Incidental Mutation 'R6406:Bhlhe40'
| ID |
516299 |
| 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 |
044551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6406 (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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,817,865 (GRCm39) |
P29L |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,261,484 (GRCm39) |
N567S |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,852,948 (GRCm39) |
N505K |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,825,874 (GRCm39) |
D356V |
probably damaging |
Het |
| Bpifb6 |
C |
A |
2: 153,746,457 (GRCm39) |
T117K |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,097,835 (GRCm39) |
E418G |
possibly damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,364 (GRCm39) |
K84* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,852,079 (GRCm39) |
L90P |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,387,827 (GRCm39) |
D91G |
probably damaging |
Het |
| Dock1 |
C |
A |
7: 134,747,215 (GRCm39) |
Q1509K |
probably benign |
Het |
| Fzd1 |
T |
G |
5: 4,806,089 (GRCm39) |
T498P |
probably damaging |
Het |
| Galnt12 |
A |
G |
4: 47,122,534 (GRCm39) |
N271S |
probably benign |
Het |
| Gm12888 |
A |
G |
4: 121,176,654 (GRCm39) |
I49T |
possibly damaging |
Het |
| Gria4 |
A |
T |
9: 4,427,077 (GRCm39) |
W788R |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,307,540 (GRCm39) |
A379V |
probably damaging |
Het |
| Islr2 |
A |
G |
9: 58,107,263 (GRCm39) |
V43A |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,929,563 (GRCm39) |
N782I |
probably damaging |
Het |
| Klhl8 |
T |
A |
5: 104,010,981 (GRCm39) |
I539F |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,839,257 (GRCm39) |
C750* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,388,361 (GRCm39) |
T2355S |
unknown |
Het |
| Lrrc8a |
A |
G |
2: 30,147,103 (GRCm39) |
H639R |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,131,224 (GRCm39) |
D442V |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,846,343 (GRCm39) |
|
probably null |
Het |
| Msantd1 |
C |
A |
5: 35,080,665 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
C |
A |
6: 125,150,841 (GRCm39) |
A785S |
probably benign |
Het |
| Ncbp2 |
CTCGTCTGG |
C |
16: 31,775,159 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
T |
C |
3: 125,232,150 (GRCm39) |
S240P |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,385,946 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-1 |
C |
T |
5: 101,811,677 (GRCm39) |
A142T |
unknown |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,404 (GRCm39) |
H205R |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,184 (GRCm39) |
I205T |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,590,651 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,573,098 (GRCm39) |
M322T |
probably benign |
Het |
| Parp2 |
A |
G |
14: 51,056,934 (GRCm39) |
N353D |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,503,412 (GRCm39) |
N452S |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,762,586 (GRCm39) |
V1397A |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,535,665 (GRCm39) |
L1675Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,703 (GRCm39) |
I1157V |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,878,312 (GRCm39) |
C217F |
probably damaging |
Het |
| Spats1 |
T |
A |
17: 45,768,191 (GRCm39) |
H125L |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,269,595 (GRCm39) |
V330A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,069,846 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,977,963 (GRCm39) |
F301L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,032,924 (GRCm39) |
E221K |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,466,377 (GRCm39) |
T295A |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,101,093 (GRCm39) |
Q35R |
probably damaging |
Het |
| Tsnaxip1 |
C |
T |
8: 106,570,615 (GRCm39) |
T578I |
probably benign |
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 |
|
|
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'- AAATCTTCCCAGCTCGTCAC -3'
(R):5'- GGAACCCATCAGATCACTGC -3'
Sequencing Primer
(F):5'- TGCTTCCAGGAAACCATTGG -3'
(R):5'- TCAGATCACTGCCCGCGAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation