Mutagenetix > Incidental Mutation

Incidental Mutation 'R7700:Maml2'

593948

Institutional Source

Beutler Lab

Gene Symbol

Maml2

Ensembl Gene

ENSMUSG00000031925

Gene Name

mastermind like transcriptional coactivator 2

Synonyms

MMRRC Submission

045761-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13297957-13709388 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13621089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 533 (Q533L)

Ref Sequence

ENSEMBL: ENSMUSP00000124083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034401] [ENSMUST00000159294]

AlphaFold

F6U238

Predicted Effect

probably benign
Transcript: ENSMUST00000034401

SMART Domains

Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC
low complexity region	144	163	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: Q533L

Domain	Start	End	E-Value	Type
low complexity region	227	245	N/A	INTRINSIC
low complexity region	313	331	N/A	INTRINSIC
SCOP:d1lsha3	385	459	5e-3	SMART
low complexity region	523	547	N/A	INTRINSIC
low complexity region	571	589	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	734	753	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (85/85)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	G	18: 57,563,316 (GRCm38)		probably null	Het
1810009A15Rik	T	C	19: 8,890,053 (GRCm38)	L72P	probably benign	Het
4930407I10Rik	C	A	15: 82,064,105 (GRCm38)	H734Q	probably benign	Het
4932438A13Rik	C	T	3: 37,026,154 (GRCm38)	S267L	probably benign	Het
4932438A13Rik	T	A	3: 36,974,172 (GRCm38)	N2329K	possibly damaging	Het
Acadl	A	G	1: 66,838,363 (GRCm38)	V343A	possibly damaging	Het
Acot4	A	T	12: 84,043,237 (GRCm38)	D236V	probably damaging	Het
App	T	A	16: 85,040,309 (GRCm38)		probably null	Het
Arfgef1	G	A	1: 10,194,411 (GRCm38)	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,274,757 (GRCm38)	I814T	probably benign	Het
Atr	A	T	9: 95,875,690 (GRCm38)	R968*	probably null	Het
C130060K24Rik	T	A	6: 65,452,956 (GRCm38)	I212N	probably benign	Het
Capn7	C	T	14: 31,352,444 (GRCm38)	T268I	probably benign	Het
Cbwd1	A	G	19: 24,942,681 (GRCm38)		probably null	Het
Csmd2	G	T	4: 128,545,756 (GRCm38)		probably null	Het
Cubn	A	G	2: 13,489,917 (GRCm38)	V107A	possibly damaging	Het
Cubn	A	T	2: 13,348,178 (GRCm38)	F1916L	probably benign	Het
Cyp11b1	T	A	15: 74,835,842 (GRCm38)	T473S	probably damaging	Het
Cyr61	C	T	3: 145,648,692 (GRCm38)	G155R	probably damaging	Het
Dip2c	T	G	13: 9,659,311 (GRCm38)	S1396A	probably benign	Het
Dopey2	T	G	16: 93,798,761 (GRCm38)		probably null	Het
Dyrk1b	T	C	7: 28,184,312 (GRCm38)	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,174,077 (GRCm38)	R206L	probably benign	Het
Ep400	C	T	5: 110,696,032 (GRCm38)	R1594Q	unknown	Het
Esyt1	T	A	10: 128,515,854 (GRCm38)		probably benign	Het
Fmnl2	G	A	2: 53,036,508 (GRCm38)	R69Q		Het
Fry	T	A	5: 150,405,327 (GRCm38)	H1308Q	probably damaging	Het
Fyb2	T	A	4: 105,010,454 (GRCm38)	D667E	probably benign	Het
Gimap7	T	A	6: 48,723,857 (GRCm38)	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,000,180 (GRCm38)	W266R	probably damaging	Het
Gm28042	T	A	2: 120,039,716 (GRCm38)	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,770,635 (GRCm38)	*231R	probably null	Het
Gm5592	C	A	7: 41,286,407 (GRCm38)	A111E	probably damaging	Het
