Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Maml1'

569513

Institutional Source

Beutler Lab

Gene Symbol

Maml1

Ensembl Gene

ENSMUSG00000050567

Gene Name

mastermind like transcriptional coactivator 1

Synonyms

Mam-1, D930008C07Rik

MMRRC Submission

045426-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50146461-50183138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50157276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 300 (A300T)

Ref Sequence

ENSEMBL: ENSMUSP00000059210 (fasta)

Gene Model

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

AlphaFold

Q6T264

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059458
AA Change: A300T

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: A300T

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

SMART Domains

Protein: ENSMUSP00000118188
Gene: ENSMUSG00000050567
AA Change: A214T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	G	A	3: 59,840,174 (GRCm39)		probably null	Het
Abca15	A	T	7: 119,987,456 (GRCm39)	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,462,476 (GRCm39)	Q180E	probably benign	Het
Adamts8	A	G	9: 30,873,363 (GRCm39)	D856G	probably benign	Het
Agrn	A	T	4: 156,259,371 (GRCm39)	C828*	probably null	Het
Ankub1	T	C	3: 57,573,108 (GRCm39)	T205A	probably benign	Het
Atm	A	T	9: 53,373,803 (GRCm39)	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,799,855 (GRCm39)	F257L	probably benign	Het
Bcat2	T	A	7: 45,224,909 (GRCm39)	C27S	probably benign	Het
Bod1l	G	A	5: 41,978,867 (GRCm39)	R816C	probably damaging	Het
Btg3	A	G	16: 78,161,695 (GRCm39)	Y172H	probably benign	Het
Cacna1d	T	C	14: 29,767,239 (GRCm39)	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,406,026 (GRCm39)	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,508,110 (GRCm39)	V646A	probably benign	Het
Ccp110	C	T	7: 118,321,433 (GRCm39)	P363S	probably damaging	Het
Cct4	C	A	11: 22,951,564 (GRCm39)	T377K	possibly damaging	Het
Cemip2	C	A	19: 21,803,509 (GRCm39)	Y847*	probably null	Het
Cep350	T	A	1: 155,738,022 (GRCm39)	H2607L	probably benign	Het
Cfap46	A	G	7: 139,200,020 (GRCm39)	F1954L	unknown	Het
Chat	C	T	14: 32,145,213 (GRCm39)		probably null	Het
Clasp2	A	G	9: 113,705,421 (GRCm39)		probably null	Het
Cldn9	T	C	17: 23,901,989 (GRCm39)	D212G	probably benign	Het
Cp	G	A	3: 20,018,696 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,576,148 (GRCm39)	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,625,299 (GRCm39)	D4060G	probably damaging	Het
Dpyd	A	G	3: 118,858,570 (GRCm39)	T595A	probably damaging	Het
Eps8	G	A	6: 137,486,211 (GRCm39)	R434C	possibly damaging	Het
Fasl	A	G	1: 161,615,557 (GRCm39)	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,826,712 (GRCm39)	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,478,025 (GRCm39)	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,825,653 (GRCm39)	N102S	probably damaging	Het
Gm2381	T	C	7: 42,471,804 (GRCm39)	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,498,237 (GRCm39)	K269N	probably damaging	Het
Icosl	C	A	10: 77,909,707 (GRCm39)	Y217*	probably null	Het
Il17rd	G	T	14: 26,809,503 (GRCm39)	R153L	probably benign	Het
Kif17	C	A	4: 138,025,617 (GRCm39)	T973K	possibly damaging	Het
Klk1b16	A	G	7: 43,790,907 (GRCm39)	I236M	probably benign	Het
Lgmn	G	A	12: 102,389,998 (GRCm39)		probably benign	Het
Lmbr1l	T	C	15: 98,811,468 (GRCm39)	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,584,474 (GRCm39)	I196N	possibly damaging	Het
Mapkap1	A	T	2: 34,423,829 (GRCm39)	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,315,568 (GRCm39)	T69A	probably benign	Het
Mlph	G	A	1: 90,849,705 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,111,435 (GRCm39)	M1625L	probably benign	Het
Myh3	G	T	11: 66,981,847 (GRCm39)	R781L	probably benign	Het
Nckap5	A	T	1: 125,953,786 (GRCm39)	I922K	probably benign	Het
Nlrp5	T	A	7: 23,117,059 (GRCm39)	M261K	probably damaging	Het
Or1e1d-ps1	G	A	11: 73,819,663 (GRCm39)	M204I	probably benign	Het
Or4f47	A	T	2: 111,972,514 (GRCm39)	S75C	possibly damaging	Het
Or5af1	T	A	11: 58,722,750 (GRCm39)	Y257N	probably damaging	Het
Or8g52	A	G	9: 39,630,906 (GRCm39)	N128D	probably benign	Het
Pak1	T	A	7: 97,538,179 (GRCm39)	V262E	probably benign	Het
Pigw	A	T	11: 84,767,930 (GRCm39)	D466E	probably damaging	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,240,432 (GRCm39)		probably benign	Het
Rfx1	A	G	8: 84,800,385 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,500,639 (GRCm39)	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,384,702 (GRCm39)	D226E	probably benign	Het
Sgk3	G	A	1: 9,954,701 (GRCm39)	A271T	possibly damaging	Het
Sh2d5	T	A	4: 137,984,150 (GRCm39)	C173S	probably benign	Het
Skint8	T	C	4: 111,796,769 (GRCm39)	V291A	probably benign	Het
Slc22a27	T	A	19: 7,904,054 (GRCm39)	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,023,751 (GRCm39)	V449I	probably benign	Het
Slc39a9	T	C	12: 80,726,316 (GRCm39)	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,183,942 (GRCm39)	H495Y	probably damaging	Het
Stab2	G	A	10: 86,805,049 (GRCm39)	Q310*	probably null	Het
Supt16	C	A	14: 52,408,948 (GRCm39)	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,689,212 (GRCm39)	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,439,685 (GRCm39)	T565M	unknown	Het
Tll1	G	A	8: 64,478,176 (GRCm39)	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,867,512 (GRCm39)	T232I	possibly damaging	Het
Trim65	T	G	11: 116,019,116 (GRCm39)	D141A	probably benign	Het
Trim80	T	C	11: 115,332,042 (GRCm39)	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,709,051 (GRCm39)	I83N	probably benign	Het
Vnn3	G	A	10: 23,727,806 (GRCm39)	G72D	probably benign	Het
Wasl	G	T	6: 24,619,686 (GRCm39)	P278Q	unknown	Het
Wdr62	A	T	7: 29,943,342 (GRCm39)	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,942,814 (GRCm39)	T663I	unknown	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
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
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'- AACAGAGTCTGAGAGCTCCC -3'
(R):5'- AACTCAAGCAGGAGCCAGTG -3'

Sequencing Primer
(F):5'- CAAGGCTTGGAGAATCTGTGCC -3'
(R):5'- ACCTGCCGTGCATGATC -3'

Posted On

2019-09-13