Mutagenetix > Incidental Mutation

Incidental Mutation 'R1641:Maml1'

173545

Institutional Source

Beutler Lab

Gene Symbol

Maml1

Ensembl Gene

ENSMUSG00000050567

Gene Name

mastermind like transcriptional coactivator 1

Synonyms

Mam-1, D930008C07Rik

MMRRC Submission

039677-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50146461-50183138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50157774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 134 (P134S)

Ref Sequence

ENSEMBL: ENSMUSP00000059210 (fasta)

Gene Model

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

AlphaFold

Q6T264

Predicted Effect

probably benign
Transcript: ENSMUST00000059458
AA Change: P134S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059210
Gene: ENSMUSG00000050567
AA Change: P134S

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: P48S

SMART Domains

Protein: ENSMUSP00000118188
Gene: ENSMUSG00000050567
AA Change: P48S

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: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,039,626 (GRCm39)	T228S	probably benign	Het
Adamts2	C	T	11: 50,683,612 (GRCm39)	P965S	probably damaging	Het
Ankrd11	A	G	8: 123,618,485 (GRCm39)	I1768T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Baz2b	A	T	2: 59,743,234 (GRCm39)	L1579Q	probably damaging	Het
Btbd7	A	G	12: 102,757,034 (GRCm39)	V684A	probably damaging	Het
Camk1g	T	A	1: 193,038,665 (GRCm39)	I86F	probably benign	Het
Capn13	A	T	17: 73,689,889 (GRCm39)	S41T	possibly damaging	Het
Cep192	C	A	18: 67,980,504 (GRCm39)	L1422I	probably damaging	Het
Chaf1a	T	C	17: 56,354,380 (GRCm39)	F217L	unknown	Het
Clca3b	A	T	3: 144,529,274 (GRCm39)	M800K	possibly damaging	Het
Cplane1	A	G	15: 8,258,443 (GRCm39)	T2230A	probably benign	Het
Crocc	A	G	4: 140,744,388 (GRCm39)	V1836A	probably benign	Het
Csmd2	G	A	4: 128,377,188 (GRCm39)	V2023M	possibly damaging	Het
Cul9	A	G	17: 46,854,486 (GRCm39)	V72A	possibly damaging	Het
Ddx52	T	C	11: 83,834,269 (GRCm39)		probably null	Het
Dennd5b	A	C	6: 148,969,703 (GRCm39)	V250G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gtpbp4	A	T	13: 9,023,285 (GRCm39)	M593K	probably benign	Het
Il21	A	G	3: 37,286,681 (GRCm39)	F12L	probably benign	Het
Lrit2	T	A	14: 36,791,105 (GRCm39)	N261K	probably benign	Het
Lrrc39	G	T	3: 116,364,562 (GRCm39)	C151F	probably damaging	Het
Lsm14a	C	A	7: 34,050,799 (GRCm39)	R426L	probably damaging	Het
Map3k13	T	C	16: 21,722,542 (GRCm39)	C235R	probably damaging	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nsmaf	T	C	4: 6,409,884 (GRCm39)	E663G	probably benign	Het
Ntrk3	T	C	7: 78,005,822 (GRCm39)	N513S	probably damaging	Het
Nufip1	T	G	14: 76,363,692 (GRCm39)	N305K	possibly damaging	Het
Or10al5	C	T	17: 38,062,916 (GRCm39)	T57I	possibly damaging	Het
Or2ag1b	T	A	7: 106,288,918 (GRCm39)	T7S	probably benign	Het
Or4c10b	A	T	2: 89,711,745 (GRCm39)	T192S	probably benign	Het
Or51a6	T	A	7: 102,604,175 (GRCm39)	D218V	probably benign	Het
Or9r3	A	T	10: 129,947,872 (GRCm39)	Y262*	probably null	Het
Pi4ka	A	G	16: 17,194,894 (GRCm39)	V168A	probably benign	Het
Prex2	T	C	1: 11,301,996 (GRCm39)	V1433A	probably damaging	Het
Prl7a1	A	T	13: 27,817,612 (GRCm39)	D217E	probably damaging	Het
Prr3	G	A	17: 36,285,484 (GRCm39)	R86*	probably null	Het
Ptprz1	T	C	6: 23,049,605 (GRCm39)	F1350L	probably damaging	Het
R3hcc1l	T	C	19: 42,552,046 (GRCm39)	S348P	possibly damaging	Het
Rag2	A	T	2: 101,459,960 (GRCm39)	Q90L	probably benign	Het
Scel	T	C	14: 103,770,752 (GRCm39)	L62P	probably damaging	Het
Serpini1	A	T	3: 75,521,977 (GRCm39)	E156V	possibly damaging	Het
Skint4	T	A	4: 111,993,240 (GRCm39)	I321K	possibly damaging	Het
Slc28a2	A	G	2: 122,286,098 (GRCm39)	D478G	probably damaging	Het
Sppl2b	G	T	10: 80,700,965 (GRCm39)	V164F	probably damaging	Het
Traf5	T	A	1: 191,729,470 (GRCm39)	N527I	probably benign	Het
Ttc3	T	A	16: 94,244,176 (GRCm39)	D17E	probably benign	Het
Txlnb	G	A	10: 17,682,521 (GRCm39)	A148T	possibly damaging	Het
Ubtf	A	G	11: 102,201,757 (GRCm39)	Y256H	probably damaging	Het
Usp25	T	C	16: 76,868,559 (GRCm39)	F320S	possibly damaging	Het
Utp14b	T	C	1: 78,643,656 (GRCm39)	V518A	probably benign	Het
Utp20	A	G	10: 88,593,834 (GRCm39)	V2192A	possibly damaging	Het
Vmn1r173	T	A	7: 23,402,533 (GRCm39)	M256K	probably benign	Het
Vmn2r114	T	A	17: 23,515,962 (GRCm39)	M510L	probably benign	Het
Xdh	T	A	17: 74,233,547 (GRCm39)	Q189L	probably benign	Het
Zfat	C	T	15: 68,051,959 (GRCm39)	A605T	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
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
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'- TCAGGCTTAGAGGAAAGGGCTCAC -3'
(R):5'- TGCTCACCTTCCCATAGCAATTCAG -3'

Sequencing Primer
(F):5'- GAGTCTGCCAGACACTTCTTG -3'
(R):5'- CCTAGTGATAGAGGCAGTGCTAC -3'

Posted On

2014-04-24