Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02138:Mss51'

281395

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mss51

Ensembl Gene

ENSMUSG00000021815

Gene Name

MSS51 mitochondrial translational activator

Synonyms

Zmynd17, 4833444M15Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02138

Quality Score

Status

Chromosome

Chromosomal Location

20532935-20546969 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 20534923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 282 (Y282*)

Ref Sequence

ENSEMBL: ENSMUSP00000022353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022353] [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000224975] [ENSMUST00000225132]

AlphaFold

Q9D5Z5

Predicted Effect

probably null
Transcript: ENSMUST00000022353
AA Change: Y282*

SMART Domains

Protein: ENSMUSP00000022353
Gene: ENSMUSG00000021815
AA Change: Y282*

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

noncoding transcript
Transcript: ENSMUST00000224344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224410

Predicted Effect

probably benign
Transcript: ENSMUST00000224975

Predicted Effect

probably benign
Transcript: ENSMUST00000225132

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	G	14: 32,384,672 (GRCm39)	D431A	possibly damaging	Het
Adgrb1	T	C	15: 74,401,631 (GRCm39)	M209T	probably damaging	Het
Ano8	T	C	8: 71,937,486 (GRCm39)	H86R	probably damaging	Het
Camk1d	G	T	2: 5,449,895 (GRCm39)	Y87*	probably null	Het
Capza3	A	G	6: 139,987,872 (GRCm39)	D157G	probably benign	Het
Ckmt2	A	T	13: 92,009,947 (GRCm39)	D124E	probably benign	Het
Col14a1	C	A	15: 55,284,231 (GRCm39)	Q831K	unknown	Het
Copb2	C	T	9: 98,469,605 (GRCm39)	P829S	probably benign	Het
Dlg5	A	G	14: 24,208,419 (GRCm39)	V929A	probably benign	Het
Dolk	A	G	2: 30,175,991 (GRCm39)	V18A	probably benign	Het
Ecm2	G	T	13: 49,676,304 (GRCm39)	L340F	probably damaging	Het
Hacl1	A	G	14: 31,352,940 (GRCm39)	L149P	probably benign	Het
Higd2a	A	T	13: 54,738,235 (GRCm39)		probably null	Het
Hspa12a	A	T	19: 58,816,730 (GRCm39)	S28R	probably benign	Het
Igkv5-37	A	G	6: 69,940,435 (GRCm39)	Y70H	probably damaging	Het
Iho1	G	A	9: 108,283,820 (GRCm39)	T208I	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Kif26a	T	C	12: 112,141,284 (GRCm39)	S696P	probably damaging	Het
Kng1	A	T	16: 22,886,558 (GRCm39)	N168Y	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lepr	A	G	4: 101,625,264 (GRCm39)	D473G	probably damaging	Het
Lipt1	G	A	1: 37,914,867 (GRCm39)	E308K	possibly damaging	Het
Luc7l3	A	T	11: 94,194,792 (GRCm39)	F76Y	probably benign	Het
Mapk1	A	G	16: 16,841,316 (GRCm39)	I163V	probably benign	Het
Matn3	A	G	12: 9,017,638 (GRCm39)	E430G	possibly damaging	Het
Med13	A	T	11: 86,177,591 (GRCm39)	S1502T	probably damaging	Het
Mlf1	A	T	3: 67,307,046 (GRCm39)	H237L	probably benign	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or7d11	A	T	9: 19,966,196 (GRCm39)	S188T	probably benign	Het
Phrf1	T	A	7: 140,839,196 (GRCm39)		probably benign	Het
Ppme1	C	T	7: 99,983,139 (GRCm39)	M335I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sntg2	T	A	12: 30,357,230 (GRCm39)		probably null	Het
Spryd3	T	C	15: 102,027,354 (GRCm39)		probably benign	Het
Srpx	A	G	X: 9,933,662 (GRCm39)		probably null	Het
St8sia1	G	T	6: 142,909,504 (GRCm39)		probably benign	Het
Stab1	A	G	14: 30,865,470 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,000,047 (GRCm39)	S976R	probably benign	Het
Sycp2	T	A	2: 178,043,783 (GRCm39)	K108*	probably null	Het
Tagap1	T	C	17: 7,223,485 (GRCm39)	T404A	probably damaging	Het
Tg	C	T	15: 66,589,082 (GRCm39)	T21I	probably benign	Het
Tlr4	A	T	4: 66,759,202 (GRCm39)	Y665F	probably damaging	Het
Tmc8	T	G	11: 117,682,081 (GRCm39)	S525A	probably benign	Het
Tor4a	A	T	2: 25,084,810 (GRCm39)	D364E	probably benign	Het
Trim44	T	C	2: 102,211,253 (GRCm39)	I236V	probably benign	Het
Ube2o	A	G	11: 116,434,226 (GRCm39)		probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Xirp2	A	T	2: 67,347,300 (GRCm39)	R3180S	probably benign	Het
Zfp335	A	G	2: 164,735,724 (GRCm39)	C1077R	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
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
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

Posted On

2015-04-16