Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00424:Maml2'

332382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Maml2

Ensembl Gene

ENSMUSG00000031925

Gene Name

mastermind like transcriptional coactivator 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00424

Quality Score

Status

Chromosome

Chromosomal Location

13298306-13620684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13532208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 474 (V474E)

Ref Sequence

ENSEMBL: ENSMUSP00000124083 (fasta)

Gene Model

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

AlphaFold

F6U238

Predicted Effect

probably benign
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: V474E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: V474E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,988,260 (GRCm39)	E108G	probably benign	Het
Afap1l2	A	G	19: 56,990,740 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,715,607 (GRCm39)		probably null	Het
Bpifb1	A	G	2: 154,059,087 (GRCm39)		probably benign	Het
Cux2	G	A	5: 122,006,601 (GRCm39)	R890W	possibly damaging	Het
Fancb	A	C	X: 163,766,334 (GRCm39)	Q272P	probably damaging	Het
Fmnl1	G	A	11: 103,088,166 (GRCm39)	W1008*	probably null	Het
Gfra2	T	A	14: 71,205,679 (GRCm39)		probably benign	Het
Gjd2	A	G	2: 113,842,258 (GRCm39)	I73T	probably damaging	Het
Itgae	T	C	11: 73,036,461 (GRCm39)	I1133T	probably benign	Het
Kcnh1	T	A	1: 192,101,190 (GRCm39)	V594E	probably damaging	Het
Mysm1	G	A	4: 94,861,146 (GRCm39)		probably benign	Het
Ntrk3	C	T	7: 77,900,621 (GRCm39)	A573T	probably benign	Het
Pi4kb	A	G	3: 94,911,574 (GRCm39)	D348G	probably damaging	Het
Prol1	A	G	5: 88,475,718 (GRCm39)	Y36C	probably benign	Het
Rfx6	T	A	10: 51,557,982 (GRCm39)	C152S	probably damaging	Het
Rpp14	G	A	14: 8,083,934 (GRCm38)	G30E	possibly damaging	Het
Tnxb	T	G	17: 34,933,666 (GRCm39)	F2362C	probably damaging	Het
Tpr	T	A	1: 150,274,346 (GRCm39)		probably benign	Het
Trf	G	A	9: 103,104,135 (GRCm39)	A76V	probably damaging	Het
Tubgcp3	C	T	8: 12,671,809 (GRCm39)	R811H	probably benign	Het
Zfp820	A	T	17: 22,038,292 (GRCm39)	H345Q	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
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
R2880:Maml2	UTSW	9	13,531,893 (GRCm39)	splice site	probably null
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

Posted On

2015-08-05