Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02690:Maml1'

303702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Maml1

Ensembl Gene

ENSMUSG00000050567

Gene Name

mastermind like transcriptional coactivator 1

Synonyms

D930008C07Rik, Mam-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02690

Quality Score

Status

Chromosome

Chromosomal Location

50255634-50292311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50258630 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 761 (L761P)

Ref Sequence

ENSEMBL: ENSMUSP00000059210 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000059458
AA Change: L761P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: L761P

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	C	17: 57,480,921	V896A	probably damaging	Het
Ahnak	C	A	19: 9,012,584	S3744*	probably null	Het
Aldh7a1	A	G	18: 56,528,355		probably benign	Het
Ankk1	T	A	9: 49,421,900	I95F	probably damaging	Het
Borcs8	C	A	8: 70,165,088	A32D	probably damaging	Het
Cdh1	T	A	8: 106,657,884	I328N	probably damaging	Het
Cebpz	C	T	17: 78,922,557	D856N	probably damaging	Het
Clip2	T	A	5: 134,510,159		probably benign	Het
Dock7	C	A	4: 98,969,635	V1451F	possibly damaging	Het
Edem3	T	G	1: 151,804,799	C558W	probably damaging	Het
Eif3f	T	C	7: 108,934,718	V96A	probably damaging	Het
Gen1	A	G	12: 11,241,575	S738P	probably damaging	Het
Gm12666	T	A	4: 92,191,011	D191V	probably damaging	Het
Gm8906	C	T	5: 11,505,261	Q66*	probably null	Het
Ipo8	A	T	6: 148,777,363	S912R	probably benign	Het
Kcp	G	T	6: 29,484,999		probably benign	Het
Lrrfip1	A	G	1: 91,053,661	T2A	probably damaging	Het
Lyst	A	G	13: 13,641,125	E1198G	possibly damaging	Het
Mon2	T	A	10: 123,009,627	E1392V	possibly damaging	Het
Nol12	A	G	15: 78,937,174	E78G	probably damaging	Het
Nov	A	G	15: 54,747,802	Y111C	probably damaging	Het
Olfr156	G	A	4: 43,821,190	T57M	possibly damaging	Het
Olfr181	G	A	16: 58,925,851	T240I	possibly damaging	Het
Papd7	T	A	13: 69,510,625	M364L	probably benign	Het
Rag2	A	T	2: 101,629,494	I50L	probably benign	Het
Rasgrf2	T	C	13: 92,030,765	N267D	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rsc1a1	A	T	4: 141,685,301	V100D	probably damaging	Het
Rtp1	T	C	16: 23,431,382	Y166H	probably damaging	Het
Scly	A	T	1: 91,305,325	T109S	probably benign	Het
Scn8a	A	T	15: 100,970,254	S327C	probably damaging	Het
Sgsm1	T	C	5: 113,286,767		probably benign	Het
Slc4a9	A	G	18: 36,531,987	Y463C	probably damaging	Het
Sptan1	A	G	2: 29,998,183	M936V	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tbx20	T	A	9: 24,773,737	N37Y	probably benign	Het
Tex14	C	T	11: 87,486,274	T148I	probably benign	Het
Ubxn7	A	G	16: 32,381,605	E371G	probably benign	Het
Ugt2b35	T	C	5: 87,001,237	F116L	probably benign	Het
Vmn2r111	C	T	17: 22,559,042		probably null	Het
Vmn2r26	T	C	6: 124,026,132	L167P	probably benign	Het
Vps13b	T	C	15: 35,917,142	W3711R	probably damaging	Het
Wdr5	A	T	2: 27,534,828	T326S	probably benign	Het

Other mutations in Maml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Maml1	APN	11	50258714	missense	probably damaging	0.97
IGL01326:Maml1	APN	11	50265888	missense	probably benign	0.30
IGL01469:Maml1	APN	11	50266526	missense	probably damaging	1.00
IGL02336:Maml1	APN	11	50258165	missense	probably benign	0.00
R0674:Maml1	UTSW	11	50258058	missense	probably benign	0.28
R1497:Maml1	UTSW	11	50265707	missense	possibly damaging	0.51
R1641:Maml1	UTSW	11	50266947	missense	probably benign	0.16
R1888:Maml1	UTSW	11	50266641	missense	probably benign	0.00
R1888:Maml1	UTSW	11	50266641	missense	probably benign	0.00
R1899:Maml1	UTSW	11	50266130	missense	probably damaging	1.00
R2496:Maml1	UTSW	11	50258544	missense	probably benign
R3913:Maml1	UTSW	11	50263432	missense	probably benign	0.00
R4018:Maml1	UTSW	11	50265784	missense	probably damaging	1.00
R4091:Maml1	UTSW	11	50291829	missense	probably benign	0.00
R4202:Maml1	UTSW	11	50257913	missense	probably damaging	1.00
R4205:Maml1	UTSW	11	50257913	missense	probably damaging	1.00
R4716:Maml1	UTSW	11	50257867	missense	probably benign	0.01
R4816:Maml1	UTSW	11	50258335	missense	possibly damaging	0.68
R5338:Maml1	UTSW	11	50266951	missense	probably benign	0.11
R5460:Maml1	UTSW	11	50266353	missense	probably benign	0.36
R6701:Maml1	UTSW	11	50266682	missense	probably damaging	1.00
R7336:Maml1	UTSW	11	50266449	missense	possibly damaging	0.77

Posted On

2015-04-16