Incidental Mutation 'R1486:Bhlhe40'
ID |
163462 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
039539-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1486 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
108637590-108643886 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108641890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 278
(I278T)
|
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: I278T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032194 Gene: ENSMUSG00000030103 AA Change: I278T
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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730015C16Rik |
A |
G |
4: 108,705,143 (GRCm39) |
E19G |
probably benign |
Het |
A730018C14Rik |
T |
C |
12: 112,382,129 (GRCm39) |
|
noncoding transcript |
Het |
Acrbp |
T |
A |
6: 125,027,585 (GRCm39) |
Y78N |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,589,166 (GRCm39) |
S422G |
probably benign |
Het |
Apba2 |
T |
C |
7: 64,386,696 (GRCm39) |
V429A |
probably damaging |
Het |
Atf6 |
A |
G |
1: 170,622,260 (GRCm39) |
C454R |
probably damaging |
Het |
Birc6 |
G |
T |
17: 74,946,815 (GRCm39) |
V2845L |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,862,274 (GRCm39) |
I1008V |
probably benign |
Het |
Catsperg1 |
C |
A |
7: 28,884,920 (GRCm39) |
K900N |
probably damaging |
Het |
Cep20 |
A |
G |
16: 14,118,004 (GRCm39) |
V172A |
probably benign |
Het |
Chek2 |
T |
G |
5: 110,989,093 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,579,338 (GRCm39) |
L633P |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,725,098 (GRCm39) |
S4352T |
probably damaging |
Het |
Eif3c |
C |
T |
7: 126,163,893 (GRCm39) |
R50Q |
probably damaging |
Het |
Eml6 |
A |
C |
11: 29,755,114 (GRCm39) |
I887S |
possibly damaging |
Het |
Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
Grm4 |
A |
G |
17: 27,653,691 (GRCm39) |
L706P |
probably damaging |
Het |
Irak3 |
T |
C |
10: 119,978,966 (GRCm39) |
D495G |
probably damaging |
Het |
Itga9 |
T |
G |
9: 118,455,518 (GRCm39) |
V64G |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,230,309 (GRCm39) |
I759T |
probably damaging |
Het |
Kdm3b |
T |
A |
18: 34,967,357 (GRCm39) |
F1721I |
probably damaging |
Het |
Lrrc8c |
T |
A |
5: 105,755,395 (GRCm39) |
V390E |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,301,449 (GRCm39) |
T1195I |
probably benign |
Het |
Mphosph8 |
C |
T |
14: 56,926,496 (GRCm39) |
T646I |
probably damaging |
Het |
Ncdn |
A |
T |
4: 126,642,391 (GRCm39) |
V422D |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,308,372 (GRCm39) |
E548G |
probably damaging |
Het |
Nt5el |
T |
C |
13: 105,246,291 (GRCm39) |
V284A |
probably benign |
Het |
Nup37 |
T |
C |
10: 87,984,116 (GRCm39) |
Y11H |
probably damaging |
Het |
Or1ad1 |
G |
A |
11: 50,875,608 (GRCm39) |
V27I |
probably benign |
Het |
Or51f1e |
A |
T |
7: 102,747,637 (GRCm39) |
I230F |
probably damaging |
Het |
Or52s19 |
T |
A |
7: 103,008,201 (GRCm39) |
M67L |
possibly damaging |
Het |
Or8j3c |
T |
A |
2: 86,253,825 (GRCm39) |
H65L |
probably damaging |
Het |
Pcgf1 |
T |
G |
6: 83,056,107 (GRCm39) |
S70R |
probably damaging |
Het |
Potefam1 |
T |
G |
2: 111,030,703 (GRCm39) |
Q402P |
possibly damaging |
Het |
Prps1l3 |
C |
T |
12: 57,285,573 (GRCm39) |
A121V |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,792,917 (GRCm39) |
Y57H |
probably damaging |
Het |
Rbm12b2 |
A |
G |
4: 12,094,841 (GRCm39) |
R567G |
probably benign |
Het |
Rep15 |
T |
A |
6: 146,934,577 (GRCm39) |
F139I |
probably damaging |
Het |
Ros1 |
T |
C |
10: 52,048,954 (GRCm39) |
Y92C |
probably damaging |
Het |
Sin3b |
A |
G |
8: 73,477,141 (GRCm39) |
T803A |
probably benign |
Het |
Skint11 |
G |
A |
4: 114,052,015 (GRCm39) |
|
probably null |
Het |
Sobp |
T |
G |
10: 42,898,518 (GRCm39) |
S356R |
probably benign |
Het |
Spats2l |
T |
C |
1: 57,939,970 (GRCm39) |
I228T |
probably damaging |
Het |
Sqor |
G |
A |
2: 122,649,565 (GRCm39) |
|
probably null |
Het |
Stox1 |
T |
C |
10: 62,500,415 (GRCm39) |
D715G |
probably benign |
Het |
Tln2 |
C |
A |
9: 67,219,121 (GRCm39) |
G275W |
probably damaging |
Het |
Tmc5 |
C |
T |
7: 118,272,655 (GRCm39) |
P942S |
probably benign |
Het |
Tor4a |
A |
T |
2: 25,084,691 (GRCm39) |
I404N |
possibly damaging |
Het |
Ttc3 |
G |
A |
16: 94,248,988 (GRCm39) |
R1162Q |
probably damaging |
Het |
Zfp451 |
T |
C |
1: 33,816,808 (GRCm39) |
K164E |
probably damaging |
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 |
IGL02950:Bhlhe40
|
APN |
6 |
108,641,503 (GRCm39) |
missense |
probably damaging |
1.00 |
teedoff
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R0360:Bhlhe40
|
UTSW |
6 |
108,641,711 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCATTGGACTCGGCTCCCAAAG -3'
(R):5'- GCATTTCTCCAGCATAGGCAGGTAG -3'
Sequencing Primer
(F):5'- AACTGTGTGCCAGTCATCCAG -3'
(R):5'- GTAGGCAGTGGCCGATG -3'
|
Posted On |
2014-03-28 |