Mutagenetix > Incidental Mutation

Incidental Mutation 'R4634:Myd88'

349409

Institutional Source

Beutler Lab

Gene Symbol

Myd88

Ensembl Gene

ENSMUSG00000032508

Gene Name

myeloid differentiation primary response gene 88

Synonyms

MMRRC Submission

042009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119165000-119169084 bp(-) (GRCm39)

Type of Mutation

splice site (27418 bp from exon)

DNA Base Change (assembly)

G to A at 119167175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035092] [ENSMUST00000039784] [ENSMUST00000139870] [ENSMUST00000170400] [ENSMUST00000175743] [ENSMUST00000176546] [ENSMUST00000176397] [ENSMUST00000176351] [ENSMUST00000177463]

AlphaFold

P22366

Predicted Effect

probably null
Transcript: ENSMUST00000035092
AA Change: Q181*

SMART Domains

Protein: ENSMUSP00000035092
Gene: ENSMUSG00000032508
AA Change: Q181*

Domain	Start	End	E-Value	Type
DEATH	19	109	7.17e-15	SMART
TIR	160	296	3.39e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039784

SMART Domains

Protein: ENSMUSP00000042351
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	38	291	3.6e-88	PFAM
Pfam:Thiolase_C	298	421	3e-53	PFAM
Pfam:ACP_syn_III_C	329	420	1.8e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000139870

SMART Domains

Protein: ENSMUSP00000115746
Gene: ENSMUSG00000032508

Domain	Start	End	E-Value	Type
Pfam:Death	50	109	3.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150837

Predicted Effect

probably null
Transcript: ENSMUST00000170400

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Sugar_tr	150	555	1.2e-28	PFAM
Pfam:MFS_1	178	514	7.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175743

SMART Domains

Protein: ENSMUSP00000135439
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	291	4.2e-90	PFAM
Pfam:Thiolase_C	298	337	8.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176796

Predicted Effect

probably benign
Transcript: ENSMUST00000176546

SMART Domains

Protein: ENSMUSP00000134981
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	1	110	4.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176397

SMART Domains

Protein: ENSMUSP00000135191
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	152	4.9e-38	PFAM
Pfam:Thiolase_N	148	246	4.8e-34	PFAM
Pfam:Thiolase_C	214	328	5.9e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176351

SMART Domains

Protein: ENSMUSP00000134926
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	98	2.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177463

SMART Domains

Protein: ENSMUSP00000135310
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	199	3.2e-50	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology. [provided by MGI curators]

Allele List at MGI

All alleles(18) : Targeted(9) Gene trapped(4) Chemically induced(5)

