Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Maml2'

711351

Institutional Source

Beutler Lab

Gene Symbol

Maml2

Ensembl Gene

ENSMUSG00000031925

Gene Name

mastermind like transcriptional coactivator 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13297957-13709388 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 13621673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 728 (Q728*)

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 null
Transcript: ENSMUST00000159294
AA Change: Q728*

SMART Domains

Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: Q728*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090	V8A		Het
Fbn2	T	C	18: 58,066,107	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793	R453Q	probably benign	Het
Gm5591	T	A	7: 38,520,148	M434L	probably benign	Het
Gm5591	T	C	7: 38,522,256	T130A	probably damaging	Het
Gpld1	G	A	13: 24,979,729	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177	V284A		Het
Mkln1	T	C	6: 31,432,970	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204		probably null	Het
Muc16	A	G	9: 18,537,764		probably null	Het
Mylk	C	A	16: 34,875,642	S249*	probably null	Het
Naa35	G	A	13: 59,601,003	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532	I26V	probably benign	Het
Polq	T	C	16: 37,061,853	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258	S348P		Het
Qsox1	A	G	1: 155,782,597	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042	H22N	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575		probably benign	Het
Slc2a3	A	C	6: 122,736,610	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259	F313S	possibly damaging	Het

Other mutations in Maml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Maml2	APN	9	13621604	unclassified	probably benign
IGL00424:Maml2	APN	9	13620912	missense	probably damaging	0.99
IGL02711:Maml2	APN	9	13620063	missense	probably benign	0.14
IGL03079:Maml2	APN	9	13621616	unclassified	probably benign
IGL03217:Maml2	APN	9	13619999	missense	probably damaging	1.00
FR4304:Maml2	UTSW	9	13621459	small deletion	probably benign
FR4449:Maml2	UTSW	9	13621456	small deletion	probably benign
PIT4810001:Maml2	UTSW	9	13620024	missense
R0102:Maml2	UTSW	9	13705932	synonymous	silent
R0318:Maml2	UTSW	9	13620594	missense	probably damaging	0.99
R0380:Maml2	UTSW	9	13621100	nonsense	probably null
R1433:Maml2	UTSW	9	13706501	missense	probably damaging	1.00
R1449:Maml2	UTSW	9	13620684	missense	possibly damaging	0.85
R1789:Maml2	UTSW	9	13697345	missense	probably damaging	1.00
R2173:Maml2	UTSW	9	13621616	unclassified	probably benign
R2363:Maml2	UTSW	9	13621245	missense	probably damaging	1.00
R2426:Maml2	UTSW	9	13706498	missense	probably damaging	1.00
R2880:Maml2	UTSW	9	13620597	splice site	probably null
R3981:Maml2	UTSW	9	13621068	missense	possibly damaging	0.80
R4094:Maml2	UTSW	9	13620153	missense	probably benign	0.22
R4117:Maml2	UTSW	9	13705934	missense	probably damaging	1.00
R4282:Maml2	UTSW	9	13620110	missense	possibly damaging	0.93
R4618:Maml2	UTSW	9	13620075	missense	probably damaging	1.00
R4921:Maml2	UTSW	9	13621175	missense	probably damaging	1.00
R4957:Maml2	UTSW	9	13620276	missense	probably damaging	1.00
R5195:Maml2	UTSW	9	13621114	missense	probably damaging	0.98
R5428:Maml2	UTSW	9	13705895	missense	probably benign	0.30
R5448:Maml2	UTSW	9	13706467	missense	probably damaging	0.98
R5450:Maml2	UTSW	9	13706467	missense	probably damaging	0.98
R5455:Maml2	UTSW	9	13705743	nonsense	probably null
R5620:Maml2	UTSW	9	13697320	missense	probably damaging	1.00
R5973:Maml2	UTSW	9	13621619	unclassified	probably benign
R6009:Maml2	UTSW	9	13620998	missense	probably benign	0.02
R6054:Maml2	UTSW	9	13621399	small deletion	probably benign
R6257:Maml2	UTSW	9	13620426	missense	probably damaging	1.00
R6727:Maml2	UTSW	9	13621551	unclassified	probably benign
R6824:Maml2	UTSW	9	13697217	missense	possibly damaging	0.67
R6854:Maml2	UTSW	9	13705835	missense	possibly damaging	0.59
R6998:Maml2	UTSW	9	13621185	unclassified	probably benign
R7047:Maml2	UTSW	9	13620881	unclassified	probably benign
R7233:Maml2	UTSW	9	13620771	missense
R7326:Maml2	UTSW	9	13621607	missense
R7612:Maml2	UTSW	9	13706485	missense	probably benign	0.04
R7652:Maml2	UTSW	9	13621649	missense
R7699:Maml2	UTSW	9	13621089	missense
R7700:Maml2	UTSW	9	13621089	missense
R7803:Maml2	UTSW	9	13621254	small insertion	probably benign
R7803:Maml2	UTSW	9	13621275	small insertion	probably benign
R7803:Maml2	UTSW	9	13621276	small insertion	probably benign
R8425:Maml2	UTSW	9	13620117	missense
R8810:Maml2	UTSW	9	13621622	missense
R9277:Maml2	UTSW	9	13620576	missense
R9359:Maml2	UTSW	9	13621673	nonsense	probably null
RF015:Maml2	UTSW	9	13621456	small deletion	probably benign
RF044:Maml2	UTSW	9	13621456	small deletion	probably benign
X0063:Maml2	UTSW	9	13620341	missense	probably benign	0.09
Z1177:Maml2	UTSW	9	13706590	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTTGCCTTCCCAGAGCAAAC -3'
(R):5'- TCACTGATCATTACAGATCCCC -3'

Sequencing Primer
(F):5'- AGGTTCATTGACAGCTCAGC -3'
(R):5'- TGATCATTACAGATCCCCCAAGC -3'

Posted On

2022-05-16