Mutagenetix > Incidental Mutation

Incidental Mutation 'R5338:Maml1'

423645

Institutional Source

Beutler Lab

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 #

R5338 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50146461-50183138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50157778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 132 (D132E)

Ref Sequence

ENSEMBL: ENSMUSP00000059210 (fasta)

Gene Model

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

AlphaFold

Q6T264

Predicted Effect

probably benign
Transcript: ENSMUST00000059458
AA Change: D132E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: D132E

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

unknown
Transcript: ENSMUST00000135868
AA Change: D46E

SMART Domains

Protein: ENSMUSP00000118188
Gene: ENSMUSG00000050567
AA Change: D46E

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,597 (GRCm39)	N252K	probably damaging	Het
Abhd16a	A	G	17: 35,313,278 (GRCm39)	E132G	probably damaging	Het
Adgrv1	G	A	13: 81,677,165 (GRCm39)	R1889W	possibly damaging	Het
Aftph	A	T	11: 20,677,203 (GRCm39)	D135E	probably benign	Het
Arf1	A	C	11: 59,104,041 (GRCm39)	F63V	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
B3gnt7	T	A	1: 86,233,366 (GRCm39)	F87Y	probably damaging	Het
Bcat1	A	G	6: 144,953,353 (GRCm39)	Y345H	possibly damaging	Het
Birc2	G	T	9: 7,857,360 (GRCm39)	T371K	probably benign	Het
Ccdc175	A	T	12: 72,231,745 (GRCm39)	S5T	probably damaging	Het
Ccdc186	A	T	19: 56,801,689 (GRCm39)	S143T	possibly damaging	Het
Cct6b	A	T	11: 82,653,015 (GRCm39)	M28K	possibly damaging	Het
Cers4	C	A	8: 4,565,680 (GRCm39)	A42D	probably damaging	Het
Crmp1	G	T	5: 37,437,018 (GRCm39)	V236L	probably benign	Het
Ctdspl2	T	A	2: 121,811,793 (GRCm39)	N212K	probably benign	Het
Dclk3	T	C	9: 111,298,127 (GRCm39)	V557A	possibly damaging	Het
Dnmt1	A	T	9: 20,864,015 (GRCm39)	H23Q	probably benign	Het
Dpp8	G	T	9: 64,971,206 (GRCm39)	E609*	probably null	Het
Dtx3	C	A	10: 127,028,919 (GRCm39)	M106I	probably benign	Het
Ero1b	A	C	13: 12,589,732 (GRCm39)	D45A	probably damaging	Het
Fcho2	T	A	13: 98,867,399 (GRCm39)	D688V	probably damaging	Het
Fhod3	A	T	18: 25,161,138 (GRCm39)	S557C	probably damaging	Het
Flnc	T	C	6: 29,444,063 (GRCm39)	S626P	possibly damaging	Het
Foxi3	G	T	6: 70,937,602 (GRCm39)	G278V	probably damaging	Het
Gbp10	A	G	5: 105,372,166 (GRCm39)	L198P	probably damaging	Het
Gcn1	A	G	5: 115,721,462 (GRCm39)	T458A	probably benign	Het
Gigyf1	C	T	5: 137,521,422 (GRCm39)		probably benign	Het
Gtpbp2	A	C	17: 46,478,760 (GRCm39)	T526P	probably damaging	Het
Gys2	A	G	6: 142,400,239 (GRCm39)	L324S	probably damaging	Het
Hpn	C	A	7: 30,802,781 (GRCm39)	V119L	probably benign	Het
Ino80d	C	A	1: 63,098,098 (GRCm39)	V599L	probably benign	Het
Kcnh3	G	T	15: 99,140,275 (GRCm39)	G1054*	probably null	Het
Mastl	A	T	2: 23,023,503 (GRCm39)	S407T	probably benign	Het
Mettl1	T	C	10: 126,878,954 (GRCm39)	W3R	probably damaging	Het
Mprip	A	G	11: 59,651,399 (GRCm39)	Y1701C	probably damaging	Het
Mylk3	T	C	8: 86,069,350 (GRCm39)	N484D	probably damaging	Het
Nod2	G	A	8: 89,399,413 (GRCm39)		probably null	Het
Nrde2	A	T	12: 100,097,037 (GRCm39)	F921Y	probably damaging	Het
Nup88	G	T	11: 70,835,734 (GRCm39)	T575N	probably damaging	Het
Nxpe3	T	C	16: 55,686,706 (GRCm39)	T101A	possibly damaging	Het
Or1o3	T	A	17: 37,574,532 (GRCm39)	T8S	probably benign	Het
Or2r11	A	G	6: 42,437,908 (GRCm39)	M15T	probably benign	Het
Or4c109	C	T	2: 88,817,809 (GRCm39)	V246I	possibly damaging	Het
Or52e15	A	G	7: 104,645,514 (GRCm39)	L199S	possibly damaging	Het
Or8g32	A	T	9: 39,305,371 (GRCm39)	I92F	probably damaging	Het
Pcnx3	A	T	19: 5,722,624 (GRCm39)	L1356Q	probably damaging	Het
Pkd1	A	T	17: 24,813,510 (GRCm39)	M4017L	probably benign	Het
Polg2	A	G	11: 106,670,064 (GRCm39)	C69R	possibly damaging	Het
Prr5l	T	G	2: 101,547,452 (GRCm39)	S358R	probably benign	Het
Ptprg	A	G	14: 12,154,111 (GRCm38)	T611A	probably benign	Het
Ryk	G	T	9: 102,774,516 (GRCm39)	E417*	probably null	Het
Sbp	T	C	17: 24,161,396 (GRCm39)		probably benign	Het
Sema4a	T	C	3: 88,358,804 (GRCm39)	T155A	probably benign	Het
Shank3	A	G	15: 89,415,914 (GRCm39)		probably null	Het
Slc35d2	A	T	13: 64,245,496 (GRCm39)	M294K	possibly damaging	Het
Slc41a3	A	T	6: 90,589,153 (GRCm39)	N88I	possibly damaging	Het
Slit3	A	G	11: 35,512,975 (GRCm39)	T534A	probably benign	Het
Ssx2ip	A	G	3: 146,142,296 (GRCm39)		probably null	Het
Stard13	T	C	5: 150,983,063 (GRCm39)	K648R	probably damaging	Het
Tanc1	A	T	2: 59,626,178 (GRCm39)	T512S	probably damaging	Het
Tbcc	T	C	17: 47,202,082 (GRCm39)	V156A	probably benign	Het
Terf1	T	G	1: 15,901,787 (GRCm39)	I273R	possibly damaging	Het
Tesc	A	G	5: 118,197,523 (GRCm39)	Y179C	probably damaging	Het
Ttc3	T	G	16: 94,184,900 (GRCm39)	V40G	probably damaging	Het
Tysnd1	T	A	10: 61,532,028 (GRCm39)	F227I	probably damaging	Het
Vps53	T	C	11: 75,972,034 (GRCm39)	E271G	probably damaging	Het
Wdfy4	C	T	14: 32,812,823 (GRCm39)	R1650H	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
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
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'- ACACTTCTTGTTGATGGGATCG -3'
(R):5'- GACCTAGTGATAGAGGCAGTGC -3'

Sequencing Primer
(F):5'- ATCGAGCCCCAGAGAGTG -3'
(R):5'- CCTAGTGATAGAGGCAGTGCTACAAG -3'

Posted On

2016-08-04