Mutagenetix > Incidental Mutation

Incidental Mutation 'R4117:Maml2'

315138

Institutional Source

Beutler Lab

Gene Symbol

Maml2

Ensembl Gene

ENSMUSG00000031925

Gene Name

mastermind like transcriptional coactivator 2

Synonyms

MMRRC Submission

040991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4117 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13298306-13620684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13617230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 192 (Q192R)

Ref Sequence

ENSEMBL: ENSMUSP00000136866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034401] [ENSMUST00000159294] [ENSMUST00000177755]

AlphaFold

F6U238

Predicted Effect

probably damaging
Transcript: ENSMUST00000034401
AA Change: Q192R

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

SMART Domains

Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925
AA Change: Q192R

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: Q948R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: Q948R

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: ENSMUST00000161245

Predicted Effect

probably damaging
Transcript: ENSMUST00000177755
AA Change: Q192R

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

SMART Domains

Protein: ENSMUSP00000136866
Gene: ENSMUSG00000031925
AA Change: Q192R

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

Meta Mutation Damage Score

0.1025

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,398,313 (GRCm39)	F358L	probably damaging	Het
Adamts16	A	G	13: 70,916,111 (GRCm39)	Y775H	probably benign	Het
Bard1	A	T	1: 71,085,922 (GRCm39)	H594Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cenpt	G	A	8: 106,576,332 (GRCm39)	S73L	probably benign	Het
Ctdnep1	C	A	11: 69,879,497 (GRCm39)	A7D	probably damaging	Het
Fam210b	T	C	2: 172,193,486 (GRCm39)	S100P	probably benign	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
H2-T15	T	C	17: 36,368,496 (GRCm39)	D144G	probably damaging	Het
Heph	T	C	X: 95,544,221 (GRCm39)	V615A	probably benign	Het
Icam5	T	A	9: 20,948,886 (GRCm39)	V746E	probably damaging	Het
Npas4	T	C	19: 5,037,391 (GRCm39)	Y301C	probably damaging	Het
Nup205	C	T	6: 35,217,947 (GRCm39)	Q1767*	probably null	Het
Or51f5	T	A	7: 102,423,684 (GRCm39)		probably null	Het
Pigg	A	G	5: 108,495,908 (GRCm39)	R982G	probably benign	Het
Plekhg2	A	T	7: 28,060,313 (GRCm39)	H1005Q	probably benign	Het
Rdh12	C	T	12: 79,260,419 (GRCm39)	R172C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Semp2l2b	T	A	10: 21,943,615 (GRCm39)	N122Y	probably benign	Het
Septin4	T	C	11: 87,459,108 (GRCm39)	F494S	probably damaging	Het
Serpinb9	T	A	13: 33,199,579 (GRCm39)	D291E	probably benign	Het
She	A	T	3: 89,759,679 (GRCm39)	Y394F	probably damaging	Het
Sipa1l2	T	C	8: 126,195,249 (GRCm39)	S830G	probably damaging	Het
Stmn4	T	C	14: 66,598,581 (GRCm39)	*217Q	probably null	Het
Stx17	A	G	4: 48,180,689 (GRCm39)	D178G	probably damaging	Het
Tbc1d9	T	G	8: 83,992,776 (GRCm39)	I960S	possibly damaging	Het
Ubxn10	G	T	4: 138,448,276 (GRCm39)	D133E	probably benign	Het
Vmn2r42	T	C	7: 8,197,839 (GRCm39)	Y260C	probably damaging	Het
Vmn2r7	A	C	3: 64,623,138 (GRCm39)		probably benign	Het
Zfp143	C	T	7: 109,691,120 (GRCm39)	T557I	probably damaging	Het
Zfp607b	A	G	7: 27,398,107 (GRCm39)	I64V	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
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
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'- GGAAACCTGCCTTGTAACCAG -3'
(R):5'- CTCCTGGTTGCAAAGACTGG -3'

Sequencing Primer
(F):5'- TTGTAACCAGCCTGGCAC -3'
(R):5'- CAAAGACTGGTTTGGGGTATAGGC -3'

Posted On

2015-05-14