Mutagenetix > Incidental Mutation

Incidental Mutation 'R5091:Myd88'

387764

Institutional Source

Beutler Lab

Gene Symbol

Myd88

Ensembl Gene

ENSMUSG00000032508

Gene Name

myeloid differentiation primary response gene 88

Synonyms

MMRRC Submission

042680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119165000-119169084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119166889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 223 (V223F)

Ref Sequence

ENSEMBL: ENSMUSP00000035092 (fasta)

Gene Model

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

AlphaFold

P22366

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035092
AA Change: V223F

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035092
Gene: ENSMUSG00000032508
AA Change: V223F

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

noncoding transcript
Transcript: ENSMUST00000176796

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

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

0.6383

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,701,057 (GRCm39)	S174P	probably damaging	Het
4931414P19Rik	T	C	14: 54,823,168 (GRCm39)	E343G	probably damaging	Het
Abca14	T	C	7: 119,851,497 (GRCm39)	V825A	probably damaging	Het
Abca8b	G	T	11: 109,827,210 (GRCm39)	T1466K	possibly damaging	Het
Adcy8	A	G	15: 64,678,553 (GRCm39)	S467P	probably damaging	Het
Agbl4	T	C	4: 110,976,237 (GRCm39)	V198A	possibly damaging	Het
Agpat4	A	G	17: 12,417,699 (GRCm39)	K80R	probably benign	Het
Akap8	T	C	17: 32,535,208 (GRCm39)	T269A	probably benign	Het
Ankhd1	A	T	18: 36,758,080 (GRCm39)	I925F	possibly damaging	Het
Aste1	A	G	9: 105,282,203 (GRCm39)	Y57C	probably damaging	Het
Axdnd1	A	G	1: 156,247,980 (GRCm39)	S7P	possibly damaging	Het
BC051019	T	A	7: 109,319,789 (GRCm39)	R91S	probably null	Het
Cavin2	C	A	1: 51,340,398 (GRCm39)	N358K	probably benign	Het
Cd2	T	C	3: 101,190,355 (GRCm39)	N196S	probably benign	Het
Clca3a1	C	T	3: 144,436,483 (GRCm39)	V867I	probably benign	Het
Col6a4	T	A	9: 105,952,262 (GRCm39)	K545N	probably damaging	Het
Cps1	T	A	1: 67,268,679 (GRCm39)		probably null	Het
Cyp2c65	A	T	19: 39,076,009 (GRCm39)		probably null	Het
Dcaf6	T	C	1: 165,157,572 (GRCm39)	D856G	possibly damaging	Het
Epcam	T	C	17: 87,949,580 (GRCm39)	I181T	probably damaging	Het
Esrp2	A	G	8: 106,859,061 (GRCm39)	S562P	probably damaging	Het
Fcgbpl1	A	C	7: 27,856,383 (GRCm39)	I2057L	probably benign	Het
Ffar4	A	G	19: 38,085,627 (GRCm39)	D18G	probably benign	Het
Gen1	C	T	12: 11,296,347 (GRCm39)	V337I	probably damaging	Het
Gimap8	C	T	6: 48,633,581 (GRCm39)	P467S	possibly damaging	Het
Gnl3	T	A	14: 30,738,803 (GRCm39)	H82L	possibly damaging	Het
Grid2	T	C	6: 64,053,862 (GRCm39)	S354P	probably benign	Het
Ighmbp2	T	A	19: 3,315,084 (GRCm39)	T779S	possibly damaging	Het
Ints15	C	T	5: 143,293,443 (GRCm39)	E345K	possibly damaging	Het
Kif19a	C	A	11: 114,673,923 (GRCm39)	T348N	probably damaging	Het
Lrrc15	T	A	16: 30,092,172 (GRCm39)	N389I	probably damaging	Het
Mrps26	A	G	2: 130,405,886 (GRCm39)	Y63C	probably damaging	Het
Nox4	T	A	7: 87,025,450 (GRCm39)	W526R	probably damaging	Het
Nrg2	A	T	18: 36,185,838 (GRCm39)	N300K	probably damaging	Het
Nsmf	T	C	2: 24,950,464 (GRCm39)		probably benign	Het
Patl2	A	C	2: 121,954,283 (GRCm39)	H429Q	probably benign	Het
Pcdhb12	A	T	18: 37,568,907 (GRCm39)	K18*	probably null	Het
Peg10	T	A	6: 4,754,511 (GRCm39)	D97E	probably benign	Het
Runx1t1	C	T	4: 13,846,830 (GRCm39)	Q205*	probably null	Het
Selenon	T	C	4: 134,275,284 (GRCm39)	K138R	probably damaging	Het
Slc13a3	T	C	2: 165,262,000 (GRCm39)	E369G	probably benign	Het
Sorcs1	A	G	19: 50,248,190 (GRCm39)		probably null	Het
Sptbn4	A	T	7: 27,068,816 (GRCm39)	M499K	probably damaging	Het
Sra1	A	T	18: 36,803,012 (GRCm39)		probably benign	Het
Stra6	T	C	9: 58,048,429 (GRCm39)	L174P	probably damaging	Het
Syngr1	T	C	15: 80,000,086 (GRCm39)	Y66H	probably damaging	Het
Synpo	G	T	18: 60,735,831 (GRCm39)	S466*	probably null	Het
Tenm3	T	A	8: 48,795,343 (GRCm39)	M595L	probably benign	Het
Tnks	T	C	8: 35,308,963 (GRCm39)	T1099A	probably benign	Het
Tram1l1	G	T	3: 124,115,400 (GRCm39)	V187F	possibly damaging	Het
Trappc11	T	C	8: 47,965,639 (GRCm39)	E529G	probably benign	Het
Usp17la	T	C	7: 104,510,139 (GRCm39)	V248A	probably damaging	Het
Virma	T	C	4: 11,519,392 (GRCm39)	Y880H	probably benign	Het
Vmn1r214	C	T	13: 23,219,571 (GRCm39)	T355I	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,205 (GRCm39)	K784R	possibly damaging	Het
Wrap53	C	T	11: 69,453,273 (GRCm39)	W389*	probably null	Het
Zfp748	A	G	13: 67,689,638 (GRCm39)	S541P	probably 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
R4637:Myd88	UTSW	9	119,167,175 (GRCm39)	splice site	probably null
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'- TACATAAGGAAGTACACAGGTCCG -3'
(R):5'- CCATTGCCAGCGAGCTAATTG -3'

Sequencing Primer
(F):5'- AGGTCCGTCCTCAGAGATCTGTAG -3'
(R):5'- TTGGTTAAACATCTAAGAGGGTAGG -3'

Posted On

2016-06-06