Mutagenetix > Incidental Mutation

Incidental Mutation 'R3836:Myd88'

275651

Institutional Source

Beutler Lab

Gene Symbol

Myd88

Ensembl Gene

ENSMUSG00000032508

Gene Name

myeloid differentiation primary response gene 88

Synonyms

MMRRC Submission

040891-MU

Accession Numbers

VEGA: OTTMUST00000040319; MGI: 108005

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119335934-119341411 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 119338193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135310 (fasta)

Gene Model

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

AlphaFold

P22366

Predicted Effect

probably benign
Transcript: ENSMUST00000035092

SMART Domains

Protein: ENSMUSP00000035092
Gene: ENSMUSG00000032508

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 benign
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 benign
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

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: 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: ENSMUST00000176546

SMART Domains

Protein: ENSMUSP00000134981
Gene: ENSMUSG00000036138

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176796

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,812,385		noncoding transcript	Het
Aasdh	A	G	5: 76,878,468	V903A	probably benign	Het
Ankrd6	T	A	4: 32,817,531	D271V	probably damaging	Het
Ano10	C	T	9: 122,263,763	V167M	possibly damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
AW551984	T	C	9: 39,597,908		probably benign	Het
Bub1	G	T	2: 127,814,886	P442Q	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Comp	A	G	8: 70,373,859	D28G	probably benign	Het
Crym	A	G	7: 120,201,216	V61A	probably benign	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Dtna	A	T	18: 23,625,102	Q488L	probably damaging	Het
Ecel1	A	C	1: 87,150,656	L565R	probably damaging	Het
Extl2	T	C	3: 116,024,357	I106T	probably benign	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fnbp4	A	G	2: 90,746,785	T154A	probably damaging	Het
Fsip2	T	C	2: 82,950,946	L32P	probably damaging	Het
Gldc	T	A	19: 30,118,675		probably benign	Het
Gm12695	T	G	4: 96,762,097	T171P	probably damaging	Het
Gm4868	A	C	5: 125,847,950		noncoding transcript	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Gstm5	T	C	3: 107,896,362	I37T	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Itga11	G	T	9: 62,769,283	V918L	probably benign	Het
Itgb2l	T	A	16: 96,426,167	M559L	probably benign	Het
Itih1	T	A	14: 30,935,828	N429Y	probably damaging	Het
Madd	A	T	2: 91,154,643		probably null	Het
Map3k11	A	G	19: 5,690,803	E186G	possibly damaging	Het
Mbl2	T	C	19: 30,239,514	F242S	probably damaging	Het
Mcph1	A	G	8: 18,622,659	T102A	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mkln1	A	G	6: 31,468,336	D389G	probably damaging	Het
Mmrn1	G	A	6: 60,944,847	S96N	probably benign	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nprl3	C	T	11: 32,233,082	E502K	probably damaging	Het
Nudt5	T	A	2: 5,866,347		probably null	Het
Olfr1045	A	G	2: 86,198,662	V30A	probably benign	Het
Olfr191	A	G	16: 59,086,223	S87P	possibly damaging	Het
Olfr691	G	A	7: 105,337,210	P169S	probably benign	Het
Olfr810	C	T	10: 129,791,170	V140M	probably benign	Het
Plaa	T	C	4: 94,586,922		probably null	Het
Ptk2b	A	G	14: 66,156,342	L894P	probably damaging	Het
Rab8b	A	G	9: 66,847,796	S183P	probably benign	Het
Reln	A	G	5: 21,911,014	Y2999H	probably damaging	Het
Rims4	A	G	2: 163,918,653	S11P	possibly damaging	Het
Scel	A	G	14: 103,592,386	K448R	possibly damaging	Het
Serpinb10	A	T	1: 107,536,086	T33S	probably benign	Het
Sgip1	A	G	4: 102,867,700		probably null	Het
Spata5	T	A	3: 37,433,643	Y428N	possibly damaging	Het
Sv2b	A	T	7: 75,157,428	M158K	probably damaging	Het
Tmem132d	A	T	5: 127,784,885	I724N	probably damaging	Het
Tnrc6c	A	G	11: 117,723,229	T738A	probably benign	Het
Tpbg	T	C	9: 85,843,114		probably benign	Het
Tubb2a	G	T	13: 34,075,311	N165K	probably benign	Het
Ubtfl1	A	T	9: 18,409,237	E20D	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r25	C	A	6: 123,853,085	D36Y	probably damaging	Het
Wdhd1	A	G	14: 47,245,054	V946A	probably benign	Het
Wnk1	T	C	6: 119,950,043	E1265G	probably damaging	Het
Zmynd8	G	A	2: 165,858,099	T14I	probably benign	Het

Other mutations in Myd88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Myd88	APN	9	119337352	unclassified	probably benign
Bahia	UTSW	9	119338109	splice site	probably null
Dani_alves	UTSW	9	119337823	missense	possibly damaging	0.69
lackadaisical	UTSW	9	119338692	missense	probably damaging	1.00
Myd88rev1	UTSW	9	119337394	missense	possibly damaging	0.90
pococurante	UTSW	9	119338114	missense	probably damaging	1.00
R1695:Myd88	UTSW	9	119337842	splice site	probably null
R1878:Myd88	UTSW	9	119338620	missense	probably benign	0.00
R2413:Myd88	UTSW	9	119337418	missense	probably benign	0.06
R3417:Myd88	UTSW	9	119337490	missense	possibly damaging	0.90
R3892:Myd88	UTSW	9	119337816	missense	possibly damaging	0.93
R3917:Myd88	UTSW	9	119341398	utr 5 prime	probably benign
R4081:Myd88	UTSW	9	119339987	unclassified	probably benign
R4634:Myd88	UTSW	9	119338109	splice site	probably null
R4637:Myd88	UTSW	9	119338109	splice site	probably null
R5091:Myd88	UTSW	9	119337823	missense	possibly damaging	0.69
R5604:Myd88	UTSW	9	119339763	missense	possibly damaging	0.93
R9243:Myd88	UTSW	9	119339707	missense	probably benign
R9415:Myd88	UTSW	9	119338004	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGTTTCATGCATTCACCCAC -3'
(R):5'- CATAGTTAACCGGGATTTCATCTG -3'

Sequencing Primer
(F):5'- CTCAATTAGCTCGCTGGCAATGG -3'
(R):5'- CATCTGGGAGGAAGTTATCTGTTCAC -3'

Posted On

2015-04-06