Mutagenetix > Incidental Mutation

Incidental Mutation 'R7247:Map3k9'

563630

Institutional Source

Beutler Lab

Gene Symbol

Map3k9

Ensembl Gene

ENSMUSG00000042724

Gene Name

mitogen-activated protein kinase kinase kinase 9

Synonyms

Mlk1

MMRRC Submission

045310-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81767784-81827949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81772604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 610 (K610E)

Ref Sequence

ENSEMBL: ENSMUSP00000041819 (fasta)

Gene Model

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

AlphaFold

Q3U1V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035987
AA Change: K610E

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: K610E

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

possibly damaging
Transcript: ENSMUST00000222322
AA Change: K633E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,732 (GRCm39)	E865G	probably benign	Het
Actrt2	A	C	4: 154,751,880 (GRCm39)	D85E	probably benign	Het
Ankrd55	A	G	13: 112,472,787 (GRCm39)	E153G	probably damaging	Het
Arfgef3	T	A	10: 18,501,139 (GRCm39)	H1037L	probably benign	Het
Camk2a	A	G	18: 61,076,277 (GRCm39)	Y85C	unknown	Het
Caprin1	A	T	2: 103,609,819 (GRCm39)	V153E	possibly damaging	Het
Caskin2	G	A	11: 115,692,722 (GRCm39)	P688S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc116	T	C	16: 16,957,555 (GRCm39)	T535A	possibly damaging	Het
Cdh9	G	A	15: 16,778,341 (GRCm39)	R52H	probably damaging	Het
Cdk5rap2	A	G	4: 70,255,666 (GRCm39)	L406S	probably damaging	Het
Cep350	A	G	1: 155,786,499 (GRCm39)	M1449T	probably damaging	Het
Chst8	T	A	7: 34,375,361 (GRCm39)	K159N	probably damaging	Het
Dcdc2a	A	G	13: 25,286,374 (GRCm39)	H136R	probably benign	Het
Dip2a	C	T	10: 76,108,366 (GRCm39)		probably null	Het
Dock2	G	A	11: 34,605,340 (GRCm39)	R260*	probably null	Het
Dscam	A	G	16: 96,622,008 (GRCm39)	V481A	probably damaging	Het
E130308A19Rik	A	G	4: 59,690,502 (GRCm39)	D112G	probably damaging	Het
Ezh2	T	C	6: 47,510,708 (GRCm39)	K634E	probably damaging	Het
Fcgr2b	A	G	1: 170,793,269 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,851,365 (GRCm39)	V94A	possibly damaging	Het
Gpr156	C	A	16: 37,768,103 (GRCm39)	N6K	probably damaging	Het
Gsdmc2	A	T	15: 63,705,183 (GRCm39)	F177I	probably benign	Het
Igkv4-54	T	A	6: 69,608,842 (GRCm39)	S26C	probably damaging	Het
Iglc3	T	C	16: 18,884,191 (GRCm39)	H80R		Het
Immp1l	G	A	2: 105,767,401 (GRCm39)	G87S	probably damaging	Het
Itgav	A	T	2: 83,555,179 (GRCm39)	D34V	probably damaging	Het
Lrp1b	G	A	2: 41,159,224 (GRCm39)	T1686I		Het
Ltn1	T	C	16: 87,206,275 (GRCm39)	D935G	probably benign	Het
Map3k8	T	C	18: 4,334,036 (GRCm39)	D352G	probably damaging	Het
Marchf4	G	T	1: 72,491,637 (GRCm39)	Y211*	probably null	Het
Marf1	A	T	16: 13,944,957 (GRCm39)	L1304Q	probably damaging	Het
Matcap1	A	T	8: 106,011,331 (GRCm39)	Y268N	probably benign	Het
Mecom	A	G	3: 30,194,505 (GRCm39)	V5A	unknown	Het
Mep1a	A	T	17: 43,785,995 (GRCm39)	V711D	possibly damaging	Het
Naca	T	A	10: 127,878,467 (GRCm39)	D1166E	unknown	Het
Neb	G	T	2: 52,148,753 (GRCm39)	P2598Q	probably damaging	Het
Notch4	A	T	17: 34,791,491 (GRCm39)	E546V	probably damaging	Het
Nudt18	A	G	14: 70,815,422 (GRCm39)	T12A	unknown	Het
Nvl	A	C	1: 180,939,851 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,994,144 (GRCm39)	C1579*	probably null	Het
Or4b13	G	A	2: 90,083,165 (GRCm39)	P56S	probably damaging	Het
Or51e2	T	C	7: 102,391,551 (GRCm39)	I220V	probably damaging	Het
Or6c5b	T	C	10: 129,246,051 (GRCm39)	V272A	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8g19	T	A	9: 39,056,153 (GRCm39)	Y252*	probably null	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Paqr9	A	G	9: 95,442,246 (GRCm39)	T79A	possibly damaging	Het
Plec	A	T	15: 76,061,543 (GRCm39)	V2798E	probably damaging	Het
Potefam3f	A	G	8: 20,479,022 (GRCm39)	N10S		Het
Ptpn4	A	T	1: 119,617,764 (GRCm39)	*557R	probably null	Het
Ptprt	T	C	2: 161,375,443 (GRCm39)	E1379G	probably benign	Het
Rad18	G	T	6: 112,642,286 (GRCm39)	T327K	possibly damaging	Het
Rps2	T	A	17: 24,939,554 (GRCm39)	I75N	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,021 (GRCm39)	R39W	probably damaging	Het
Sh3d21	A	G	4: 126,045,908 (GRCm39)	F307S	probably benign	Het
Snap91	A	G	9: 86,674,669 (GRCm39)	V507A	unknown	Het
Srgap1	T	A	10: 121,705,695 (GRCm39)	Y243F	probably damaging	Het
Stim1	T	A	7: 102,070,739 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,416,962 (GRCm38)	V1161A	probably benign	Het
Tpcn1	T	C	5: 120,723,315 (GRCm39)	D16G	possibly damaging	Het
Trank1	A	T	9: 111,196,580 (GRCm39)	I1535F	probably damaging	Het
Txnrd2	T	C	16: 18,274,822 (GRCm39)	F278L	probably damaging	Het
Ufl1	A	T	4: 25,254,637 (GRCm39)	D579E	probably damaging	Het
Vps45	T	C	3: 95,948,717 (GRCm39)	N346S	probably benign	Het
Vps51	T	A	19: 6,127,419 (GRCm39)		probably benign	Het
Zfp536	T	C	7: 37,268,631 (GRCm39)	N262D	probably benign	Het
Zmynd10	A	G	9: 107,425,976 (GRCm39)	I103M	possibly damaging	Het
Zswim1	C	T	2: 164,667,719 (GRCm39)	H324Y	possibly damaging	Het
Zxdc	T	C	6: 90,361,155 (GRCm39)	W507R	unknown	Het

