Mutagenetix > Incidental Mutation

Incidental Mutation 'R2880:Maml2'

260281

Institutional Source

Beutler Lab

Gene Symbol

Maml2

Ensembl Gene

ENSMUSG00000031925

Gene Name

mastermind like transcriptional coactivator 2

Synonyms

MMRRC Submission

040468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13298306-13620684 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 13531893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034401] [ENSMUST00000159294]

AlphaFold

F6U238

Predicted Effect

probably null
Transcript: ENSMUST00000034401

SMART Domains

Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC
low complexity region	144	163	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159294
AA Change: Q369L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: Q369L

Domain	Start	End	E-Value	Type
low complexity region	227	245	N/A	INTRINSIC
low complexity region	313	331	N/A	INTRINSIC
SCOP:d1lsha3	385	459	5e-3	SMART
low complexity region	523	547	N/A	INTRINSIC
low complexity region	571	589	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	734	753	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175351

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	C	T	10: 88,948,661 (GRCm39)	E150K	probably damaging	Het
Blnk	T	C	19: 40,950,899 (GRCm39)	Y84C	probably damaging	Het
Brinp3	G	A	1: 146,777,740 (GRCm39)	R729H	probably damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Cd300c	A	T	11: 114,850,616 (GRCm39)	N62K	probably benign	Het
Chd3	T	C	11: 69,242,946 (GRCm39)	D1425G	probably damaging	Het
Ewsr1	C	A	11: 5,028,523 (GRCm39)		probably benign	Het
Gm4076	G	A	13: 85,275,357 (GRCm39)		noncoding transcript	Het
Gm9637	A	G	14: 19,401,978 (GRCm38)		noncoding transcript	Het
Greb1l	A	T	18: 10,547,288 (GRCm39)	N1502I	possibly damaging	Het
H13	A	G	2: 152,537,481 (GRCm39)	M309V	probably damaging	Het
Lmf2	A	G	15: 89,235,856 (GRCm39)	S683P	possibly damaging	Het
Lrit1	T	A	14: 36,779,394 (GRCm39)	L109Q	probably damaging	Het
Map3k14	C	A	11: 103,111,858 (GRCm39)	R941L	probably damaging	Het
Megf6	A	G	4: 154,337,006 (GRCm39)	K262E	probably damaging	Het
Mtnr1b	T	G	9: 15,774,102 (GRCm39)	Y319S	probably damaging	Het
Myh8	A	G	11: 67,188,090 (GRCm39)	K954R	probably damaging	Het
Myof	T	C	19: 37,911,473 (GRCm39)	D1486G	probably benign	Het
Nbea	A	G	3: 55,554,779 (GRCm39)	V2623A	probably benign	Het
Pak1	T	A	7: 97,554,018 (GRCm39)	Y463N	probably damaging	Het
Pex5l	T	A	3: 33,047,152 (GRCm39)		probably null	Het
Rasa4	T	C	5: 136,120,625 (GRCm39)	V87A	probably damaging	Het
Rnf112	G	A	11: 61,341,293 (GRCm39)	H431Y	possibly damaging	Het
Slc25a30	A	G	14: 76,007,651 (GRCm39)	V118A	probably benign	Het
Slc4a7	T	A	14: 14,773,277 (GRCm38)	I872K	probably damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Sycp1	T	C	3: 102,726,214 (GRCm39)	E970G	probably damaging	Het
Tex15	T	A	8: 34,064,935 (GRCm39)	L1455*	probably null	Het
Tgfb2	T	A	1: 186,436,752 (GRCm39)	T74S	probably damaging	Het
Vmn2r65	A	T	7: 84,613,094 (GRCm39)	C42S	probably damaging	Het
Zbtb12	T	A	17: 35,114,455 (GRCm39)	I80N	probably damaging	Het

