Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Rrp36'

536402

Institutional Source

Beutler Lab

Gene Symbol

Rrp36

Ensembl Gene

ENSMUSG00000023971

Gene Name

ribosomal RNA processing 36

Synonyms

BC011248

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46977249-46985252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46983297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 106 (Q106K)

Ref Sequence

ENSEMBL: ENSMUSP00000024766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024766] [ENSMUST00000071841] [ENSMUST00000165007]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024766
AA Change: Q106K

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971
AA Change: Q106K

Domain	Start	End	E-Value	Type
Pfam:DUF947	55	219	7.6e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071841

SMART Domains

Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	13	63	1.6e-8	PFAM
Pfam:Kelch_2	13	63	2.2e-9	PFAM
Pfam:Kelch_4	13	65	3.8e-8	PFAM
Pfam:Kelch_6	13	67	9.6e-11	PFAM
Pfam:Kelch_5	73	113	3.1e-8	PFAM
Pfam:Kelch_1	76	117	1.9e-7	PFAM
Pfam:Kelch_6	76	121	1.7e-9	PFAM
Pfam:Kelch_2	77	121	2.1e-8	PFAM
Pfam:Kelch_4	77	125	4.6e-11	PFAM
Pfam:Kelch_3	86	136	1.3e-12	PFAM
Pfam:Kelch_1	127	172	1.5e-10	PFAM
Pfam:Kelch_6	127	173	2e-10	PFAM
Pfam:Kelch_2	127	174	4.7e-14	PFAM
Pfam:Kelch_4	127	177	1.3e-10	PFAM
Pfam:Kelch_2	179	231	2.4e-8	PFAM
Pfam:Kelch_1	180	233	5.8e-9	PFAM
Pfam:Kelch_3	189	247	7.3e-8	PFAM
Pfam:Kelch_5	235	276	1.2e-11	PFAM
Pfam:Kelch_1	238	284	2.7e-8	PFAM
Pfam:Kelch_6	238	293	2.4e-12	PFAM
Pfam:Kelch_3	248	299	4.2e-10	PFAM
low complexity region	322	333	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165007

SMART Domains

Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	13	63	9.9e-10	PFAM
Pfam:Kelch_2	13	63	2.2e-9	PFAM
Pfam:Kelch_6	13	66	7.5e-11	PFAM
Pfam:Kelch_4	13	71	1.4e-8	PFAM
Pfam:Kelch_5	73	113	3e-8	PFAM
Pfam:Kelch_1	76	118	2.6e-8	PFAM
Pfam:Kelch_6	76	121	1.1e-10	PFAM
Pfam:Kelch_4	76	126	2e-11	PFAM
Pfam:Kelch_2	77	121	2.1e-8	PFAM
Pfam:Kelch_3	86	136	7.7e-12	PFAM
Pfam:Kelch_1	127	170	1.2e-8	PFAM
Pfam:Kelch_2	127	174	4.7e-14	PFAM
Pfam:Kelch_4	127	177	1.7e-7	PFAM
Pfam:Kelch_2	179	231	2.4e-8	PFAM
Pfam:Kelch_6	179	239	2.5e-9	PFAM
Pfam:Kelch_1	180	232	3.4e-8	PFAM
Pfam:Kelch_3	189	247	5.7e-8	PFAM
Pfam:Kelch_5	235	276	4.3e-10	PFAM
Pfam:Kelch_1	238	285	9.3e-10	PFAM
Pfam:Kelch_4	238	291	9.9e-8	PFAM
Pfam:Kelch_6	238	293	2.5e-12	PFAM
Pfam:Kelch_3	248	299	1.1e-9	PFAM
low complexity region	322	333	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,154 (GRCm39)	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,751,628 (GRCm39)	I336T	probably benign	Het
Adam19	T	A	11: 46,003,702 (GRCm39)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,745,155 (GRCm39)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,815,677 (GRCm39)	S415P	probably benign	Het
Atp10a	T	C	7: 58,447,100 (GRCm39)	L614P	probably benign	Het
Catsper1	G	T	19: 5,393,991 (GRCm39)	V668F	probably damaging	Het
Cluh	T	A	11: 74,552,744 (GRCm39)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,444,175 (GRCm39)	S407P	probably benign	Het
Commd6	T	C	14: 101,871,786 (GRCm39)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,762,001 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,969,760 (GRCm39)	D252G	probably damaging	Het
Epha2	A	T	4: 141,055,779 (GRCm39)	S962C	probably damaging	Het
Fcho1	C	A	8: 72,167,069 (GRCm39)		probably null	Het
Fgf23	G	T	6: 127,050,179 (GRCm39)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,748 (GRCm39)	Y834F	probably damaging	Het
Gcn1	T	C	5: 115,726,169 (GRCm39)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,093,102 (GRCm39)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,976,291 (GRCm39)	M166K	probably benign	Het
Ikbkb	T	C	8: 23,155,909 (GRCm39)	D586G	probably damaging	Het
Il36g	G	C	2: 24,078,633 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,762,108 (GRCm39)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,422,377 (GRCm39)	A896T	probably benign	Het
Kif28	A	G	1: 179,563,559 (GRCm39)	I139T	probably damaging	Het
Klhl25	A	G	7: 75,516,090 (GRCm39)	E332G	probably damaging	Het
Krt8	C	T	15: 101,906,343 (GRCm39)	A389T	probably benign	Het
Msrb3	T	C	10: 120,620,011 (GRCm39)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo10	T	C	15: 25,805,745 (GRCm39)	Y1709H	probably benign	Het
Nckap5	A	G	1: 125,950,931 (GRCm39)	S1519P	probably benign	Het
Npnt	T	A	3: 132,615,671 (GRCm39)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,661,662 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,290,477 (GRCm39)	Y365C	probably benign	Het
Or4f56	A	T	2: 111,703,306 (GRCm39)	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,671,647 (GRCm39)	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,362,264 (GRCm39)	S373P	probably damaging	Het
Qrfprl	A	T	6: 65,433,320 (GRCm39)	N380I	probably benign	Het
Rab28	T	C	5: 41,860,877 (GRCm39)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 179,921,019 (GRCm39)	I455T	probably benign	Het
Rnft2	G	A	5: 118,366,883 (GRCm39)	A285V	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,315,710 (GRCm39)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,004,624 (GRCm39)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,886,192 (GRCm39)	W147*	probably null	Het
Smchd1	T	C	17: 71,660,501 (GRCm39)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,633,822 (GRCm39)	S203G	probably damaging	Het
Srl	T	C	16: 4,300,695 (GRCm39)	K792R	probably benign	Het
Srrt	A	G	5: 137,296,935 (GRCm39)	F100S	probably benign	Het
Stard9	G	T	2: 120,527,917 (GRCm39)	M1391I	probably benign	Het
Syne2	A	G	12: 76,082,404 (GRCm39)	E119G	probably damaging	Het
Syt11	G	T	3: 88,669,462 (GRCm39)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,439,063 (GRCm39)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,168,038 (GRCm39)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,390,288 (GRCm39)	Y386F	probably benign	Het
Usp31	C	T	7: 121,248,863 (GRCm39)	W860*	probably null	Het
Zfp317	A	G	9: 19,554,961 (GRCm39)	R30G	probably damaging	Het
Zfp709	C	A	8: 72,642,851 (GRCm39)	N93K	possibly damaging	Het

