Mutagenetix > Incidental Mutation

Incidental Mutation 'R9542:Rrp8'

719933

Institutional Source

Beutler Lab

Gene Symbol

Rrp8

Ensembl Gene

ENSMUSG00000030888

Gene Name

ribosomal RNA processing 8

Synonyms

1500003O22Rik, 2900001K19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R9542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105380937-105386592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105382606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 449 (T449A)

Ref Sequence

ENSEMBL: ENSMUSP00000095752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033179] [ENSMUST00000033182] [ENSMUST00000098148] [ENSMUST00000136687] [ENSMUST00000149695] [ENSMUST00000163389]

AlphaFold

Q9DB85

Predicted Effect

probably benign
Transcript: ENSMUST00000033179
AA Change: T403A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888
AA Change: T403A

Domain	Start	End	E-Value	Type
low complexity region	186	202	N/A	INTRINSIC
Pfam:Methyltransf_8	238	457	2.4e-107	PFAM
Pfam:Methyltransf_11	314	391	2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033182

SMART Domains

Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART
Pfam:Pkinase	193	445	1.5e-25	PFAM
Pfam:Pkinase_Tyr	193	446	7.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098148
AA Change: T449A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888
AA Change: T449A

Domain	Start	End	E-Value	Type
low complexity region	232	248	N/A	INTRINSIC
Pfam:Methyltransf_8	284	503	7.5e-107	PFAM
Pfam:Methyltransf_11	348	437	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127738

Predicted Effect

probably benign
Transcript: ENSMUST00000136687

SMART Domains

Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149695

Predicted Effect

probably benign
Transcript: ENSMUST00000163389

SMART Domains

Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890

Domain	Start	End	E-Value	Type
ANK	33	62	4.71e-6	SMART
ANK	66	95	1.04e-7	SMART
ANK	99	128	1.02e-1	SMART
Pfam:Pkinase_Tyr	193	446	4e-39	PFAM
Pfam:Pkinase	195	445	3e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	T	C	1: 155,443,356 (GRCm39)	S105P	probably benign	Het
Acot12	G	A	13: 91,931,110 (GRCm39)	V453M	probably damaging	Het
Actr2	C	T	11: 20,044,350 (GRCm39)	M85I	probably benign	Het
Anxa9	T	C	3: 95,210,379 (GRCm39)	D62G	probably benign	Het
Arnt	C	T	3: 95,397,954 (GRCm39)	A599V	probably benign	Het
Ash1l	A	G	3: 88,950,566 (GRCm39)	E2153G	probably damaging	Het
Asic5	A	T	3: 81,911,850 (GRCm39)	T149S	probably benign	Het
Atcay	G	A	10: 81,043,686 (GRCm39)	T353I	unknown	Het
Aven	T	C	2: 112,455,517 (GRCm39)	F143L	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
BC024139	T	A	15: 76,009,715 (GRCm39)	L149F	probably damaging	Het
C3	T	C	17: 57,532,037 (GRCm39)	Y228C	probably damaging	Het
Cacna1d	A	G	14: 29,845,316 (GRCm39)	F640L	probably benign	Het
Ccdc187	T	C	2: 26,145,930 (GRCm39)	R1220G	possibly damaging	Het
Cdc42bpb	G	A	12: 111,268,508 (GRCm39)	Q1231*	probably null	Het
Cdh20	T	A	1: 104,875,067 (GRCm39)	V283E	probably damaging	Het
Cep63	T	C	9: 102,484,533 (GRCm39)	I241V	probably benign	Het
Dis3	A	G	14: 99,316,975 (GRCm39)	V787A	probably damaging	Het
Dock9	A	G	14: 121,864,775 (GRCm39)	F727S	probably damaging	Het
Eif5b	G	T	1: 38,057,131 (GRCm39)	E63*	probably null	Het
Fanca	A	G	8: 124,023,078 (GRCm39)	V553A	probably damaging	Het
Flacc1	C	T	1: 58,717,504 (GRCm39)	A136T	probably benign	Het
Gm37240	A	C	3: 84,417,196 (GRCm39)	H174Q	probably benign	Het
Kcnc4	C	T	3: 107,365,571 (GRCm39)	W212*	probably null	Het
Myh2	G	A	11: 67,072,002 (GRCm39)	E577K	possibly damaging	Het
Ncoa1	C	T	12: 4,325,178 (GRCm39)	V967I	possibly damaging	Het
Nmur2	T	C	11: 55,931,649 (GRCm39)	T21A	probably damaging	Het
Nrde2	A	G	12: 100,110,426 (GRCm39)	C197R	probably damaging	Het
Or2m12	A	T	16: 19,104,943 (GRCm39)	D183E	probably benign	Het
Or2o1	C	A	11: 49,051,073 (GRCm39)	C77*	probably null	Het
Or52ad1	T	C	7: 102,995,569 (GRCm39)	I189V	probably benign	Het
Or8h7	G	T	2: 86,720,813 (GRCm39)	H235Q	probably benign	Het
Pard3b	C	T	1: 62,250,786 (GRCm39)	R572*	probably null	Het
Pdcd6ip	T	C	9: 113,520,589 (GRCm39)	S132G	probably damaging	Het
Pdzrn3	A	T	6: 101,149,235 (GRCm39)	F364L	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pgr	G	T	9: 8,901,532 (GRCm39)	C355F	possibly damaging	Het
Pkhd1	T	G	1: 20,188,004 (GRCm39)	S3435R	probably damaging	Het
Pkhd1l1	A	G	15: 44,410,284 (GRCm39)	D2597G	probably benign	Het
Pramel30	T	C	4: 144,057,095 (GRCm39)	Y93H	possibly damaging	Het
Prrc2c	T	C	1: 162,508,359 (GRCm39)	E2410G	possibly damaging	Het
Rpap2	C	G	5: 107,768,180 (GRCm39)	S339R	probably benign	Het
Rrp36	G	C	17: 46,983,492 (GRCm39)	R69G	possibly damaging	Het
Scn3a	T	C	2: 65,366,860 (GRCm39)	D54G	probably damaging	Het
Serinc2	C	T	4: 130,152,516 (GRCm39)	W228*	probably null	Het
Serpinb9g	A	G	13: 33,679,141 (GRCm39)	K337R	probably benign	Het
Slc28a2b	A	T	2: 122,324,822 (GRCm39)	K131N	probably benign	Het
Spata31	A	T	13: 65,070,077 (GRCm39)	I742F	probably damaging	Het
Speg	C	T	1: 75,399,426 (GRCm39)	P2291L	probably benign	Het
Ss18l2	T	A	9: 121,541,666 (GRCm39)	L61*	probably null	Het
Suco	C	T	1: 161,661,668 (GRCm39)	R921H	probably damaging	Het
Taok2	A	T	7: 126,466,008 (GRCm39)	I910N	probably damaging	Het
Tmem18	G	A	12: 30,638,557 (GRCm39)	M106I		Het
Tob1	T	G	11: 94,105,234 (GRCm39)	S257A	unknown	Het
Trim67	G	C	8: 125,521,497 (GRCm39)	K286N	possibly damaging	Het
Trmt112	A	G	19: 6,887,956 (GRCm39)	N62S	probably benign	Het
Tsc2	C	T	17: 24,819,308 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ube2j1	G	T	4: 33,040,793 (GRCm39)	E100*	probably null	Het
Urgcp	A	T	11: 5,667,517 (GRCm39)	F317I	possibly damaging	Het
Vps9d1	A	T	8: 123,970,522 (GRCm39)	D588E	probably damaging	Het
Wdr38	A	T	2: 38,890,210 (GRCm39)	T115S	probably damaging	Het
Zfp119a	G	A	17: 56,172,593 (GRCm39)	Q417*	probably null	Het
Zfp687	C	T	3: 94,916,442 (GRCm39)	C860Y	probably damaging	Het
Zmym4	T	C	4: 126,799,164 (GRCm39)	N724S	probably benign	Het

