Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02220:Maml3'

285106

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Maml3

Ensembl Gene

ENSMUSG00000061143

Gene Name

mastermind like transcriptional coactivator 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

51685907-52105076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51690218 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 369 (V369A)

Ref Sequence

ENSEMBL: ENSMUSP00000113677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118075] [ENSMUST00000121440]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099104

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118075
AA Change: V369A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
AA Change: V369A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
coiled coil region	90	132	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121440
AA Change: V1015A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: V1015A

Domain	Start	End	E-Value	Type
low complexity region	5	11	N/A	INTRINSIC
low complexity region	12	32	N/A	INTRINSIC
low complexity region	44	65	N/A	INTRINSIC
MamL-1	67	126	6.54e-30	SMART
low complexity region	436	454	N/A	INTRINSIC
coiled coil region	459	502	N/A	INTRINSIC
low complexity region	504	515	N/A	INTRINSIC
low complexity region	621	647	N/A	INTRINSIC
low complexity region	698	714	N/A	INTRINSIC
coiled coil region	736	778	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193403

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,711,172	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,977,499	M1V	probably null	Het
Anks1	T	C	17: 28,054,707	I977T	probably damaging	Het
Bcar1	T	C	8: 111,711,207	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,974,891	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,514,879	G473D	probably damaging	Het
Cdh23	G	T	10: 60,305,124	H3148Q	probably damaging	Het
Col6a4	A	G	9: 106,062,942	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,259,148		probably benign	Het
D130043K22Rik	G	A	13: 24,883,755	G825S	possibly damaging	Het
Dera	T	A	6: 137,780,817		probably null	Het
Dnah17	G	T	11: 118,072,967	Y2506*	probably null	Het
Enam	T	A	5: 88,504,559	L1309*	probably null	Het
Fbxo15	G	A	18: 84,964,192		probably null	Het
Fgfbp1	T	C	5: 43,979,486	K155E	probably damaging	Het
Foxj2	C	T	6: 122,838,581		probably benign	Het
Fuca1	A	G	4: 135,939,219		probably benign	Het
Gad1-ps	T	A	10: 99,445,322		noncoding transcript	Het
H2-Eb2	C	T	17: 34,325,687		probably benign	Het
Insr	A	T	8: 3,159,578	F1168L	probably damaging	Het
Isx	T	A	8: 74,892,705	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,367,989		probably benign	Het
Lin9	T	C	1: 180,667,367	I218T	probably damaging	Het
Llgl2	C	A	11: 115,845,379	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,829,309	E488G	possibly damaging	Het
Mthfsl	A	G	9: 88,715,655	I14T	probably damaging	Het
Myo3b	A	G	2: 70,289,579		probably benign	Het
Nfkbil1	T	C	17: 35,220,746	R264G	possibly damaging	Het
Olfr140	A	G	2: 90,051,694	L210P	probably damaging	Het
Pde5a	G	T	3: 122,748,382	A174S	probably benign	Het
Plch1	A	T	3: 63,698,961	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,481,775	R1171L	probably damaging	Het
Prom1	T	C	5: 44,014,789	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,743		probably benign	Het
Samsn1	A	G	16: 75,883,875		probably null	Het
Sbno2	T	A	10: 80,072,368	T66S	probably benign	Het
Serpina1c	T	A	12: 103,896,079	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,188,270		probably null	Het
Slc18a2	A	G	19: 59,276,556	E324G	probably benign	Het
Slc40a1	A	T	1: 45,911,335	M319K	probably damaging	Het
Slc44a5	T	C	3: 154,250,971	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,842,500	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,190,716	F545S	probably benign	Het
Svop	T	C	5: 114,065,528	D65G	probably benign	Het
Tex30	A	T	1: 44,087,022	S182R	probably benign	Het
Tmem121b	T	C	6: 120,492,337	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 60,973,492		probably benign	Het
Tnrc6a	T	C	7: 123,170,456	S490P	probably benign	Het
Ubr4	A	G	4: 139,388,435	T82A	probably benign	Het
Vps16	A	G	2: 130,441,653	D589G	possibly damaging	Het
Zscan29	A	C	2: 121,166,689	S184A	probably damaging	Het

Other mutations in Maml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Maml3	APN	3	51690704	missense	probably benign	0.13
IGL01138:Maml3	APN	3	51690558	missense	possibly damaging	0.87
IGL02173:Maml3	APN	3	51690787	missense	probably damaging	0.96
IGL02725:Maml3	APN	3	52103774	missense	probably damaging	0.97
IGL02838:Maml3	APN	3	51690090	missense	probably damaging	1.00
R0683:Maml3	UTSW	3	51856752	nonsense	probably null
R1966:Maml3	UTSW	3	52104139	missense	unknown
R1980:Maml3	UTSW	3	52104052	missense	unknown
R1989:Maml3	UTSW	3	51697758	missense	probably damaging	0.98
R1992:Maml3	UTSW	3	51690757	missense	probably benign	0.01
R2047:Maml3	UTSW	3	51690445	missense	probably damaging	1.00
R2113:Maml3	UTSW	3	51690656	missense	probably damaging	1.00
R2876:Maml3	UTSW	3	51690059	missense	possibly damaging	0.86
R3176:Maml3	UTSW	3	51856930	missense	possibly damaging	0.62
R3276:Maml3	UTSW	3	51856930	missense	possibly damaging	0.62
R4191:Maml3	UTSW	3	51689969	missense	probably benign
R4576:Maml3	UTSW	3	51856506	nonsense	probably null
R4609:Maml3	UTSW	3	51855592	missense	probably damaging	1.00
R4628:Maml3	UTSW	3	51796470	intron	probably benign
R4734:Maml3	UTSW	3	51689875	missense	probably damaging	1.00
R4776:Maml3	UTSW	3	51856532	missense	probably benign	0.28
R4868:Maml3	UTSW	3	52103924	nonsense	probably null
R4889:Maml3	UTSW	3	51694510	intron	probably benign
R4891:Maml3	UTSW	3	51694510	intron	probably benign
R4947:Maml3	UTSW	3	51856539	missense	probably benign	0.01
R5011:Maml3	UTSW	3	51690775	missense	possibly damaging	0.87
R5047:Maml3	UTSW	3	51690841	missense	possibly damaging	0.88
R5344:Maml3	UTSW	3	52103725	missense	probably damaging	0.99
R5743:Maml3	UTSW	3	52104132	missense	unknown
R6724:Maml3	UTSW	3	51855875	missense	probably damaging	1.00
R6885:Maml3	UTSW	3	51697579
R6938:Maml3	UTSW	3	52103738	missense	probably damaging	0.98
R7581:Maml3	UTSW	3	51856768	missense	probably benign	0.06
R7895:Maml3	UTSW	3	51697722	missense	probably damaging	1.00
R8059:Maml3	UTSW	3	51856689	missense	probably damaging	1.00
R8404:Maml3	UTSW	3	51690656	missense	probably damaging	1.00
R8551:Maml3	UTSW	3	51857067	missense	probably benign	0.14
RF022:Maml3	UTSW	3	51856662	missense	probably damaging	1.00

Posted On

2015-04-16