Mutagenetix > Incidental Mutations

Incidental Mutation 'R6904:Map4k1'

538681

Institutional Source

Beutler Lab

Gene Symbol

Map4k1

Ensembl Gene

ENSMUSG00000037337

Gene Name

mitogen-activated protein kinase kinase kinase kinase 1

Synonyms

Hpk1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6904 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28982050-29003279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28986802 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 81 (Y81C)

Ref Sequence

ENSEMBL: ENSMUSP00000146807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066070] [ENSMUST00000085835] [ENSMUST00000207185] [ENSMUST00000208227] [ENSMUST00000208616] [ENSMUST00000208707]

Predicted Effect

probably benign
Transcript: ENSMUST00000066070

SMART Domains

Protein: ENSMUSP00000066038
Gene: ENSMUSG00000053565

Domain	Start	End	E-Value	Type
Pfam:CSN8_PSD8_EIF3K	61	200	1.2e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085835
AA Change: Y127C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: Y127C

Domain	Start	End	E-Value	Type
S_TKc	17	274	3.58e-84	SMART
low complexity region	301	318	N/A	INTRINSIC
low complexity region	373	383	N/A	INTRINSIC
low complexity region	385	416	N/A	INTRINSIC
low complexity region	426	446	N/A	INTRINSIC
CNH	506	813	4.93e-106	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207185
AA Change: Y127C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208227
AA Change: Y81C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208616

Predicted Effect

probably benign
Transcript: ENSMUST00000208707

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice have increased responses of B and T cells. Dendritic cells are also hyperresponsive to stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,626,092	Y406*	probably null	Het
9530053A07Rik	C	T	7: 28,137,213	R186C	probably damaging	Het
Acadvl	T	C	11: 70,014,333	D109G	probably benign	Het
Adam24	G	A	8: 40,681,503	G670E	probably damaging	Het
Angpt1	T	C	15: 42,459,740	M378V	probably benign	Het
Ankrd33	G	A	15: 101,117,112		probably null	Het
Apol7b	G	A	15: 77,423,425	T290I	probably benign	Het
Atg4a-ps	A	G	3: 103,645,864	W54R	probably damaging	Het
B3glct	A	G	5: 149,739,604		probably null	Het
Bmp7	A	G	2: 172,872,913	S368P	probably damaging	Het
Boc	A	G	16: 44,491,791	V636A	probably damaging	Het
Cacna1i	G	A	15: 80,374,801	R1237H	probably damaging	Het
Cdcp1	T	C	9: 123,173,915	D697G	probably benign	Het
Cep85l	T	C	10: 53,349,098	T132A	probably benign	Het
Ces1b	T	A	8: 93,060,410	Y447F	probably damaging	Het
Cntn4	A	T	6: 106,697,583	T1015S	probably benign	Het
Eea1	T	G	10: 96,002,879		probably null	Het
Gm12800	G	A	4: 101,910,094	C180Y	possibly damaging	Het
Gm4788	T	G	1: 139,731,653	N642H	possibly damaging	Het
Hipk1	A	T	3: 103,777,512	N262K	possibly damaging	Het
Jmjd8	G	A	17: 25,829,052	R41H	possibly damaging	Het
Klhl3	T	A	13: 58,030,445	T344S	probably damaging	Het
Krt39	T	C	11: 99,519,821	D175G	probably damaging	Het
Mpdu1	T	A	11: 69,658,585	T95S	probably benign	Het
Myl12b	A	T	17: 70,977,140	I31N	probably damaging	Het
Ndufaf5	T	A	2: 140,188,780	Y195*	probably null	Het
Olfr1141	A	G	2: 87,753,879	V38A	probably benign	Het
Olfr1224-ps1	G	A	2: 89,156,813	R121C	possibly damaging	Het
Olfr617	T	A	7: 103,584,520	I166N	possibly damaging	Het
Olfr621-ps1	A	T	7: 103,629,583	F126I	probably benign	Het
Olfr984	T	C	9: 40,101,356	I45V	probably benign	Het
Oxgr1	T	A	14: 120,022,019	I259F	possibly damaging	Het
Pcdhb9	T	A	18: 37,401,917	D321E	probably benign	Het
Pi4kb	G	T	3: 94,993,150	R392L	probably damaging	Het
Prss41	T	C	17: 23,837,648	K151R	probably benign	Het
Rev3l	T	A	10: 39,821,481	V658D	probably benign	Het
Snx4	A	G	16: 33,294,738	I430V	probably damaging	Het
Tanc2	C	T	11: 105,835,230	H407Y	possibly damaging	Het
Tcf25	G	A	8: 123,400,698		probably null	Het
Tsc22d1	A	T	14: 76,506,483	K24*	probably null	Het
Vmn2r30	A	G	7: 7,312,548	F762S	probably damaging	Het
Xrcc6	A	G	15: 82,029,122	T319A	probably benign	Het
Zbtb1	C	T	12: 76,386,211	R324*	probably null	Het
Zc3h7a	A	G	16: 11,145,671	Y729H	probably damaging	Het
Zfp329	C	A	7: 12,806,530		probably benign	Het
Zfp456	A	T	13: 67,366,265	S441T	probably benign	Het

