Incidental Mutation 'R4081:Myd88'
| ID |
316891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myd88
|
| Ensembl Gene |
ENSMUSG00000032508 |
| Gene Name |
myeloid differentiation primary response gene 88 |
| Synonyms |
|
| MMRRC Submission |
040977-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4081 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119165000-119169084 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 119169053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035092]
[ENSMUST00000039784]
[ENSMUST00000139870]
[ENSMUST00000170400]
[ENSMUST00000175743]
[ENSMUST00000176351]
[ENSMUST00000177463]
[ENSMUST00000176397]
[ENSMUST00000176546]
|
| 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 |
unknown
Transcript: ENSMUST00000139870
AA Change: D10E
|
| SMART Domains |
Protein: ENSMUSP00000115746
Gene: ENSMUSG00000032508
AA Change: D10E
| 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: ENSMUST00000177463
|
| SMART Domains |
Protein: ENSMUSP00000135310
Gene: ENSMUSG00000036138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
35 |
199 |
3.2e-50 |
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 |
|
| Meta Mutation Damage Score |
0.1066 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Adad1 |
A |
G |
3: 37,118,512 (GRCm39) |
|
probably null |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
| Ccnf |
T |
C |
17: 24,442,872 (GRCm39) |
*778W |
probably null |
Het |
| Cd53 |
T |
C |
3: 106,669,461 (GRCm39) |
H179R |
probably benign |
Het |
| Cit |
G |
T |
5: 116,086,109 (GRCm39) |
R891L |
probably damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,046,733 (GRCm39) |
|
probably null |
Het |
| Cntrl |
C |
A |
2: 35,051,938 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,065,137 (GRCm39) |
D2148G |
probably damaging |
Het |
| Cpa5 |
T |
C |
6: 30,631,228 (GRCm39) |
S381P |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,851,035 (GRCm39) |
V1612D |
probably damaging |
Het |
| Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,002 (GRCm39) |
I193N |
possibly damaging |
Het |
| Gdi2 |
T |
A |
13: 3,598,866 (GRCm39) |
C17S |
probably benign |
Het |
| Gm5436 |
T |
A |
12: 84,305,489 (GRCm39) |
|
noncoding transcript |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,040 (GRCm39) |
Y139C |
possibly damaging |
Het |
| Insr |
A |
T |
8: 3,261,391 (GRCm39) |
M321K |
probably benign |
Het |
| Ippk |
T |
A |
13: 49,599,852 (GRCm39) |
L237Q |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,368,796 (GRCm39) |
I149N |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,081,256 (GRCm39) |
S1291P |
probably benign |
Het |
| Mylk3 |
G |
A |
8: 86,055,311 (GRCm39) |
L549F |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,723 (GRCm39) |
S1811P |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,838,970 (GRCm39) |
|
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,583,987 (GRCm39) |
T202S |
probably damaging |
Het |
| Ptprr |
A |
T |
10: 116,072,615 (GRCm39) |
K329N |
probably benign |
Het |
| Rgl3 |
T |
A |
9: 21,898,971 (GRCm39) |
H156L |
possibly damaging |
Het |
| Sema6b |
A |
G |
17: 56,435,307 (GRCm39) |
V312A |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,609,032 (GRCm39) |
I606V |
probably benign |
Het |
| Slco1a1 |
T |
C |
6: 141,881,688 (GRCm39) |
E148G |
probably damaging |
Het |
| Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,735,734 (GRCm39) |
V135A |
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,757,277 (GRCm39) |
E154G |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,230,764 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,795,595 (GRCm39) |
P296S |
probably damaging |
Het |
| Tbx15 |
A |
G |
3: 99,220,370 (GRCm39) |
D48G |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,873 (GRCm39) |
S101G |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,733 (GRCm39) |
I100T |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,487,818 (GRCm39) |
Y860* |
probably null |
Het |
| Vwa3b |
C |
T |
1: 37,074,905 (GRCm39) |
T24I |
probably damaging |
Het |
| Zfp541 |
G |
A |
7: 15,806,060 (GRCm39) |
S65N |
probably benign |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
|
R4634:Myd88
|
UTSW |
9 |
119,167,175 (GRCm39) |
splice site |
probably null |
|
|
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'- GGATCTCCAAGTACTCGAAGC -3'
(R):5'- TAAATTCTCACACCTTCGAGGG -3'
Sequencing Primer
(F):5'- ATCTCCTCCGCCAGCAAGG -3'
(R):5'- ACACCTTCGAGGGGAGGTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation