Mutagenetix > Incidental Mutation

Incidental Mutation 'R6762:Map3k19'

531721

Institutional Source

Beutler Lab

Gene Symbol

Map3k19

Ensembl Gene

ENSMUSG00000051590

Gene Name

mitogen-activated protein kinase kinase kinase 19

Synonyms

Ysk4

MMRRC Submission

044878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127742528-127782768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127775001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 112 (G112D)

Ref Sequence

ENSEMBL: ENSMUSP00000146463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208183]

AlphaFold

E9Q3S4

Predicted Effect

probably damaging
Transcript: ENSMUST00000208183
AA Change: G112D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,976,867 (GRCm39)	Y27H	probably benign	Het
Angptl3	T	A	4: 98,925,654 (GRCm39)	S327T	possibly damaging	Het
Arl6ip4	GGAAGAAGAAGAAGAAGAA	GGAAGAAGAAGAAGAAGAAGAA	5: 124,255,113 (GRCm39)		probably benign	Het
Cyp2s1	A	T	7: 25,507,495 (GRCm39)	L318H	probably damaging	Het
Dnah14	T	C	1: 181,584,824 (GRCm39)	L3185P	probably damaging	Het
Dnah7b	T	C	1: 46,263,902 (GRCm39)	V2128A	probably benign	Het
Ehhadh	A	T	16: 21,581,209 (GRCm39)	F594L	probably benign	Het
En2	A	G	5: 28,375,351 (GRCm39)	N298S	possibly damaging	Het
Epha5	T	A	5: 84,479,585 (GRCm39)	N140Y	probably damaging	Het
Fam151b	C	T	13: 92,604,558 (GRCm39)	V144I	possibly damaging	Het
Fanca	C	A	8: 123,998,042 (GRCm39)	A1215S	probably benign	Het
Fancd2	T	A	6: 113,562,977 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,144,308 (GRCm39)		probably null	Het
Gm4513	T	C	7: 20,328,118 (GRCm39)	N31S	probably benign	Het
Hspg2	A	T	4: 137,279,114 (GRCm39)	I3066F	possibly damaging	Het
Krt10	T	C	11: 99,277,883 (GRCm39)	T355A	possibly damaging	Het
Lims1	C	A	10: 58,248,367 (GRCm39)	H275N	probably damaging	Het
Mdn1	T	A	4: 32,676,786 (GRCm39)	N619K	possibly damaging	Het
Mtor	A	G	4: 148,622,938 (GRCm39)	T1977A	possibly damaging	Het
Nos2	T	G	11: 78,850,574 (GRCm39)	L1144R	possibly damaging	Het
Or52ae7	G	C	7: 103,119,596 (GRCm39)	V117L	probably benign	Het
Or6c68	G	A	10: 129,158,125 (GRCm39)	C211Y	probably damaging	Het
Or8k38	A	T	2: 86,488,188 (GRCm39)	F205I	probably benign	Het
Pals2	T	A	6: 50,157,418 (GRCm39)		probably null	Het
Pcdhga9	C	A	18: 37,870,321 (GRCm39)	S50Y	probably damaging	Het
Pfn4	T	A	12: 4,825,487 (GRCm39)	M108K	probably damaging	Het
Prep	T	C	10: 45,024,219 (GRCm39)		probably null	Het
Qtrt1	T	A	9: 21,323,378 (GRCm39)	H76Q	probably damaging	Het
Rpa1	T	A	11: 75,231,171 (GRCm39)	S73C	possibly damaging	Het
Senp5	A	G	16: 31,808,702 (GRCm39)	V157A	probably damaging	Het
Snapc3	T	C	4: 83,353,495 (GRCm39)	L178P	probably damaging	Het
Sptbn4	A	G	7: 27,093,633 (GRCm39)	F1340L	probably damaging	Het
Srd5a3	T	A	5: 76,301,398 (GRCm39)	I85K	probably benign	Het
Taar2	C	T	10: 23,817,300 (GRCm39)	T280M	probably damaging	Het
Tgfb3	T	C	12: 86,116,237 (GRCm39)	D177G	probably benign	Het
Tpt1	A	G	14: 76,083,821 (GRCm39)	D94G	probably benign	Het
Trpm4	A	G	7: 44,954,240 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,763,171 (GRCm39)	R746H	probably benign	Het
Txndc2	T	C	17: 65,945,967 (GRCm39)	D70G	probably damaging	Het
Ugcg	T	A	4: 59,219,530 (GRCm39)	I289N	possibly damaging	Het
Vmn2r2	C	G	3: 64,041,870 (GRCm39)	D282H	probably damaging	Het
Vmn2r50	A	T	7: 9,787,010 (GRCm39)	N32K	probably benign	Het
Wdpcp	C	T	11: 21,671,244 (GRCm39)	T495I	probably benign	Het
Zfp961	T	A	8: 72,719,958 (GRCm39)	C51S	possibly damaging	Het
Zxdc	C	T	6: 90,359,165 (GRCm39)	A599V	probably benign	Het

Other mutations in Map3k19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Map3k19	APN	1	127,752,068 (GRCm39)	nonsense	probably null
IGL01367:Map3k19	APN	1	127,752,088 (GRCm39)	missense	possibly damaging	0.88
IGL01443:Map3k19	APN	1	127,766,244 (GRCm39)	missense	probably benign	0.38
IGL01481:Map3k19	APN	1	127,750,215 (GRCm39)	missense	probably damaging	0.99
IGL01530:Map3k19	APN	1	127,749,841 (GRCm39)	missense	probably damaging	1.00
IGL01603:Map3k19	APN	1	127,758,010 (GRCm39)	missense	possibly damaging	0.89
IGL02044:Map3k19	APN	1	127,751,242 (GRCm39)	missense	probably damaging	1.00
IGL02159:Map3k19	APN	1	127,750,907 (GRCm39)	missense	probably benign	0.00
IGL02296:Map3k19	APN	1	127,751,983 (GRCm39)	missense	probably damaging	1.00
IGL02349:Map3k19	APN	1	127,751,506 (GRCm39)	missense	possibly damaging	0.48
IGL02823:Map3k19	APN	1	127,750,001 (GRCm39)	missense	probably benign	0.01
IGL02965:Map3k19	APN	1	127,751,803 (GRCm39)	missense	probably damaging	0.98
IGL03137:Map3k19	APN	1	127,752,052 (GRCm39)	missense	probably benign	0.04
R0125:Map3k19	UTSW	1	127,750,837 (GRCm39)	missense	probably benign	0.07
R0265:Map3k19	UTSW	1	127,749,919 (GRCm39)	missense	possibly damaging	0.61
R0389:Map3k19	UTSW	1	127,750,152 (GRCm39)	missense	probably benign	0.08
R0443:Map3k19	UTSW	1	127,750,152 (GRCm39)	missense	probably benign	0.08
R0465:Map3k19	UTSW	1	127,766,264 (GRCm39)	missense	probably damaging	1.00
R0645:Map3k19	UTSW	1	127,749,919 (GRCm39)	missense	possibly damaging	0.61
R0759:Map3k19	UTSW	1	127,745,162 (GRCm39)	missense	possibly damaging	0.90
R0815:Map3k19	UTSW	1	127,762,375 (GRCm39)	splice site	probably benign
R0838:Map3k19	UTSW	1	127,751,696 (GRCm39)	missense	probably benign	0.13
R1173:Map3k19	UTSW	1	127,751,617 (GRCm39)	missense	probably benign	0.17
R1174:Map3k19	UTSW	1	127,751,617 (GRCm39)	missense	probably benign	0.17
R1175:Map3k19	UTSW	1	127,751,617 (GRCm39)	missense	probably benign	0.17
R1457:Map3k19	UTSW	1	127,745,635 (GRCm39)	missense	probably damaging	1.00
R1661:Map3k19	UTSW	1	127,745,393 (GRCm39)	missense	possibly damaging	0.95
R1665:Map3k19	UTSW	1	127,745,393 (GRCm39)	missense	possibly damaging	0.95
R1753:Map3k19	UTSW	1	127,750,417 (GRCm39)	missense	probably benign	0.02
R1944:Map3k19	UTSW	1	127,750,859 (GRCm39)	missense	probably benign	0.29
R2496:Map3k19	UTSW	1	127,750,823 (GRCm39)	missense	probably damaging	1.00
R2878:Map3k19	UTSW	1	127,751,530 (GRCm39)	missense	possibly damaging	0.61
R2895:Map3k19	UTSW	1	127,749,835 (GRCm39)	missense	possibly damaging	0.60
R3025:Map3k19	UTSW	1	127,766,290 (GRCm39)	critical splice acceptor site	probably null
R4577:Map3k19	UTSW	1	127,750,550 (GRCm39)	nonsense	probably null
R4612:Map3k19	UTSW	1	127,743,037 (GRCm39)	missense	probably benign	0.07
R4888:Map3k19	UTSW	1	127,745,470 (GRCm39)	missense	probably damaging	1.00
R4927:Map3k19	UTSW	1	127,749,932 (GRCm39)	missense	probably benign	0.08
R5028:Map3k19	UTSW	1	127,750,969 (GRCm39)	missense	probably benign	0.00
R5050:Map3k19	UTSW	1	127,751,299 (GRCm39)	missense	probably benign	0.21
R5131:Map3k19	UTSW	1	127,751,427 (GRCm39)	missense	possibly damaging	0.78
R5556:Map3k19	UTSW	1	127,762,284 (GRCm39)	nonsense	probably null
R5606:Map3k19	UTSW	1	127,750,694 (GRCm39)	missense	probably benign
R5617:Map3k19	UTSW	1	127,750,703 (GRCm39)	missense	probably damaging	1.00
R5755:Map3k19	UTSW	1	127,750,118 (GRCm39)	missense	probably benign	0.02
R5854:Map3k19	UTSW	1	127,758,092 (GRCm39)	missense	probably damaging	0.96
R5952:Map3k19	UTSW	1	127,750,477 (GRCm39)	missense	probably benign	0.01
R6132:Map3k19	UTSW	1	127,778,213 (GRCm39)	missense	possibly damaging	0.53
R6175:Map3k19	UTSW	1	127,750,569 (GRCm39)	missense	probably benign	0.05
R6261:Map3k19	UTSW	1	127,750,336 (GRCm39)	missense	possibly damaging	0.95
R6471:Map3k19	UTSW	1	127,744,991 (GRCm39)	missense	probably damaging	1.00
R6726:Map3k19	UTSW	1	127,748,185 (GRCm39)	missense	probably benign	0.09
R6732:Map3k19	UTSW	1	127,751,969 (GRCm39)	missense	probably benign	0.37
R7366:Map3k19	UTSW	1	127,745,192 (GRCm39)	missense	probably damaging	1.00
R7414:Map3k19	UTSW	1	127,766,189 (GRCm39)	missense	probably damaging	0.99
R7686:Map3k19	UTSW	1	127,749,985 (GRCm39)	nonsense	probably null
R7702:Map3k19	UTSW	1	127,756,827 (GRCm39)	missense	probably damaging	1.00
R7849:Map3k19	UTSW	1	127,751,383 (GRCm39)	missense	probably benign	0.21
R8129:Map3k19	UTSW	1	127,750,420 (GRCm39)	missense	possibly damaging	0.90
R8134:Map3k19	UTSW	1	127,751,492 (GRCm39)	missense	probably damaging	0.99
R8136:Map3k19	UTSW	1	127,751,492 (GRCm39)	missense	probably damaging	0.99
R8264:Map3k19	UTSW	1	127,751,528 (GRCm39)	missense
R8305:Map3k19	UTSW	1	127,745,007 (GRCm39)	missense
R8511:Map3k19	UTSW	1	127,775,155 (GRCm39)	missense	possibly damaging	0.71
R8808:Map3k19	UTSW	1	127,751,866 (GRCm39)	missense	probably damaging	1.00
R8913:Map3k19	UTSW	1	127,750,363 (GRCm39)	missense	probably benign	0.08
R9025:Map3k19	UTSW	1	127,758,175 (GRCm39)	missense	probably benign	0.06
R9593:Map3k19	UTSW	1	127,778,163 (GRCm39)	missense	probably benign	0.01
R9681:Map3k19	UTSW	1	127,750,097 (GRCm39)	missense	possibly damaging	0.61
Z1177:Map3k19	UTSW	1	127,749,771 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GCATAAGATGGCATAGTCTGTCTGC -3'
(R):5'- AAGAACTTCATTGTTTTGCAGGTTG -3'

Sequencing Primer
(F):5'- GCATAGTCTGTCTGCTGCCTG -3'
(R):5'- CAGGTTGTTGAGATTCTTCTGGAAG -3'

Posted On

2018-08-29