Incidental Mutation 'R3417:Myd88'
| ID |
266852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myd88
|
| Ensembl Gene |
ENSMUSG00000032508 |
| Gene Name |
myeloid differentiation primary response gene 88 |
| Synonyms |
|
| MMRRC Submission |
040635-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3417 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119165000-119169084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119166556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 253
(I253V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035092]
[ENSMUST00000039784]
[ENSMUST00000139870]
[ENSMUST00000170400]
[ENSMUST00000175743]
[ENSMUST00000177463]
[ENSMUST00000176351]
[ENSMUST00000176397]
|
| AlphaFold |
P22366 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035092
AA Change: I253V
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035092
Gene: ENSMUSG00000032508
AA Change: I253V
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.1374 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (54/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,224,302 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,564,965 (GRCm39) |
Y201C |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,698,135 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,391,772 (GRCm39) |
T1857I |
possibly damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,888,829 (GRCm39) |
|
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Cfc1 |
A |
T |
1: 34,575,457 (GRCm39) |
R44* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,548,203 (GRCm39) |
V618M |
unknown |
Het |
| Crmp1 |
A |
T |
5: 37,426,031 (GRCm39) |
I159L |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,708,716 (GRCm39) |
V421A |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,816,854 (GRCm39) |
V4196I |
possibly damaging |
Het |
| Icosl |
A |
T |
10: 77,907,869 (GRCm39) |
N143I |
possibly damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,161 (GRCm39) |
T597A |
possibly damaging |
Het |
| Jrk |
A |
G |
15: 74,578,734 (GRCm39) |
Y184H |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,515,715 (GRCm39) |
L113P |
probably damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Map4k5 |
A |
T |
12: 69,856,038 (GRCm39) |
V716E |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,413,503 (GRCm39) |
T1264A |
possibly damaging |
Het |
| Mia3 |
T |
A |
1: 183,143,444 (GRCm39) |
D100V |
probably damaging |
Het |
| Mrgprb2 |
C |
A |
7: 48,202,281 (GRCm39) |
R148L |
probably damaging |
Het |
| Mterf1a |
A |
G |
5: 3,940,795 (GRCm39) |
S358P |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nqo2 |
G |
T |
13: 34,163,616 (GRCm39) |
V92L |
probably benign |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| Pcdhb15 |
A |
T |
18: 37,608,216 (GRCm39) |
N483Y |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,795,235 (GRCm39) |
F667S |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,929,828 (GRCm39) |
A228E |
probably damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Rtl4 |
C |
T |
X: 143,902,901 (GRCm39) |
Q108* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,869,549 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc44a1 |
G |
A |
4: 53,553,549 (GRCm39) |
V519I |
probably benign |
Het |
| Smg1 |
G |
C |
7: 117,748,076 (GRCm39) |
|
probably benign |
Het |
| Sptlc2 |
A |
G |
12: 87,393,582 (GRCm39) |
|
probably benign |
Het |
| St13 |
A |
T |
15: 81,253,651 (GRCm39) |
|
probably benign |
Het |
| Strbp |
C |
G |
2: 37,480,737 (GRCm39) |
R610T |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,649,102 (GRCm39) |
D2E |
probably benign |
Het |
| Tgm3 |
G |
A |
2: 129,889,692 (GRCm39) |
V629M |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,722,612 (GRCm39) |
V1019A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,615,908 (GRCm39) |
C14932* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
|
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 |
|
|
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'- TCCCCACTACAGTGTCAAAGG -3'
(R):5'- CAAAGCACTACAGATCTCTGAGG -3'
Sequencing Primer
(F):5'- CTACAGTGTCAAAGGAGGCAAGC -3'
(R):5'- TACAGATCTCTGAGGACGGACC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation