Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01997:Map3k9'

182117

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 #

IGL01997

Quality Score

Status

Chromosome

Chromosomal Location

81767784-81827949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81819471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 261 (D261G)

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: D261G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: D261G

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: D261G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	G	A	1: 179,583,027 (GRCm39)	T83I	probably damaging	Het
Aoah	A	T	13: 21,184,108 (GRCm39)	M391L	probably benign	Het
Apc	A	G	18: 34,448,476 (GRCm39)	T1757A	probably benign	Het
B4galt5	A	G	2: 167,143,261 (GRCm39)	Y388H	probably benign	Het
Cyp3a25	A	T	5: 145,931,766 (GRCm39)	M114K	possibly damaging	Het
Dcbld1	A	G	10: 52,193,206 (GRCm39)	E246G	probably damaging	Het
Fstl4	T	A	11: 53,053,881 (GRCm39)	Y404*	probably null	Het
Gnat3	G	T	5: 18,204,721 (GRCm39)	E125*	probably null	Het
Hspa5	C	T	2: 34,662,327 (GRCm39)		probably benign	Het
Krt72	A	G	15: 101,693,315 (GRCm39)	S200P	probably damaging	Het
Mab21l3	G	A	3: 101,725,955 (GRCm39)	T347I	probably damaging	Het
Map2k7	A	G	8: 4,293,442 (GRCm39)	E104G	probably benign	Het
Mepe	C	T	5: 104,485,466 (GRCm39)	P202L	probably damaging	Het
Mill1	G	A	7: 17,989,814 (GRCm39)	G32D	probably damaging	Het
Mmp20	T	G	9: 7,639,261 (GRCm39)	M143R	probably benign	Het
Mms19	A	T	19: 41,944,970 (GRCm39)	L302H	probably damaging	Het
Myh13	T	A	11: 67,257,992 (GRCm39)	I1728K	probably benign	Het
Nsun2	C	T	13: 69,771,365 (GRCm39)	P290L	probably damaging	Het
Nwd2	A	T	5: 63,961,938 (GRCm39)	R507S	probably damaging	Het
Os9	T	A	10: 126,955,312 (GRCm39)	H147L	probably benign	Het
Piezo1	T	C	8: 123,215,070 (GRCm39)		probably benign	Het
Plekhf1	A	T	7: 37,920,752 (GRCm39)	V272D	probably damaging	Het
Pnisr	T	C	4: 21,871,537 (GRCm39)	I419T	possibly damaging	Het
Ppp1r3d	G	T	2: 178,055,447 (GRCm39)	T185K	possibly damaging	Het
Ppp2r2a	C	T	14: 67,253,968 (GRCm39)	S400N	probably benign	Het
Rpl21	T	C	5: 146,772,418 (GRCm39)	I96T	probably benign	Het
S1pr3	C	T	13: 51,573,751 (GRCm39)	R311W	probably damaging	Het
Senp5	T	C	16: 31,782,288 (GRCm39)	K736R	probably damaging	Het
Slfn9	T	C	11: 82,878,503 (GRCm39)	I209V	possibly damaging	Het
Traf3ip1	T	A	1: 91,435,292 (GRCm39)		probably null	Het
Tyk2	A	G	9: 21,021,790 (GRCm39)	F879L	probably damaging	Het
Vmn2r53	T	C	7: 12,316,373 (GRCm39)	D482G	possibly damaging	Het
Vmn2r65	A	G	7: 84,589,978 (GRCm39)	F646S	probably damaging	Het
Vps13b	T	A	15: 35,709,370 (GRCm39)	S1772R	probably damaging	Het
Vwde	C	T	6: 13,215,705 (GRCm39)	C117Y	probably damaging	Het
Zfyve26	T	C	12: 79,291,174 (GRCm39)	I2144V	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
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

2014-05-07