Incidental Mutation 'R6659:Bhlhe40'
| ID |
526759 |
| 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 |
044779-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6659 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
108637590-108643886 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TG to TGG
at 108641818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
at position 254
(254)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032194]
[ENSMUST00000163617]
|
| AlphaFold |
O35185 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032194
AA Change: 254
|
| SMART Domains |
Protein: ENSMUSP00000032194
Gene: ENSMUSG00000030103
AA Change: 254
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,950,133 (GRCm39) |
D212G |
probably damaging |
Het |
| Add1 |
C |
T |
5: 34,770,639 (GRCm39) |
A250V |
possibly damaging |
Het |
| Atxn2 |
A |
G |
5: 121,916,027 (GRCm39) |
N411S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,500,395 (GRCm39) |
T788A |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,817,537 (GRCm39) |
T721A |
probably damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,717,171 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,905,243 (GRCm39) |
K1241E |
probably damaging |
Het |
| Engase |
T |
A |
11: 118,372,142 (GRCm39) |
Y145N |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,087,091 (GRCm39) |
A674D |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 40,694,046 (GRCm39) |
G672R |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Iars2 |
T |
A |
1: 185,020,273 (GRCm39) |
I954F |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,785,120 (GRCm39) |
I310F |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,594 (GRCm39) |
V199A |
possibly damaging |
Het |
| Kctd12 |
G |
T |
14: 103,219,622 (GRCm39) |
D85E |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,125,630 (GRCm39) |
R2929H |
probably damaging |
Het |
| Lgmn |
T |
A |
12: 102,368,951 (GRCm39) |
Y176F |
probably benign |
Het |
| Lipo3 |
A |
G |
19: 33,533,828 (GRCm39) |
F335L |
possibly damaging |
Het |
| Map2k3 |
T |
C |
11: 60,833,150 (GRCm39) |
S46P |
probably benign |
Het |
| Megf8 |
C |
A |
7: 25,058,159 (GRCm39) |
H2144Q |
probably benign |
Het |
| Neb |
A |
T |
2: 52,124,365 (GRCm39) |
W3694R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,861,684 (GRCm38) |
E580G |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,929,835 (GRCm39) |
P5930S |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,986,477 (GRCm39) |
F621L |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,509,348 (GRCm39) |
I732N |
probably damaging |
Het |
| Plpbp |
T |
A |
8: 27,542,307 (GRCm39) |
I214N |
possibly damaging |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,048 (GRCm39) |
S573P |
probably benign |
Het |
| Prg4 |
C |
A |
1: 150,336,432 (GRCm39) |
C97F |
probably damaging |
Het |
| Prmt2 |
T |
C |
10: 76,053,208 (GRCm39) |
D269G |
possibly damaging |
Het |
| Ptbp3 |
T |
A |
4: 59,517,640 (GRCm39) |
L80F |
probably damaging |
Het |
| Reep1 |
T |
A |
6: 71,750,179 (GRCm39) |
F64I |
probably damaging |
Het |
| Srcap |
C |
A |
7: 127,141,563 (GRCm39) |
P1720Q |
probably damaging |
Het |
| Ssr1 |
A |
T |
13: 38,171,666 (GRCm39) |
F124I |
probably damaging |
Het |
| Tbx18 |
A |
G |
9: 87,589,864 (GRCm39) |
L358P |
probably damaging |
Het |
| Tfpt |
T |
C |
7: 3,623,835 (GRCm39) |
K71E |
probably benign |
Het |
| Tmem132a |
C |
A |
19: 10,837,685 (GRCm39) |
G542C |
probably damaging |
Het |
| Tmem135 |
C |
A |
7: 88,956,371 (GRCm39) |
L81F |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,956,372 (GRCm39) |
L81* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Washc5 |
A |
G |
15: 59,212,739 (GRCm39) |
|
probably null |
Het |
| Zfp24 |
T |
C |
18: 24,150,391 (GRCm39) |
E173G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,410,155 (GRCm39) |
I1814T |
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 |
|
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 |
|
|
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'- GGACCTGAAATCTTCCCAGC -3'
(R):5'- GGAACCCATCAGATCACTGC -3'
Sequencing Primer
(F):5'- TGCTTCCAGGAAACCATTGG -3'
(R):5'- TCAGATCACTGCCCGCGAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation