Mutagenetix > Incidental Mutation

Incidental Mutation 'R3931:Map3k9'

308477

Institutional Source

Beutler Lab

Gene Symbol

Map3k9

Ensembl Gene

ENSMUSG00000042724

Gene Name

mitogen-activated protein kinase kinase kinase 9

Synonyms

Mlk1

MMRRC Submission

040918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81767784-81827949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81819691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 188 (F188L)

Ref Sequence

ENSEMBL: ENSMUSP00000041819 (fasta)

Gene Model

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

AlphaFold

Q3U1V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035987
AA Change: F188L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: F188L

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 damaging
Transcript: ENSMUST00000222322
AA Change: F188L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223292

Meta Mutation Damage Score

0.6187

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (30/30)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	C	6: 92,811,420 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,348 (GRCm39)	L159P	probably damaging	Het
Ccnd2	A	G	6: 127,107,422 (GRCm39)	I249T	probably damaging	Het
Cerk	G	T	15: 86,039,311 (GRCm39)	C193*	probably null	Het
Chrna2	A	G	14: 66,387,216 (GRCm39)	E454G	probably benign	Het
Clnk	T	C	5: 38,925,412 (GRCm39)	T130A	probably benign	Het
Dcbld2	T	C	16: 58,285,701 (GRCm39)	L620P	probably damaging	Het
Dhx29	T	A	13: 113,095,499 (GRCm39)	V942E	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnai1	G	A	4: 41,604,229 (GRCm39)	C212Y	probably damaging	Het
Dpep1	A	G	8: 123,925,518 (GRCm39)	D57G	possibly damaging	Het
Gfm2	G	A	13: 97,311,532 (GRCm39)	V701I	probably benign	Het
Grm1	C	T	10: 10,595,622 (GRCm39)	A669T	probably benign	Het
Hsd3b3	C	T	3: 98,649,492 (GRCm39)	G277D	probably damaging	Het
Hsf5	A	G	11: 87,522,508 (GRCm39)	Y367C	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lipo4	C	T	19: 33,480,619 (GRCm39)	V250I	probably benign	Het
Lrrc14	T	C	15: 76,597,765 (GRCm39)	V165A	probably benign	Het
Mpo	A	G	11: 87,691,866 (GRCm39)	Y433C	probably damaging	Het
Nsd2	A	G	5: 34,003,461 (GRCm39)	K185E	probably benign	Het
Or6n2	T	A	1: 173,897,147 (GRCm39)	F94L	probably damaging	Het
Oxct1	T	A	15: 4,066,601 (GRCm39)	N72K	possibly damaging	Het
Ptpn12	A	G	5: 21,206,321 (GRCm39)	I324T	probably benign	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Tpr	T	A	1: 150,311,655 (GRCm39)	V1811E	probably damaging	Het
Trpc4	A	G	3: 54,225,516 (GRCm39)	D871G	probably damaging	Het
Upf2	A	G	2: 6,051,821 (GRCm39)	E1161G	unknown	Het
Zp2	T	C	7: 119,731,580 (GRCm39)		probably benign	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
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
R7247:Map3k9	UTSW	12	81,772,604 (GRCm39)	missense	possibly damaging	0.65
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'- AGTTCATCCCTCTGGCGATC -3'
(R):5'- TCCCAGTAGATTGCTGATATGC -3'

Sequencing Primer
(F):5'- ATCTGCACGGCCCAGTTC -3'
(R):5'- CCAGTAGATTGCTGATATGCTGCTC -3'

Posted On

2015-04-17