Mutagenetix > Incidental Mutation

Incidental Mutation 'R9017:Mrps17'

686066

Institutional Source

Beutler Lab

Gene Symbol

Mrps17

Ensembl Gene

ENSMUSG00000034211

Gene Name

mitochondrial ribosomal protein S17

Synonyms

MMRRC Submission

068847-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R9017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129792514-129795776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129793857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 17 (V17A)

Ref Sequence

ENSEMBL: ENSMUSP00000040281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042191] [ENSMUST00000118420] [ENSMUST00000119576] [ENSMUST00000119604] [ENSMUST00000119985] [ENSMUST00000121339] [ENSMUST00000121813] [ENSMUST00000136108] [ENSMUST00000138812] [ENSMUST00000154358]

AlphaFold

Q9CQE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042191
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040281
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118420
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112993
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119576
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112779
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	83	1.1e-17	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119604
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114012
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119985
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112762
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121339
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114125
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121813
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114059
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136108
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122093
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	3.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000138812
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000154358
AA Change: V17A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115189
Gene: ENSMUSG00000034211
AA Change: V17A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	75	5.7e-14	PFAM

Meta Mutation Damage Score

0.6754

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,211 (GRCm39)	T629A	probably benign	Het
Afg3l2	A	G	18: 67,542,550 (GRCm39)	V632A	possibly damaging	Het
Ahnak	G	A	19: 8,987,487 (GRCm39)	E2924K	probably damaging	Het
Ampd1	A	G	3: 102,995,786 (GRCm39)	Y232C	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Atp8b4	A	T	2: 126,275,841 (GRCm39)	N130K	probably benign	Het
Cdh15	T	C	8: 123,584,256 (GRCm39)		probably null	Het
Cep70	T	C	9: 99,181,829 (GRCm39)	I613T	possibly damaging	Het
Cfap54	C	T	10: 92,651,883 (GRCm39)	V3056I	probably benign	Het
Chrna2	T	C	14: 66,386,282 (GRCm39)	F143L	probably benign	Het
Cmya5	C	T	13: 93,228,572 (GRCm39)	R2172H	probably benign	Het
Col17a1	T	C	19: 47,657,898 (GRCm39)	E424G	probably benign	Het
Crybg1	T	C	10: 43,880,477 (GRCm39)	E237G	probably benign	Het
Ctnnd2	G	A	15: 30,881,316 (GRCm39)	C732Y	probably damaging	Het
Dcaf12	T	C	4: 41,299,411 (GRCm39)	N264S	probably benign	Het
Dennd4c	A	G	4: 86,743,349 (GRCm39)	S1064G	probably benign	Het
Dsc2	A	T	18: 20,176,968 (GRCm39)	Y360N	probably damaging	Het
E2f3	T	G	13: 30,097,478 (GRCm39)	D295A	probably damaging	Het
Eef2	T	C	10: 81,015,487 (GRCm39)	L336P	possibly damaging	Het
Fanca	A	G	8: 124,035,307 (GRCm39)	S213P	possibly damaging	Het
