Mutagenetix > Incidental Mutation

Incidental Mutation 'R2496:Maml1'

251204

Institutional Source

Beutler Lab

Gene Symbol

Maml1

Ensembl Gene

ENSMUSG00000050567

Gene Name

mastermind like transcriptional coactivator 1

Synonyms

Mam-1, D930008C07Rik

MMRRC Submission

040410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50146461-50183138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50149371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 790 (T790A)

Ref Sequence

ENSEMBL: ENSMUSP00000059210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059458]

AlphaFold

Q6T264

Predicted Effect

probably benign
Transcript: ENSMUST00000059458
AA Change: T790A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: T790A

Domain	Start	End	E-Value	Type
MamL-1	14	73	1.04e-32	SMART
low complexity region	77	102	N/A	INTRINSIC
low complexity region	280	291	N/A	INTRINSIC
low complexity region	373	383	N/A	INTRINSIC
low complexity region	419	435	N/A	INTRINSIC
low complexity region	588	600	N/A	INTRINSIC
coiled coil region	627	671	N/A	INTRINSIC
low complexity region	911	930	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135868

SMART Domains

Protein: ENSMUSP00000118188
Gene: ENSMUSG00000050567

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
low complexity region	288	298	N/A	INTRINSIC
low complexity region	334	350	N/A	INTRINSIC
low complexity region	503	515	N/A	INTRINSIC
coiled coil region	541	565	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222498

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality, reduced size, and skeletal muscle degeneration and necrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,761,065 (GRCm39)	W1926R	probably damaging	Het
Arhgef25	T	C	10: 127,023,063 (GRCm39)	T106A	probably benign	Het
Baz1b	G	A	5: 135,239,629 (GRCm39)	R243Q	probably damaging	Het
Cdhr3	A	G	12: 33,099,068 (GRCm39)	Y508H	probably benign	Het
Cyp2d9	T	A	15: 82,336,680 (GRCm39)	W10R	probably damaging	Het
Dmxl1	A	G	18: 50,013,858 (GRCm39)	T1549A	possibly damaging	Het
Dnah8	A	T	17: 31,070,705 (GRCm39)	R4464W	probably damaging	Het
Dpp4	G	A	2: 62,217,477 (GRCm39)	T40M	possibly damaging	Het
Dync1h1	A	G	12: 110,607,654 (GRCm39)	H2723R	possibly damaging	Het
E2f3	C	T	13: 30,095,289 (GRCm39)	S333N	probably damaging	Het
Fam120a	G	T	13: 49,121,069 (GRCm39)	A79E	probably damaging	Het
Fat3	A	G	9: 15,877,399 (GRCm39)	S3405P	probably benign	Het
Gaa	T	C	11: 119,174,531 (GRCm39)	S793P	possibly damaging	Het
Galc	A	C	12: 98,193,540 (GRCm39)	F350V	probably damaging	Het
Garre1	A	G	7: 33,955,916 (GRCm39)	V391A	possibly damaging	Het
Gm136	A	G	4: 34,746,541 (GRCm39)	C157R	probably damaging	Het
Gm3327	A	C	14: 44,363,720 (GRCm39)	N108T	unknown	Het
H2-M10.2	A	G	17: 36,596,771 (GRCm39)	Y102H	possibly damaging	Het
Hmcn1	A	T	1: 150,490,972 (GRCm39)	D4192E	probably benign	Het
Hpse2	A	C	19: 43,001,482 (GRCm39)		probably null	Het
Idh3a	T	C	9: 54,510,633 (GRCm39)	V362A	probably benign	Het
Kdm7a	A	T	6: 39,147,697 (GRCm39)		probably null	Het
Krt6b	A	G	15: 101,588,216 (GRCm39)	V148A	probably damaging	Het
Lrba	G	A	3: 86,439,394 (GRCm39)	R1977H	probably damaging	Het
Magi2	A	T	5: 19,883,750 (GRCm39)	Y134F	probably benign	Het
Mamdc4	T	C	2: 25,455,914 (GRCm39)	Y801C	probably damaging	Het
Map3k19	A	G	1: 127,750,823 (GRCm39)	Y843H	probably damaging	Het
Mdfic	A	T	6: 15,741,041 (GRCm39)	H45L	possibly damaging	Het
Mlx	C	T	11: 100,979,080 (GRCm39)	T87I	probably benign	Het
Mms22l	T	A	4: 24,521,269 (GRCm39)	I382K	probably benign	Het
Mtf1	A	G	4: 124,732,697 (GRCm39)	N585S	probably benign	Het
Mylk2	C	T	2: 152,755,588 (GRCm39)	P251S	probably damaging	Het
Myorg	A	G	4: 41,499,165 (GRCm39)	V155A	probably benign	Het
Nox4	A	T	7: 86,955,958 (GRCm39)	T157S	probably benign	Het
Oas2	A	T	5: 120,886,682 (GRCm39)	H161Q	probably benign	Het
Obscn	A	T	11: 58,994,268 (GRCm39)	V1563E	probably damaging	Het
Or2n1b	T	C	17: 38,460,322 (GRCm39)	V281A	possibly damaging	Het
Or55b3	T	C	7: 102,126,354 (GRCm39)	K241R	probably damaging	Het
Or6c203	A	C	10: 129,009,966 (GRCm39)	F308C	probably benign	Het
Pcdhb11	T	A	18: 37,555,375 (GRCm39)	I235N	probably benign	Het
Pcsk5	A	T	19: 17,443,522 (GRCm39)	C1212*	probably null	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rsph4a	A	T	10: 33,784,094 (GRCm39)	I239L	possibly damaging	Het
Setx	A	G	2: 29,034,813 (GRCm39)	I433V	probably benign	Het
Smyd4	T	C	11: 75,281,927 (GRCm39)	S467P	probably benign	Het
Snai2	A	T	16: 14,523,866 (GRCm39)	H10L	possibly damaging	Het
Snw1	T	C	12: 87,497,589 (GRCm39)	I467V	probably benign	Het
Stab1	A	T	14: 30,883,420 (GRCm39)	C301S	probably damaging	Het
Tax1bp1	T	A	6: 52,735,342 (GRCm39)		probably null	Het
Tmem70	C	A	1: 16,735,575 (GRCm39)	P15Q	probably benign	Het
Tmem87a	T	C	2: 120,224,859 (GRCm39)	E134G	probably damaging	Het
Ubr4	C	T	4: 139,200,516 (GRCm39)		probably benign	Het
Ugt2b37	C	T	5: 87,402,569 (GRCm39)	V21M	probably damaging	Het
Ugt2b38	T	A	5: 87,569,551 (GRCm39)	I259F	probably damaging	Het
Zfp804a	T	A	2: 82,066,188 (GRCm39)	L53Q	probably damaging	Het

