Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Map3k21'

715648

Institutional Source

Beutler Lab

Gene Symbol

Map3k21

Ensembl Gene

ENSMUSG00000031853

Gene Name

mitogen-activated protein kinase kinase kinase 21

Synonyms

BC021891

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125910450-125947440 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125924164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 302 (S302P)

Ref Sequence

ENSEMBL: ENSMUSP00000034316 (fasta)

Gene Model

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

AlphaFold

Q8VDG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034316
AA Change: S302P

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

SMART Domains

Protein: ENSMUSP00000034316
Gene: ENSMUSG00000031853
AA Change: S302P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 79,067,731	K250N	probably damaging	Het
9530077C05Rik	T	C	9: 22,431,719	M303T	probably damaging	Het
Adam5	A	T	8: 24,747,524	D623E	possibly damaging	Het
Akt3	T	C	1: 177,025,386	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,755,617	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,911,166	T908S	probably benign	Het
Clec7a	G	A	6: 129,463,163	Q160*	probably null	Het
Cntnap4	T	A	8: 112,733,471	I152N	probably damaging	Het
Ctdspl	C	T	9: 119,037,377	A179V	probably damaging	Het
Ddx43	T	C	9: 78,406,386	S200P	probably damaging	Het
Dip2c	A	G	13: 9,494,927	D84G	unknown	Het
Dmbt1	G	A	7: 131,074,257	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
E2f7	C	T	10: 110,767,189	T355I	probably damaging	Het
E2f7	C	A	10: 110,779,057	L541M	probably damaging	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Emc1	T	A	4: 139,366,394	L605Q	probably damaging	Het
Fras1	T	A	5: 96,739,265	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,108,347	G195E	probably damaging	Het
Galm	A	G	17: 80,150,132	D199G	possibly damaging	Het
Galntl6	T	G	8: 57,777,325	S20R	probably damaging	Het
Gm21671	A	T	5: 25,953,138	I72N	probably damaging	Het
Grb14	T	G	2: 64,938,400	Y189S	probably damaging	Het
Hk2	T	A	6: 82,728,914	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,630,720	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,659,895	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,233,424	K68N	possibly damaging	Het
Inhba	A	C	13: 16,017,678	E128A	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klhl3	G	A	13: 58,019,459	P364S	probably damaging	Het
Lhpp	T	C	7: 132,641,583	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Lrp3	A	G	7: 35,204,064	F286L	probably damaging	Het
Lrrc7	T	C	3: 158,135,391	T1337A	probably benign	Het
Magi2	A	G	5: 20,195,021	D17G	probably benign	Het
Mbtd1	A	G	11: 93,925,685	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,866,820	D306E	possibly damaging	Het
Muc20	T	C	16: 32,794,083	E308G	probably damaging	Het
Myh13	G	A	11: 67,364,886	S34N		Het
Nebl	C	A	2: 17,369,610	G894*	probably null	Het
Nelfa	A	G	5: 33,898,751	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,187,600	D13G	probably benign	Het
Ninl	A	T	2: 150,940,806	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,065,627	V176M	possibly damaging	Het
Nobox	G	A	6: 43,307,181	R144C	probably damaging	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1099	A	G	2: 86,959,413	M15T	probably benign	Het
Olfr1153	T	C	2: 87,896,349	M50T	probably benign	Het
Olfr1254	A	C	2: 89,789,162	Y63*	probably null	Het
Olfr1348	A	G	7: 6,502,151	L25P	probably benign	Het
Olfr1356	T	C	10: 78,847,057	N286S	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,270	Y184F	probably damaging	Het
Orai1	A	G	5: 123,029,238	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,563,098	V121L	probably benign	Het
Pclo	T	C	5: 14,521,236	S212P	possibly damaging	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Plg	A	G	17: 12,403,137	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,323,217	N330K	probably damaging	Het
Pou2f2	A	G	7: 25,094,822	L373S	probably benign	Het
Rnpep	A	G	1: 135,283,603	F136L	probably benign	Het
Rp1	A	G	1: 4,092,615		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404		probably benign	Het
Slc5a5	T	C	8: 70,884,952	D574G	probably benign	Het
Slc7a15	T	A	12: 8,538,794	N251I	probably damaging	Het
Susd4	T	C	1: 182,892,100	S427P	probably benign	Het
Tarbp1	T	A	8: 126,429,040	T1320S	probably benign	Het
Tbpl2	C	T	2: 24,094,638	V166I	probably benign	Het
Thbs1	T	C	2: 118,120,037		probably null	Het
Tnfsf13b	A	G	8: 10,031,648	Y270C	probably damaging	Het
Vps11	G	T	9: 44,348,993	C857*	probably null	Het
Vsig10	G	A	5: 117,325,039	R110H	probably benign	Het
Wee2	T	A	6: 40,455,110	Y204*	probably null	Het
Zfpm2	T	A	15: 41,103,471	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,231,473	N166S	probably benign	Het

