Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01122:Map3k9'

52479

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k9

Ensembl Gene

ENSMUSG00000042724

Gene Name

mitogen-activated protein kinase kinase kinase 9

Synonyms

Mlk1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01122

Quality Score

Status

Chromosome

Chromosomal Location

81767784-81827949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81778900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 471 (D471G)

Ref Sequence

ENSEMBL: ENSMUSP00000152201 (fasta)

Gene Model

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

AlphaFold

Q3U1V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035987
AA Change: D471G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: D471G

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: D471G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223292

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap6	A	T	X: 168,029,666 (GRCm39)	K142N	possibly damaging	Het
Atp13a1	T	A	8: 70,251,555 (GRCm39)	L540Q	probably damaging	Het
Cacna1a	T	C	8: 85,341,422 (GRCm39)		probably null	Het
Cops6	A	G	5: 138,160,635 (GRCm39)	K129E	probably benign	Het
Cracd	T	C	5: 77,018,522 (GRCm39)	*1289Q	probably null	Het
Cyp11a1	T	C	9: 57,923,589 (GRCm39)	I98T	probably damaging	Het
Cyp2c65	A	G	19: 39,060,621 (GRCm39)		probably null	Het
Dapl1	A	T	2: 59,324,839 (GRCm39)	K30I	probably damaging	Het
Dlg2	A	G	7: 92,091,816 (GRCm39)	M894V	possibly damaging	Het
Eme2	C	T	17: 25,112,320 (GRCm39)	A202T	possibly damaging	Het
Fbxw22	A	T	9: 109,215,739 (GRCm39)	S170T	probably damaging	Het
Havcr2	A	G	11: 46,347,254 (GRCm39)	Y77C	probably damaging	Het
Ivd	T	A	2: 118,707,361 (GRCm39)		probably benign	Het
Med12	T	C	X: 100,325,149 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,338,264 (GRCm39)	R445W	probably damaging	Het
Mptx1	A	G	1: 174,159,964 (GRCm39)	Y90C	probably damaging	Het
Nek1	G	A	8: 61,574,000 (GRCm39)	V1083I	possibly damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Or4a72	A	G	2: 89,405,767 (GRCm39)	I101T	possibly damaging	Het
Pbdc1	T	C	X: 104,126,297 (GRCm39)		probably benign	Het
Phlpp1	G	T	1: 106,101,166 (GRCm39)	R478L	possibly damaging	Het
Ppp2r3c	C	T	12: 55,344,587 (GRCm39)	G127D	probably benign	Het
Ppp2r3d	A	G	9: 101,088,844 (GRCm39)	L493P	probably benign	Het
Pramel24	A	G	4: 143,454,971 (GRCm39)	D423G	probably benign	Het
Psap	T	C	10: 60,135,253 (GRCm39)	V303A	probably benign	Het
Rdh13	T	C	7: 4,445,694 (GRCm39)	K60R	probably benign	Het
Scaf4	A	G	16: 90,045,518 (GRCm39)	S528P	unknown	Het
Sfmbt1	A	G	14: 30,532,268 (GRCm39)	I543V	probably damaging	Het
Speg	T	C	1: 75,386,679 (GRCm39)	L1271P	probably damaging	Het
Stard9	C	A	2: 120,528,960 (GRCm39)	T1739K	possibly damaging	Het
Tas2r134	G	T	2: 51,517,671 (GRCm39)	C50F	probably damaging	Het
Tmprss11b	G	T	5: 86,811,376 (GRCm39)	T186K	probably benign	Het
U2surp	G	T	9: 95,372,287 (GRCm39)	Q291K	probably benign	Het
Ulk4	A	G	9: 120,997,358 (GRCm39)	I738T	possibly damaging	Het
Urb1	A	T	16: 90,601,346 (GRCm39)	S142T	possibly damaging	Het
Vmn2r112	T	A	17: 22,821,988 (GRCm39)	I222N	probably benign	Het
Zmym4	T	C	4: 126,758,045 (GRCm39)	N1503S	probably damaging	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
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
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

Posted On

2013-06-21