Other mutations in Maml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Maml1	APN	11	50,149,541 (GRCm39)	missense	probably damaging	0.97
IGL01326:Maml1	APN	11	50,156,715 (GRCm39)	missense	probably benign	0.30
IGL01469:Maml1	APN	11	50,157,353 (GRCm39)	missense	probably damaging	1.00
IGL02336:Maml1	APN	11	50,148,992 (GRCm39)	missense	probably benign	0.00
IGL02690:Maml1	APN	11	50,149,457 (GRCm39)	missense	probably damaging	1.00
R0674:Maml1	UTSW	11	50,148,885 (GRCm39)	missense	probably benign	0.28
R1497:Maml1	UTSW	11	50,156,534 (GRCm39)	missense	possibly damaging	0.51
R1641:Maml1	UTSW	11	50,157,774 (GRCm39)	missense	probably benign	0.16
R1888:Maml1	UTSW	11	50,157,468 (GRCm39)	missense	probably benign	0.00
R1888:Maml1	UTSW	11	50,157,468 (GRCm39)	missense	probably benign	0.00
R1899:Maml1	UTSW	11	50,156,957 (GRCm39)	missense	probably damaging	1.00
R3913:Maml1	UTSW	11	50,154,259 (GRCm39)	missense	probably benign	0.00
R4018:Maml1	UTSW	11	50,156,611 (GRCm39)	missense	probably damaging	1.00
R4091:Maml1	UTSW	11	50,182,656 (GRCm39)	missense	probably benign	0.00
R4202:Maml1	UTSW	11	50,148,740 (GRCm39)	missense	probably damaging	1.00
R4205:Maml1	UTSW	11	50,148,740 (GRCm39)	missense	probably damaging	1.00
R4716:Maml1	UTSW	11	50,148,694 (GRCm39)	missense	probably benign	0.01
R4816:Maml1	UTSW	11	50,149,162 (GRCm39)	missense	possibly damaging	0.68
R5338:Maml1	UTSW	11	50,157,778 (GRCm39)	missense	probably benign	0.11
R5460:Maml1	UTSW	11	50,157,180 (GRCm39)	missense	probably benign	0.36
R6701:Maml1	UTSW	11	50,157,509 (GRCm39)	missense	probably damaging	1.00
R7336:Maml1	UTSW	11	50,157,276 (GRCm39)	missense	possibly damaging	0.77
R8736:Maml1	UTSW	11	50,148,726 (GRCm39)	missense	possibly damaging	0.94
R8987:Maml1	UTSW	11	50,157,575 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGCATTCCCTGATGCTGC -3'
(R):5'- TGAACAACTTGGGTCCGTC -3'

Sequencing Primer
(F):5'- ATTCCCTGATGCTGCCACGAG -3'
(R):5'- TCAGCCTGGGACTCTGATGTC -3'

Posted On

2014-12-04