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	G	15: 74,456,278 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,443,033 (GRCm39)	T77A	probably benign	Het
Brd8	T	C	18: 34,741,537 (GRCm39)	M311V	possibly damaging	Het
Cand2	T	A	6: 115,774,948 (GRCm39)	I1052N	probably damaging	Het
Ccdc121	G	A	5: 31,645,435 (GRCm39)	R396Q	probably benign	Het
Ceacam16	T	A	7: 19,592,531 (GRCm39)	M126L	probably benign	Het
Chd3	TGCTGCCGCTGCCGC	TGCTGCCGCTGCCGCTGCCGC	11: 69,253,013 (GRCm39)		probably benign	Het
Cln8	C	T	8: 14,944,842 (GRCm39)	T52I	probably damaging	Het
Cops2	C	A	2: 125,682,400 (GRCm39)	D194Y	probably damaging	Het
Csf1	C	T	3: 107,656,483 (GRCm39)	V71M	probably damaging	Het
Dip2b	T	C	15: 100,058,372 (GRCm39)	F183S	probably damaging	Het
Ears2	T	A	7: 121,643,832 (GRCm39)	K375N	probably benign	Het
Fbn1	C	A	2: 125,185,981 (GRCm39)	G1596C	probably damaging	Het
Fscn2	A	T	11: 120,258,546 (GRCm39)	D390V	possibly damaging	Het
Gm42669	A	T	5: 107,656,079 (GRCm39)	I781F	possibly damaging	Het
Gprin1	G	T	13: 54,885,871 (GRCm39)	P801Q	probably damaging	Het
Hira	C	A	16: 18,765,150 (GRCm39)	S609R	probably damaging	Het
Htt	G	T	5: 35,033,292 (GRCm39)	K1853N	probably benign	Het
Kif2c	T	C	4: 117,035,437 (GRCm39)	I4V	probably benign	Het
Marveld2	A	G	13: 100,748,447 (GRCm39)	Y211H	probably damaging	Het
Nup153	A	T	13: 46,840,706 (GRCm39)	N967K	possibly damaging	Het
Or4a76	A	C	2: 89,460,516 (GRCm39)	I242S	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Rabepk	A	G	2: 34,670,752 (GRCm39)	M228T	probably damaging	Het
Rcn3	T	A	7: 44,738,092 (GRCm39)	D92V	probably damaging	Het
Sec1	T	A	7: 45,328,297 (GRCm39)	Y250F	probably damaging	Het
Slc39a4	T	C	15: 76,498,693 (GRCm39)	T334A	probably benign	Het
Trip11	G	T	12: 101,803,875 (GRCm39)	T1669K	probably damaging	Het
Ttbk2	A	G	2: 120,570,673 (GRCm39)	L1091P	probably damaging	Het
Vmn1r231	A	G	17: 21,110,660 (GRCm39)	V85A	possibly damaging	Het
Zfp280b	T	C	10: 75,874,663 (GRCm39)	C181R	probably benign	Het

Other mutations in Myd88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Myd88	APN	9	119,166,418 (GRCm39)	unclassified	probably benign
Bahia	UTSW	9	119,167,175 (GRCm39)	splice site	probably null
Dani_alves	UTSW	9	119,166,889 (GRCm39)	missense	possibly damaging	0.69
lackadaisical	UTSW	9	119,167,758 (GRCm39)	missense	probably damaging	1.00
Myd88rev1	UTSW	9	119,166,460 (GRCm39)	missense	possibly damaging	0.90
pococurante	UTSW	9	119,167,180 (GRCm39)	missense	probably damaging	1.00
R1695:Myd88	UTSW	9	119,166,908 (GRCm39)	splice site	probably null
R1878:Myd88	UTSW	9	119,167,686 (GRCm39)	missense	probably benign	0.00
R2413:Myd88	UTSW	9	119,166,484 (GRCm39)	missense	probably benign	0.06
R3417:Myd88	UTSW	9	119,166,556 (GRCm39)	missense	possibly damaging	0.90
R3836:Myd88	UTSW	9	119,167,259 (GRCm39)	unclassified	probably benign
R3892:Myd88	UTSW	9	119,166,882 (GRCm39)	missense	possibly damaging	0.93
R3917:Myd88	UTSW	9	119,170,464 (GRCm39)	utr 5 prime	probably benign
R4081:Myd88	UTSW	9	119,169,053 (GRCm39)	unclassified	probably benign
R4637:Myd88	UTSW	9	119,167,175 (GRCm39)	splice site	probably null
R5091:Myd88	UTSW	9	119,166,889 (GRCm39)	missense	possibly damaging	0.69
R5604:Myd88	UTSW	9	119,168,829 (GRCm39)	missense	possibly damaging	0.93
R9243:Myd88	UTSW	9	119,168,773 (GRCm39)	missense	probably benign
R9415:Myd88	UTSW	9	119,167,070 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGTCCTTGCATCTGGACC -3'
(R):5'- GAGGAAGTTATCTGTTCACTGGTAG -3'

Sequencing Primer
(F):5'- CTTGCATCTGGACCTCTGGG -3'
(R):5'- ATCTGTTCACTGGTAGAGAGGGC -3'

Posted On

2015-10-08