Mutagenetix > Incidental Mutation

Incidental Mutation 'R8799:Rrs1'

671415

Institutional Source

Beutler Lab

Gene Symbol

Rrs1

Ensembl Gene

ENSMUSG00000061024

Gene Name

ribosome biogenesis regulator 1

Synonyms

D1Ertd701e, 5730466A07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8799 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9615633-9617680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9615819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 24 (I24N)

Ref Sequence

ENSEMBL: ENSMUSP00000071955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027044] [ENSMUST00000072079] [ENSMUST00000130927] [ENSMUST00000144177] [ENSMUST00000186467]

AlphaFold

Q9CYH6

Predicted Effect

probably benign
Transcript: ENSMUST00000027044

Predicted Effect

probably damaging
Transcript: ENSMUST00000072079
AA Change: I24N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: I24N

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
Pfam:RRS1	31	193	3.5e-62	PFAM
low complexity region	302	337	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130927

Predicted Effect

probably benign
Transcript: ENSMUST00000144177

SMART Domains

Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911

Domain	Start	End	E-Value	Type
Pfam:Fe-ADH	50	454	2.1e-105	PFAM
Pfam:Fe-ADH_2	53	155	6.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186467

Predicted Effect

probably benign
Transcript: ENSMUST00000190654

Meta Mutation Damage Score

0.5691

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,578 (GRCm39)	C134S	probably damaging	Het
Acox3	T	G	5: 35,747,052 (GRCm39)	F156L	probably damaging	Het
Adprhl1	T	C	8: 13,272,474 (GRCm39)	E1428G	probably benign	Het
Arhgap40	A	T	2: 158,354,758 (GRCm39)	M15L	probably benign	Het
Bahcc1	C	A	11: 120,177,173 (GRCm39)	F2020L	probably damaging	Het
BC024063	A	T	10: 81,945,352 (GRCm39)	H324L	probably benign	Het
Ccdc40	C	A	11: 119,155,292 (GRCm39)	S1177R	probably benign	Het
Ccne2	A	T	4: 11,201,355 (GRCm39)	R294S	probably benign	Het
Cib1	A	C	7: 79,882,291 (GRCm39)	S6R	probably damaging	Het
Csnk2a1	A	G	2: 152,099,886 (GRCm39)	E114G	probably damaging	Het
Cxxc1	A	G	18: 74,354,128 (GRCm39)		probably benign	Het
Decr2	A	C	17: 26,307,911 (GRCm39)	I47M	possibly damaging	Het
Dmxl2	A	G	9: 54,327,027 (GRCm39)		probably null	Het
Dse	G	A	10: 34,060,149 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,708,981 (GRCm39)	V1480A	probably benign	Het
Erap1	A	G	13: 74,805,755 (GRCm39)	I165M	probably benign	Het
Fan1	G	T	7: 64,016,406 (GRCm39)	Q573K	probably damaging	Het
Fndc3a	G	A	14: 72,793,955 (GRCm39)	T906I	probably benign	Het
Gm21915	A	C	9: 40,582,006 (GRCm39)	H33P	possibly damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,624,000 (GRCm39)	Q1384H	probably damaging	Het
Lrrc34	C	T	3: 30,678,979 (GRCm39)	E373K	probably benign	Het
Ly75	A	G	2: 60,178,785 (GRCm39)	F677L	probably damaging	Het
Megf11	A	G	9: 64,588,673 (GRCm39)	D493G	probably benign	Het
Mta3	A	T	17: 84,096,369 (GRCm39)	I348F	possibly damaging	Het
Myo1d	A	T	11: 80,575,205 (GRCm39)	F170L	probably damaging	Het
Nfkbia	A	G	12: 55,539,083 (GRCm39)		probably benign	Het
Nfx1	A	T	4: 41,023,727 (GRCm39)	E1045D	probably damaging	Het
Npffr2	T	G	5: 89,731,177 (GRCm39)	V369G	probably benign	Het
Or14c44	T	C	7: 86,061,854 (GRCm39)	C95R	probably damaging	Het
Or4d5	A	T	9: 40,011,985 (GRCm39)	M267K	possibly damaging	Het
Or4f59	A	T	2: 111,872,528 (GRCm39)	I283N	probably damaging	Het
Or5t18	A	T	2: 86,636,575 (GRCm39)	M256K	probably damaging	Het
Or5w13	G	T	2: 87,524,057 (GRCm39)	H56Q	possibly damaging	Het
Otoa	G	A	7: 120,691,894 (GRCm39)	E41K	possibly damaging	Het
Podxl	A	G	6: 31,501,400 (GRCm39)	V385A	probably damaging	Het
Ppp4r4	C	T	12: 103,567,623 (GRCm39)	T673M	possibly damaging	Het
Rbm20	G	T	19: 53,821,120 (GRCm39)	C525F	probably damaging	Het
Rnf17	A	T	14: 56,737,886 (GRCm39)	E1222D	probably damaging	Het
Ros1	G	A	10: 51,922,143 (GRCm39)	A2331V	probably benign	Het
Sec11a	A	G	7: 80,584,850 (GRCm39)	V29A	possibly damaging	Het
Shisa3	T	A	5: 67,768,749 (GRCm39)	Y216*	probably null	Het
Slc22a2	A	T	17: 12,831,425 (GRCm39)	Y405F	probably benign	Het
Slc2a12	A	T	10: 22,568,105 (GRCm39)	M511L	possibly damaging	Het
Slc38a9	T	A	13: 112,840,136 (GRCm39)	H338Q	probably damaging	Het
Slco1c1	T	G	6: 141,505,531 (GRCm39)	S486A	probably benign	Het
Slit2	T	C	5: 48,461,524 (GRCm39)	S1524P	possibly damaging	Het
Spata31d1c	T	C	13: 65,184,140 (GRCm39)	S561P	possibly damaging	Het
Stac3	T	A	10: 127,340,781 (GRCm39)	M182K	probably damaging	Het
Stt3b	T	C	9: 115,077,685 (GRCm39)	E689G	probably damaging	Het
Suclg1	A	G	6: 73,248,091 (GRCm39)	K271E	probably benign	Het
Tas1r1	A	G	4: 152,116,708 (GRCm39)	Y309H	probably benign	Het
Tbc1d5	TGC	TGCCGC	17: 51,106,969 (GRCm39)		probably benign	Het
Tbc1d5	TG	TGCGG	17: 51,106,978 (GRCm39)		probably benign	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tbc1d5	TGC	TGCGGC	17: 51,106,963 (GRCm39)		probably benign	Het
Tmem101	A	G	11: 102,044,336 (GRCm39)	F184L	probably benign	Het
Zfp474	A	G	18: 52,772,166 (GRCm39)	Q273R	probably benign	Het
Zfyve28	A	G	5: 34,390,670 (GRCm39)	L197P	probably damaging	Het

