Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Mvb12a'

89207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mvb12a

Ensembl Gene

ENSMUSG00000031813

Gene Name

multivesicular body subunit 12A

Synonyms

1110012M11Rik, Fam125a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

71995552-72000670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71997946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 120 (V120E)

Ref Sequence

ENSEMBL: ENSMUSP00000034272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034272] [ENSMUST00000212326] [ENSMUST00000212954]

AlphaFold

Q78HU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034272
AA Change: V120E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034272
Gene: ENSMUSG00000031813
AA Change: V120E

Domain	Start	End	E-Value	Type
Pfam:DUF2464	8	259	2e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212234

Predicted Effect

probably benign
Transcript: ENSMUST00000212326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212659

Predicted Effect

probably benign
Transcript: ENSMUST00000212954

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,135,136 (GRCm39)	D216E	probably benign	Het
Abcc4	C	A	14: 118,836,753 (GRCm39)	L669F	probably benign	Het
Adam29	C	T	8: 56,324,456 (GRCm39)	G666D	probably damaging	Het
Adat2	T	G	10: 13,435,982 (GRCm39)	M109R	probably null	Het
Atf3	T	A	1: 190,903,693 (GRCm39)	T178S	probably benign	Het
Birc6	T	A	17: 74,933,998 (GRCm39)	Y2522*	probably null	Het
Ccr8	G	A	9: 119,923,691 (GRCm39)	G269R	probably damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Chrna4	C	T	2: 180,670,461 (GRCm39)	V432I	probably benign	Het
Commd8	A	G	5: 72,322,722 (GRCm39)	V65A	probably benign	Het
Cyp2j13	A	G	4: 95,965,552 (GRCm39)	F52L	possibly damaging	Het
Desi1	T	A	15: 81,886,789 (GRCm39)	K45*	probably null	Het
Dmbt1	T	A	7: 130,718,457 (GRCm39)	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,791,093 (GRCm39)	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,458,754 (GRCm39)	L3795V	probably damaging	Het
Dnai4	T	C	4: 102,905,558 (GRCm39)	D741G	possibly damaging	Het
Fam221b	T	C	4: 43,660,135 (GRCm39)		probably null	Het
Fbxw18	A	T	9: 109,517,889 (GRCm39)	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293 (GRCm39)	Y125C	unknown	Het
Gcsam	T	C	16: 45,436,315 (GRCm39)	Y11H	probably damaging	Het
Gucy2f	G	T	X: 140,944,730 (GRCm39)	D410E	probably damaging	Het
Hdac3	C	T	18: 38,085,648 (GRCm39)	A53T	probably benign	Het
Lamp2	A	G	X: 37,520,752 (GRCm39)	L244P	probably damaging	Het
Lrrk1	A	T	7: 65,915,198 (GRCm39)	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,005,393 (GRCm39)	D434E	probably benign	Het
Mcmbp	A	G	7: 128,308,888 (GRCm39)	Y378H	probably damaging	Het
Nbeal2	A	C	9: 110,458,302 (GRCm39)	W2063G	probably damaging	Het
Neto1	A	C	18: 86,414,033 (GRCm39)	H9P	possibly damaging	Het
Nmu	C	T	5: 76,488,668 (GRCm39)	V126M	probably damaging	Het
Odf2	T	C	2: 29,804,321 (GRCm39)		probably benign	Het
Or2y15	A	G	11: 49,351,043 (GRCm39)	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,130,217 (GRCm39)	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,298,028 (GRCm39)	E1586*	probably null	Het
Plcb3	C	A	19: 6,933,211 (GRCm39)	R970L	probably damaging	Het
Plxna3	A	G	X: 73,378,914 (GRCm39)	E686G	probably damaging	Het
Polrmt	T	A	10: 79,575,985 (GRCm39)	Y586F	probably benign	Het
Ppt1	T	A	4: 122,748,218 (GRCm39)	F225I	probably damaging	Het
Prcc	T	G	3: 87,779,548 (GRCm39)	D162A	probably damaging	Het
Ripor1	T	C	8: 106,346,562 (GRCm39)		probably benign	Het
Rnaseh1	A	G	12: 28,709,008 (GRCm39)	H263R	probably damaging	Het
Rnf19b	T	A	4: 128,974,211 (GRCm39)	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,605,088 (GRCm39)	T23S	probably damaging	Het
Slc34a1	T	C	13: 24,003,121 (GRCm39)		probably null	Het
Slc35f4	T	C	14: 49,536,334 (GRCm39)	M434V	probably benign	Het
Slc52a3	C	T	2: 151,846,564 (GRCm39)	T175I	probably benign	Het
Slc5a2	C	T	7: 127,869,794 (GRCm39)	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,400,892 (GRCm39)	S108P	probably benign	Het
Thnsl2	T	G	6: 71,116,777 (GRCm39)	Q125P	probably benign	Het
Ttc13	T	C	8: 125,403,110 (GRCm39)	D672G	probably damaging	Het
Ttn	G	T	2: 76,584,089 (GRCm39)	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,152,629 (GRCm39)	F792L	probably damaging	Het
Vac14	T	C	8: 111,439,430 (GRCm39)	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,314 (GRCm39)	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,368,384 (GRCm39)	V104D	probably damaging	Het
Zfp738	A	T	13: 67,831,520 (GRCm39)		probably null	Het
Zscan5b	A	C	7: 6,234,421 (GRCm39)	H149P	probably benign	Het

Other mutations in Mvb12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0265:Mvb12a	UTSW	8	71,999,654 (GRCm39)	missense	probably damaging	1.00
R0848:Mvb12a	UTSW	8	71,998,422 (GRCm39)	missense	probably benign	0.06
R4505:Mvb12a	UTSW	8	71,996,103 (GRCm39)	missense	probably benign	0.13
R4506:Mvb12a	UTSW	8	71,996,103 (GRCm39)	missense	probably benign	0.13
R6834:Mvb12a	UTSW	8	71,997,896 (GRCm39)	missense	probably benign	0.03
R7809:Mvb12a	UTSW	8	71,998,306 (GRCm39)	missense	probably benign	0.21
R8289:Mvb12a	UTSW	8	71,995,703 (GRCm39)	critical splice donor site	probably null
R8297:Mvb12a	UTSW	8	71,997,888 (GRCm39)	missense	probably damaging	1.00
R9287:Mvb12a	UTSW	8	71,999,638 (GRCm39)	missense	probably damaging	1.00
X0058:Mvb12a	UTSW	8	71,998,479 (GRCm39)	missense	probably damaging	1.00
X0067:Mvb12a	UTSW	8	72,000,220 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-12-03