186	A	G	19: 56,785,999 (GRCm39)	S679P	possibly damaging	Het
Chac2	T	A	11: 30,936,252 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,814,417 (GRCm39)	T532A	unknown	Het
Dsg1c	A	T	18: 20,408,235 (GRCm39)	Y428F	probably damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Gm7489	A	T	15: 53,748,445 (GRCm39)		probably benign	Het
Gnat3	T	G	5: 18,224,624 (GRCm39)	D341E	probably benign	Het
Lrpprc	G	A	17: 85,033,818 (GRCm39)	P1020S	probably benign	Het
Niban3	T	C	8: 72,055,408 (GRCm39)	F273L	probably benign	Het
Nlrp4a	A	G	7: 26,149,319 (GRCm39)	S309G	probably benign	Het
Pik3cg	T	C	12: 32,226,735 (GRCm39)	I1051V	probably damaging	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Rmnd1	A	G	10: 4,372,099 (GRCm39)	V200A	possibly damaging	Het
Rtn4	A	G	11: 29,657,154 (GRCm39)	D436G	probably benign	Het
Spta1	A	G	1: 174,006,222 (GRCm39)		probably null	Het
Srsf3	G	A	17: 29,257,520 (GRCm39)	R88Q	unknown	Het
Stxbp2	T	C	8: 3,683,834 (GRCm39)	I90T	possibly damaging	Het
Tnr	T	A	1: 159,677,618 (GRCm39)	M1K	probably null	Het
Tns3	G	A	11: 8,491,200 (GRCm39)	S119L	probably damaging	Het
Vmn1r2	A	G	4: 3,172,083 (GRCm39)	M1V	probably null	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	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
IGL02513:Rrbp1	APN	2	143,830,350 (GRCm39)	missense	possibly damaging	0.55
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGAGAGGCTCACACACTATG -3'
(R):5'- ACTAGACAGGCTTCTCTGAAAGC -3'

Sequencing Primer
(F):5'- GGCTCACACACTATGAACTCCTGG -3'
(R):5'- AGACAGGCTTCTCTGAAAGCTTCTG -3'

Posted On

2014-10-30