Other mutations in Rrs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03098:Rrs1	UTSW	1	9,616,328 (GRCm39)	frame shift	probably null
PIT1430001:Rrs1	UTSW	1	9,616,150 (GRCm39)	missense	probably damaging	1.00
R0207:Rrs1	UTSW	1	9,615,992 (GRCm39)	missense	probably damaging	0.96
R0207:Rrs1	UTSW	1	9,615,987 (GRCm39)	splice site	probably null
R0577:Rrs1	UTSW	1	9,616,026 (GRCm39)	splice site	probably null
R1165:Rrs1	UTSW	1	9,615,992 (GRCm39)	missense	probably damaging	0.96
R1222:Rrs1	UTSW	1	9,616,080 (GRCm39)	missense	probably benign	0.00
R1238:Rrs1	UTSW	1	9,616,026 (GRCm39)	splice site	probably null
R1397:Rrs1	UTSW	1	9,615,992 (GRCm39)	missense	probably damaging	0.96
R1598:Rrs1	UTSW	1	9,616,137 (GRCm39)	missense	probably benign	0.15
R2338:Rrs1	UTSW	1	9,616,026 (GRCm39)	splice site	probably null
R4280:Rrs1	UTSW	1	9,616,364 (GRCm39)	missense	probably damaging	0.96
R4287:Rrs1	UTSW	1	9,616,448 (GRCm39)	missense	possibly damaging	0.82
R4287:Rrs1	UTSW	1	9,616,440 (GRCm39)	missense	probably damaging	1.00
R4298:Rrs1	UTSW	1	9,616,448 (GRCm39)	missense	possibly damaging	0.82
R4326:Rrs1	UTSW	1	9,616,566 (GRCm39)	missense	possibly damaging	0.95
R4475:Rrs1	UTSW	1	9,615,810 (GRCm39)	missense	probably damaging	1.00
R4566:Rrs1	UTSW	1	9,616,452 (GRCm39)	missense	probably damaging	1.00
R4986:Rrs1	UTSW	1	9,615,992 (GRCm39)	missense	probably damaging	0.96
R6597:Rrs1	UTSW	1	9,616,601 (GRCm39)	missense	probably damaging	0.98
R7529:Rrs1	UTSW	1	9,616,417 (GRCm39)	missense	probably benign
R7728:Rrs1	UTSW	1	9,616,623 (GRCm39)	missense	possibly damaging	0.78
R8134:Rrs1	UTSW	1	9,615,645 (GRCm39)	unclassified	probably benign
R9060:Rrs1	UTSW	1	9,616,677 (GRCm39)	missense	probably damaging	1.00
R9360:Rrs1	UTSW	1	9,616,845 (GRCm39)	makesense	probably null
R9609:Rrs1	UTSW	1	9,616,518 (GRCm39)	missense	probably benign	0.30
R9685:Rrs1	UTSW	1	9,616,390 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- ACCCGGAAGTGATCTTTCCTC -3'
(R):5'- TTCTTCTTGGGACGGATTCC -3'

Sequencing Primer
(F):5'- GGAAGTGATCTTTCCTCTTCCGG -3'
(R):5'- ACGGATTCCCTTAAGGCGC -3'

Posted On

2021-04-30