Gm7694	A	G	1: 170,301,148 (GRCm38)	*271Q	probably null	Het
Gm9195	A	C	14: 72,455,902 (GRCm38)		probably null	Het
Ift81	T	C	5: 122,594,560 (GRCm38)	M304V	possibly damaging	Het
Igfals	T	C	17: 24,880,574 (GRCm38)	L213P	probably damaging	Het
Ints3	G	A	3: 90,421,804 (GRCm38)	P83S	probably benign	Het
Kcna10	T	G	3: 107,195,540 (GRCm38)	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,843,719 (GRCm38)	A4520V	unknown	Het
Lemd3	A	T	10: 120,978,090 (GRCm38)	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,996,032 (GRCm38)	N453S	probably damaging	Het
Lmtk3	A	C	7: 45,792,574 (GRCm38)	D352A	probably damaging	Het
Lrrc4c	T	C	2: 97,630,679 (GRCm38)	M550T	possibly damaging	Het
Mdn1	T	A	4: 32,741,344 (GRCm38)	D3815E	probably damaging	Het
Megf8	C	T	7: 25,329,928 (GRCm38)	A299V	possibly damaging	Het
Meis3	G	T	7: 16,177,556 (GRCm38)	E59D	probably benign	Het
Mppe1	A	G	18: 67,225,704 (GRCm38)	*398R	probably null	Het
Mtmr7	G	A	8: 40,606,884 (GRCm38)	A62V	possibly damaging	Het
Mtus1	T	A	8: 41,083,969 (GRCm38)	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,287,759 (GRCm38)	V158E	possibly damaging	Het
Nrbp2	T	G	15: 76,090,897 (GRCm38)	T53P	probably damaging	Het
Nrde2	G	A	12: 100,130,835 (GRCm38)	P902L	probably benign	Het
Olfr1383	A	G	11: 49,524,554 (GRCm38)	Y277C	probably damaging	Het
Olfr509	T	A	7: 108,645,672 (GRCm38)	K301N	probably damaging	Het
Olfr739	T	A	14: 50,425,335 (GRCm38)	M272K	probably benign	Het
Olfr771	T	C	10: 129,160,055 (GRCm38)	M310V	probably benign	Het
Pcdha1	A	G	18: 36,931,062 (GRCm38)	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,249,658 (GRCm38)	K98N	probably damaging	Het
Pdxk	A	T	10: 78,443,930 (GRCm38)		probably null	Het
Phrf1	G	A	7: 141,254,929 (GRCm38)	G207R	unknown	Het
Pik3r6	A	G	11: 68,528,563 (GRCm38)	K124R	probably damaging	Het
Polr2b	T	A	5: 77,340,421 (GRCm38)	F823I	probably benign	Het
Prss58	T	C	6: 40,895,388 (GRCm38)	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,865,411 (GRCm38)	N766I	probably benign	Het
Repin1	T	A	6: 48,597,822 (GRCm38)	S562T	probably damaging	Het
Rgr	C	T	14: 37,044,595 (GRCm38)	D165N	probably damaging	Het
Rho	T	C	6: 115,935,239 (GRCm38)	F221L	probably damaging	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Rnase2a	A	G	14: 51,255,791 (GRCm38)	I39T	probably damaging	Het
Rpl13a	T	G	7: 45,127,236 (GRCm38)	I43L	probably benign	Het
Rpp30	T	C	19: 36,089,158 (GRCm38)	V97A	probably benign	Het
Scube3	T	C	17: 28,167,049 (GRCm38)	Y755H	probably damaging	Het
Sec24a	A	T	11: 51,712,257 (GRCm38)	V788E	probably damaging	Het
Spns2	A	T	11: 72,489,617 (GRCm38)	L60*	probably null	Het
Strc	T	C	2: 121,371,748 (GRCm38)	N1213S	possibly damaging	Het
Tec	A	T	5: 72,786,024 (GRCm38)	I116N	possibly damaging	Het
Tll1	A	T	8: 64,093,954 (GRCm38)	D319E	probably benign	Het
Tmem121b	T	C	6: 120,493,427 (GRCm38)	T110A	unknown	Het
Tmem232	T	A	17: 65,265,218 (GRCm38)	I593F	probably damaging	Het
Tpp2	A	G	1: 43,970,466 (GRCm38)	I487V	probably benign	Het
Ubr4	C	A	4: 139,408,867 (GRCm38)	C934*	probably null	Het
Vmn1r68	A	G	7: 10,527,632 (GRCm38)	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,839,923 (GRCm38)	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,576,361 (GRCm38)	W108R	possibly damaging	Het