Other mutations in Maml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Maml2	APN	9	13,532,900 (GRCm39)	unclassified	probably benign
IGL00424:Maml2	APN	9	13,532,208 (GRCm39)	missense	probably damaging	0.99
IGL02711:Maml2	APN	9	13,531,359 (GRCm39)	missense	probably benign	0.14
IGL03079:Maml2	APN	9	13,532,912 (GRCm39)	unclassified	probably benign
IGL03217:Maml2	APN	9	13,531,295 (GRCm39)	missense	probably damaging	1.00
FR4304:Maml2	UTSW	9	13,532,755 (GRCm39)	small deletion	probably benign
FR4449:Maml2	UTSW	9	13,532,752 (GRCm39)	small deletion	probably benign
PIT4810001:Maml2	UTSW	9	13,531,320 (GRCm39)	missense
R0102:Maml2	UTSW	9	13,617,228 (GRCm39)	synonymous	silent
R0318:Maml2	UTSW	9	13,531,890 (GRCm39)	missense	probably damaging	0.99
R0380:Maml2	UTSW	9	13,532,396 (GRCm39)	nonsense	probably null
R1433:Maml2	UTSW	9	13,617,797 (GRCm39)	missense	probably damaging	1.00
R1449:Maml2	UTSW	9	13,531,980 (GRCm39)	missense	possibly damaging	0.85
R1789:Maml2	UTSW	9	13,608,641 (GRCm39)	missense	probably damaging	1.00
R2173:Maml2	UTSW	9	13,532,912 (GRCm39)	unclassified	probably benign
R2363:Maml2	UTSW	9	13,532,541 (GRCm39)	missense	probably damaging	1.00
R2426:Maml2	UTSW	9	13,617,794 (GRCm39)	missense	probably damaging	1.00
R3981:Maml2	UTSW	9	13,532,364 (GRCm39)	missense	possibly damaging	0.80
R4094:Maml2	UTSW	9	13,531,449 (GRCm39)	missense	probably benign	0.22
R4117:Maml2	UTSW	9	13,617,230 (GRCm39)	missense	probably damaging	1.00
R4282:Maml2	UTSW	9	13,531,406 (GRCm39)	missense	possibly damaging	0.93
R4618:Maml2	UTSW	9	13,531,371 (GRCm39)	missense	probably damaging	1.00
R4921:Maml2	UTSW	9	13,532,471 (GRCm39)	missense	probably damaging	1.00
R4957:Maml2	UTSW	9	13,531,572 (GRCm39)	missense	probably damaging	1.00
R5195:Maml2	UTSW	9	13,532,410 (GRCm39)	missense	probably damaging	0.98
R5428:Maml2	UTSW	9	13,617,191 (GRCm39)	missense	probably benign	0.30
R5448:Maml2	UTSW	9	13,617,763 (GRCm39)	missense	probably damaging	0.98
R5450:Maml2	UTSW	9	13,617,763 (GRCm39)	missense	probably damaging	0.98
R5455:Maml2	UTSW	9	13,617,039 (GRCm39)	nonsense	probably null
R5620:Maml2	UTSW	9	13,608,616 (GRCm39)	missense	probably damaging	1.00
R5973:Maml2	UTSW	9	13,532,915 (GRCm39)	unclassified	probably benign
R6009:Maml2	UTSW	9	13,532,294 (GRCm39)	missense	probably benign	0.02
R6054:Maml2	UTSW	9	13,532,695 (GRCm39)	small deletion	probably benign
R6257:Maml2	UTSW	9	13,531,722 (GRCm39)	missense	probably damaging	1.00
R6727:Maml2	UTSW	9	13,532,847 (GRCm39)	unclassified	probably benign
R6824:Maml2	UTSW	9	13,608,513 (GRCm39)	missense	possibly damaging	0.67
R6854:Maml2	UTSW	9	13,617,131 (GRCm39)	missense	possibly damaging	0.59
R6998:Maml2	UTSW	9	13,532,481 (GRCm39)	unclassified	probably benign
R7047:Maml2	UTSW	9	13,532,177 (GRCm39)	unclassified	probably benign
R7233:Maml2	UTSW	9	13,532,067 (GRCm39)	missense
R7326:Maml2	UTSW	9	13,532,903 (GRCm39)	missense
R7612:Maml2	UTSW	9	13,617,781 (GRCm39)	missense	probably benign	0.04
R7652:Maml2	UTSW	9	13,532,945 (GRCm39)	missense
R7699:Maml2	UTSW	9	13,532,385 (GRCm39)	missense
R7700:Maml2	UTSW	9	13,532,385 (GRCm39)	missense
R7803:Maml2	UTSW	9	13,532,572 (GRCm39)	small insertion	probably benign
R7803:Maml2	UTSW	9	13,532,571 (GRCm39)	small insertion	probably benign
R7803:Maml2	UTSW	9	13,532,550 (GRCm39)	small insertion	probably benign
R8425:Maml2	UTSW	9	13,531,413 (GRCm39)	missense
R8810:Maml2	UTSW	9	13,532,918 (GRCm39)	missense
R9277:Maml2	UTSW	9	13,531,872 (GRCm39)	missense
R9359:Maml2	UTSW	9	13,532,969 (GRCm39)	nonsense	probably null
R9403:Maml2	UTSW	9	13,532,969 (GRCm39)	nonsense	probably null
RF015:Maml2	UTSW	9	13,532,752 (GRCm39)	small deletion	probably benign
RF044:Maml2	UTSW	9	13,532,752 (GRCm39)	small deletion	probably benign
X0063:Maml2	UTSW	9	13,531,637 (GRCm39)	missense	probably benign	0.09
Z1177:Maml2	UTSW	9	13,617,886 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGATGGACCCTGAGCTACAG -3'
(R):5'- TGAGCATGGGATACTTCTTGCC -3'

Sequencing Primer
(F):5'- GGAACTGTTCAATGAACTAACCAAC -3'
(R):5'- GGATACTTCTTGCCAGCTTGACAG -3'

Posted On

2015-01-23