Incidental Mutation 'R6968:Bhlhe40'
ID |
542102 |
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 |
045078-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6968 (G1)
|
Quality Score |
217.468 |
Status
|
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: 99.2%
- 20x: 97.1%
|
Validation Efficiency |
97% (57/59) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apip |
C |
T |
2: 102,919,798 (GRCm39) |
L125F |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
Arhgef5 |
T |
C |
6: 43,252,276 (GRCm39) |
V1009A |
probably benign |
Het |
Asah2 |
A |
T |
19: 31,989,913 (GRCm39) |
I489K |
probably benign |
Het |
Bace1 |
A |
G |
9: 45,766,263 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,549,840 (GRCm39) |
T348A |
possibly damaging |
Het |
Cdkn2aip |
C |
A |
8: 48,166,922 (GRCm39) |
|
probably benign |
Het |
Cep78 |
A |
C |
19: 15,959,102 (GRCm39) |
F111V |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,085,281 (GRCm39) |
L784Q |
probably damaging |
Het |
Chrna6 |
C |
T |
8: 27,896,683 (GRCm39) |
C398Y |
probably benign |
Het |
Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
Cpne2 |
C |
T |
8: 95,275,130 (GRCm39) |
P46L |
probably damaging |
Het |
Cyp2w1 |
A |
G |
5: 139,339,746 (GRCm39) |
Q112R |
probably damaging |
Het |
Entpd3 |
A |
T |
9: 120,389,722 (GRCm39) |
E336V |
probably benign |
Het |
Fbxw28 |
A |
C |
9: 109,159,856 (GRCm39) |
S197A |
probably benign |
Het |
Foxk2 |
T |
C |
11: 121,151,308 (GRCm39) |
F118L |
possibly damaging |
Het |
Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
Hinfp |
A |
C |
9: 44,209,282 (GRCm39) |
S306A |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,262,467 (GRCm39) |
V1663E |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,571,086 (GRCm39) |
I125T |
probably benign |
Het |
Jag2 |
C |
T |
12: 112,877,878 (GRCm39) |
E592K |
probably benign |
Het |
Krt23 |
T |
A |
11: 99,371,900 (GRCm39) |
E317V |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,835,857 (GRCm39) |
|
probably null |
Het |
Mast4 |
G |
T |
13: 102,934,586 (GRCm39) |
N152K |
probably damaging |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mier2 |
G |
A |
10: 79,376,476 (GRCm39) |
|
probably benign |
Het |
Mmp9 |
A |
G |
2: 164,794,860 (GRCm39) |
T584A |
probably benign |
Het |
Necab1 |
T |
C |
4: 14,957,852 (GRCm39) |
E335G |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,783,433 (GRCm39) |
N925K |
probably damaging |
Het |
Nr4a2 |
T |
C |
2: 56,998,758 (GRCm39) |
|
probably null |
Het |
Nrg2 |
T |
C |
18: 36,329,499 (GRCm39) |
I239V |
probably benign |
Het |
Nsun2 |
A |
G |
13: 69,779,409 (GRCm39) |
D562G |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,273,155 (GRCm39) |
|
probably null |
Het |
Or1e31 |
A |
G |
11: 73,690,205 (GRCm39) |
I126T |
possibly damaging |
Het |
Ormdl3 |
T |
A |
11: 98,474,941 (GRCm39) |
M1L |
probably benign |
Het |
Pcdh10 |
T |
A |
3: 45,333,977 (GRCm39) |
V97D |
probably damaging |
Het |
Pde3a |
T |
C |
6: 141,433,658 (GRCm39) |
F847L |
probably damaging |
Het |
Ppp1r13b |
C |
A |
12: 111,799,612 (GRCm39) |
V722F |
possibly damaging |
Het |
Rhoh |
A |
G |
5: 66,049,862 (GRCm39) |
D44G |
possibly damaging |
Het |
Riox1 |
C |
T |
12: 83,998,147 (GRCm39) |
R228C |
probably damaging |
Het |
Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
Saxo2 |
T |
C |
7: 82,292,969 (GRCm39) |
T43A |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
Sema3f |
C |
T |
9: 107,568,648 (GRCm39) |
|
probably null |
Het |
Snap25 |
T |
C |
2: 136,611,690 (GRCm39) |
M64T |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,597,426 (GRCm39) |
N1410S |
probably benign |
Het |
Sstr2 |
T |
C |
11: 113,515,774 (GRCm39) |
I231T |
probably damaging |
Het |
Stam |
A |
T |
2: 14,120,829 (GRCm39) |
H78L |
probably damaging |
Het |
Suox |
C |
T |
10: 128,507,702 (GRCm39) |
V109I |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,067,041 (GRCm39) |
R7075G |
probably benign |
Het |
Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
Tln1 |
C |
T |
4: 43,550,217 (GRCm39) |
R482Q |
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,781,650 (GRCm39) |
V1440A |
probably benign |
Het |
Togaram2 |
A |
G |
17: 72,016,608 (GRCm39) |
D655G |
probably damaging |
Het |
Trgv2 |
A |
T |
13: 19,520,896 (GRCm39) |
I66K |
probably damaging |
Het |
Vmn1r113 |
A |
T |
7: 20,521,876 (GRCm39) |
I223F |
probably damaging |
Het |
Vmn2r62 |
T |
A |
7: 42,437,866 (GRCm39) |
H206L |
probably benign |
Het |
Zan |
T |
A |
5: 137,460,075 (GRCm39) |
Y1272F |
unknown |
Het |
Zfp39 |
T |
C |
11: 58,782,306 (GRCm39) |
H152R |
probably benign |
Het |
Zfp41 |
T |
A |
15: 75,490,310 (GRCm39) |
Y87* |
probably null |
Het |
Zfp933 |
A |
T |
4: 147,910,654 (GRCm39) |
L314H |
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 |
|
R6659:Bhlhe40
|
UTSW |
6 |
108,641,818 (GRCm39) |
frame shift |
probably null |
|
R6734: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'- ACCTGAAATCTTCCCAGCTCG -3'
(R):5'- GGAACCCATCAGATCACTGC -3'
Sequencing Primer
(F):5'- TGCTTCCAGGAAACCATTGG -3'
(R):5'- TCAGATCACTGCCCGCGAAG -3'
|
Posted On |
2018-11-28 |