Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Maml1'

218587

Institutional Source

Beutler Lab

Gene Symbol

Maml1

Ensembl Gene

ENSMUSG00000050567

Gene Name

mastermind like transcriptional coactivator 1

Synonyms

Mam-1, D930008C07Rik

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0674 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

50146461-50183138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50148885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 952 (Q952K)

Ref Sequence

ENSEMBL: ENSMUSP00000059210 (fasta)

Gene Model

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

AlphaFold

Q6T264

Predicted Effect

probably benign
Transcript: ENSMUST00000059458
AA Change: Q952K

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: Q952K

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

Meta Mutation Damage Score

0.0811

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,657,130 (GRCm39)		probably benign	Het
Adgrl2	A	T	3: 148,543,315 (GRCm39)	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,067,102 (GRCm39)		probably benign	Het
Atp2a3	T	C	11: 72,872,711 (GRCm39)	I753T	probably damaging	Het
Bace2	G	A	16: 97,237,949 (GRCm39)	V467M	possibly damaging	Het
Bltp1	T	A	3: 37,098,775 (GRCm39)	V1134E	possibly damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cd2ap	T	A	17: 43,156,283 (GRCm39)	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 126,794,008 (GRCm39)	E94K	probably damaging	Het
Chrna3	C	A	9: 54,922,456 (GRCm39)	A451S	probably damaging	Het
Cmya5	C	A	13: 93,229,299 (GRCm39)	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,050,550 (GRCm39)	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,385,872 (GRCm39)	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,727,393 (GRCm39)	P96L	probably damaging	Het
Ddr1	G	T	17: 36,000,561 (GRCm39)	S368*	probably null	Het
E2f1	T	C	2: 154,406,029 (GRCm39)	K115E	probably damaging	Het
Erlec1	A	T	11: 30,885,073 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,571,948 (GRCm39)		probably benign	Het
Gml	G	A	15: 74,685,709 (GRCm39)	T92I	probably damaging	Het
Herc1	T	C	9: 66,408,474 (GRCm39)	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,017,591 (GRCm39)	S5P	probably benign	Het
Itgam	T	C	7: 127,715,390 (GRCm39)	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,127,086 (GRCm39)	N178I	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,270,768 (GRCm39)	T997I	possibly damaging	Het
Map2	A	G	1: 66,452,361 (GRCm39)	E499G	probably damaging	Het
Map4k4	A	T	1: 40,042,975 (GRCm39)	H118L	probably damaging	Het
Myzap	T	C	9: 71,422,426 (GRCm39)	D382G	probably damaging	Het
Naip5	T	C	13: 100,359,707 (GRCm39)	T510A	probably benign	Het
Nek6	G	C	2: 38,448,916 (GRCm39)	G95R	possibly damaging	Het
Nphp3	T	C	9: 103,913,481 (GRCm39)		probably null	Het
Nr1d2	T	C	14: 18,215,086 (GRCm38)	S309G	probably benign	Het
Nrcam	A	T	12: 44,611,105 (GRCm39)	I570F	probably benign	Het
Oas1d	T	C	5: 121,058,049 (GRCm39)	I331T	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4f14	A	T	2: 111,743,018 (GRCm39)	F86I	probably benign	Het
Or51b6	T	C	7: 103,556,462 (GRCm39)	V272A	probably benign	Het
Pex5l	A	T	3: 33,006,765 (GRCm39)	W535R	probably damaging	Het
Pisd	C	T	5: 32,931,781 (GRCm39)	R202H	probably benign	Het
Plxna2	A	G	1: 194,331,783 (GRCm39)	N403S	probably benign	Het
Prdm12	A	G	2: 31,533,924 (GRCm39)	I180M	probably benign	Het
Prpf6	A	G	2: 181,273,767 (GRCm39)	T304A	probably benign	Het
Ptprm	G	A	17: 67,498,336 (GRCm39)	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,132,148 (GRCm39)	I223N	probably damaging	Het
Pygb	G	A	2: 150,657,054 (GRCm39)		probably null	Het
Qrsl1	A	G	10: 43,771,997 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,508,818 (GRCm39)		probably null	Het
Ralbp1	C	T	17: 66,159,748 (GRCm39)	R505H	probably benign	Het
Rimbp3	T	C	16: 17,030,601 (GRCm39)	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,007,608 (GRCm39)	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,032,498 (GRCm39)		probably benign	Het
Tcp1	T	C	17: 13,142,131 (GRCm39)	I375T	probably damaging	Het
Tiparp	T	C	3: 65,460,586 (GRCm39)	I525T	probably benign	Het
Tjp2	A	G	19: 24,108,680 (GRCm39)	L144P	probably benign	Het
Tssk2	A	G	16: 17,716,930 (GRCm39)	D111G	probably benign	Het
Ttn	T	C	2: 76,775,823 (GRCm39)	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vsig10	C	T	5: 117,481,911 (GRCm39)	T367M	probably damaging	Het
Wnt11	T	C	7: 98,495,735 (GRCm39)	C80R	probably damaging	Het
Zar1	T	A	5: 72,737,643 (GRCm39)		probably null	Het
Zfp52	A	T	17: 21,782,108 (GRCm39)	H652L	probably damaging	Het
Zpr1	T	A	9: 46,186,747 (GRCm39)	L194Q	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
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

Predicted Primers

PCR Primer
(F):5'- GTTCTTCAGCAGCGAGTCGATCAG -3'
(R):5'- GCAGCTCCCAGTTTCCACATACAG -3'

Sequencing Primer
(F):5'- ATCAGGTCAGTGTGTCCAGC -3'
(R):5'- GCCAGCAGTTCTCCCAAG -3'

Posted On

2014-08-18