Incidental Mutation 'R8432:Bhlhe40'
| ID |
653799 |
| 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 |
067882-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8432 (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: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
A |
G |
9: 122,197,317 (GRCm39) |
Y168C |
probably damaging |
Het |
| Agbl1 |
A |
C |
7: 76,774,434 (GRCm39) |
R1119S |
unknown |
Het |
| Agpat5 |
A |
T |
8: 18,896,777 (GRCm39) |
N68Y |
probably benign |
Het |
| Ap4b1 |
G |
A |
3: 103,728,135 (GRCm39) |
R551Q |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,088,091 (GRCm39) |
I1122V |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,226,857 (GRCm39) |
D300E |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,013,635 (GRCm38) |
V112A |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,059,635 (GRCm39) |
L324H |
unknown |
Het |
| Bnip5 |
C |
T |
17: 29,118,545 (GRCm39) |
R629H |
probably benign |
Het |
| Cacng2 |
A |
G |
15: 77,897,522 (GRCm39) |
Y96H |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,109,484 (GRCm39) |
|
probably null |
Het |
| Cdh5 |
A |
T |
8: 104,839,698 (GRCm39) |
E56D |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
| Cpne3 |
A |
T |
4: 19,535,227 (GRCm39) |
S268R |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,386,610 (GRCm39) |
I1552F |
probably benign |
Het |
| Dhrs7 |
G |
A |
12: 72,711,581 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
G |
C |
1: 53,657,195 (GRCm39) |
I860M |
possibly damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,584,576 (GRCm39) |
M660L |
probably benign |
Het |
| Ecd |
T |
A |
14: 20,370,998 (GRCm39) |
T574S |
probably benign |
Het |
| Efna5 |
A |
G |
17: 62,958,017 (GRCm39) |
Y80H |
probably damaging |
Het |
| Ercc5 |
A |
T |
1: 44,206,841 (GRCm39) |
K585* |
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,533 (GRCm39) |
S127P |
probably benign |
Het |
| Gckr |
A |
T |
5: 31,466,447 (GRCm39) |
Q474L |
possibly damaging |
Het |
| Gid8 |
A |
G |
2: 180,356,654 (GRCm39) |
N97S |
probably benign |
Het |
| Gm28042 |
G |
T |
2: 119,869,077 (GRCm39) |
C557F |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Gzf1 |
A |
G |
2: 148,532,115 (GRCm39) |
T581A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,110,930 (GRCm39) |
Y973N |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,804,860 (GRCm39) |
E2296G |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,324,583 (GRCm39) |
N4648I |
probably benign |
Het |
| Mlip |
A |
T |
9: 77,098,011 (GRCm39) |
D157E |
possibly damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,939,136 (GRCm39) |
V222A |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,912,378 (GRCm39) |
V1896A |
probably benign |
Het |
| Myo9a |
G |
A |
9: 59,687,548 (GRCm39) |
V218M |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,267,880 (GRCm39) |
T49S |
probably benign |
Het |
| Nsd1 |
T |
G |
13: 55,395,516 (GRCm39) |
M1142R |
possibly damaging |
Het |
| Or52e8 |
T |
G |
7: 104,625,199 (GRCm39) |
T2P |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,272 (GRCm39) |
Y65C |
probably damaging |
Het |
| Otulinl |
A |
T |
15: 27,664,818 (GRCm39) |
M46K |
possibly damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,909,260 (GRCm39) |
D242G |
possibly damaging |
Het |
| Pkdrej |
T |
G |
15: 85,701,494 (GRCm39) |
I1481L |
probably benign |
Het |
| Prkag1 |
T |
C |
15: 98,713,425 (GRCm39) |
I87V |
possibly damaging |
Het |
| Psma1 |
A |
T |
7: 113,873,080 (GRCm39) |
I74N |
probably damaging |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,548 (GRCm39) |
S547G |
probably damaging |
Het |
| Rbm19 |
T |
G |
5: 120,313,991 (GRCm39) |
F868V |
probably damaging |
Het |
| Riok1 |
T |
C |
13: 38,221,468 (GRCm39) |
V11A |
probably benign |
Het |
| Smpd3 |
T |
A |
8: 106,984,309 (GRCm39) |
|
probably null |
Het |
| Taar3 |
A |
T |
10: 23,826,053 (GRCm39) |
I200L |
probably benign |
Het |
| Taf12 |
A |
G |
4: 132,019,228 (GRCm39) |
Y139C |
probably damaging |
Het |
| Taf15 |
AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG |
AGAAGTGG |
11: 83,395,851 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,615,363 (GRCm39) |
N487K |
probably benign |
Het |
| Tex15 |
A |
C |
8: 34,066,572 (GRCm39) |
I2001L |
probably damaging |
Het |
| Tmem168 |
A |
G |
6: 13,602,535 (GRCm39) |
F277S |
probably benign |
Het |
| Trim67 |
TGCCGCCGCCGCCGC |
TGCCGCCGCCGC |
8: 125,520,801 (GRCm39) |
|
probably benign |
Het |
| Tspan1 |
G |
T |
4: 116,021,151 (GRCm39) |
Q116K |
probably benign |
Het |
| Ttc24 |
G |
A |
3: 87,977,366 (GRCm39) |
R325C |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,693,900 (GRCm39) |
E323K |
|
Het |
| Xirp2 |
A |
T |
2: 67,340,962 (GRCm39) |
M1068L |
probably benign |
Het |
| Zbtb38 |
A |
C |
9: 96,568,291 (GRCm39) |
M931R |
possibly damaging |
Het |
| Zfp931 |
A |
G |
2: 177,711,346 (GRCm39) |
*65Q |
probably null |
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 |
|
|
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 |
|
|
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 |
2020-10-20 |
Incidental Mutation