Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Map3k9'

541903

Institutional Source

Beutler Lab

Gene Symbol

Map3k9

Ensembl Gene

ENSMUSG00000042724

Gene Name

mitogen-activated protein kinase kinase kinase 9

Synonyms

Mlk1

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81721010-81781175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81773003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 159 (D159G)

Ref Sequence

ENSEMBL: ENSMUSP00000041819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035987] [ENSMUST00000222322]

AlphaFold

Q3U1V8

Predicted Effect

probably benign
Transcript: ENSMUST00000035987
AA Change: D159G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: D159G

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
SH3	48	108	1.61e-20	SMART
TyrKc	137	396	6.72e-89	SMART
low complexity region	449	469	N/A	INTRINSIC
low complexity region	573	590	N/A	INTRINSIC
low complexity region	644	657	N/A	INTRINSIC
low complexity region	722	736	N/A	INTRINSIC
low complexity region	749	765	N/A	INTRINSIC
low complexity region	772	783	N/A	INTRINSIC
low complexity region	799	811	N/A	INTRINSIC
low complexity region	901	915	N/A	INTRINSIC
low complexity region	1020	1036	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222322
AA Change: D159G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.1344

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter/null allele exhibit normal development, reproduction and lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	Het

Other mutations in Map3k9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Map3k9	APN	12	81729698	missense	probably benign	0.00
IGL01098:Map3k9	APN	12	81724154	missense	probably damaging	1.00
IGL01122:Map3k9	APN	12	81732126	missense	possibly damaging	0.94
IGL01680:Map3k9	APN	12	81724739	missense	probably benign	0.10
IGL01997:Map3k9	APN	12	81772697	missense	probably damaging	1.00
IGL02178:Map3k9	APN	12	81743837	missense	probably damaging	1.00
IGL02724:Map3k9	APN	12	81724742	missense	probably benign
PIT4366001:Map3k9	UTSW	12	81772761	missense	possibly damaging	0.95
R0530:Map3k9	UTSW	12	81722482	missense	probably benign	0.00
R0541:Map3k9	UTSW	12	81734223	missense	possibly damaging	0.79
R0550:Map3k9	UTSW	12	81725781	missense	probably damaging	1.00
R0799:Map3k9	UTSW	12	81722269	missense	probably benign	0.27
R1730:Map3k9	UTSW	12	81722226	missense	probably damaging	0.99
R1783:Map3k9	UTSW	12	81722226	missense	probably damaging	0.99
R1859:Map3k9	UTSW	12	81724482	missense	possibly damaging	0.82
R1917:Map3k9	UTSW	12	81780790	nonsense	probably null
R3121:Map3k9	UTSW	12	81743924	missense	probably damaging	1.00
R3779:Map3k9	UTSW	12	81743791	splice site	probably benign
R3931:Map3k9	UTSW	12	81772917	missense	probably damaging	0.99
R3951:Map3k9	UTSW	12	81722521	missense	probably benign
R4571:Map3k9	UTSW	12	81734091	missense	probably benign	0.25
R4728:Map3k9	UTSW	12	81722373	missense	probably damaging	0.96
R4857:Map3k9	UTSW	12	81724627	missense	probably benign	0.42
R4882:Map3k9	UTSW	12	81724162	missense	probably damaging	1.00
R5077:Map3k9	UTSW	12	81734077	splice site	probably null
R5369:Map3k9	UTSW	12	81722052	missense	probably damaging	0.98
R5418:Map3k9	UTSW	12	81743817	nonsense	probably null
R5540:Map3k9	UTSW	12	81772813	missense	probably damaging	1.00
R5567:Map3k9	UTSW	12	81732024	missense	possibly damaging	0.67
R5570:Map3k9	UTSW	12	81732024	missense	possibly damaging	0.67
R5696:Map3k9	UTSW	12	81734122	missense	probably benign	0.00
R6539:Map3k9	UTSW	12	81732192	missense	probably damaging	0.98
R6542:Map3k9	UTSW	12	81722254	missense	possibly damaging	0.91
R6816:Map3k9	UTSW	12	81722254	missense	possibly damaging	0.91
R7027:Map3k9	UTSW	12	81730624	missense	probably benign	0.06
R7055:Map3k9	UTSW	12	81724208	missense	probably damaging	0.99
R7082:Map3k9	UTSW	12	81724702	missense	probably damaging	1.00
R7247:Map3k9	UTSW	12	81725830	missense	possibly damaging	0.65
R7424:Map3k9	UTSW	12	81724097	missense	probably benign	0.00
R7476:Map3k9	UTSW	12	81743808	missense	probably damaging	1.00
R7638:Map3k9	UTSW	12	81724732	missense	probably benign	0.00
R8098:Map3k9	UTSW	12	81734114	missense	probably damaging	0.99
R8249:Map3k9	UTSW	12	81780777	missense	unknown
R8356:Map3k9	UTSW	12	81734118	missense	probably damaging	0.98
R8397:Map3k9	UTSW	12	81722362	missense	probably benign	0.13
R8444:Map3k9	UTSW	12	81722196	missense	probably damaging	1.00
R8456:Map3k9	UTSW	12	81734118	missense	probably damaging	0.98
R9025:Map3k9	UTSW	12	81772733	missense	probably damaging	1.00
R9090:Map3k9	UTSW	12	81722487	missense	probably benign	0.05
R9097:Map3k9	UTSW	12	81773081	missense	possibly damaging	0.84
R9271:Map3k9	UTSW	12	81722487	missense	probably benign	0.05
R9419:Map3k9	UTSW	12	81780567	missense	probably damaging	1.00
R9549:Map3k9	UTSW	12	81724481	missense	probably benign	0.06
R9596:Map3k9	UTSW	12	81730630	missense	probably damaging	1.00
X0025:Map3k9	UTSW	12	81724412	missense	possibly damaging	0.58
Z1176:Map3k9	UTSW	12	81772782	missense	possibly damaging	0.76
Z1177:Map3k9	UTSW	12	81722279	missense	probably damaging	0.99
Z1177:Map3k9	UTSW	12	81780846	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACAATACTCTGTTCAGAGGCC -3'
(R):5'- AGGTCCCGTTTACCTACCATG -3'

Sequencing Primer
(F):5'- TGTTCAGAGGCCCTCCAC -3'
(R):5'- ACCTACCATGGCTTGTCTGC -3'

Posted On

2018-11-28