Mutagenetix > Incidental Mutation

Incidental Mutation 'R7497:Map3k21'

581143

Institutional Source

Beutler Lab

Gene Symbol

Map3k21

Ensembl Gene

ENSMUSG00000031853

Gene Name

mitogen-activated protein kinase kinase kinase 21

Synonyms

BC021891

MMRRC Submission

045570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126637189-126674179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126654340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 386 (E386D)

Ref Sequence

ENSEMBL: ENSMUSP00000034316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034316]

AlphaFold

Q8VDG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034316
AA Change: E386D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034316
Gene: ENSMUSG00000031853
AA Change: E386D

Domain	Start	End	E-Value	Type
SH3	27	87	1.1e-18	SMART
TyrKc	110	382	6.04e-82	SMART
coiled coil region	402	474	N/A	INTRINSIC
low complexity region	478	492	N/A	INTRINSIC
low complexity region	661	677	N/A	INTRINSIC
low complexity region	740	758	N/A	INTRINSIC
low complexity region	766	788	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,075,379 (GRCm39)	I145F	probably benign	Het
Acvr2b	T	A	9: 119,262,352 (GRCm39)	V455E	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Agap2	T	C	10: 126,926,834 (GRCm39)	V977A	probably damaging	Het
Aph1b	A	C	9: 66,701,401 (GRCm39)	S79A	probably damaging	Het
Atm	G	A	9: 53,423,191 (GRCm39)	S645L	probably benign	Het
Cdh11	T	C	8: 103,400,456 (GRCm39)	R171G	probably benign	Het
Ces2f	T	A	8: 105,681,330 (GRCm39)	D556E	probably benign	Het
Cfap210	A	C	2: 69,588,792 (GRCm39)	N439K	probably benign	Het
Cyp26b1	C	A	6: 84,553,964 (GRCm39)	V218L	possibly damaging	Het
Diaph1	T	C	18: 38,028,353 (GRCm39)		probably null	Het
Dock1	A	G	7: 134,367,003 (GRCm39)	I482V	probably benign	Het
Dok4	A	T	8: 95,594,053 (GRCm39)	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,036,028 (GRCm39)	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,066,558 (GRCm39)	V157E	probably damaging	Het
Efcab3	T	C	11: 104,653,516 (GRCm39)		probably null	Het
Eif2a	C	A	3: 58,456,102 (GRCm39)	P367Q	probably damaging	Het
Elp2	C	T	18: 24,744,985 (GRCm39)	R102C	probably damaging	Het
Erich2	T	C	2: 70,364,666 (GRCm39)	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flacc1	T	A	1: 58,717,467 (GRCm39)	D148V	probably damaging	Het
Gadl1	A	T	9: 115,903,155 (GRCm39)	I495L	probably benign	Het
Gcnt4	A	G	13: 97,083,468 (GRCm39)	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,550,887 (GRCm39)	K21E	unknown	Het
Gm57859	T	A	11: 113,583,223 (GRCm39)	W517R	probably damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Gp2	C	T	7: 119,053,829 (GRCm39)	C44Y	probably damaging	Het
Hcar2	C	T	5: 124,003,249 (GRCm39)	V85I	probably benign	Het
Hira	T	C	16: 18,770,829 (GRCm39)	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,477,156 (GRCm39)	T49S	probably damaging	Het
Ints1	C	T	5: 139,754,731 (GRCm39)	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,374,404 (GRCm39)	L909R	probably damaging	Het
Klkb1	T	A	8: 45,747,827 (GRCm39)		probably benign	Het
Krit1	A	G	5: 3,862,349 (GRCm39)	H168R	possibly damaging	Het
Muc16	C	T	9: 18,556,385 (GRCm39)	E3303K	unknown	Het
Muc5b	T	G	7: 141,415,250 (GRCm39)	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,104,983 (GRCm39)	L189P		Het
Nlrc5	T	C	8: 95,248,598 (GRCm39)	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,071,257 (GRCm39)	K402R	probably benign	Het
Or4b1b	T	A	2: 90,112,098 (GRCm39)	T274S	possibly damaging	Het
Or4k15	T	A	14: 50,364,952 (GRCm39)	L306Q	probably benign	Het
Or52s19	T	C	7: 103,008,219 (GRCm39)	M61V	probably damaging	Het
Or8u8	T	C	2: 86,012,417 (GRCm39)	I13V	probably benign	Het
Pnma8b	A	G	7: 16,678,874 (GRCm39)		probably benign	Het
Pnpt1	A	T	11: 29,080,860 (GRCm39)	M35L	probably benign	Het
Postn	A	G	3: 54,270,091 (GRCm39)	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775 (GRCm39)	D110A	probably damaging	Het
Pptc7	G	A	5: 122,422,942 (GRCm39)	V71M	possibly damaging	Het
Prdm11	T	A	2: 92,843,052 (GRCm39)	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,436,841 (GRCm39)	L613P	probably damaging	Het
Ryr3	T	C	2: 112,560,818 (GRCm39)	D2981G	probably benign	Het
Sbf2	C	A	7: 110,213,923 (GRCm39)	E16*	probably null	Het
Scara3	T	C	14: 66,168,651 (GRCm39)	E322G	probably damaging	Het
Sema5b	T	A	16: 35,481,700 (GRCm39)	C893S	probably damaging	Het
Setdb1	T	C	3: 95,249,139 (GRCm39)	D323G	probably damaging	Het
Slc19a3	T	C	1: 82,991,649 (GRCm39)	Y453C	probably damaging	Het
Snx5	T	C	2: 144,099,894 (GRCm39)	K137E	probably damaging	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Taok2	G	A	7: 126,474,050 (GRCm39)	T352I	probably damaging	Het
Ttc3	C	A	16: 94,219,541 (GRCm39)	R489S	possibly damaging	Het
Usp12	A	T	5: 146,689,264 (GRCm39)		probably null	Het
Usp16	T	A	16: 87,263,174 (GRCm39)	C125*	probably null	Het
Vmn2r106	C	T	17: 20,488,201 (GRCm39)	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,843 (GRCm39)	I2832K	probably benign	Het
Vps13c	A	G	9: 67,747,761 (GRCm39)	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,246,455 (GRCm39)	I335K	probably benign	Het
Zfp788	A	T	7: 41,298,275 (GRCm39)	I304F	possibly damaging	Het

Other mutations in Map3k21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Map3k21	APN	8	126,671,412 (GRCm39)	missense	possibly damaging	0.52
IGL01919:Map3k21	APN	8	126,668,871 (GRCm39)	missense	probably damaging	0.97
IGL02065:Map3k21	APN	8	126,668,397 (GRCm39)	missense	probably benign	0.01
IGL02123:Map3k21	APN	8	126,652,849 (GRCm39)	missense	probably damaging	1.00
IGL02127:Map3k21	APN	8	126,668,886 (GRCm39)	missense	probably benign
IGL02863:Map3k21	APN	8	126,654,280 (GRCm39)	missense	probably benign	0.02
IGL03194:Map3k21	APN	8	126,650,801 (GRCm39)	missense	possibly damaging	0.90
PIT4142001:Map3k21	UTSW	8	126,664,047 (GRCm39)	missense	probably damaging	0.98
R0238:Map3k21	UTSW	8	126,671,709 (GRCm39)	missense	possibly damaging	0.67
R0238:Map3k21	UTSW	8	126,671,709 (GRCm39)	missense	possibly damaging	0.67
R0454:Map3k21	UTSW	8	126,668,858 (GRCm39)	missense	probably benign
R0654:Map3k21	UTSW	8	126,668,759 (GRCm39)	missense	probably benign	0.07
R1141:Map3k21	UTSW	8	126,668,471 (GRCm39)	missense	probably benign	0.32
R1177:Map3k21	UTSW	8	126,671,577 (GRCm39)	missense	probably benign	0.31
R1463:Map3k21	UTSW	8	126,668,876 (GRCm39)	missense	probably benign	0.00
R1472:Map3k21	UTSW	8	126,668,417 (GRCm39)	missense	probably benign
R1759:Map3k21	UTSW	8	126,671,519 (GRCm39)	missense	probably benign
R1988:Map3k21	UTSW	8	126,654,294 (GRCm39)	missense	probably benign	0.07
R2058:Map3k21	UTSW	8	126,665,461 (GRCm39)	missense	probably benign	0.01
R2117:Map3k21	UTSW	8	126,650,781 (GRCm39)	missense	probably benign	0.19
R2157:Map3k21	UTSW	8	126,664,005 (GRCm39)	missense	probably benign
R2436:Map3k21	UTSW	8	126,668,354 (GRCm39)	nonsense	probably null
R2507:Map3k21	UTSW	8	126,666,677 (GRCm39)	missense	possibly damaging	0.73
R3125:Map3k21	UTSW	8	126,668,593 (GRCm39)	missense	probably benign	0.26
R3746:Map3k21	UTSW	8	126,661,839 (GRCm39)	missense	probably damaging	1.00
R4016:Map3k21	UTSW	8	126,637,924 (GRCm39)	missense	probably damaging	1.00
R4647:Map3k21	UTSW	8	126,668,850 (GRCm39)	missense	probably benign
R4648:Map3k21	UTSW	8	126,668,850 (GRCm39)	missense	probably benign
R4864:Map3k21	UTSW	8	126,654,294 (GRCm39)	missense	probably benign	0.04
R5642:Map3k21	UTSW	8	126,665,563 (GRCm39)	missense	probably benign	0.17
R5694:Map3k21	UTSW	8	126,671,507 (GRCm39)	missense	probably benign	0.04
R5950:Map3k21	UTSW	8	126,668,499 (GRCm39)	missense	possibly damaging	0.93
R5982:Map3k21	UTSW	8	126,638,169 (GRCm39)	missense	probably damaging	1.00
R6440:Map3k21	UTSW	8	126,637,876 (GRCm39)	missense	probably damaging	1.00
R6550:Map3k21	UTSW	8	126,664,031 (GRCm39)	missense	probably damaging	1.00
R6664:Map3k21	UTSW	8	126,668,610 (GRCm39)	missense	probably benign	0.01
R6668:Map3k21	UTSW	8	126,652,852 (GRCm39)	missense	possibly damaging	0.60
R6788:Map3k21	UTSW	8	126,666,605 (GRCm39)	missense	probably benign	0.28
R7369:Map3k21	UTSW	8	126,637,855 (GRCm39)	missense	possibly damaging	0.86
R7371:Map3k21	UTSW	8	126,661,804 (GRCm39)	missense	probably damaging	0.99
R7381:Map3k21	UTSW	8	126,671,717 (GRCm39)	missense	possibly damaging	0.83
R7388:Map3k21	UTSW	8	126,654,336 (GRCm39)	missense	probably damaging	1.00
R7397:Map3k21	UTSW	8	126,661,855 (GRCm39)	missense	probably damaging	1.00
R7562:Map3k21	UTSW	8	126,665,539 (GRCm39)	missense	probably damaging	1.00
R7564:Map3k21	UTSW	8	126,654,447 (GRCm39)	critical splice donor site	probably null
R7824:Map3k21	UTSW	8	126,637,702 (GRCm39)	missense	probably benign	0.01
R8286:Map3k21	UTSW	8	126,637,498 (GRCm39)	missense	probably benign	0.00
R8351:Map3k21	UTSW	8	126,671,472 (GRCm39)	missense	probably benign	0.00
R8451:Map3k21	UTSW	8	126,671,472 (GRCm39)	missense	probably benign	0.00
R8461:Map3k21	UTSW	8	126,671,361 (GRCm39)	missense	probably benign	0.05
R9005:Map3k21	UTSW	8	126,637,471 (GRCm39)	missense
R9074:Map3k21	UTSW	8	126,664,050 (GRCm39)	missense	probably damaging	0.98
R9156:Map3k21	UTSW	8	126,665,463 (GRCm39)	missense	possibly damaging	0.81
R9217:Map3k21	UTSW	8	126,638,027 (GRCm39)	missense	possibly damaging	0.47
R9474:Map3k21	UTSW	8	126,650,903 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAGGATTTCCAGGAGCCGAC -3'
(R):5'- ACCATGTATGTACTGGGATGTG -3'

Sequencing Primer
(F):5'- TTTCCAGGAGCCGACACCAC -3'
(R):5'- CATGTATGTACTGTGCAGTGAAC -3'

Posted On

2019-10-17