Mutagenetix > Incidental Mutation

Incidental Mutation 'R7272:Mss51'

565369

Institutional Source

Beutler Lab

Gene Symbol

Mss51

Ensembl Gene

ENSMUSG00000021815

Gene Name

MSS51 mitochondrial translational activator

Synonyms

Zmynd17, 4833444M15Rik

MMRRC Submission

045391-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R7272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20532935-20546969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20534981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 263 (T263I)

Ref Sequence

ENSEMBL: ENSMUSP00000022353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022353] [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000225132]

AlphaFold

Q9D5Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022353
AA Change: T263I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022353
Gene: ENSMUSG00000021815
AA Change: T263I

Domain	Start	End	E-Value	Type
low complexity region	3	24	N/A	INTRINSIC
Pfam:zf-MYND	104	148	3.4e-12	PFAM
low complexity region	308	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065504

SMART Domains

Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	37	103	N/A	INTRINSIC
low complexity region	111	129	N/A	INTRINSIC
ANX	177	229	5.92e-26	SMART
ANX	249	301	3.12e-25	SMART
ANX	333	385	1.03e-11	SMART
ANX	408	460	2e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100844

SMART Domains

Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	37	103	N/A	INTRINSIC
low complexity region	111	129	N/A	INTRINSIC
ANX	177	229	5.92e-26	SMART
ANX	249	301	3.12e-25	SMART
ANX	333	385	1.03e-11	SMART
ANX	408	460	2e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225132

Meta Mutation Damage Score

0.4438

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,655 (GRCm39)	I1020T	probably benign	Het
2310057N15Rik	A	T	16: 88,570,523 (GRCm39)	Y172*	probably null	Het
4930558K02Rik	T	A	1: 161,770,092 (GRCm39)	Y139F	possibly damaging	Het
A830018L16Rik	T	G	1: 11,658,695 (GRCm39)	M202R	probably damaging	Het
Abca12	T	C	1: 71,287,591 (GRCm39)	E2450G	probably damaging	Het
Ank2	C	T	3: 126,736,782 (GRCm39)	R3034H	unknown	Het
Anxa9	A	G	3: 95,213,184 (GRCm39)	I54T	probably damaging	Het
Ash1l	A	G	3: 88,961,941 (GRCm39)		probably null	Het
Aspm	T	C	1: 139,386,066 (GRCm39)	I570T	probably benign	Het
Bcar3	A	T	3: 122,302,045 (GRCm39)	I247F	possibly damaging	Het
Cep350	A	G	1: 155,829,334 (GRCm39)	V130A	probably damaging	Het
Cep89	A	T	7: 35,137,888 (GRCm39)	R757S	probably benign	Het
Cryga	A	T	1: 65,142,381 (GRCm39)	I4N	probably damaging	Het
Cyp2d26	T	A	15: 82,676,764 (GRCm39)	Y194F	probably benign	Het
Edn2	G	A	4: 120,019,143 (GRCm39)	R44H	probably damaging	Het
Ep400	G	A	5: 110,903,511 (GRCm39)	Q363*	probably null	Het
Gpr33	T	C	12: 52,070,848 (GRCm39)	T64A	probably damaging	Het
Ice2	T	A	9: 69,324,365 (GRCm39)	S763T	possibly damaging	Het
Itgad	C	A	7: 127,804,245 (GRCm39)	F1169L	probably damaging	Het
Kcnv1	A	G	15: 44,976,576 (GRCm39)	L237P	probably benign	Het
Kctd18	T	C	1: 57,995,710 (GRCm39)	E356G	probably damaging	Het
Krt33a	C	T	11: 99,902,837 (GRCm39)	R329Q	probably damaging	Het
Lama2	C	A	10: 27,000,552 (GRCm39)	G1657C	probably damaging	Het
Marchf3	T	G	18: 56,895,593 (GRCm39)	R217S	probably benign	Het
Mmel1	A	T	4: 154,978,547 (GRCm39)	T660S	probably damaging	Het
Ms4a7	T	A	19: 11,310,642 (GRCm39)	K59*	probably null	Het
Ncaph2	A	G	15: 89,248,385 (GRCm39)	M199V	probably benign	Het
Ndufa4	G	A	6: 11,905,209 (GRCm39)	Q62*	probably null	Het
Nectin4	A	G	1: 171,214,212 (GRCm39)	T456A	probably damaging	Het
Nek1	T	C	8: 61,578,120 (GRCm39)	M1214T	probably benign	Het
Nsf	T	A	11: 103,718,064 (GRCm39)	L710F	probably damaging	Het
Nynrin	G	T	14: 56,107,872 (GRCm39)	G993V	probably damaging	Het
Or1e31	T	A	11: 73,689,695 (GRCm39)	D296V	probably damaging	Het
Pbk	T	A	14: 66,052,621 (GRCm39)	Y155N	probably damaging	Het
Plec	T	C	15: 76,059,153 (GRCm39)	I3595V	possibly damaging	Het
Pom121	G	A	5: 135,409,941 (GRCm39)	T1072I	unknown	Het
Sdc1	T	A	12: 8,840,554 (GRCm39)	H106Q	probably benign	Het
Slc44a3	T	C	3: 121,254,764 (GRCm39)	D618G	probably damaging	Het
Slc9c1	A	G	16: 45,401,878 (GRCm39)	D755G	possibly damaging	Het
Slfn9	T	C	11: 82,872,387 (GRCm39)	Y783C	probably benign	Het
Sorl1	C	T	9: 41,975,006 (GRCm39)		probably null	Het
Spindoc	C	T	19: 7,360,085 (GRCm39)	E28K	possibly damaging	Het
Sptbn1	T	C	11: 30,064,859 (GRCm39)	D1880G	possibly damaging	Het
Sspn	T	A	6: 145,907,200 (GRCm39)	D210E	probably benign	Het
Stx12	A	T	4: 132,584,687 (GRCm39)	I219K	possibly damaging	Het
Syne2	T	C	12: 76,095,417 (GRCm39)	V508A	probably benign	Het
Tkt	G	T	14: 30,287,564 (GRCm39)	R186L	probably damaging	Het
Trmt10a	T	A	3: 137,860,527 (GRCm39)	M241K	probably damaging	Het
Vgll2	C	A	10: 51,903,758 (GRCm39)	A207E	possibly damaging	Het
Vmn1r114	A	G	7: 20,545,543 (GRCm39)	F190S	probably damaging	Het
Xpot	C	T	10: 121,453,094 (GRCm39)		probably null	Het
Yrdc	G	A	4: 124,744,820 (GRCm39)	A85T	probably benign	Het
Zfp385c	C	T	11: 100,520,865 (GRCm39)	R265K	possibly damaging	Het
Zgrf1	A	T	3: 127,392,409 (GRCm39)	I1310F	probably damaging	Het

Other mutations in Mss51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Mss51	APN	14	20,536,235 (GRCm39)	missense	probably damaging	0.98
IGL02138:Mss51	APN	14	20,534,923 (GRCm39)	nonsense	probably null
IGL03137:Mss51	APN	14	20,537,200 (GRCm39)	missense	probably damaging	0.98
IGL03194:Mss51	APN	14	20,535,165 (GRCm39)	missense	probably benign
IGL03225:Mss51	APN	14	20,537,205 (GRCm39)	nonsense	probably null
R0119:Mss51	UTSW	14	20,534,756 (GRCm39)	missense	possibly damaging	0.52
R0299:Mss51	UTSW	14	20,534,756 (GRCm39)	missense	possibly damaging	0.52
R0336:Mss51	UTSW	14	20,533,254 (GRCm39)	missense	possibly damaging	0.89
R0499:Mss51	UTSW	14	20,534,756 (GRCm39)	missense	possibly damaging	0.52
R0619:Mss51	UTSW	14	20,537,641 (GRCm39)	missense	probably benign
R0729:Mss51	UTSW	14	20,533,160 (GRCm39)	missense	probably damaging	1.00
R1835:Mss51	UTSW	14	20,533,246 (GRCm39)	nonsense	probably null
R1863:Mss51	UTSW	14	20,534,936 (GRCm39)	missense	probably damaging	0.98
R1986:Mss51	UTSW	14	20,533,259 (GRCm39)	missense	probably benign	0.00
R2137:Mss51	UTSW	14	20,537,591 (GRCm39)	missense	probably benign	0.02
R5611:Mss51	UTSW	14	20,533,174 (GRCm39)	missense	possibly damaging	0.69
R8325:Mss51	UTSW	14	20,534,771 (GRCm39)	missense	possibly damaging	0.93
R8923:Mss51	UTSW	14	20,537,177 (GRCm39)	missense	possibly damaging	0.83
R9323:Mss51	UTSW	14	20,534,939 (GRCm39)	missense	probably benign	0.21
R9675:Mss51	UTSW	14	20,537,189 (GRCm39)	missense	probably damaging	0.98
Z1176:Mss51	UTSW	14	20,536,214 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAAGTCATGATACAGGGCCC -3'
(R):5'- AATGCTCTTCTGGGTAGTCACTC -3'

Sequencing Primer
(F):5'- GCCACTAAGCTGAATTGTTCCAGG -3'
(R):5'- GATGTCTTGCATGGCTCT -3'

Posted On

2019-06-26