Incidental Mutation 'IGL02529:Mycl'
| ID |
297249 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mycl
|
| Ensembl Gene |
ENSMUSG00000028654 |
| Gene Name |
v-myc avian myelocytomatosis viral oncogene lung carcinoma derived |
| Synonyms |
bHLHe38, Lmyc-1, Mycl1, Lmyc1, L-myc |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02529
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
122889445-122896278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122890770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 152
(K152R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030407]
[ENSMUST00000106252]
[ENSMUST00000144998]
|
| AlphaFold |
P10166 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030407
AA Change: K152R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030407
Gene: ENSMUSG00000028654
AA Change: K152R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
1 |
161 |
6.7e-29 |
PFAM |
|
Pfam:Myc_N
|
137 |
230 |
1.1e-11 |
PFAM |
|
HLH
|
291 |
343 |
6.07e-14 |
SMART |
|
low complexity region
|
348 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106252
AA Change: K152R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101859
Gene: ENSMUSG00000028654
AA Change: K152R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
1 |
157 |
3.4e-31 |
PFAM |
|
Pfam:Myc_N
|
116 |
231 |
1e-9 |
PFAM |
|
HLH
|
291 |
343 |
6.07e-14 |
SMART |
|
low complexity region
|
348 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144998
|
| SMART Domains |
Protein: ENSMUSP00000117232
Gene: ENSMUSG00000028654
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myc_N
|
1 |
58 |
7.8e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147259
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a basic helix-loop-helix leucine zipper (bHLHZip) protein that heterodimerizes with another bHLHZip protein to drive transcription of targets important for proliferation, apoptosis and differentiation. Mice lacking this gene product show marked decrease in T-cell priming during bacterial and viral infections. In humans, this gene was found to be amplified in small-cell lung cancers. Alternate splicing of this gene results in multiple variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted null allele are viable, fertile and apparently healthy with no congenital defects or gross morphological/cellular alterations of the CNS, lung, kidney and GI tract. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,190 (GRCm39) |
H925L |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,931,770 (GRCm39) |
Y297N |
possibly damaging |
Het |
| Apobec3 |
C |
T |
15: 79,781,888 (GRCm39) |
|
probably benign |
Het |
| Atpaf1 |
C |
A |
4: 115,648,466 (GRCm39) |
A161E |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,627,116 (GRCm39) |
D91E |
probably damaging |
Het |
| Capg |
G |
A |
6: 72,532,829 (GRCm39) |
V98I |
probably benign |
Het |
| Ccdc7b |
C |
T |
8: 129,904,706 (GRCm39) |
L115F |
possibly damaging |
Het |
| Ces2a |
T |
A |
8: 105,463,851 (GRCm39) |
|
probably benign |
Het |
| Cldn6 |
T |
G |
17: 23,900,291 (GRCm39) |
V85G |
probably damaging |
Het |
| Clec2e |
T |
C |
6: 129,075,459 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,645 (GRCm39) |
E396G |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,078,290 (GRCm39) |
K532* |
probably null |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Gmip |
G |
A |
8: 70,269,439 (GRCm39) |
G537E |
probably damaging |
Het |
| Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
| Hdac3 |
G |
T |
18: 38,077,185 (GRCm39) |
Q230K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,976,387 (GRCm39) |
|
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,526,219 (GRCm39) |
D255G |
possibly damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,831 (GRCm39) |
R70* |
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,792 (GRCm39) |
H353Q |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,426,235 (GRCm39) |
I57T |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,658 (GRCm39) |
K618E |
probably benign |
Het |
| Limch1 |
C |
A |
5: 67,159,956 (GRCm39) |
N617K |
possibly damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,651 (GRCm39) |
F34S |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mmrn2 |
C |
A |
14: 34,120,570 (GRCm39) |
A480E |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,483 (GRCm39) |
I474V |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,649,160 (GRCm39) |
|
probably null |
Het |
| Or5p54 |
G |
T |
7: 107,554,423 (GRCm39) |
V192F |
possibly damaging |
Het |
| Otog |
A |
C |
7: 45,909,381 (GRCm39) |
D617A |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,392,596 (GRCm39) |
I267T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,471,226 (GRCm39) |
Y1392H |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,832,097 (GRCm39) |
K639N |
possibly damaging |
Het |
| Rgs19 |
C |
T |
2: 181,330,943 (GRCm39) |
R203H |
probably benign |
Het |
| Scnn1g |
C |
A |
7: 121,341,669 (GRCm39) |
|
probably benign |
Het |
| Tmem181b-ps |
T |
C |
17: 6,734,320 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r118 |
A |
G |
17: 55,917,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Zfp811 |
T |
C |
17: 33,016,789 (GRCm39) |
Y417C |
probably damaging |
Het |
|
| Other mutations in Mycl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02678:Mycl
|
APN |
4 |
122,893,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Mycl
|
UTSW |
4 |
122,894,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2348:Mycl
|
UTSW |
4 |
122,890,745 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4050:Mycl
|
UTSW |
4 |
122,890,632 (GRCm39) |
splice site |
probably null |
|
|
R4209:Mycl
|
UTSW |
4 |
122,893,715 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4798:Mycl
|
UTSW |
4 |
122,894,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Mycl
|
UTSW |
4 |
122,894,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5795:Mycl
|
UTSW |
4 |
122,890,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Mycl
|
UTSW |
4 |
122,893,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Mycl
|
UTSW |
4 |
122,893,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6854:Mycl
|
UTSW |
4 |
122,894,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Mycl
|
UTSW |
4 |
122,890,813 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation