Mutagenetix > Incidental Mutations

Incidental Mutation 'R4716:Maml1'

354051

Institutional Source

Beutler Lab

Gene Symbol

Maml1

Ensembl Gene

ENSMUSG00000050567

Gene Name

mastermind like transcriptional coactivator 1

Synonyms

D930008C07Rik, Mam-1

MMRRC Submission

041983-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50255634-50292311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50257867 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1015 (D1015E)

Ref Sequence

ENSEMBL: ENSMUSP00000059210 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000059458
AA Change: D1015E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: D1015E

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	G	19: 45,960,342	S233P	probably damaging	Het
Abi3bp	C	T	16: 56,650,725	R578*	probably null	Het
Adam8	T	A	7: 139,983,938	D717V	probably benign	Het
Aknad1	T	C	3: 108,775,101		probably null	Het
Alk	A	T	17: 72,205,942	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,454,583	Q101*	probably null	Het
Anpep	A	C	7: 79,826,632	S829A	probably benign	Het
Ate1	A	T	7: 130,513,781	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,061,064	L533F	probably damaging	Het
Bach1	T	C	16: 87,715,379		probably benign	Het
Baz2b	T	C	2: 59,969,255	D240G	probably benign	Het
Cdc14b	C	T	13: 64,209,200	S21N	probably damaging	Het
Cdh3	A	G	8: 106,543,888	I466V	probably benign	Het
Cog1	A	G	11: 113,657,097	E137G	probably damaging	Het
Col4a2	A	G	8: 11,402,224	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,802,661		probably null	Het
Dclk2	C	T	3: 86,919,881	R97H	probably damaging	Het
Ddx52	T	C	11: 83,955,205		probably null	Het
Dhx58	C	T	11: 100,696,971		probably null	Het
Dmp1	T	A	5: 104,212,561	S368T	probably damaging	Het
Dnah17	C	A	11: 118,073,648	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,619,576	V10A	probably benign	Het
Dscam	G	T	16: 96,619,571	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,450,592	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648		probably null	Het
F5	A	G	1: 164,193,919	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,314,045	P77S	probably benign	Het
Fars2	G	A	13: 36,205,068	R180H	probably damaging	Het
Fnbp1	T	C	2: 31,055,520	T154A	probably benign	Het
Fsip2	T	A	2: 82,974,859	N507K	probably damaging	Het
Glg1	G	T	8: 111,160,775	Y449*	probably null	Het
Gm15130	A	T	2: 111,134,215	Y187*	probably null	Het
Gm973	A	T	1: 59,552,554	K366*	probably null	Het
Hao1	A	G	2: 134,505,620	I255T	probably damaging	Het
Herc6	T	A	6: 57,598,438	V148E	probably damaging	Het
Hist1h2bj	T	A	13: 22,043,363	V45E	possibly damaging	Het
Insm2	T	A	12: 55,600,892	C474S	possibly damaging	Het
Itch	T	C	2: 155,210,582		probably null	Het
Itga2	A	G	13: 114,857,373	V748A	probably damaging	Het
Itga9	T	A	9: 118,681,758	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,386,178	D338E	probably benign	Het
Krt40	G	A	11: 99,540,219	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,985,174	V468A	probably damaging	Het
Lactb2	G	A	1: 13,638,395	P143L	probably damaging	Het
Lrba	C	A	3: 86,642,714	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,013,171	I106F	probably benign	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Lypd6	T	C	2: 50,188,843		probably null	Het
Mdfi	T	G	17: 47,820,981	D106A	possibly damaging	Het
Olfm3	T	C	3: 115,081,106	M17T	probably benign	Het
Olfr136	A	C	17: 38,335,840	I228L	possibly damaging	Het
Olfr1394	A	G	11: 49,160,890	Y292C	probably damaging	Het
Olfr894	T	A	9: 38,219,418	N198K	probably damaging	Het
Olfr948	A	G	9: 39,319,429	F62L	probably benign	Het
Otud7b	T	G	3: 96,150,910	L261V	probably damaging	Het
P2ry1	A	G	3: 61,003,472	N11D	probably damaging	Het
Pate2	T	C	9: 35,685,682		probably benign	Het
Pcdhb16	A	T	18: 37,479,405	T473S	probably benign	Het
Per1	A	G	11: 69,101,231	E137G	probably damaging	Het
Phf11d	T	C	14: 59,353,342	T189A	probably benign	Het
Pik3r5	C	A	11: 68,495,204	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,246,476	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,576,133	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,556,032	N2964K	probably damaging	Het
Plch1	T	G	3: 63,781,546	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,740,469	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 35,929,460	D547E	probably benign	Het
Prkdc	T	A	16: 15,810,837	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,721,868	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,820,968	M73L	probably benign	Het
Rrp12	A	G	19: 41,877,428	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,177,123	F338L	unknown	Het
Slc17a1	G	T	13: 23,880,593	V347L	probably benign	Het
Slc1a2	T	A	2: 102,748,538	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,718,572	V327A	probably benign	Het
Slc6a3	A	C	13: 73,557,076	I229L	probably benign	Het
Sos2	T	C	12: 69,607,371	I703V	probably benign	Het
Srpk1	T	C	17: 28,622,008	T15A	probably benign	Het
St6gal2	A	T	17: 55,510,366	Q510L	probably benign	Het
Stk24	T	C	14: 121,294,718	D289G	possibly damaging	Het
Taf2	T	G	15: 55,065,968	K64T	probably benign	Het
Tbx3	A	G	5: 119,675,670	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,804,196	F317I	probably damaging	Het
Trav10	A	G	14: 53,506,040	S33G	possibly damaging	Het
Ttn	T	A	2: 76,915,064	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,254,280	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,344,612	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,562,137	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,312,665	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,979,562	L1717*	probably null	Het
Zfp719	A	G	7: 43,591,111	N708D	possibly damaging	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
IGL02690:Maml1	APN	11	50258630	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGAGACTGACCAGAGCTG -3'
(R):5'- TGCCTGGCTTAAGTCCTTCG -3'

Sequencing Primer
(F):5'- GCTGGCCTCAGGTGTGG -3'
(R):5'- TTAAGTCCTTCGGGGCCC -3'

Posted On

2015-10-21