Mutagenetix > Incidental Mutation

Incidental Mutation 'R6284:Rrp7a'

508133

Institutional Source

Beutler Lab

Gene Symbol

Rrp7a

Ensembl Gene

ENSMUSG00000018040

Gene Name

ribosomal RNA processing 7 homolog A

Synonyms

1110014J01Rik

MMRRC Submission

044454-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83000047-83007002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83006061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 63 (I63N)

Ref Sequence

ENSEMBL: ENSMUSP00000128380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018184] [ENSMUST00000058793] [ENSMUST00000100375] [ENSMUST00000166019] [ENSMUST00000167483]

AlphaFold

Q9D1C9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018184
AA Change: I63N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018184
Gene: ENSMUSG00000018040
AA Change: I63N

Domain	Start	End	E-Value	Type
SCOP:d1l3ka1	56	140	2e-6	SMART
Pfam:RRP7	151	280	8.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058793

SMART Domains

Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815

Domain	Start	End	E-Value	Type
low complexity region	183	196	N/A	INTRINSIC
low complexity region	214	223	N/A	INTRINSIC
low complexity region	260	272	N/A	INTRINSIC
RRM	281	347	5.05e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100375

SMART Domains

Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815

Domain	Start	End	E-Value	Type
low complexity region	154	167	N/A	INTRINSIC
low complexity region	185	194	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
RRM	252	318	5.05e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166019
AA Change: I78N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129142
Gene: ENSMUSG00000018040
AA Change: I78N

Domain	Start	End	E-Value	Type
SCOP:d1l3ka1	71	144	4e-5	SMART
Blast:RRM	75	145	1e-38	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166766

SMART Domains

Protein: ENSMUSP00000127001
Gene: ENSMUSG00000018040

Domain	Start	End	E-Value	Type
Pfam:RRP7	1	51	8.9e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167483
AA Change: I63N

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

SMART Domains

Protein: ENSMUSP00000128380
Gene: ENSMUSG00000018040
AA Change: I63N

Domain	Start	End	E-Value	Type
SCOP:d1l3ka1	56	90	6e-5	SMART
Blast:RRM	60	114	1e-25	BLAST
low complexity region	122	143	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167589