Other mutations in Map3k21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Map3k21	APN	8	125944673	missense	possibly damaging	0.52
IGL01919:Map3k21	APN	8	125942132	missense	probably damaging	0.97
IGL02065:Map3k21	APN	8	125941658	missense	probably benign	0.01
IGL02123:Map3k21	APN	8	125926110	missense	probably damaging	1.00
IGL02127:Map3k21	APN	8	125942147	missense	probably benign
IGL02863:Map3k21	APN	8	125927541	missense	probably benign	0.02
IGL03194:Map3k21	APN	8	125924062	missense	possibly damaging	0.90
PIT4142001:Map3k21	UTSW	8	125937308	missense	probably damaging	0.98
R0238:Map3k21	UTSW	8	125944970	missense	possibly damaging	0.67
R0238:Map3k21	UTSW	8	125944970	missense	possibly damaging	0.67
R0454:Map3k21	UTSW	8	125942119	missense	probably benign
R0654:Map3k21	UTSW	8	125942020	missense	probably benign	0.07
R1141:Map3k21	UTSW	8	125941732	missense	probably benign	0.32
R1177:Map3k21	UTSW	8	125944838	missense	probably benign	0.31
R1463:Map3k21	UTSW	8	125942137	missense	probably benign	0.00
R1472:Map3k21	UTSW	8	125941678	missense	probably benign
R1759:Map3k21	UTSW	8	125944780	missense	probably benign
R1988:Map3k21	UTSW	8	125927555	missense	probably benign	0.07
R2058:Map3k21	UTSW	8	125938722	missense	probably benign	0.01
R2117:Map3k21	UTSW	8	125924042	missense	probably benign	0.19
R2157:Map3k21	UTSW	8	125937266	missense	probably benign
R2436:Map3k21	UTSW	8	125941615	nonsense	probably null
R2507:Map3k21	UTSW	8	125939938	missense	possibly damaging	0.73
R3125:Map3k21	UTSW	8	125941854	missense	probably benign	0.26
R3746:Map3k21	UTSW	8	125935100	missense	probably damaging	1.00
R4016:Map3k21	UTSW	8	125911185	missense	probably damaging	1.00
R4647:Map3k21	UTSW	8	125942111	missense	probably benign
R4648:Map3k21	UTSW	8	125942111	missense	probably benign
R4864:Map3k21	UTSW	8	125927555	missense	probably benign	0.04
R5642:Map3k21	UTSW	8	125938824	missense	probably benign	0.17
R5694:Map3k21	UTSW	8	125944768	missense	probably benign	0.04
R5950:Map3k21	UTSW	8	125941760	missense	possibly damaging	0.93
R5982:Map3k21	UTSW	8	125911430	missense	probably damaging	1.00
R6440:Map3k21	UTSW	8	125911137	missense	probably damaging	1.00
R6550:Map3k21	UTSW	8	125937292	missense	probably damaging	1.00
R6664:Map3k21	UTSW	8	125941871	missense	probably benign	0.01
R6668:Map3k21	UTSW	8	125926113	missense	possibly damaging	0.60
R6788:Map3k21	UTSW	8	125939866	missense	probably benign	0.28
R7369:Map3k21	UTSW	8	125911116	missense	possibly damaging	0.86
R7371:Map3k21	UTSW	8	125935065	missense	probably damaging	0.99
R7381:Map3k21	UTSW	8	125944978	missense	possibly damaging	0.83
R7388:Map3k21	UTSW	8	125927597	missense	probably damaging	1.00
R7397:Map3k21	UTSW	8	125935116	missense	probably damaging	1.00
R7497:Map3k21	UTSW	8	125927601	missense	probably damaging	0.99
R7562:Map3k21	UTSW	8	125938800	missense	probably damaging	1.00
R7564:Map3k21	UTSW	8	125927708	critical splice donor site	probably null
R7824:Map3k21	UTSW	8	125910963	missense	probably benign	0.01
R8351:Map3k21	UTSW	8	125944733	missense	probably benign	0.00
R8451:Map3k21	UTSW	8	125944733	missense	probably benign	0.00
R8461:Map3k21	UTSW	8	125944622	missense	probably benign	0.05
R9005:Map3k21	UTSW	8	125910732	missense
R9074:Map3k21	UTSW	8	125937311	missense	probably damaging	0.98
R9156:Map3k21	UTSW	8	125938724	missense	possibly damaging	0.81
R9217:Map3k21	UTSW	8	125911288	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TTGGATCATGCGCCAAAGCC -3'
(R):5'- TAATCGCCCCAGACACTGTTATC -3'

Sequencing Primer
(F):5'- TGCGCCAAAGCCCTTCC -3'
(R):5'- GCCCCAGACACTGTTATCATAGG -3'

Posted On

2022-06-15