Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Rrbp1'

21429

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

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

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

Stock #

R0127 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

143789315-143853183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143831864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 101 (R101H)

Ref Sequence

ENSEMBL: ENSMUSP00000016072 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000016072
AA Change: R101H

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000016072
Gene: ENSMUSG00000027422
AA Change: R101H

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: R101H

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000040560
Gene: ENSMUSG00000027422
AA Change: R101H

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,342 (GRCm39)	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155 (GRCm39)	I1351V	probably benign	Het
Acap1	A	T	11: 69,778,043 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,720,935 (GRCm39)	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,510,384 (GRCm39)	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,556,112 (GRCm39)	N262K	probably damaging	Het
Baz1a	T	A	12: 54,945,491 (GRCm39)	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,945,057 (GRCm39)	D371E	probably benign	Het
Bphl	A	G	13: 34,248,029 (GRCm39)		probably benign	Het
Caskin2	C	A	11: 115,691,820 (GRCm39)	R988S	probably damaging	Het
Cbr1	C	A	16: 93,406,875 (GRCm39)	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,901,999 (GRCm39)	E1213G	possibly damaging	Het
Ccna1	A	G	3: 54,957,169 (GRCm39)	F83L	probably damaging	Het
Cep290	T	A	10: 100,372,787 (GRCm39)		probably benign	Het
Cep89	C	A	7: 35,127,687 (GRCm39)	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,610,738 (GRCm39)	M45V	probably benign	Het
Col16a1	T	A	4: 129,946,650 (GRCm39)	V91E	probably damaging	Het
Csmd3	T	C	15: 47,845,326 (GRCm39)	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,554,190 (GRCm39)		probably benign	Het
Dao	T	A	5: 114,158,024 (GRCm39)	H215Q	probably damaging	Het
Dido1	T	C	2: 180,313,617 (GRCm39)	D885G	probably benign	Het
Dlx4	T	G	11: 95,032,055 (GRCm39)	M240L	probably benign	Het
Dnah5	C	T	15: 28,295,071 (GRCm39)	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,015,717 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,083,491 (GRCm39)	D139E	probably benign	Het
Dynlt5	T	C	4: 102,859,649 (GRCm39)		probably benign	Het
Fam234b	T	C	6: 135,195,821 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,180,112 (GRCm39)	T1410A	probably benign	Het
Fsip2	T	A	2: 82,815,269 (GRCm39)	N3667K	probably benign	Het
Gm5114	T	C	7: 39,057,880 (GRCm39)	I580V	probably benign	Het
Hapln1	A	T	13: 89,755,988 (GRCm39)	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,972,188 (GRCm39)	V694A	probably benign	Het
Hps1	A	G	19: 42,759,550 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,681 (GRCm39)	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,168,242 (GRCm39)	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,836,465 (GRCm39)	M1V	probably null	Het
Krit1	A	G	5: 3,872,178 (GRCm39)	E401G	probably damaging	Het
Lamp1	T	C	8: 13,224,491 (GRCm39)	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,333,567 (GRCm39)	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,937,232 (GRCm39)	I25V	probably benign	Het
Mep1a	A	G	17: 43,808,777 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,376,209 (GRCm39)	W466R	probably benign	Het
Muc2	C	A	7: 141,302,691 (GRCm39)	F11L	probably benign	Het
Nebl	T	A	2: 17,397,794 (GRCm39)	M501L	probably benign	Het
Oga	A	T	19: 45,760,327 (GRCm39)	I277N	probably damaging	Het
Or11g2	A	G	14: 50,855,789 (GRCm39)	I37V	probably benign	Het
Or4p18	A	G	2: 88,232,699 (GRCm39)	V193A	probably benign	Het
Or5w8	A	G	2: 87,687,827 (GRCm39)	I103V	probably benign	Het
Or8g32	A	G	9: 39,305,238 (GRCm39)	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,776,787 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,418,001 (GRCm39)	M2886V	probably damaging	Het
Pop5	T	A	5: 115,378,230 (GRCm39)	L58H	probably damaging	Het
Prkch	C	A	12: 73,768,561 (GRCm39)	H444N	possibly damaging	Het
Reln	T	C	5: 22,209,134 (GRCm39)	D1148G	probably damaging	Het
Rffl	G	A	11: 82,703,458 (GRCm39)	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,977,998 (GRCm39)	S320C	probably damaging	Het
Rtf1	G	A	2: 119,557,224 (GRCm39)	R443H	probably damaging	Het
Serac1	G	T	17: 6,099,115 (GRCm39)	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,061,682 (GRCm39)	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,833,350 (GRCm39)	W456R	probably damaging	Het
Slc28a2b	T	A	2: 122,347,550 (GRCm39)		probably null	Het
Slc35f5	C	T	1: 125,503,942 (GRCm39)	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,435,170 (GRCm39)	R167Q	probably benign	Het
Spag4	T	C	2: 155,909,962 (GRCm39)	V302A	probably damaging	Het
Spire2	A	C	8: 124,084,836 (GRCm39)		probably benign	Het
Sptbn2	G	T	19: 4,774,772 (GRCm39)	V142L	probably damaging	Het
Syt17	T	A	7: 118,009,164 (GRCm39)	D352V	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Thsd7a	A	G	6: 12,554,907 (GRCm39)	S326P	probably benign	Het
Tnpo2	T	C	8: 85,767,257 (GRCm39)	S64P	probably damaging	Het
Tonsl	G	T	15: 76,517,685 (GRCm39)	A678D	probably benign	Het
Trim12c	A	G	7: 103,990,113 (GRCm39)		probably null	Het
Tsc22d1	A	G	14: 76,656,421 (GRCm39)	T885A	possibly damaging	Het
Ttn	T	C	2: 76,572,542 (GRCm39)	D26117G	probably damaging	Het
Ttn	T	A	2: 76,707,355 (GRCm39)		probably benign	Het
Ugt3a1	T	C	15: 9,306,342 (GRCm39)	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,693,160 (GRCm39)	N170S	probably damaging	Het
Vrk2	G	T	11: 26,484,313 (GRCm39)		probably benign	Het
Wt1	C	A	2: 104,963,802 (GRCm39)	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,053,608 (GRCm39)	A368V	probably benign	Het
Zc3h13	A	T	14: 75,560,694 (GRCm39)	D428V	unknown	Het
Zcchc8	C	G	5: 123,845,400 (GRCm39)	G320A	probably damaging	Het
Znfx1	T	C	2: 166,886,130 (GRCm39)	E810G	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGCTTCCAAGATGGCAGAC -3'
(R):5'- GTCAACCTTCTCCATGAAGGAGACG -3'

Sequencing Primer
(F):5'- CCTGGATGGAATTCACAATAGAACTG -3'
(R):5'- CGTATGAAGAAGCCCTTGCC -3'

Posted On

2013-04-11