Mutagenetix > Incidental Mutation

Incidental Mutation 'R4637:Myd88'

350764

Institutional Source

Beutler Lab

Gene Symbol

Myd88

Ensembl Gene

ENSMUSG00000032508

Gene Name

myeloid differentiation primary response gene 88

Synonyms

MMRRC Submission

042010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4637 (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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (27/28)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art1	T	A	7: 101,755,544 (GRCm39)	V12E	probably damaging	Het
Ccdc121	G	A	5: 31,645,435 (GRCm39)	R396Q	probably benign	Het
Ccdc180	A	G	4: 45,914,443 (GRCm39)	S653G	probably benign	Het
Clic6	T	C	16: 92,293,949 (GRCm39)		probably benign	Het
Fras1	T	A	5: 96,925,947 (GRCm39)	L3717Q	probably damaging	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Gtf2f1	G	T	17: 57,311,534 (GRCm39)	P292H	probably benign	Het
Hcn1	A	T	13: 118,112,249 (GRCm39)	T738S	unknown	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmbs	A	G	9: 44,250,834 (GRCm39)	S130P	probably damaging	Het
Kif1b	A	T	4: 149,283,768 (GRCm39)	I1299N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Muc17	A	T	5: 137,175,502 (GRCm39)	L56Q	probably damaging	Het
Nol6	G	A	4: 41,121,788 (GRCm39)	R249W	probably damaging	Het
Or4g17	C	T	2: 111,209,927 (GRCm39)	T194I	probably benign	Het
Pcdhb1	T	C	18: 37,398,802 (GRCm39)	V251A	possibly damaging	Het
Prkcd	A	G	14: 30,320,722 (GRCm39)	S633P	probably benign	Het
Rarb	T	C	14: 16,574,875 (GRCm38)	H47R	possibly damaging	Het
Slc16a14	A	G	1: 84,885,003 (GRCm39)	V512A	possibly damaging	Het
Slc34a3	C	T	2: 25,119,473 (GRCm39)	V466M	possibly damaging	Het
Stat3	A	G	11: 100,784,056 (GRCm39)	S623P	probably damaging	Het
Vmn2r16	T	G	5: 109,478,280 (GRCm39)	S12A	probably benign	Het
Zfhx4	C	G	3: 5,468,464 (GRCm39)	P2874R	probably damaging	Het
Zfp3	T	C	11: 70,662,181 (GRCm39)	S47P	probably benign	Het
Zfp791	T	C	8: 85,836,514 (GRCm39)	E450G	possibly damaging	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
R4634: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'- AGTCCTTGCATCTGGACCTC -3'
(R):5'- ATCTGGGAGGAAGTTATCTGTTCAC -3'

Sequencing Primer
(F):5'- CTGGGTTTCATGCATTCACC -3'
(R):5'- AAGTTATCTGTTCACTGGTAGAGAG -3'

Posted On

2015-10-08