Mutagenetix > Incidental Mutation

Incidental Mutation 'R7915:Mapk14'

648046

Institutional Source

Beutler Lab

Gene Symbol

Mapk14

Ensembl Gene

ENSMUSG00000053436

Gene Name

mitogen-activated protein kinase 14

Synonyms

p38 MAP Kinase, Mxi2, CSBP2, p38 MAP kinase alpha, p38alpha, p38-alpha, p38, Csbp1, Crk1, p38a, p38 MAPK, p38 alpha, p38MAPK

MMRRC Submission

045963-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28910303-28967380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28947928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 221 (T221A)

Ref Sequence

ENSEMBL: ENSMUSP00000004990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004990] [ENSMUST00000062694] [ENSMUST00000114752] [ENSMUST00000114754] [ENSMUST00000114758] [ENSMUST00000124886]

AlphaFold

P47811

Predicted Effect

probably benign
Transcript: ENSMUST00000004990
AA Change: T221A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000004990
Gene: ENSMUSG00000053436
AA Change: T221A

Domain	Start	End	E-Value	Type
S_TKc	24	308	3.46e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062694
AA Change: T221A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000061958
Gene: ENSMUSG00000053436
AA Change: T221A

Domain	Start	End	E-Value	Type
S_TKc	24	308	7.42e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114752
AA Change: T144A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000110400
Gene: ENSMUSG00000053436
AA Change: T144A

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	193	7.3e-22	PFAM
Pfam:Pkinase	1	231	1.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114754
AA Change: T144A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000110402
Gene: ENSMUSG00000053436
AA Change: T144A

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	193	7.3e-22	PFAM
Pfam:Pkinase	1	231	1.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114758
AA Change: T221A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110406
Gene: ENSMUSG00000053436
AA Change: T221A

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	24	242	3.8e-32	PFAM
Pfam:Pkinase	24	257	9.4e-65	PFAM
Pfam:Kdo	40	181	3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124886

SMART Domains

Protein: ENSMUSP00000116914
Gene: ENSMUSG00000053436

Domain	Start	End	E-Value	Type
Pfam:Pkinase	24	203	3.9e-50	PFAM
Pfam:Pkinase_Tyr	24	203	1.9e-25	PFAM
Pfam:Kdo	39	181	3.9e-7	PFAM

Coding Region Coverage

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

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for various null mutations are embryonic to perinatal lethal showing multiple organ system defects. Mice homozygous for a knock-out mutation exhibit abnormal myoblast differentiation and delayed myofiber growth and maturation. [provided by MGI curators]

Allele List at MGI

All alleles(20) : Targeted, knock-out(4) Targeted, other(9) Gene trapped(7)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	G	17: 24,484,507 (GRCm39)	H1585P	probably damaging	Het
Acaca	A	T	11: 84,167,414 (GRCm39)	T1063S	probably benign	Het
Actc1	T	A	2: 113,880,967 (GRCm39)	K86M	probably damaging	Het
Amz1	A	G	5: 140,727,190 (GRCm39)	N51S	probably benign	Het
Arhgap33	G	A	7: 30,222,648 (GRCm39)	P1095S	probably benign	Het
Bicra	T	C	7: 15,722,447 (GRCm39)	T357A	probably benign	Het
C130032M10Rik	A	G	9: 114,345,123 (GRCm39)	R120G	unknown	Het
Cadps	A	G	14: 12,705,544 (GRCm38)	F284L	possibly damaging	Het
Ccdc83	G	A	7: 89,893,290 (GRCm39)	Q156*	probably null	Het
Cdh20	T	A	1: 104,861,898 (GRCm39)	M26K	probably benign	Het
Cdh23	A	G	10: 60,143,668 (GRCm39)	L2979P	probably damaging	Het
Cdhr17	A	G	5: 17,032,012 (GRCm39)	N556D	probably benign	Het
Crocc2	T	C	1: 93,141,363 (GRCm39)	L1172P	probably damaging	Het
Cyp2d10	C	T	15: 82,288,628 (GRCm39)		probably null	Het
Cyp2j9	T	A	4: 96,479,621 (GRCm39)		probably benign	Het
Dgcr2	A	G	16: 17,677,266 (GRCm39)		probably null	Het
Dio3	A	G	12: 110,246,473 (GRCm39)	M270V		Het
Dll1	C	A	17: 15,588,690 (GRCm39)	D662Y	probably damaging	Het
Drd1	G	T	13: 54,207,834 (GRCm39)	P127T	probably damaging	Het
Evc2	T	C	5: 37,544,206 (GRCm39)	S652P	probably damaging	Het
Fam149a	C	A	8: 45,794,280 (GRCm39)	M708I	probably benign	Het
Fam89a	T	C	8: 125,467,895 (GRCm39)	E139G	probably damaging	Het
Gpr141	T	C	13: 19,936,729 (GRCm39)	I15M	probably benign	Het
Hcn4	G	A	9: 58,731,218 (GRCm39)	E142K	unknown	Het
Hivep3	T	A	4: 119,954,962 (GRCm39)	S1093T	possibly damaging	Het
Inpp5f	C	A	7: 128,269,433 (GRCm39)	T261K	probably benign	Het
Ints3	A	T	3: 90,340,132 (GRCm39)	D42E	probably benign	Het
Krt90	A	T	15: 101,466,838 (GRCm39)		probably null	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrig1	C	A	6: 94,607,082 (GRCm39)		probably null	Het
Megf10	A	T	18: 57,373,807 (GRCm39)	T202S	probably benign	Het
Neo1	A	T	9: 58,838,264 (GRCm39)	F507I	probably benign	Het
Or7a35	A	G	10: 78,853,264 (GRCm39)	Y36C	probably damaging	Het
Or8b48	A	T	9: 38,492,969 (GRCm39)	Y132F	probably damaging	Het
Or8k37	T	A	2: 86,469,110 (GRCm39)	*314L	probably null	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,811,630 (GRCm39)	Y3724*	probably null	Het
Plxnd1	T	C	6: 115,943,879 (GRCm39)	D1140G	probably benign	Het
Pramel22	T	C	4: 143,382,315 (GRCm39)	K127R	possibly damaging	Het
Prex1	A	G	2: 166,463,112 (GRCm39)	S250P	probably damaging	Het
Prom1	A	T	5: 44,162,277 (GRCm39)	M777K	possibly damaging	Het
Prrc2c	A	C	1: 162,519,977 (GRCm39)	S2125A	probably benign	Het
Ptpn12	A	G	5: 21,214,449 (GRCm39)	I229T	probably damaging	Het
Ranbp6	A	G	19: 29,790,073 (GRCm39)	V93A	probably benign	Het
Rtn3	A	G	19: 7,434,865 (GRCm39)	C376R	probably benign	Het
Sis	A	C	3: 72,828,471 (GRCm39)	H1201Q	probably damaging	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Slc3a2	G	A	19: 8,685,182 (GRCm39)	R535W	probably damaging	Het
Slc5a2	T	A	7: 127,864,966 (GRCm39)	L33Q	probably damaging	Het
Sltm	G	T	9: 70,494,431 (GRCm39)	R927L	probably damaging	Het
Spaca7b	T	C	8: 11,728,645 (GRCm39)	T9A	possibly damaging	Het
Stat1	A	G	1: 52,190,440 (GRCm39)	D565G	probably benign	Het
Terb1	T	C	8: 105,173,848 (GRCm39)	K745R	possibly damaging	Het
Tescl	T	C	7: 24,033,113 (GRCm39)	I71V	probably damaging	Het
Tgm1	T	C	14: 55,937,883 (GRCm39)	D742G	probably damaging	Het
Tmem128	T	A	5: 38,423,875 (GRCm39)	W30R	probably benign	Het
Tox	T	A	4: 6,822,949 (GRCm39)	M123L	probably benign	Het
Tsnaxip1	A	G	8: 106,569,413 (GRCm39)	S547G	possibly damaging	Het
Ttn	T	A	2: 76,567,539 (GRCm39)	K27785*	probably null	Het
Tut7	T	C	13: 59,932,628 (GRCm39)	I1345V	probably benign	Het
Usp38	A	C	8: 81,727,712 (GRCm39)	S340R	probably damaging	Het
Utrn	A	T	10: 12,340,956 (GRCm39)	H2840Q	probably damaging	Het
Vars2	T	C	17: 35,975,731 (GRCm39)	I229V	probably damaging	Het
Vmn1r16	A	T	6: 57,300,380 (GRCm39)	Y81N	probably damaging	Het
Vmn2r98	A	T	17: 19,287,493 (GRCm39)	D442V	probably benign	Het
Vps13d	T	C	4: 144,813,389 (GRCm39)	I3296V		Het
Wwtr1	A	G	3: 57,483,020 (GRCm39)		probably null	Het

Other mutations in Mapk14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Mapk14	APN	17	28,944,820 (GRCm39)	critical splice donor site	probably null
IGL03013:Mapk14	APN	17	28,947,323 (GRCm39)	splice site	probably benign
Hanzhou	UTSW	17	28,964,052 (GRCm39)	missense	probably damaging	0.99
Wanzhou	UTSW	17	28,943,798 (GRCm39)	missense	probably damaging	1.00
D4043:Mapk14	UTSW	17	28,964,124 (GRCm39)	missense	probably damaging	1.00
R0418:Mapk14	UTSW	17	28,910,763 (GRCm39)	missense	probably benign
R4513:Mapk14	UTSW	17	28,943,798 (GRCm39)	missense	probably damaging	1.00
R4514:Mapk14	UTSW	17	28,943,798 (GRCm39)	missense	probably damaging	1.00
R4674:Mapk14	UTSW	17	28,963,996 (GRCm39)	splice site	probably null
R4981:Mapk14	UTSW	17	28,960,765 (GRCm39)	missense	probably damaging	1.00
R5418:Mapk14	UTSW	17	28,960,817 (GRCm39)	missense	possibly damaging	0.65
R7477:Mapk14	UTSW	17	28,964,052 (GRCm39)	missense	probably damaging	0.99
R7792:Mapk14	UTSW	17	28,965,271 (GRCm39)	missense	probably damaging	0.99
R8208:Mapk14	UTSW	17	28,943,807 (GRCm39)	missense	probably damaging	1.00
R8241:Mapk14	UTSW	17	28,934,374 (GRCm39)	missense	possibly damaging	0.89
R8407:Mapk14	UTSW	17	28,963,983 (GRCm39)	missense	probably benign
R9048:Mapk14	UTSW	17	28,947,358 (GRCm39)	missense	probably benign
R9095:Mapk14	UTSW	17	28,934,413 (GRCm39)	missense	probably benign	0.00
R9169:Mapk14	UTSW	17	28,960,814 (GRCm39)	missense	probably benign
R9549:Mapk14	UTSW	17	28,934,415 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACGACCTGTGGAGTCTTTTC -3'
(R):5'- TCTTGGCAAGGTGAGCAACTC -3'

Sequencing Primer
(F):5'- ACGACCTGTGGAGTCTTTTCTTGAG -3'
(R):5'- GGTGAGCAACTCAACAAGAGGAC -3'

Posted On

2020-09-15