Incidental Mutation 'IGL02950:Bhlhe40'
ID |
364927 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bhlhe40
|
Ensembl Gene |
ENSMUSG00000030103 |
Gene Name |
basic helix-loop-helix family, member e40 |
Synonyms |
C130042M06Rik, Clast5, DEC1, CR8, Stra14, cytokine response gene 8, Sharp2, eip1 (E47 interaction protein 1), Bhlhb2, Stra13 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02950
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
108637590-108643886 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 108641503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 149
(C149F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032194
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032194]
[ENSMUST00000163617]
|
AlphaFold |
O35185 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032194
AA Change: C149F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032194 Gene: ENSMUSG00000030103 AA Change: C149F
Domain | Start | End | E-Value | Type |
HLH
|
58 |
113 |
2.52e-11 |
SMART |
ORANGE
|
140 |
184 |
5.91e-13 |
SMART |
low complexity region
|
230 |
248 |
N/A |
INTRINSIC |
low complexity region
|
372 |
399 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137478
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163617
|
SMART Domains |
Protein: ENSMUSP00000132157 Gene: ENSMUSG00000030103
Domain | Start | End | E-Value | Type |
HLH
|
58 |
113 |
2.52e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166346
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204550
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with Arntl or compete for E-box binding sites in the promoter of Per1 and repress Clock/Arntl's transactivation of Per1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014] PHENOTYPE: Homozygous mutation of this gene results in impaired immune function and hyperplasia of the lymphoid organs. Aging mutant animals exhibit autoimmune disease. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted, knock-out(2) Targeted, other(2) |
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,814,406 (GRCm39) |
S1129C |
possibly damaging |
Het |
Afm |
A |
T |
5: 90,679,466 (GRCm39) |
D320V |
probably damaging |
Het |
Ap5m1 |
C |
T |
14: 49,311,392 (GRCm39) |
T154I |
probably benign |
Het |
Bcl11b |
G |
A |
12: 107,956,065 (GRCm39) |
T28I |
probably benign |
Het |
Bmper |
A |
T |
9: 23,310,790 (GRCm39) |
D408V |
probably damaging |
Het |
C1rl |
G |
A |
6: 124,485,820 (GRCm39) |
C397Y |
probably damaging |
Het |
C2cd4c |
A |
G |
10: 79,448,665 (GRCm39) |
S161P |
probably damaging |
Het |
Cemip2 |
A |
T |
19: 21,819,564 (GRCm39) |
K1118N |
probably benign |
Het |
Cep290 |
T |
C |
10: 100,376,191 (GRCm39) |
|
probably benign |
Het |
Cp |
T |
C |
3: 20,042,165 (GRCm39) |
Y978H |
probably damaging |
Het |
Csf2ra |
T |
C |
19: 61,215,607 (GRCm39) |
D37G |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,801 (GRCm39) |
V596A |
probably damaging |
Het |
Dnmt3l |
A |
G |
10: 77,886,785 (GRCm39) |
S82G |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,331,753 (GRCm39) |
Y46C |
probably damaging |
Het |
Eno2 |
A |
T |
6: 124,740,081 (GRCm39) |
D318E |
probably damaging |
Het |
Gm43738 |
A |
C |
3: 88,996,355 (GRCm39) |
L120R |
probably damaging |
Het |
Hgsnat |
C |
A |
8: 26,461,729 (GRCm39) |
C29F |
probably damaging |
Het |
Hltf |
T |
A |
3: 20,130,736 (GRCm39) |
V318D |
probably benign |
Het |
Kcnh8 |
A |
G |
17: 53,263,795 (GRCm39) |
H764R |
probably benign |
Het |
Kcnq3 |
A |
G |
15: 65,892,142 (GRCm39) |
F411S |
probably benign |
Het |
Lpcat4 |
C |
A |
2: 112,074,387 (GRCm39) |
N287K |
possibly damaging |
Het |
Ltbp4 |
A |
C |
7: 27,006,143 (GRCm39) |
F1512V |
probably damaging |
Het |
Mctp1 |
A |
T |
13: 77,172,929 (GRCm39) |
L868F |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,713,360 (GRCm39) |
|
probably benign |
Het |
Or5g23 |
A |
T |
2: 85,438,501 (GRCm39) |
L251Q |
possibly damaging |
Het |
Otub2 |
A |
G |
12: 103,369,632 (GRCm39) |
D237G |
probably damaging |
Het |
Pax3 |
A |
G |
1: 78,079,997 (GRCm39) |
V463A |
probably benign |
Het |
Podn |
T |
C |
4: 107,875,048 (GRCm39) |
K573R |
possibly damaging |
Het |
Ppp5c |
A |
C |
7: 16,740,835 (GRCm39) |
S378A |
probably benign |
Het |
Pramel29 |
A |
G |
4: 143,939,531 (GRCm39) |
V2A |
probably benign |
Het |
Prl2a1 |
T |
A |
13: 27,988,914 (GRCm39) |
L13Q |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,641,526 (GRCm39) |
T70A |
probably damaging |
Het |
Ralyl |
C |
A |
3: 14,104,781 (GRCm39) |
N15K |
probably damaging |
Het |
Rbck1 |
C |
T |
2: 152,172,997 (GRCm39) |
R17Q |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,796,884 (GRCm39) |
Y973H |
probably damaging |
Het |
Sh2d6 |
A |
G |
6: 72,492,285 (GRCm39) |
V260A |
probably damaging |
Het |
Spen |
G |
A |
4: 141,196,819 (GRCm39) |
P3559S |
probably damaging |
Het |
Tbcd |
T |
A |
11: 121,494,535 (GRCm39) |
V1032D |
probably damaging |
Het |
Trav12-1 |
T |
A |
14: 53,776,024 (GRCm39) |
V59E |
probably damaging |
Het |
Unc93a |
T |
A |
17: 13,344,455 (GRCm39) |
Q29L |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,808,525 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Bhlhe40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00495:Bhlhe40
|
APN |
6 |
108,638,139 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01146:Bhlhe40
|
APN |
6 |
108,641,901 (GRCm39) |
missense |
possibly damaging |
0.60 |
teedoff
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R0360:Bhlhe40
|
UTSW |
6 |
108,641,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1486:Bhlhe40
|
UTSW |
6 |
108,641,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R5041:Bhlhe40
|
UTSW |
6 |
108,639,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R5179:Bhlhe40
|
UTSW |
6 |
108,642,169 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5913:Bhlhe40
|
UTSW |
6 |
108,642,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6281:Bhlhe40
|
UTSW |
6 |
108,641,423 (GRCm39) |
splice site |
probably null |
|
R6283:Bhlhe40
|
UTSW |
6 |
108,641,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R6405:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6406:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6595:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6654:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6656:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6657:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6659:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6734:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6968:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R7105:Bhlhe40
|
UTSW |
6 |
108,641,997 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7323:Bhlhe40
|
UTSW |
6 |
108,642,242 (GRCm39) |
missense |
probably benign |
0.42 |
R7395:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R7399:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R7472:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R7563:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R7726:Bhlhe40
|
UTSW |
6 |
108,639,559 (GRCm39) |
missense |
probably benign |
|
R8058:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R8319:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R8320:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R8380:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R8381:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R8428:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R8431:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R8432:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R8988:Bhlhe40
|
UTSW |
6 |
108,639,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Bhlhe40
|
UTSW |
6 |
108,642,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R9582:Bhlhe40
|
UTSW |
6 |
108,638,467 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2015-12-18 |