Incidental Mutation 'R8319:Bhlhe40'
ID |
641851 |
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 |
067856-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8319 (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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
4921517D22Rik |
A |
T |
13: 59,838,486 (GRCm39) |
D115E |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,214,315 (GRCm39) |
L197Q |
probably damaging |
Het |
Adamts14 |
T |
G |
10: 61,057,706 (GRCm39) |
N547T |
probably benign |
Het |
Ampd3 |
T |
A |
7: 110,394,982 (GRCm39) |
S301R |
probably benign |
Het |
Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
Atl1 |
A |
T |
12: 70,002,093 (GRCm39) |
T351S |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,614,735 (GRCm39) |
I1315V |
|
Het |
Col12a1 |
C |
T |
9: 79,555,979 (GRCm39) |
G2013R |
probably damaging |
Het |
Cpne2 |
A |
G |
8: 95,280,040 (GRCm39) |
D153G |
probably benign |
Het |
Cryzl1 |
T |
C |
16: 91,489,251 (GRCm39) |
S205G |
probably benign |
Het |
Cux1 |
C |
T |
5: 136,594,251 (GRCm39) |
A5T |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,395,669 (GRCm39) |
|
probably null |
Het |
Dnajc13 |
G |
A |
9: 104,067,590 (GRCm39) |
P1190S |
probably benign |
Het |
Fbxw7 |
T |
A |
3: 84,881,859 (GRCm39) |
V526E |
|
Het |
Fig4 |
C |
A |
10: 41,139,097 (GRCm39) |
G369C |
probably damaging |
Het |
Gabra1 |
C |
T |
11: 42,026,315 (GRCm39) |
A326T |
probably damaging |
Het |
Gbe1 |
G |
A |
16: 70,284,964 (GRCm39) |
G429S |
probably benign |
Het |
Gtf3c5 |
A |
T |
2: 28,460,506 (GRCm39) |
H364Q |
probably benign |
Het |
Hcfc2 |
T |
A |
10: 82,574,201 (GRCm39) |
I125N |
probably damaging |
Het |
Hnrnpul1 |
A |
T |
7: 25,453,902 (GRCm39) |
D53E |
probably benign |
Het |
Ift56 |
T |
A |
6: 38,382,880 (GRCm39) |
H338Q |
probably damaging |
Het |
Il18 |
A |
T |
9: 50,492,818 (GRCm39) |
D128V |
possibly damaging |
Het |
Intu |
T |
A |
3: 40,608,202 (GRCm39) |
S71R |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,775,940 (GRCm39) |
E206G |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,571,343 (GRCm39) |
S179T |
probably damaging |
Het |
Mcub |
A |
G |
3: 129,727,328 (GRCm39) |
F93L |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 67,267,803 (GRCm39) |
Y5C |
unknown |
Het |
Naip1 |
C |
A |
13: 100,565,721 (GRCm39) |
V354L |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,358,167 (GRCm39) |
V1023A |
probably benign |
Het |
Ndufaf1 |
A |
G |
2: 119,490,568 (GRCm39) |
L166P |
probably damaging |
Het |
Ninl |
A |
T |
2: 150,801,827 (GRCm39) |
L147H |
probably damaging |
Het |
Or4c12 |
A |
G |
2: 89,774,024 (GRCm39) |
V145A |
possibly damaging |
Het |
Or51b17 |
A |
G |
7: 103,542,636 (GRCm39) |
I102T |
probably damaging |
Het |
Otogl |
C |
T |
10: 107,689,127 (GRCm39) |
|
probably null |
Het |
Otulin |
AT |
ATT |
15: 27,606,404 (GRCm39) |
|
probably null |
Het |
Phf11b |
A |
C |
14: 59,576,146 (GRCm39) |
L30R |
probably damaging |
Het |
Prdm13 |
G |
T |
4: 21,679,327 (GRCm39) |
H388N |
unknown |
Het |
Pwwp2b |
T |
C |
7: 138,835,099 (GRCm39) |
V180A |
probably damaging |
Het |
Reep4 |
T |
A |
14: 70,783,951 (GRCm39) |
S23T |
probably damaging |
Het |
Rusc2 |
T |
A |
4: 43,425,378 (GRCm39) |
L1161Q |
probably damaging |
Het |
Scgb1b3 |
G |
A |
7: 31,075,404 (GRCm39) |
|
probably null |
Het |
Scn10a |
G |
T |
9: 119,499,455 (GRCm39) |
N279K |
probably benign |
Het |
Smurf2 |
A |
G |
11: 106,715,578 (GRCm39) |
L643S |
probably damaging |
Het |
Sox12 |
G |
A |
2: 152,239,192 (GRCm39) |
P143S |
unknown |
Het |
Specc1 |
C |
T |
11: 62,009,501 (GRCm39) |
T339I |
possibly damaging |
Het |
Tas2r139 |
T |
C |
6: 42,118,720 (GRCm39) |
V284A |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,040,107 (GRCm39) |
C330* |
probably null |
Het |
Ttn |
A |
G |
2: 76,537,298 (GRCm39) |
S34877P |
possibly damaging |
Het |
Zfp568 |
T |
C |
7: 29,697,629 (GRCm39) |
S104P |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,912,910 (GRCm39) |
H50Y |
possibly 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 |
|
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 |
|
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'- CCTGAAATCTTCCCAGCTCG -3'
(R):5'- GGAACCCATCAGATCACTGC -3'
Sequencing Primer
(F):5'- TGCTTCCAGGAAACCATTGG -3'
(R):5'- TCAGATCACTGCCCGCGAAG -3'
|
Posted On |
2020-07-28 |