Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03217:Maml2'

413518

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 #

IGL03217

Quality Score

Status

Chromosome

Chromosomal Location

13298306-13620684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13531295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 170 (S170P)

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: S170P

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

SMART Domains

Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: S170P

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,258,430 (GRCm39)	I29T	probably damaging	Het
Adam2	G	A	14: 66,272,262 (GRCm39)	P640L	possibly damaging	Het
Ccl4	T	C	11: 83,553,504 (GRCm39)	S6P	unknown	Het
Cd300lf	T	A	11: 115,015,117 (GRCm39)	T151S	possibly damaging	Het
Elk4	A	G	1: 131,945,778 (GRCm39)	T219A	probably benign	Het
Eml1	G	T	12: 108,501,201 (GRCm39)	E680D	probably benign	Het
Gm9755	T	C	8: 67,967,035 (GRCm39)		noncoding transcript	Het
Hmcn1	A	T	1: 150,619,418 (GRCm39)	I1232N	possibly damaging	Het
Mettl16	T	A	11: 74,708,529 (GRCm39)	M536K	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nxf2	T	C	X: 133,856,281 (GRCm39)	I287V	probably benign	Het
Nyap2	A	G	1: 81,065,039 (GRCm39)	D17G	probably damaging	Het
Pde6b	T	C	5: 108,567,432 (GRCm39)	C270R	probably damaging	Het
Ptchd1	T	C	X: 154,356,955 (GRCm39)	D750G	probably damaging	Het
Rrn3	G	A	16: 13,626,875 (GRCm39)	E490K	possibly damaging	Het
Slc27a2	G	A	2: 126,428,172 (GRCm39)	G519D	possibly damaging	Het
Sox5	A	G	6: 143,853,223 (GRCm39)	S352P	probably damaging	Het
Spart	G	T	3: 55,035,912 (GRCm39)		probably benign	Het
Sult1e1	T	C	5: 87,737,947 (GRCm39)	T45A	possibly damaging	Het
Tat	G	A	8: 110,721,818 (GRCm39)	V242I	probably benign	Het
Zfp442	A	G	2: 150,251,714 (GRCm39)		probably benign	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
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

2016-08-02