Other mutations in Map3k9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Map3k9	APN	12	81,776,472 (GRCm39)	missense	probably benign	0.00
IGL01098:Map3k9	APN	12	81,770,928 (GRCm39)	missense	probably damaging	1.00
IGL01122:Map3k9	APN	12	81,778,900 (GRCm39)	missense	possibly damaging	0.94
IGL01680:Map3k9	APN	12	81,771,513 (GRCm39)	missense	probably benign	0.10
IGL01997:Map3k9	APN	12	81,819,471 (GRCm39)	missense	probably damaging	1.00
IGL02178:Map3k9	APN	12	81,790,611 (GRCm39)	missense	probably damaging	1.00
IGL02724:Map3k9	APN	12	81,771,516 (GRCm39)	missense	probably benign
PIT4366001:Map3k9	UTSW	12	81,819,535 (GRCm39)	missense	possibly damaging	0.95
R0530:Map3k9	UTSW	12	81,769,256 (GRCm39)	missense	probably benign	0.00
R0541:Map3k9	UTSW	12	81,780,997 (GRCm39)	missense	possibly damaging	0.79
R0550:Map3k9	UTSW	12	81,772,555 (GRCm39)	missense	probably damaging	1.00
R0799:Map3k9	UTSW	12	81,769,043 (GRCm39)	missense	probably benign	0.27
R1730:Map3k9	UTSW	12	81,769,000 (GRCm39)	missense	probably damaging	0.99
R1783:Map3k9	UTSW	12	81,769,000 (GRCm39)	missense	probably damaging	0.99
R1859:Map3k9	UTSW	12	81,771,256 (GRCm39)	missense	possibly damaging	0.82
R1917:Map3k9	UTSW	12	81,827,564 (GRCm39)	nonsense	probably null
R3121:Map3k9	UTSW	12	81,790,698 (GRCm39)	missense	probably damaging	1.00
R3779:Map3k9	UTSW	12	81,790,565 (GRCm39)	splice site	probably benign
R3931:Map3k9	UTSW	12	81,819,691 (GRCm39)	missense	probably damaging	0.99
R3951:Map3k9	UTSW	12	81,769,295 (GRCm39)	missense	probably benign
R4571:Map3k9	UTSW	12	81,780,865 (GRCm39)	missense	probably benign	0.25
R4728:Map3k9	UTSW	12	81,769,147 (GRCm39)	missense	probably damaging	0.96
R4857:Map3k9	UTSW	12	81,771,401 (GRCm39)	missense	probably benign	0.42
R4882:Map3k9	UTSW	12	81,770,936 (GRCm39)	missense	probably damaging	1.00
R5077:Map3k9	UTSW	12	81,780,851 (GRCm39)	splice site	probably null
R5369:Map3k9	UTSW	12	81,768,826 (GRCm39)	missense	probably damaging	0.98
R5418:Map3k9	UTSW	12	81,790,591 (GRCm39)	nonsense	probably null
R5540:Map3k9	UTSW	12	81,819,587 (GRCm39)	missense	probably damaging	1.00
R5567:Map3k9	UTSW	12	81,778,798 (GRCm39)	missense	possibly damaging	0.67
R5570:Map3k9	UTSW	12	81,778,798 (GRCm39)	missense	possibly damaging	0.67
R5696:Map3k9	UTSW	12	81,780,896 (GRCm39)	missense	probably benign	0.00
R6539:Map3k9	UTSW	12	81,778,966 (GRCm39)	missense	probably damaging	0.98
R6542:Map3k9	UTSW	12	81,769,028 (GRCm39)	missense	possibly damaging	0.91
R6816:Map3k9	UTSW	12	81,769,028 (GRCm39)	missense	possibly damaging	0.91
R6964:Map3k9	UTSW	12	81,819,777 (GRCm39)	missense	probably benign	0.00
R7027:Map3k9	UTSW	12	81,777,398 (GRCm39)	missense	probably benign	0.06
R7055:Map3k9	UTSW	12	81,770,982 (GRCm39)	missense	probably damaging	0.99
R7082:Map3k9	UTSW	12	81,771,476 (GRCm39)	missense	probably damaging	1.00
R7424:Map3k9	UTSW	12	81,770,871 (GRCm39)	missense	probably benign	0.00
R7476:Map3k9	UTSW	12	81,790,582 (GRCm39)	missense	probably damaging	1.00
R7638:Map3k9	UTSW	12	81,771,506 (GRCm39)	missense	probably benign	0.00
R8098:Map3k9	UTSW	12	81,780,888 (GRCm39)	missense	probably damaging	0.99
R8249:Map3k9	UTSW	12	81,827,551 (GRCm39)	missense	unknown
R8356:Map3k9	UTSW	12	81,780,892 (GRCm39)	missense	probably damaging	0.98
R8397:Map3k9	UTSW	12	81,769,136 (GRCm39)	missense	probably benign	0.13
R8444:Map3k9	UTSW	12	81,768,970 (GRCm39)	missense	probably damaging	1.00
R8456:Map3k9	UTSW	12	81,780,892 (GRCm39)	missense	probably damaging	0.98
R9025:Map3k9	UTSW	12	81,819,507 (GRCm39)	missense	probably damaging	1.00
R9090:Map3k9	UTSW	12	81,769,261 (GRCm39)	missense	probably benign	0.05
R9097:Map3k9	UTSW	12	81,819,855 (GRCm39)	missense	possibly damaging	0.84
R9271:Map3k9	UTSW	12	81,769,261 (GRCm39)	missense	probably benign	0.05
R9419:Map3k9	UTSW	12	81,827,341 (GRCm39)	missense	probably damaging	1.00
R9549:Map3k9	UTSW	12	81,771,255 (GRCm39)	missense	probably benign	0.06
R9596:Map3k9	UTSW	12	81,777,404 (GRCm39)	missense	probably damaging	1.00
X0025:Map3k9	UTSW	12	81,771,186 (GRCm39)	missense	possibly damaging	0.58
Z1176:Map3k9	UTSW	12	81,819,556 (GRCm39)	missense	possibly damaging	0.76
Z1177:Map3k9	UTSW	12	81,827,620 (GRCm39)	missense	unknown
Z1177:Map3k9	UTSW	12	81,769,053 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGAATCCTTAAACAACACTGGAAG -3'
(R):5'- ATTCCATAGCATGTGAGGGGC -3'

Sequencing Primer
(F):5'- AGTCTAGCCAAGAATTCTCTAAGG -3'
(R):5'- TGAGGGGCTCGGTGAAACC -3'

Posted On

2019-06-26