Incidental Mutation 'R5041:Bhlhe40'
| ID |
393209 |
| 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 |
042631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
108637590-108643886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108639546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 108
(T108I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032194]
[ENSMUST00000163617]
|
| AlphaFold |
O35185 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032194
AA Change: T108I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032194
Gene: ENSMUSG00000030103
AA Change: T108I
| 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 damaging
Transcript: ENSMUST00000163617
AA Change: T108I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132157
Gene: ENSMUSG00000030103
AA Change: T108I
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
58 |
113 |
2.52e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204550
|
| Meta Mutation Damage Score |
0.2260 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (42/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
| Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
| Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
| AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
| Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
| Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,990 (GRCm39) |
S391P |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
| Ddx3y |
T |
A |
Y: 1,266,611 (GRCm39) |
Y282F |
probably benign |
Het |
| Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
| Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
| Ly6g6c |
T |
A |
17: 35,284,428 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
| Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
| Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
| Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,260 (GRCm39) |
V4A |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,287,572 (GRCm39) |
F619L |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
| Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
| Spns3 |
G |
T |
11: 72,427,373 (GRCm39) |
Q306K |
possibly damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,805 (GRCm39) |
L1024Q |
probably damaging |
Het |
| Tent4b |
CCCAACAACGCCAACAA |
CCCAACAA |
8: 88,981,878 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
| Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (GRCm39) |
|
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 |
|
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 |
|
|
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'- GGAGCAGGAAAGACTCTTCC -3'
(R):5'- GCATTCCGTATGGCAAAATATGAC -3'
Sequencing Primer
(F):5'- GCAGGAAAGACTCTTCCTATCTTTG -3'
(R):5'- CAGCTTGTAAACCGCTCT -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation