Mutagenetix > Incidental Mutation

Incidental Mutation 'R2137:Mss51'

235909

Institutional Source

Beutler Lab

Gene Symbol

Mss51

Ensembl Gene

ENSMUSG00000021815

Gene Name

MSS51 mitochondrial translational activator

Synonyms

Zmynd17, 4833444M15Rik

MMRRC Submission

040140-MU

Accession Numbers

Essential gene?

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

Stock #

R2137 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20532935-20546969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20537591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 47 (I47V)

Ref Sequence

ENSEMBL: ENSMUSP00000022353 (fasta)

Gene Model

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

AlphaFold

Q9D5Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000022353
AA Change: I47V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022353
Gene: ENSMUSG00000021815
AA Change: I47V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	C	T	10: 81,482,143 (GRCm39)	T88I	probably damaging	Het
Atm	A	T	9: 53,364,675 (GRCm39)	V49D	probably damaging	Het
Bub1b	G	T	2: 118,467,199 (GRCm39)	E841*	probably null	Het
Cdh20	A	T	1: 110,027,836 (GRCm39)	N527I	probably damaging	Het
Cdh22	G	A	2: 164,958,314 (GRCm39)		probably benign	Het
Cog1	T	C	11: 113,550,127 (GRCm39)	L262P	probably damaging	Het
Col22a1	T	C	15: 71,878,797 (GRCm39)	H120R	possibly damaging	Het
Col4a2	T	C	8: 11,483,749 (GRCm39)	S890P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Evpl	T	C	11: 116,112,665 (GRCm39)	E1675G	probably damaging	Het
Faiml	G	A	9: 99,114,545 (GRCm39)	P115S	probably benign	Het
Fgg	A	T	3: 82,915,745 (GRCm39)	D62V	possibly damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Galntl6	C	T	8: 58,988,939 (GRCm39)		probably null	Het
Glyr1	T	C	16: 4,836,346 (GRCm39)	Y501C	probably benign	Het
Gm9847	G	T	12: 14,545,082 (GRCm39)		noncoding transcript	Het
Gria4	T	G	9: 4,427,026 (GRCm39)		probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Il6st	C	A	13: 112,639,392 (GRCm39)	H606N	possibly damaging	Het
Itprid1	A	G	6: 55,866,174 (GRCm39)	Q189R	probably damaging	Het
Kctd10	A	G	5: 114,505,389 (GRCm39)	F202L	probably damaging	Het
Kif17	T	A	4: 137,989,978 (GRCm39)	D55E	probably damaging	Het
Klf1	C	T	8: 85,629,775 (GRCm39)	A200V	possibly damaging	Het
Klhl32	A	T	4: 24,629,275 (GRCm39)	Y497*	probably null	Het
Kng2	G	T	16: 22,816,076 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,577,611 (GRCm39)	V245A	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Myoz2	G	A	3: 122,827,861 (GRCm39)	T19M	probably benign	Het
Nampt	T	A	12: 32,880,309 (GRCm39)	N67K	probably benign	Het
Ncor2	A	T	5: 125,107,776 (GRCm39)	I1607K	probably damaging	Het
Nudt4	T	C	10: 95,399,600 (GRCm39)	Q7R	probably damaging	Het
Or5b119	A	G	19: 13,457,173 (GRCm39)	Y130H	probably damaging	Het
Or5b121	T	A	19: 13,507,802 (GRCm39)	I255N	probably damaging	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Pgm2	A	T	5: 64,273,709 (GRCm39)	M565L	probably benign	Het
Phactr1	T	G	13: 43,288,651 (GRCm39)	F639V	possibly damaging	Het
Plod3	C	A	5: 137,017,571 (GRCm39)	R165S	probably damaging	Het
Polr2b	T	A	5: 77,468,193 (GRCm39)	N164K	probably benign	Het
Rcbtb2	G	A	14: 73,399,491 (GRCm39)	G52S	probably damaging	Het
Rfc1	A	G	5: 65,468,382 (GRCm39)		probably null	Het
Rheb	A	G	5: 25,012,601 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor2	G	A	13: 24,905,817 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scg3	A	T	9: 75,584,092 (GRCm39)	D136E	probably damaging	Het
Slc10a4	C	T	5: 73,164,923 (GRCm39)	L172F	probably damaging	Het
Slc35c2	A	G	2: 165,123,299 (GRCm39)	Y113H	probably damaging	Het
Slc47a1	T	A	11: 61,235,318 (GRCm39)	D505V	probably benign	Het
Snap29	C	A	16: 17,246,113 (GRCm39)	D244E	possibly damaging	Het
Taar1	T	C	10: 23,797,168 (GRCm39)	F289L	probably benign	Het
Thbs2	T	A	17: 14,893,568 (GRCm39)	N871Y	probably damaging	Het
Tmem108	T	A	9: 103,377,162 (GRCm39)	T96S	possibly damaging	Het
Tnk2	G	T	16: 32,489,620 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,302,028 (GRCm39)	M928K	possibly damaging	Het
Tuba3b	A	G	6: 145,564,559 (GRCm39)	I110V	probably benign	Het
Tyk2	A	G	9: 21,022,281 (GRCm39)		probably benign	Het
Ugt1a9	T	A	1: 87,998,759 (GRCm39)	C70S	probably benign	Het
Vmn2r10	A	T	5: 109,151,410 (GRCm39)	I68K	possibly damaging	Het
Wfs1	T	C	5: 37,124,845 (GRCm39)	E682G	probably damaging	Het
Zfp213	T	C	17: 23,778,481 (GRCm39)		probably null	Het
Zfp809	T	C	9: 22,146,434 (GRCm39)	V41A	probably benign	Het
Zfp831	A	G	2: 174,547,539 (GRCm39)	K1574R	possibly 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
R5611:Mss51	UTSW	14	20,533,174 (GRCm39)	missense	possibly damaging	0.69
R7272:Mss51	UTSW	14	20,534,981 (GRCm39)	missense	probably damaging	0.97
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'- GGGATGAGCATCTTCCAAACC -3'
(R):5'- TATTTAGCACTGGTCCCCAAG -3'

Sequencing Primer
(F):5'- GGATGAGCATCTTCCAAACCTCTTC -3'
(R):5'- AAGTTCATTGGTCATGGCTCC -3'

Posted On

2014-10-01