Mutagenetix > Incidental Mutation

Incidental Mutation 'R1859:Map3k9'

204250

Institutional Source

Beutler Lab

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 #

R1859 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81767784-81827949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81771256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 800 (S800R)

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: S777R

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: S777R

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

noncoding transcript
Transcript: ENSMUST00000221438

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222322
AA Change: S800R

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223292

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,637,268 (GRCm39)		probably benign	Het
Adcy10	A	G	1: 165,349,530 (GRCm39)	E467G	probably damaging	Het
Alkbh8	A	G	9: 3,385,499 (GRCm39)	D597G	probably benign	Het
Alpk1	T	A	3: 127,474,749 (GRCm39)	H418L	possibly damaging	Het
Ano5	G	T	7: 51,196,581 (GRCm39)	V138L	probably damaging	Het
Aspg	T	A	12: 112,087,606 (GRCm39)	I319K	possibly damaging	Het
Atp9b	T	C	18: 80,793,135 (GRCm39)	T970A	possibly damaging	Het
Brd10	A	C	19: 29,732,323 (GRCm39)	C230G	possibly damaging	Het
C4b	T	A	17: 34,954,527 (GRCm39)	M881L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdca5	T	C	19: 6,140,124 (GRCm39)	V95A	possibly damaging	Het
Cds2	A	G	2: 132,144,115 (GRCm39)	Y297C	probably damaging	Het
Celsr2	C	T	3: 108,303,946 (GRCm39)	G2371S	probably damaging	Het
Cemip2	T	C	19: 21,825,341 (GRCm39)	V1213A	possibly damaging	Het
Chd5	T	A	4: 152,464,980 (GRCm39)	I1557N	probably benign	Het
Cntn5	C	T	9: 9,972,839 (GRCm39)	E266K	probably damaging	Het
Crtam	G	A	9: 40,884,900 (GRCm39)	T363M	possibly damaging	Het
Dnah2	A	G	11: 69,328,712 (GRCm39)	S3298P	probably damaging	Het
Dok1	A	T	6: 83,009,226 (GRCm39)	Y209N	probably damaging	Het
Dpp10	T	C	1: 123,281,333 (GRCm39)	D561G	possibly damaging	Het
Drosha	A	G	15: 12,878,804 (GRCm39)	K710R	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Ercc6	T	C	14: 32,248,735 (GRCm39)	S429P	probably damaging	Het
Fam135a	A	T	1: 24,069,306 (GRCm39)	V521E	probably damaging	Het
Fbxl7	A	T	15: 26,543,279 (GRCm39)	L456Q	probably damaging	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Foxc2	G	T	8: 121,843,364 (GRCm39)	R4L	probably damaging	Het
Glyctk	C	T	9: 106,034,731 (GRCm39)	V112I	probably benign	Het
Guf1	G	T	5: 69,725,803 (GRCm39)	G481*	probably null	Het
Heatr1	T	C	13: 12,418,040 (GRCm39)	L324S	probably damaging	Het
Hectd1	A	G	12: 51,853,350 (GRCm39)	L57P	probably damaging	Het
Hmcn1	A	T	1: 150,532,944 (GRCm39)	C3080S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1	T	A	19: 34,624,944 (GRCm39)	F27I	probably benign	Het
Ift20	G	T	11: 78,430,860 (GRCm39)	E68*	probably null	Het
Itsn1	A	G	16: 91,686,042 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,553,006 (GRCm39)	L38Q	probably damaging	Het
Lama2	A	T	10: 26,907,078 (GRCm39)	M2361K	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mef2a	A	G	7: 66,915,766 (GRCm39)	S179P	probably damaging	Het
Micall1	A	G	15: 79,007,145 (GRCm39)		probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Mpp7	A	T	18: 7,350,967 (GRCm39)	*577K	probably null	Het
Msh4	G	T	3: 153,611,517 (GRCm39)	H35Q	probably benign	Het
Mst1	G	A	9: 107,961,545 (GRCm39)	V601I	probably benign	Het
Myh10	T	A	11: 68,636,239 (GRCm39)	N246K	probably benign	Het
Myom3	C	A	4: 135,506,707 (GRCm39)	N493K	probably benign	Het
Mypn	T	C	10: 62,981,969 (GRCm39)	D537G	probably benign	Het
Ncan	A	T	8: 70,567,998 (GRCm39)	M38K	possibly damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nos1	A	T	5: 118,043,527 (GRCm39)	N601Y	possibly damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Or10q12	T	A	19: 13,746,088 (GRCm39)	Y127*	probably null	Het
Or13a17	T	A	7: 140,271,571 (GRCm39)	V251E	possibly damaging	Het
Or13c7b	A	T	4: 43,820,779 (GRCm39)	I194N	possibly damaging	Het
Or2y17	T	C	11: 49,232,211 (GRCm39)	L284P	probably damaging	Het
Or8h9	T	C	2: 86,789,425 (GRCm39)	I126V	probably damaging	Het
Parp4	T	C	14: 56,886,372 (GRCm39)	V1817A	unknown	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Ppp1r3c	T	C	19: 36,711,011 (GRCm39)	N253S	probably damaging	Het
Prdm5	A	G	6: 65,808,263 (GRCm39)	I42V	probably benign	Het
Prom2	T	G	2: 127,383,017 (GRCm39)	Q75P	probably damaging	Het
Ptpn23	T	C	9: 110,217,938 (GRCm39)	D669G	possibly damaging	Het
Rag1	T	C	2: 101,474,407 (GRCm39)	D245G	probably benign	Het
Rpl22l1	T	A	3: 28,860,747 (GRCm39)		probably null	Het
Sars2	T	C	7: 28,443,737 (GRCm39)	V113A	probably damaging	Het
Sbno2	T	A	10: 79,894,473 (GRCm39)	K1067*	probably null	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Slc4a11	A	T	2: 130,529,932 (GRCm39)	M282K	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Sparc	A	T	11: 55,297,334 (GRCm39)		probably null	Het
Thra	T	A	11: 98,646,977 (GRCm39)	C33S	probably damaging	Het
Trrap	A	T	5: 144,767,761 (GRCm39)	T2293S	probably benign	Het
Ttn	T	A	2: 76,724,989 (GRCm39)		probably benign	Het
Vat1l	T	A	8: 114,998,041 (GRCm39)	V195E	probably damaging	Het
Vmn1r60	T	A	7: 5,547,549 (GRCm39)	I184F	possibly damaging	Het
Wdfy4	A	G	14: 32,825,940 (GRCm39)	I1192T	probably damaging	Het
Zbtb10	T	C	3: 9,345,446 (GRCm39)	S737P	possibly damaging	Het
Zfp553	A	G	7: 126,834,517 (GRCm39)	E24G	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCATTTCATACACCACGATC -3'
(R):5'- ATGAGGAACCTACCCCAGTC -3'

Sequencing Primer
(F):5'- GATCTCATCACTGTCAGAGCG -3'
(R):5'- AGTACCCCTCAGCTGACG -3'

Posted On

2014-06-23