Other mutations in Map4k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Map4k1	APN	7	29001619	missense	probably damaging	0.98
IGL01936:Map4k1	APN	7	28988607	missense	possibly damaging	0.90
IGL02473:Map4k1	APN	7	28999872	missense	probably damaging	1.00
IGL02934:Map4k1	APN	7	28994106	missense	probably benign	0.00
IGL03180:Map4k1	APN	7	28988085	missense	probably damaging	1.00
IGL03199:Map4k1	APN	7	28983417	missense	probably damaging	1.00
IGL03493:Map4k1	APN	7	28984151	unclassified	probably benign
R0333:Map4k1	UTSW	7	28999761	unclassified	probably benign
R1296:Map4k1	UTSW	7	28998452	missense	possibly damaging	0.96
R1305:Map4k1	UTSW	7	28995465	missense	probably benign
R1519:Map4k1	UTSW	7	28991036	missense	probably benign	0.00
R1711:Map4k1	UTSW	7	28989352	missense	possibly damaging	0.80
R1842:Map4k1	UTSW	7	28987163	missense	probably damaging	1.00
R1851:Map4k1	UTSW	7	28999784	missense	probably benign
R2042:Map4k1	UTSW	7	28984130	missense	probably damaging	1.00
R2274:Map4k1	UTSW	7	29001957	missense	probably damaging	1.00
R2275:Map4k1	UTSW	7	29001957	missense	probably damaging	1.00
R4426:Map4k1	UTSW	7	28988595	missense	probably damaging	1.00
R4568:Map4k1	UTSW	7	28986654	missense	probably damaging	1.00
R4858:Map4k1	UTSW	7	28988770	missense	probably damaging	1.00
R4903:Map4k1	UTSW	7	28983002	missense	probably benign	0.01
R4964:Map4k1	UTSW	7	28983002	missense	probably benign	0.01
R4966:Map4k1	UTSW	7	28983002	missense	probably benign	0.01
R5124:Map4k1	UTSW	7	28988832	missense	probably damaging	1.00
R5778:Map4k1	UTSW	7	28994221	missense	probably benign	0.37
R5786:Map4k1	UTSW	7	29000020	missense	probably damaging	1.00
R6343:Map4k1	UTSW	7	29000290	missense	possibly damaging	0.76
R6475:Map4k1	UTSW	7	28987022	missense	probably damaging	1.00
R6702:Map4k1	UTSW	7	29002396	missense	possibly damaging	0.86
R6703:Map4k1	UTSW	7	29002396	missense	possibly damaging	0.86
R6856:Map4k1	UTSW	7	28986834	missense	probably damaging	1.00
R6870:Map4k1	UTSW	7	29001671	critical splice donor site	probably null
R7081:Map4k1	UTSW	7	28991149	missense	probably benign
R7572:Map4k1	UTSW	7	28987138	missense	probably benign	0.01
R7868:Map4k1	UTSW	7	28999962	critical splice acceptor site	probably null
R7951:Map4k1	UTSW	7	28999962	critical splice acceptor site	probably null
R8034:Map4k1	UTSW	7	28988148	missense	probably damaging	1.00
Z1177:Map4k1	UTSW	7	29000008	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATCCGATGTCATGGGAGGAG -3'
(R):5'- ATTAGAGGCTGACAGAGACCC -3'

Sequencing Primer
(F):5'- TTCCAATGCCTGGCCTGG -3'
(R):5'- TGACAGAGACCCTGCTTCC -3'

Posted On

2018-11-06