Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00417:Maml2'

332368

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 #

IGL00417

Quality Score

Status

Chromosome

Chromosomal Location

13297957-13709388 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 13621604 bp (GRCm38)

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 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

unknown
Transcript: ENSMUST00000159294
AA Change: I705F

SMART Domains

Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: I705F

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,423,759 (GRCm38)	I39M	probably benign	Het
Acoxl	G	A	2: 127,978,804 (GRCm38)	C92Y	probably damaging	Het
Actl6b	G	T	5: 137,554,637 (GRCm38)	R76L	probably damaging	Het
Afg2a	A	G	3: 37,451,802 (GRCm38)	I677V	possibly damaging	Het
Ank	T	C	15: 27,544,351 (GRCm38)	M66T	possibly damaging	Het
C6	C	T	15: 4,759,967 (GRCm38)	A298V	possibly damaging	Het
Clip4	A	T	17: 71,849,942 (GRCm38)	N591Y	probably damaging	Het
Cntnap5b	T	C	1: 100,050,754 (GRCm38)	I165T	probably damaging	Het
Dennd1b	G	A	1: 139,062,940 (GRCm38)	R214H	probably damaging	Het
Eri2	G	A	7: 119,787,741 (GRCm38)	T185I	probably benign	Het
Fbxo33	A	G	12: 59,202,670 (GRCm38)	V476A	probably damaging	Het
Fer1l4	G	A	2: 156,019,920 (GRCm38)	R1826*	probably null	Het
Fyb1	A	T	15: 6,580,777 (GRCm38)	K277I	probably damaging	Het
Gli3	C	A	13: 15,644,299 (GRCm38)	H229N	probably damaging	Het
Hmcn1	T	C	1: 150,677,278 (GRCm38)	I2554V	probably benign	Het
Map4k4	T	C	1: 40,014,532 (GRCm38)	F930L	possibly damaging	Het
Mmadhc	T	C	2: 50,289,031 (GRCm38)	D125G	probably benign	Het
Nipbl	A	G	15: 8,366,673 (GRCm38)	S139P	probably damaging	Het
Obscn	A	G	11: 59,006,788 (GRCm38)	L6647P	unknown	Het
Ppara	C	A	15: 85,801,067 (GRCm38)	H406N	probably benign	Het
Psg27	T	A	7: 18,561,917 (GRCm38)	H201L	probably benign	Het
Qser1	A	T	2: 104,786,903 (GRCm38)	I1188N	probably damaging	Het
Rc3h1	T	C	1: 160,955,981 (GRCm38)		probably null	Het
Septin2	C	T	1: 93,499,142 (GRCm38)	H158Y	probably damaging	Het
Snx9	C	A	17: 5,891,897 (GRCm38)	Q100K	probably benign	Het
Thnsl2	G	A	6: 71,131,900 (GRCm38)	T309I	probably damaging	Het
Thsd7b	A	G	1: 129,595,834 (GRCm38)	R125G	probably damaging	Het
Tmem62	T	G	2: 121,006,964 (GRCm38)		probably null	Het
Tnpo3	A	T	6: 29,578,461 (GRCm38)		probably null	Het
Trpc6	A	T	9: 8,680,438 (GRCm38)	D889V	probably damaging	Het
Tubgcp6	C	A	15: 89,104,008 (GRCm38)	V913L	probably benign	Het
Uox	A	T	3: 146,627,810 (GRCm38)	M255L	probably benign	Het