Other mutations in Rrp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Rrp8	APN	7	105,382,223 (GRCm39)	unclassified	probably benign
IGL02792:Rrp8	APN	7	105,383,018 (GRCm39)	nonsense	probably null
IGL03010:Rrp8	APN	7	105,383,598 (GRCm39)	missense	probably benign	0.01
IGL03404:Rrp8	APN	7	105,384,145 (GRCm39)	missense	probably benign	0.41
IGL03046:Rrp8	UTSW	7	105,384,109 (GRCm39)	missense	probably benign	0.00
R0682:Rrp8	UTSW	7	105,383,218 (GRCm39)	missense	probably damaging	0.97
R2314:Rrp8	UTSW	7	105,384,011 (GRCm39)	missense	probably benign	0.37
R4222:Rrp8	UTSW	7	105,383,229 (GRCm39)	missense	possibly damaging	0.86
R4778:Rrp8	UTSW	7	105,386,481 (GRCm39)	intron	probably benign
R4940:Rrp8	UTSW	7	105,383,284 (GRCm39)	nonsense	probably null
R5315:Rrp8	UTSW	7	105,383,207 (GRCm39)	missense	probably benign	0.00
R5480:Rrp8	UTSW	7	105,383,336 (GRCm39)	missense	probably damaging	1.00
R5630:Rrp8	UTSW	7	105,382,608 (GRCm39)	missense	possibly damaging	0.83
R6266:Rrp8	UTSW	7	105,385,596 (GRCm39)	missense	probably damaging	1.00
R6351:Rrp8	UTSW	7	105,384,016 (GRCm39)	missense	probably damaging	0.99
R6353:Rrp8	UTSW	7	105,383,325 (GRCm39)	nonsense	probably null
R7070:Rrp8	UTSW	7	105,384,083 (GRCm39)	missense	possibly damaging	0.90
R7092:Rrp8	UTSW	7	105,383,316 (GRCm39)	missense	probably damaging	1.00
R7632:Rrp8	UTSW	7	105,385,727 (GRCm39)	unclassified	probably benign
R8686:Rrp8	UTSW	7	105,382,781 (GRCm39)	missense	probably damaging	1.00
R8806:Rrp8	UTSW	7	105,384,244 (GRCm39)	missense	probably damaging	1.00
R8927:Rrp8	UTSW	7	105,384,073 (GRCm39)	missense	possibly damaging	0.91
R8928:Rrp8	UTSW	7	105,384,073 (GRCm39)	missense	possibly damaging	0.91
R9299:Rrp8	UTSW	7	105,383,384 (GRCm39)	missense	probably damaging	0.98
R9337:Rrp8	UTSW	7	105,383,384 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTGTTTCCCCTGCTCAGAG -3'
(R):5'- GCCTTTCACTGATGGGAACTAAC -3'

Sequencing Primer
(F):5'- GAGAGCATCTCACAGCCCCTC -3'
(R):5'- GGAACTAACATCAGGGACTTCCTTG -3'

Posted On

2022-07-18