Other mutations in Rrp36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Rrp36	APN	17	46,979,017 (GRCm39)	unclassified	probably benign
R1085:Rrp36	UTSW	17	46,978,878 (GRCm39)	makesense	probably null
R1328:Rrp36	UTSW	17	46,983,705 (GRCm39)	nonsense	probably null
R1470:Rrp36	UTSW	17	46,983,306 (GRCm39)	nonsense	probably null
R1470:Rrp36	UTSW	17	46,983,306 (GRCm39)	nonsense	probably null
R1672:Rrp36	UTSW	17	46,983,340 (GRCm39)	missense	probably damaging	0.99
R1920:Rrp36	UTSW	17	46,983,671 (GRCm39)	missense	possibly damaging	0.78
R1922:Rrp36	UTSW	17	46,983,671 (GRCm39)	missense	possibly damaging	0.78
R2215:Rrp36	UTSW	17	46,983,746 (GRCm39)	missense	possibly damaging	0.92
R3930:Rrp36	UTSW	17	46,983,732 (GRCm39)	missense	probably damaging	0.98
R4280:Rrp36	UTSW	17	46,983,302 (GRCm39)	missense	probably damaging	1.00
R4747:Rrp36	UTSW	17	46,980,893 (GRCm39)	missense	possibly damaging	0.87
R5809:Rrp36	UTSW	17	46,978,932 (GRCm39)	missense	probably damaging	1.00
R8818:Rrp36	UTSW	17	46,983,336 (GRCm39)	missense	probably damaging	1.00
R9180:Rrp36	UTSW	17	46,978,980 (GRCm39)	missense	possibly damaging	0.94
R9275:Rrp36	UTSW	17	46,983,306 (GRCm39)	nonsense	probably null
R9542:Rrp36	UTSW	17	46,983,492 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- CCCACAGGCGTTAGTAATGAC -3'
(R):5'- TTCTTACGTCAGGTGGTGCC -3'

Sequencing Primer
(F):5'- CACAGGCGTTAGTAATGACTACTATC -3'
(R):5'- TGGTGCCCATCAGTAAAAAGGTG -3'

Posted On

2018-10-18