Fpgt	A	T	3: 154,792,903 (GRCm39)	S375T	probably benign	Het
Gad1	G	A	2: 70,416,206 (GRCm39)	V222I	probably benign	Het
Gm5930	A	T	14: 44,568,858 (GRCm39)	Y255N	possibly damaging	Het
Gpr55	T	C	1: 85,868,624 (GRCm39)	N319S	probably benign	Het
Grik2	T	A	10: 48,989,555 (GRCm39)	I825F	possibly damaging	Het
Hcn4	T	C	9: 58,731,482 (GRCm39)	S230P	unknown	Het
Kansl3	T	C	1: 36,393,861 (GRCm39)	I222V	probably benign	Het
Kif20b	T	C	19: 34,927,203 (GRCm39)	S822P	probably benign	Het
Kremen2	T	A	17: 23,964,737 (GRCm39)		probably benign	Het
Krt71	G	T	15: 101,651,100 (GRCm39)	R128S	possibly damaging	Het
Lrp4	A	T	2: 91,324,397 (GRCm39)	N1244I	possibly damaging	Het
Lrrc66	T	C	5: 73,765,244 (GRCm39)	S600G	possibly damaging	Het
Mrc2	T	A	11: 105,216,711 (GRCm39)	C167S	probably damaging	Het
Muc20	A	T	16: 32,614,840 (GRCm39)	L179Q	unknown	Het
Or13g1	A	T	7: 85,955,957 (GRCm39)	Y121*	probably null	Het
Or13p8	T	A	4: 118,583,565 (GRCm39)	F40L	probably benign	Het
Or4c29	G	T	2: 88,739,951 (GRCm39)	T262K	probably damaging	Het
Otop2	T	C	11: 115,214,431 (GRCm39)	F63L	probably benign	Het
Pde3b	C	T	7: 114,015,695 (GRCm39)	Q304*	probably null	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Plekhg4	A	G	8: 106,105,332 (GRCm39)	E599G	possibly damaging	Het
Ppargc1a	C	A	5: 51,630,251 (GRCm39)	R622L	unknown	Het
Ppip5k2	A	G	1: 97,655,139 (GRCm39)	L879P	probably damaging	Het
Prepl	C	T	17: 85,376,366 (GRCm39)	V563M	possibly damaging	Het
Prom1	G	T	5: 44,204,870 (GRCm39)	D201E	probably damaging	Het
Psmd1	T	A	1: 86,054,231 (GRCm39)	D723E	probably damaging	Het
Sall2	A	T	14: 52,550,719 (GRCm39)	N825K	possibly damaging	Het
Sds	A	T	5: 120,618,655 (GRCm39)	M70L	probably benign	Het
Sema4c	C	T	1: 36,592,079 (GRCm39)	R256H	probably damaging	Het
Sik1	T	C	17: 32,070,545 (GRCm39)	Y100C	probably damaging	Het
Slc13a5	T	A	11: 72,138,588 (GRCm39)	I452F	probably damaging	Het
Slc25a24	A	G	3: 109,062,395 (GRCm39)	I162V	possibly damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tenm3	T	A	8: 48,707,668 (GRCm39)	N1710I	probably damaging	Het
Tmem115	T	A	9: 107,411,880 (GRCm39)	M68K	probably benign	Het
Tmem132d	T	C	5: 127,866,936 (GRCm39)	I655V	probably benign	Het
Tmem132d	T	C	5: 128,346,316 (GRCm39)	I69V	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Trim9	A	G	12: 70,314,013 (GRCm39)	M544T	probably benign	Het
Ttll3	G	A	6: 113,389,850 (GRCm39)	R745H	probably benign	Het
Ttn	G	T	2: 76,737,931 (GRCm39)	L4249I	unknown	Het
Unc79	G	A	12: 103,074,874 (GRCm39)		probably null	Het
Vmn1r196	T	C	13: 22,478,254 (GRCm39)	C298R	probably benign	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Zfp853	A	G	5: 143,274,243 (GRCm39)	L474P	unknown	Het

Other mutations in Mrps17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Mrps17	APN	5	129,793,829 (GRCm39)	missense	probably benign	0.01
IGL01904:Mrps17	APN	5	129,793,865 (GRCm39)	missense	probably damaging	1.00
IGL02137:Mrps17	APN	5	129,793,847 (GRCm39)	missense	probably benign	0.16
IGL02139:Mrps17	APN	5	129,793,860 (GRCm39)	missense	probably damaging	0.97
IGL03266:Mrps17	APN	5	129,793,806 (GRCm39)	utr 5 prime	probably benign
R0350:Mrps17	UTSW	5	129,795,209 (GRCm39)	unclassified	probably benign
R2410:Mrps17	UTSW	5	129,795,047 (GRCm39)	missense	probably damaging	1.00
R7329:Mrps17	UTSW	5	129,793,705 (GRCm39)	intron	probably benign
R7337:Mrps17	UTSW	5	129,793,863 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCAGCCTGTGTATAATTTCAG -3'
(R):5'- TTTTCCGCTCAGACCCTAAAG -3'

Sequencing Primer
(F):5'- TACAGAGGTTTTGAGCCACC -3'
(R):5'- GTAAACATCTGGCATGTGACTCC -3'

Posted On

2021-10-11