Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Maml2'

544347

Institutional Source

Beutler Lab

Gene Symbol

Maml2

Ensembl Gene

ENSMUSG00000031925

Gene Name

mastermind like transcriptional coactivator 2

Synonyms

MMRRC Submission

045010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13297957-13709388 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 13621185 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

SMART Domains

Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: A565V

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,162,710	R620G	probably benign	Het
Adcy1	A	C	11: 7,079,026	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,770,915	R2*	probably null	Het
Akr1c21	A	G	13: 4,583,851	I306M	probably benign	Het
Alg9	T	A	9: 50,789,621	S230R	possibly damaging	Het
Armt1	T	A	10: 4,453,937	C341S	probably benign	Het
Aspg	T	A	12: 112,112,194	L29M	probably damaging	Het
Aspm	C	T	1: 139,469,472	T934I	probably damaging	Het
C1rl	T	C	6: 124,508,902	S411P	probably damaging	Het
Card14	A	G	11: 119,322,899	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,916,852	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,732,897	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,648,343	W546*	probably null	Het
Cyp8b1	T	C	9: 121,915,993	N91S	probably benign	Het
Dab2	G	T	15: 6,424,649	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,543,689	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,620,613	I164V	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Garem2	T	C	5: 30,114,170	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,145,492	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,457,589	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537	E973V	possibly damaging	Het
Itga3	T	C	11: 95,051,462	K972R	probably benign	Het
Klhl33	A	T	14: 50,893,021	F339I	probably benign	Het
Krt79	T	C	15: 101,937,872	M214V	probably benign	Het
Lgsn	A	T	1: 31,204,193	H452L	probably benign	Het
Limd2	C	T	11: 106,158,690	G124D	probably benign	Het
Luzp1	T	C	4: 136,543,444	S993P	probably damaging	Het
Mbtd1	A	T	11: 93,924,612	H342L	probably damaging	Het
Mfhas1	C	A	8: 35,591,356	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,818,714	F3399S	possibly damaging	Het
Napb	T	C	2: 148,700,425	Y205C	probably damaging	Het
Odf2	G	T	2: 29,912,617	A298S	probably benign	Het
Olfr1082	A	T	2: 86,594,144	M228K	probably damaging	Het
Olfr1193	A	T	2: 88,678,508	I218F	probably benign	Het
Olfr740	A	T	14: 50,453,433	Y127F	probably benign	Het
Pcsk5	T	C	19: 17,473,112	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pik3c2b	T	G	1: 133,102,372	I1457S	probably benign	Het
Pole2	T	C	12: 69,213,906	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,618,505	S992R	probably damaging	Het
Ryr2	G	T	13: 11,712,166	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,016,640	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,355,321	T49S	probably damaging	Het
Slc16a10	T	C	10: 40,056,503	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,752,438	T568K	probably benign	Het
Sptbn1	T	C	11: 30,100,633	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,179,290	Y15N	probably damaging	Het
Thyn1	T	C	9: 27,006,442	S160P	probably damaging	Het
Tshz1	A	T	18: 84,015,841	D147E	probably benign	Het
Vmn2r50	T	G	7: 10,037,757	R672S	probably benign	Het
Zfp663	A	T	2: 165,354,002	I99N	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
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
R9403: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'- CGGCCAATTACACGTACAAGG -3'
(R):5'- ATAAAGCATGGGTGGGTTGC -3'

Sequencing Primer
(F):5'- TTACACGTACAAGGCCAGC -3'
(R):5'- TGCTGAGCTGTCAATGAACC -3'

Posted On

2019-05-13