Mutagenetix > Incidental Mutation

Incidental Mutation 'R9291:Maml3'

704261

Institutional Source

Beutler Lab

Gene Symbol

Maml3

Ensembl Gene

ENSMUSG00000061143

Gene Name

mastermind like transcriptional coactivator 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51595032-52012740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51764328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 212 (T212M)

Ref Sequence

ENSEMBL: ENSMUSP00000112637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121440]

AlphaFold

D4QGC2

Predicted Effect

probably benign
Transcript: ENSMUST00000121440
AA Change: T212M

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112637
Gene: ENSMUSG00000061143
AA Change: T212M

Domain	Start	End	E-Value	Type
low complexity region	5	11	N/A	INTRINSIC
low complexity region	12	32	N/A	INTRINSIC
low complexity region	44	65	N/A	INTRINSIC
MamL-1	67	126	6.54e-30	SMART
low complexity region	436	454	N/A	INTRINSIC
coiled coil region	459	502	N/A	INTRINSIC
low complexity region	504	515	N/A	INTRINSIC
low complexity region	621	647	N/A	INTRINSIC
low complexity region	698	714	N/A	INTRINSIC
coiled coil region	736	778	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,464 (GRCm39)	N551S	probably benign	Het
Abcg5	C	A	17: 84,976,380 (GRCm39)	V486L	probably benign	Het
Acoxl	T	A	2: 127,814,493 (GRCm39)	I303N	probably damaging	Het
Atp6v1h	G	T	1: 5,220,284 (GRCm39)	W464L	probably null	Het
Cdcp2	A	G	4: 106,964,053 (GRCm39)	D301G	probably damaging	Het
Cenpv	T	C	11: 62,429,688 (GRCm39)	D115G	probably benign	Het
Cnfn	T	C	7: 25,067,476 (GRCm39)	D67G	possibly damaging	Het
Col27a1	A	C	4: 63,142,539 (GRCm39)	I76L	probably damaging	Het
Crb2	G	A	2: 37,682,213 (GRCm39)	V865I	probably damaging	Het
Ctf1	T	A	7: 127,316,204 (GRCm39)	L58Q	probably damaging	Het
Dennd6b	C	T	15: 89,071,590 (GRCm39)	V276M	possibly damaging	Het
Dis3l2	A	G	1: 86,901,215 (GRCm39)	T483A	possibly damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnah8	T	C	17: 30,944,099 (GRCm39)	I1772T	probably damaging	Het
Dscaml1	T	C	9: 45,359,251 (GRCm39)	I170T	probably damaging	Het
Ehd4	G	T	2: 119,921,755 (GRCm39)	D500E	probably damaging	Het
Elac2	T	C	11: 64,883,142 (GRCm39)	I388T	probably damaging	Het
Entpd6	G	A	2: 150,608,959 (GRCm39)	V348M	probably benign	Het
Epg5	T	A	18: 78,056,065 (GRCm39)	C1746*	probably null	Het
Exosc2	G	T	2: 31,560,871 (GRCm39)	M40I	probably benign	Het
Fam193a	T	C	5: 34,593,835 (GRCm39)	Y27H	probably damaging	Het
Gm8005	A	G	14: 42,258,885 (GRCm39)	F148L		Het
Hectd4	T	C	5: 121,487,028 (GRCm39)	V3341A	probably benign	Het
Hecw1	A	G	13: 14,491,522 (GRCm39)	V77A	probably benign	Het
Irf2bp1	T	A	7: 18,738,458 (GRCm39)	C33S	probably damaging	Het
Kank4	A	T	4: 98,666,688 (GRCm39)	H586Q	probably benign	Het
Kcnu1	A	G	8: 26,390,041 (GRCm39)	N619S	probably benign	Het
Kndc1	A	G	7: 139,475,140 (GRCm39)	E13G	possibly damaging	Het
Lrp2	A	T	2: 69,310,379 (GRCm39)	D2731E	probably damaging	Het
Lyst	A	G	13: 13,883,938 (GRCm39)	N2942S	probably benign	Het
Mill2	T	C	7: 18,575,416 (GRCm39)	V41A	probably benign	Het
Moxd2	C	A	6: 40,857,362 (GRCm39)	C466F	probably damaging	Het
Nefh	A	G	11: 4,890,871 (GRCm39)	S583P	probably benign	Het
Nlrp9b	T	A	7: 19,758,511 (GRCm39)	S583T	possibly damaging	Het
Nup214	T	G	2: 31,867,806 (GRCm39)	M91R	probably benign	Het
Or4c121	A	C	2: 89,024,138 (GRCm39)	M80R	possibly damaging	Het
Or6c206	T	C	10: 129,097,202 (GRCm39)	I124T	probably damaging	Het
Or8k53	A	T	2: 86,177,768 (GRCm39)	I114N	probably benign	Het
Otud4	A	G	8: 80,372,952 (GRCm39)	Y90C	probably damaging	Het
Papln	C	A	12: 83,825,284 (GRCm39)	T575N	probably benign	Het
Pkhd1l1	T	A	15: 44,433,372 (GRCm39)	N3417K	probably damaging	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Pramel26	A	T	4: 143,539,251 (GRCm39)	Y81N	probably benign	Het
Rchy1	A	G	5: 92,099,765 (GRCm39)	L191S	possibly damaging	Het
Rims1	T	C	1: 22,467,746 (GRCm39)	D296G		Het
Sftpb	T	A	6: 72,286,880 (GRCm39)	C261*	probably null	Het
Sgcd	C	T	11: 46,870,166 (GRCm39)	C265Y	probably damaging	Het
Slc44a5	G	A	3: 153,962,218 (GRCm39)	V384M	possibly damaging	Het
Slx4ip	T	A	2: 136,888,716 (GRCm39)	N132K	probably benign	Het
Sspo	C	T	6: 48,473,330 (GRCm39)	T4861M	probably damaging	Het
Swt1	T	A	1: 151,286,694 (GRCm39)	E266V	probably damaging	Het
Tbc1d9	A	G	8: 83,987,750 (GRCm39)	D903G	probably damaging	Het
Tbx18	A	T	9: 87,611,535 (GRCm39)	M165K	probably damaging	Het
Tmem25	T	C	9: 44,706,799 (GRCm39)	N282S	probably damaging	Het
Tom1l2	T	C	11: 60,153,556 (GRCm39)	I140M	probably benign	Het
Trak2	A	G	1: 58,943,058 (GRCm39)	S783P	probably damaging	Het
Trpv4	G	A	5: 114,768,068 (GRCm39)	T534M	probably benign	Het
Ttc6	G	T	12: 57,622,730 (GRCm39)	R43M	probably damaging	Het
Vmn1r194	A	G	13: 22,428,875 (GRCm39)	Y164C	probably benign	Het
Vmn1r228	T	C	17: 20,997,023 (GRCm39)	Y165C	probably benign	Het
Vps13b	C	A	15: 35,847,059 (GRCm39)	T2614K	probably damaging	Het
Zdhhc14	T	C	17: 5,698,237 (GRCm39)	F102S	probably benign	Het
Zyg11b	A	G	4: 108,108,014 (GRCm39)	M464T	probably benign	Het

Other mutations in Maml3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Maml3	APN	3	51,598,125 (GRCm39)	missense	probably benign	0.13
IGL01138:Maml3	APN	3	51,597,979 (GRCm39)	missense	possibly damaging	0.87
IGL02173:Maml3	APN	3	51,598,208 (GRCm39)	missense	probably damaging	0.96
IGL02220:Maml3	APN	3	51,597,639 (GRCm39)	missense	possibly damaging	0.94
IGL02725:Maml3	APN	3	52,011,195 (GRCm39)	missense	probably damaging	0.97
IGL02838:Maml3	APN	3	51,597,511 (GRCm39)	missense	probably damaging	1.00
R0683:Maml3	UTSW	3	51,764,173 (GRCm39)	nonsense	probably null
R1966:Maml3	UTSW	3	52,011,560 (GRCm39)	missense	unknown
R1980:Maml3	UTSW	3	52,011,473 (GRCm39)	missense	unknown
R1989:Maml3	UTSW	3	51,605,179 (GRCm39)	missense	probably damaging	0.98
R1992:Maml3	UTSW	3	51,598,178 (GRCm39)	missense	probably benign	0.01
R2047:Maml3	UTSW	3	51,597,866 (GRCm39)	missense	probably damaging	1.00
R2113:Maml3	UTSW	3	51,598,077 (GRCm39)	missense	probably damaging	1.00
R2876:Maml3	UTSW	3	51,597,480 (GRCm39)	missense	possibly damaging	0.86
R3176:Maml3	UTSW	3	51,764,351 (GRCm39)	missense	possibly damaging	0.62
R3276:Maml3	UTSW	3	51,764,351 (GRCm39)	missense	possibly damaging	0.62
R4191:Maml3	UTSW	3	51,597,390 (GRCm39)	missense	probably benign
R4576:Maml3	UTSW	3	51,763,927 (GRCm39)	nonsense	probably null
R4609:Maml3	UTSW	3	51,763,013 (GRCm39)	missense	probably damaging	1.00
R4628:Maml3	UTSW	3	51,703,891 (GRCm39)	intron	probably benign
R4734:Maml3	UTSW	3	51,597,296 (GRCm39)	missense	probably damaging	1.00
R4776:Maml3	UTSW	3	51,763,953 (GRCm39)	missense	probably benign	0.28
R4868:Maml3	UTSW	3	52,011,345 (GRCm39)	nonsense	probably null
R4889:Maml3	UTSW	3	51,601,931 (GRCm39)	intron	probably benign
R4891:Maml3	UTSW	3	51,601,931 (GRCm39)	intron	probably benign
R4947:Maml3	UTSW	3	51,763,960 (GRCm39)	missense	probably benign	0.01
R5011:Maml3	UTSW	3	51,598,196 (GRCm39)	missense	possibly damaging	0.87
R5047:Maml3	UTSW	3	51,598,262 (GRCm39)	missense	possibly damaging	0.88
R5344:Maml3	UTSW	3	52,011,146 (GRCm39)	missense	probably damaging	0.99
R5743:Maml3	UTSW	3	52,011,553 (GRCm39)	missense	unknown
R6724:Maml3	UTSW	3	51,763,296 (GRCm39)	missense	probably damaging	1.00
R6885:Maml3	UTSW	3	51,605,000 (GRCm39)
R6938:Maml3	UTSW	3	52,011,159 (GRCm39)	missense	probably damaging	0.98
R7581:Maml3	UTSW	3	51,764,189 (GRCm39)	missense	probably benign	0.06
R7895:Maml3	UTSW	3	51,605,143 (GRCm39)	missense	probably damaging	1.00
R8059:Maml3	UTSW	3	51,764,110 (GRCm39)	missense	probably damaging	1.00
R8404:Maml3	UTSW	3	51,598,077 (GRCm39)	missense	probably damaging	1.00
R8551:Maml3	UTSW	3	51,764,488 (GRCm39)	missense	probably benign	0.14
R8987:Maml3	UTSW	3	51,597,868 (GRCm39)	missense	probably damaging	1.00
R9548:Maml3	UTSW	3	51,763,791 (GRCm39)	missense	possibly damaging	0.81
RF022:Maml3	UTSW	3	51,764,083 (GRCm39)	missense	probably damaging	1.00
Z1192:Maml3	UTSW	3	51,763,165 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGAAAGGGACGTCTCCGATG -3'
(R):5'- TTCCAGCTGCAAGAGACTGTG -3'

Sequencing Primer
(F):5'- ACGTCTCCGATGTGTCTATGCAG -3'
(R):5'- CAGCTGCAAGAGACTGTGAAGAG -3'

Posted On

2022-03-25