Mutagenetix > Incidental Mutation

Incidental Mutation 'R4734:Maml3'

359137

Institutional Source

Beutler Lab

Gene Symbol

Maml3

Ensembl Gene

ENSMUSG00000061143

Gene Name

mastermind like transcriptional coactivator 3

Synonyms

MMRRC Submission

041961-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51685907-52105076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51689875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 483 (D483E)

Ref Sequence

ENSEMBL: ENSMUSP00000113677 (fasta)

Gene Model

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

AlphaFold

D4QGC2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099104

Predicted Effect

probably damaging
Transcript: ENSMUST00000118075
AA Change: D483E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113677
Gene: ENSMUSG00000061143
AA Change: D483E

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

probably damaging
Transcript: ENSMUST00000121440
AA Change: D1129E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: D1129E

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,417	M86K	possibly damaging	Het
2700062C07Rik	A	G	18: 24,470,904	M1V	probably null	Het
Abcb11	T	A	2: 69,323,962	T87S	possibly damaging	Het
Arap3	A	G	18: 37,996,275	V210A	probably benign	Het
Avl9	T	C	6: 56,736,494	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,482,720	K222R	probably benign	Het
Chsy3	C	A	18: 59,179,413	F319L	probably benign	Het
Coro2b	T	C	9: 62,426,578	T345A	probably benign	Het
Cpb1	A	G	3: 20,263,712	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,072,334	I213V	probably benign	Het
Dcaf15	A	G	8: 84,097,728	C586R	probably benign	Het
Ddr2	T	A	1: 169,998,088	E314D	probably benign	Het
Dennd5a	C	T	7: 109,896,336	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,834,115	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,906,999		probably null	Het
Eif2ak4	A	T	2: 118,422,087	H302L	probably damaging	Het
Eif2d	G	T	1: 131,165,152	R399L	probably damaging	Het
Fat2	A	G	11: 55,311,468	V260A	probably benign	Het
Fhod3	T	A	18: 25,028,135	Y575N	probably benign	Het
Fscb	T	C	12: 64,474,470	E74G	possibly damaging	Het
Gdpd2	G	A	X: 100,734,193	M243I	possibly damaging	Het
Glra1	C	A	11: 55,536,384	D42Y	probably damaging	Het
Gm281	T	C	14: 13,845,292	N540S	probably benign	Het
Gm8882	T	A	6: 132,361,928	N109I	unknown	Het
Gnl2	T	C	4: 125,041,018	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,086	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,341,977	H2892L	possibly damaging	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Htr2c	A	G	X: 147,193,797	T163A	probably benign	Het
Impact	T	A	18: 12,985,289	H188Q	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lnx2	C	T	5: 147,029,137	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,638,349	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,562,285	Q458H	probably damaging	Het
Mef2c	T	A	13: 83,662,629	*467R	probably null	Het
Mms19	T	A	19: 41,944,558	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,919,926	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,623,230	Y426H	probably damaging	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr464	T	A	11: 87,914,190	T239S	probably damaging	Het
Olfr470	T	C	7: 107,845,428	I102V	probably benign	Het
Olfr491	A	T	7: 108,317,752	N286I	probably damaging	Het
Olfr566	A	G	7: 102,856,979	I101T	probably damaging	Het
Oog2	T	C	4: 144,196,451	S429P	probably benign	Het
Pcnt	T	C	10: 76,437,206	D93G	probably benign	Het
Pdia5	A	T	16: 35,456,513	M95K	probably benign	Het
Pdzrn4	A	T	15: 92,770,252	R762*	probably null	Het
Piezo1	G	T	8: 122,498,206	Q654K	probably damaging	Het
Ppil3	A	G	1: 58,431,269	Y141H	probably benign	Het
Rassf8	G	T	6: 145,815,540	K197N	probably benign	Het
Ryr2	T	C	13: 11,737,753	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,910,502	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,539,538	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,304,977	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,465,233	S370F	probably damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc2a9	C	A	5: 38,382,099	G353C	probably damaging	Het
Snx33	T	A	9: 56,925,901	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,718,358	V1107M	probably damaging	Het
Supt6	T	C	11: 78,224,683	D761G	probably benign	Het
Tfeb	T	C	17: 47,785,862	V18A	probably benign	Het
Thap12	G	T	7: 98,715,954	C443F	probably damaging	Het
Thap12	T	A	7: 98,715,955	C443*	probably null	Het
Tmem67	T	C	4: 12,063,158	D496G	probably benign	Het
Trappc8	G	A	18: 20,841,572	R900*	probably null	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,442,637	I80L	probably benign	Het
Trpm5	C	A	7: 143,082,785	V472L	probably benign	Het
Tspear	C	T	10: 77,864,695	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,656,018	V238M	probably benign	Het
Usp20	A	G	2: 31,019,824	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,677,533	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zc3h18	A	T	8: 122,383,643	D77V	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	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
IGL02220:Maml3	APN	3	51690218	missense	possibly damaging	0.94
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
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
R8987:Maml3	UTSW	3	51690447	missense	probably damaging	1.00
R9291:Maml3	UTSW	3	51856907	missense	probably benign	0.27
R9548:Maml3	UTSW	3	51856370	missense	possibly damaging	0.81
RF022:Maml3	UTSW	3	51856662	missense	probably damaging	1.00
Z1192:Maml3	UTSW	3	51855744	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTGGAAGTCAGGTGGAAC -3'
(R):5'- CATTGGTCATGCCTGGTCTG -3'

Sequencing Primer
(F):5'- AGTCAGGTGGAACGATGCCC -3'
(R):5'- TGGCATGCCAGCATTCAG -3'

Posted On

2015-11-11