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,324,437 (GRCm39)	G16C	probably damaging	Het
Abca7	G	A	10: 79,840,244 (GRCm39)	V801I	probably benign	Het
Adgrl2	A	T	3: 148,532,143 (GRCm39)	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,735,394 (GRCm39)	T423A	possibly damaging	Het
Anpep	T	A	7: 79,475,550 (GRCm39)	D111V	probably damaging	Het
Atm	T	A	9: 53,356,676 (GRCm39)		probably null	Het
Atp5f1a	T	A	18: 77,866,168 (GRCm39)	S106T	probably benign	Het
Atp5me	T	C	5: 108,581,925 (GRCm39)	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605 (GRCm39)		probably null	Het
Bclaf1	T	G	10: 20,197,906 (GRCm39)		probably null	Het
Bod1l	A	G	5: 41,976,130 (GRCm39)	V1728A	probably benign	Het
Braf	A	G	6: 39,665,216 (GRCm39)	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,232,175 (GRCm39)	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,726,850 (GRCm39)		probably null	Het
Cdh26	G	C	2: 178,091,677 (GRCm39)	G79R	probably damaging	Het
Cenpf	A	G	1: 189,384,939 (GRCm39)	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,536,253 (GRCm39)	F863L	probably damaging	Het
Clstn2	C	T	9: 97,336,727 (GRCm39)	G917S	probably benign	Het
Col6a6	A	T	9: 105,604,426 (GRCm39)		probably null	Het
Cul5	G	A	9: 53,535,035 (GRCm39)	P596L	probably damaging	Het
Dst	A	T	1: 34,268,166 (GRCm39)	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,971,384 (GRCm39)	E69G	possibly damaging	Het
Elp1	A	T	4: 56,762,281 (GRCm39)	I1106K	probably damaging	Het
Erich2	T	A	2: 70,370,028 (GRCm39)	I402N	probably damaging	Het
Fam162b	T	C	10: 51,461,598 (GRCm39)	K155R	probably damaging	Het
Fhip1a	G	A	3: 85,579,995 (GRCm39)	P737S	probably benign	Het
Glb1l2	A	T	9: 26,678,744 (GRCm39)	S466T	probably benign	Het
Kazn	G	A	4: 141,844,508 (GRCm39)	L402F	probably benign	Het
Kcnj13	A	T	1: 87,314,608 (GRCm39)	S205T	probably damaging	Het
Lama1	T	A	17: 68,117,091 (GRCm39)	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,563,411 (GRCm39)	C41G	unknown	Het
Lyar	T	A	5: 38,383,339 (GRCm39)	W77R	probably damaging	Het
Marchf11	G	A	15: 26,409,432 (GRCm39)	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,185,561 (GRCm39)	F869L	probably benign	Het
Myom1	T	A	17: 71,329,887 (GRCm39)	Y6*	probably null	Het
Myzap	T	C	9: 71,466,207 (GRCm39)	I150V	probably benign	Het
Nop14	C	T	5: 34,798,835 (GRCm39)		probably null	Het
Oprl1	T	A	2: 181,359,784 (GRCm39)		probably benign	Het
Pacsin1	T	C	17: 27,927,478 (GRCm39)	L432P	probably damaging	Het
Peak1	A	G	9: 56,167,580 (GRCm39)	L116P	probably benign	Het
Plcb2	C	T	2: 118,547,782 (GRCm39)	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,723,416 (GRCm39)	I269N	probably damaging	Het
Pnpla7	C	A	2: 24,906,630 (GRCm39)	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,076,178 (GRCm39)	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,211,186 (GRCm39)	T113K	probably benign	Het
Slc29a1	A	G	17: 45,900,847 (GRCm39)		probably null	Het
Slco1a7	T	C	6: 141,671,119 (GRCm39)	D451G	probably damaging	Het
Stxbp5	C	A	10: 9,642,931 (GRCm39)	G1056V	probably damaging	Het
Stxbp5	A	C	10: 9,642,923 (GRCm39)	S1059A	probably benign	Het
Taldo1	T	A	7: 140,978,496 (GRCm39)	S149T	possibly damaging	Het
Tlr1	T	C	5: 65,084,442 (GRCm39)	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,558 (GRCm39)	S783P	probably damaging	Het
Trap1	A	G	16: 3,878,673 (GRCm39)	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,601 (GRCm39)	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,773,028 (GRCm39)	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,387,833 (GRCm39)	Y398H	probably damaging	Het
Ube2z	A	G	11: 95,941,233 (GRCm39)	F303S	probably damaging	Het
Vmn1r211	A	G	13: 23,036,254 (GRCm39)	S138P	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp93	T	A	7: 23,975,054 (GRCm39)	C346*	probably null	Het
Zfp938	A	T	10: 82,063,400 (GRCm39)	S52R	possibly damaging	Het
Zp1	A	T	19: 10,893,867 (GRCm39)	L446Q	probably damaging	Het

Other mutations in Rrp7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Rrp7a	APN	15	83,002,282 (GRCm39)	missense	probably benign	0.34
IGL02335:Rrp7a	APN	15	83,006,892 (GRCm39)	missense	probably benign	0.00
IGL02524:Rrp7a	APN	15	83,002,379 (GRCm39)	unclassified	probably benign
R4944:Rrp7a	UTSW	15	83,004,010 (GRCm39)	unclassified	probably benign
R7284:Rrp7a	UTSW	15	83,006,071 (GRCm39)	missense	probably damaging	0.96
R7548:Rrp7a	UTSW	15	83,001,871 (GRCm39)	missense	possibly damaging	0.85
R8018:Rrp7a	UTSW	15	83,001,125 (GRCm39)	missense	possibly damaging	0.49
R8437:Rrp7a	UTSW	15	83,001,773 (GRCm39)	missense	probably damaging	1.00
R9445:Rrp7a	UTSW	15	83,004,084 (GRCm39)	nonsense	probably null
R9650:Rrp7a	UTSW	15	83,004,091 (GRCm39)	critical splice donor site	probably null
Z1177:Rrp7a	UTSW	15	83,006,339 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCTAGAAAGAACTGCAGTGATTAC -3'
(R):5'- ACACAGACCTCCTTTCAGGGTAC -3'

Sequencing Primer
(F):5'- CTGAGCCTCAGGAAGTTCTGAAC -3'
(R):5'- GGTACCCCAAACTCTCCTGCG -3'

Posted On

2018-03-15