Other mutations in Maml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Maml2	APN	9	13,621,604 (GRCm38)	unclassified	probably benign
IGL00424:Maml2	APN	9	13,620,912 (GRCm38)	missense	probably damaging	0.99
IGL02711:Maml2	APN	9	13,620,063 (GRCm38)	missense	probably benign	0.14
IGL03079:Maml2	APN	9	13,621,616 (GRCm38)	unclassified	probably benign
IGL03217:Maml2	APN	9	13,619,999 (GRCm38)	missense	probably damaging	1.00
FR4304:Maml2	UTSW	9	13,621,459 (GRCm38)	small deletion	probably benign
FR4449:Maml2	UTSW	9	13,621,456 (GRCm38)	small deletion	probably benign
PIT4810001:Maml2	UTSW	9	13,620,024 (GRCm38)	missense
R0102:Maml2	UTSW	9	13,705,932 (GRCm38)	synonymous	silent
R0318:Maml2	UTSW	9	13,620,594 (GRCm38)	missense	probably damaging	0.99
R0380:Maml2	UTSW	9	13,621,100 (GRCm38)	nonsense	probably null
R1433:Maml2	UTSW	9	13,706,501 (GRCm38)	missense	probably damaging	1.00
R1449:Maml2	UTSW	9	13,620,684 (GRCm38)	missense	possibly damaging	0.85
R1789:Maml2	UTSW	9	13,697,345 (GRCm38)	missense	probably damaging	1.00
R2173:Maml2	UTSW	9	13,621,616 (GRCm38)	unclassified	probably benign
R2363:Maml2	UTSW	9	13,621,245 (GRCm38)	missense	probably damaging	1.00
R2426:Maml2	UTSW	9	13,706,498 (GRCm38)	missense	probably damaging	1.00
R2880:Maml2	UTSW	9	13,620,597 (GRCm38)	splice site	probably null
R3981:Maml2	UTSW	9	13,621,068 (GRCm38)	missense	possibly damaging	0.80
R4094:Maml2	UTSW	9	13,620,153 (GRCm38)	missense	probably benign	0.22
R4117:Maml2	UTSW	9	13,705,934 (GRCm38)	missense	probably damaging	1.00
R4282:Maml2	UTSW	9	13,620,110 (GRCm38)	missense	possibly damaging	0.93
R4618:Maml2	UTSW	9	13,620,075 (GRCm38)	missense	probably damaging	1.00
R4921:Maml2	UTSW	9	13,621,175 (GRCm38)	missense	probably damaging	1.00
R4957:Maml2	UTSW	9	13,620,276 (GRCm38)	missense	probably damaging	1.00
R5195:Maml2	UTSW	9	13,621,114 (GRCm38)	missense	probably damaging	0.98
R5428:Maml2	UTSW	9	13,705,895 (GRCm38)	missense	probably benign	0.30
R5448:Maml2	UTSW	9	13,706,467 (GRCm38)	missense	probably damaging	0.98
R5450:Maml2	UTSW	9	13,706,467 (GRCm38)	missense	probably damaging	0.98
R5455:Maml2	UTSW	9	13,705,743 (GRCm38)	nonsense	probably null
R5620:Maml2	UTSW	9	13,697,320 (GRCm38)	missense	probably damaging	1.00
R5973:Maml2	UTSW	9	13,621,619 (GRCm38)	unclassified	probably benign
R6009:Maml2	UTSW	9	13,620,998 (GRCm38)	missense	probably benign	0.02
R6054:Maml2	UTSW	9	13,621,399 (GRCm38)	small deletion	probably benign
R6257:Maml2	UTSW	9	13,620,426 (GRCm38)	missense	probably damaging	1.00
R6727:Maml2	UTSW	9	13,621,551 (GRCm38)	unclassified	probably benign
R6824:Maml2	UTSW	9	13,697,217 (GRCm38)	missense	possibly damaging	0.67
R6854:Maml2	UTSW	9	13,705,835 (GRCm38)	missense	possibly damaging	0.59
R6998:Maml2	UTSW	9	13,621,185 (GRCm38)	unclassified	probably benign
R7047:Maml2	UTSW	9	13,620,881 (GRCm38)	unclassified	probably benign
R7233:Maml2	UTSW	9	13,620,771 (GRCm38)	missense
R7326:Maml2	UTSW	9	13,621,607 (GRCm38)	missense
R7612:Maml2	UTSW	9	13,706,485 (GRCm38)	missense	probably benign	0.04
R7652:Maml2	UTSW	9	13,621,649 (GRCm38)	missense
R7699:Maml2	UTSW	9	13,621,089 (GRCm38)	missense
R7803:Maml2	UTSW	9	13,621,276 (GRCm38)	small insertion	probably benign
R7803:Maml2	UTSW	9	13,621,275 (GRCm38)	small insertion	probably benign
R7803:Maml2	UTSW	9	13,621,254 (GRCm38)	small insertion	probably benign
R8425:Maml2	UTSW	9	13,620,117 (GRCm38)	missense
R8810:Maml2	UTSW	9	13,621,622 (GRCm38)	missense
R9277:Maml2	UTSW	9	13,620,576 (GRCm38)	missense
R9359:Maml2	UTSW	9	13,621,673 (GRCm38)	nonsense	probably null
R9403:Maml2	UTSW	9	13,621,673 (GRCm38)	nonsense	probably null
RF015:Maml2	UTSW	9	13,621,456 (GRCm38)	small deletion	probably benign
RF044:Maml2	UTSW	9	13,621,456 (GRCm38)	small deletion	probably benign
X0063:Maml2	UTSW	9	13,620,341 (GRCm38)	missense	probably benign	0.09
Z1177:Maml2	UTSW	9	13,706,590 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATCCCCAGGAGCATTTGTG -3'
(R):5'- CAAAGGCTGGCTTGATAAAGC -3'

Sequencing Primer
(F):5'- CATTCAGTCCACAGGGA -3'
(R):5'- TGCTGAGCTGTCAATGAACC -3'

Posted On

2019-11-12