Other mutations in Maml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Maml2	APN	9	13,620,912 (GRCm38)	missense	probably damaging	0.99
IGL02711:Maml2	APN	9	13,620,063 (GRCm38)	missense	probably benign	0.14
IGL03079:Maml2	APN	9	13,621,616 (GRCm38)	unclassified	probably benign
IGL03217:Maml2	APN	9	13,619,999 (GRCm38)	missense	probably damaging	1.00
FR4304:Maml2	UTSW	9	13,621,459 (GRCm38)	small deletion	probably benign
FR4449:Maml2	UTSW	9	13,621,456 (GRCm38)	small deletion	probably benign
PIT4810001:Maml2	UTSW	9	13,620,024 (GRCm38)	missense
R0102:Maml2	UTSW	9	13,705,932 (GRCm38)	synonymous	silent
R0318:Maml2	UTSW	9	13,620,594 (GRCm38)	missense	probably damaging	0.99
R0380:Maml2	UTSW	9	13,621,100 (GRCm38)	nonsense	probably null
R1433:Maml2	UTSW	9	13,706,501 (GRCm38)	missense	probably damaging	1.00
R1449:Maml2	UTSW	9	13,620,684 (GRCm38)	missense	possibly damaging	0.85
R1789:Maml2	UTSW	9	13,697,345 (GRCm38)	missense	probably damaging	1.00
R2173:Maml2	UTSW	9	13,621,616 (GRCm38)	unclassified	probably benign
R2363:Maml2	UTSW	9	13,621,245 (GRCm38)	missense	probably damaging	1.00
R2426:Maml2	UTSW	9	13,706,498 (GRCm38)	missense	probably damaging	1.00
R2880:Maml2	UTSW	9	13,620,597 (GRCm38)	splice site	probably null
R3981:Maml2	UTSW	9	13,621,068 (GRCm38)	missense	possibly damaging	0.80
R4094:Maml2	UTSW	9	13,620,153 (GRCm38)	missense	probably benign	0.22
R4117:Maml2	UTSW	9	13,705,934 (GRCm38)	missense	probably damaging	1.00
R4282:Maml2	UTSW	9	13,620,110 (GRCm38)	missense	possibly damaging	0.93
R4618:Maml2	UTSW	9	13,620,075 (GRCm38)	missense	probably damaging	1.00
R4921:Maml2	UTSW	9	13,621,175 (GRCm38)	missense	probably damaging	1.00
R4957:Maml2	UTSW	9	13,620,276 (GRCm38)	missense	probably damaging	1.00
R5195:Maml2	UTSW	9	13,621,114 (GRCm38)	missense	probably damaging	0.98
R5428:Maml2	UTSW	9	13,705,895 (GRCm38)	missense	probably benign	0.30
R5448:Maml2	UTSW	9	13,706,467 (GRCm38)	missense	probably damaging	0.98
R5450:Maml2	UTSW	9	13,706,467 (GRCm38)	missense	probably damaging	0.98
R5455:Maml2	UTSW	9	13,705,743 (GRCm38)	nonsense	probably null
R5620:Maml2	UTSW	9	13,697,320 (GRCm38)	missense	probably damaging	1.00
R5973:Maml2	UTSW	9	13,621,619 (GRCm38)	unclassified	probably benign
R6009:Maml2	UTSW	9	13,620,998 (GRCm38)	missense	probably benign	0.02
R6054:Maml2	UTSW	9	13,621,399 (GRCm38)	small deletion	probably benign
R6257:Maml2	UTSW	9	13,620,426 (GRCm38)	missense	probably damaging	1.00
R6727:Maml2	UTSW	9	13,621,551 (GRCm38)	unclassified	probably benign
R6824:Maml2	UTSW	9	13,697,217 (GRCm38)	missense	possibly damaging	0.67
R6854:Maml2	UTSW	9	13,705,835 (GRCm38)	missense	possibly damaging	0.59
R6998:Maml2	UTSW	9	13,621,185 (GRCm38)	unclassified	probably benign
R7047:Maml2	UTSW	9	13,620,881 (GRCm38)	unclassified	probably benign
R7233:Maml2	UTSW	9	13,620,771 (GRCm38)	missense
R7326:Maml2	UTSW	9	13,621,607 (GRCm38)	missense
R7612:Maml2	UTSW	9	13,706,485 (GRCm38)	missense	probably benign	0.04
R7652:Maml2	UTSW	9	13,621,649 (GRCm38)	missense
R7699:Maml2	UTSW	9	13,621,089 (GRCm38)	missense
R7700:Maml2	UTSW	9	13,621,089 (GRCm38)	missense
R7803:Maml2	UTSW	9	13,621,276 (GRCm38)	small insertion	probably benign
R7803:Maml2	UTSW	9	13,621,275 (GRCm38)	small insertion	probably benign
R7803:Maml2	UTSW	9	13,621,254 (GRCm38)	small insertion	probably benign
R8425:Maml2	UTSW	9	13,620,117 (GRCm38)	missense
R8810:Maml2	UTSW	9	13,621,622 (GRCm38)	missense
R9277:Maml2	UTSW	9	13,620,576 (GRCm38)	missense
R9359:Maml2	UTSW	9	13,621,673 (GRCm38)	nonsense	probably null
R9403:Maml2	UTSW	9	13,621,673 (GRCm38)	nonsense	probably null
RF015:Maml2	UTSW	9	13,621,456 (GRCm38)	small deletion	probably benign
RF044:Maml2	UTSW	9	13,621,456 (GRCm38)	small deletion	probably benign
X0063:Maml2	UTSW	9	13,620,341 (GRCm38)	missense	probably benign	0.09
Z1177:Maml2	UTSW	9	13,706,590 (GRCm38)	nonsense	probably null

Posted On

2015-08-05