Mutagenetix > Incidental Mutation

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

Mam-1, D930008C07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02690

Quality Score

Status

Chromosome

Chromosomal Location

50146461-50183138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50149457 bp (GRCm39)

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]

AlphaFold

Q6T264

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: 57,787,921 (GRCm39)	V896A	probably damaging	Het
Ahnak	C	A	19: 8,989,948 (GRCm39)	S3744*	probably null	Het
Aldh7a1	A	G	18: 56,661,427 (GRCm39)		probably benign	Het
Ankk1	T	A	9: 49,333,200 (GRCm39)	I95F	probably damaging	Het
Borcs8	C	A	8: 70,617,738 (GRCm39)	A32D	probably damaging	Het
Ccn3	A	G	15: 54,611,198 (GRCm39)	Y111C	probably damaging	Het
Cdh1	T	A	8: 107,384,516 (GRCm39)	I328N	probably damaging	Het
Cebpz	C	T	17: 79,229,986 (GRCm39)	D856N	probably damaging	Het
Clip2	T	A	5: 134,539,013 (GRCm39)		probably benign	Het
Dock7	C	A	4: 98,857,872 (GRCm39)	V1451F	possibly damaging	Het
Edem3	T	G	1: 151,680,550 (GRCm39)	C558W	probably damaging	Het
Eif3f	T	C	7: 108,533,925 (GRCm39)	V96A	probably damaging	Het
Gen1	A	G	12: 11,291,576 (GRCm39)	S738P	probably damaging	Het
Ipo8	A	T	6: 148,678,861 (GRCm39)	S912R	probably benign	Het
Kcp	G	T	6: 29,484,998 (GRCm39)		probably benign	Het
Larp7-ps	T	A	4: 92,079,248 (GRCm39)	D191V	probably damaging	Het
Lrrfip1	A	G	1: 90,981,383 (GRCm39)	T2A	probably damaging	Het
Lyst	A	G	13: 13,815,710 (GRCm39)	E1198G	possibly damaging	Het
Mon2	T	A	10: 122,845,532 (GRCm39)	E1392V	possibly damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Or13c7b	G	A	4: 43,821,190 (GRCm39)	T57M	possibly damaging	Het
Or5k17	G	A	16: 58,746,214 (GRCm39)	T240I	possibly damaging	Het
Rag2	A	T	2: 101,459,839 (GRCm39)	I50L	probably benign	Het
Rasgrf2	T	C	13: 92,167,273 (GRCm39)	N267D	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rsc1a1	A	T	4: 141,412,612 (GRCm39)	V100D	probably damaging	Het
Rtp1	T	C	16: 23,250,132 (GRCm39)	Y166H	probably damaging	Het
Scly	A	T	1: 91,233,047 (GRCm39)	T109S	probably benign	Het
Scn8a	A	T	15: 100,868,135 (GRCm39)	S327C	probably damaging	Het
Sgsm1	T	C	5: 113,434,633 (GRCm39)		probably benign	Het
Slc4a9	A	G	18: 36,665,040 (GRCm39)	Y463C	probably damaging	Het
Speer1j	C	T	5: 11,555,228 (GRCm39)	Q66*	probably null	Het
Sptan1	A	G	2: 29,888,195 (GRCm39)	M936V	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tbx20	T	A	9: 24,685,033 (GRCm39)	N37Y	probably benign	Het
Tent4a	T	A	13: 69,658,744 (GRCm39)	M364L	probably benign	Het
Tex14	C	T	11: 87,377,100 (GRCm39)	T148I	probably benign	Het
Ubxn7	A	G	16: 32,200,423 (GRCm39)	E371G	probably benign	Het
Ugt2b35	T	C	5: 87,149,096 (GRCm39)	F116L	probably benign	Het
Vmn2r111	C	T	17: 22,778,023 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,003,091 (GRCm39)	L167P	probably benign	Het
Vps13b	T	C	15: 35,917,288 (GRCm39)	W3711R	probably damaging	Het
Wdr5	A	T	2: 27,424,840 (GRCm39)	T326S	probably benign	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
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
R2496:Maml1	UTSW	11	50,149,371 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16