Incidental Mutation 'IGL01897:Heyl'
| ID |
179421 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Heyl
|
| Ensembl Gene |
ENSMUSG00000032744 |
| Gene Name |
hairy/enhancer-of-split related with YRPW motif-like |
| Synonyms |
Hesr3, Hey3, Hrt3, bHLHb33 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
123127349-123143663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123140400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 320
(I320F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040821]
|
| AlphaFold |
Q9DBX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040821
AA Change: I320F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040576
Gene: ENSMUSG00000032744
AA Change: I320F
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
49 |
104 |
8.72e-15 |
SMART |
|
ORANGE
|
114 |
162 |
1.72e-14 |
SMART |
|
low complexity region
|
205 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127172
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced TrkC+ sensory neurons in the dorsal root ganglia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
G |
1: 125,346,025 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,813,448 (GRCm39) |
S906T |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,670 (GRCm39) |
D641G |
probably benign |
Het |
| Ccdc42 |
G |
A |
11: 68,485,101 (GRCm39) |
R205H |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,829,986 (GRCm39) |
|
probably null |
Het |
| Cfi |
T |
C |
3: 129,652,034 (GRCm39) |
V235A |
probably damaging |
Het |
| Ctps1 |
T |
A |
4: 120,424,476 (GRCm39) |
D46V |
probably damaging |
Het |
| Cyb5d1 |
A |
T |
11: 69,284,587 (GRCm39) |
D188E |
probably benign |
Het |
| Cyp19a1 |
G |
T |
9: 54,075,813 (GRCm39) |
T414N |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,792,217 (GRCm39) |
C242* |
probably null |
Het |
| Eif3b |
A |
T |
5: 140,411,202 (GRCm39) |
T218S |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,236 (GRCm39) |
V1618E |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,350,800 (GRCm39) |
I1007N |
probably damaging |
Het |
| Lat2 |
A |
G |
5: 134,635,481 (GRCm39) |
|
probably benign |
Het |
| Lipm |
A |
T |
19: 34,098,708 (GRCm39) |
D394V |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,782,977 (GRCm39) |
I307K |
possibly damaging |
Het |
| Mief1 |
T |
C |
15: 80,132,709 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
C |
T |
19: 8,925,130 (GRCm39) |
Q333* |
probably null |
Het |
| Neb |
T |
A |
2: 52,170,587 (GRCm39) |
E1695V |
possibly damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,177,879 (GRCm39) |
N510K |
probably benign |
Het |
| Or5af1 |
T |
C |
11: 58,722,465 (GRCm39) |
F162L |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,853,825 (GRCm39) |
|
probably benign |
Het |
| Pdgfc |
A |
G |
3: 81,111,639 (GRCm39) |
E198G |
possibly damaging |
Het |
| Pkdcc |
T |
A |
17: 83,527,548 (GRCm39) |
I242N |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,972,824 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
T |
G |
17: 44,147,325 (GRCm39) |
D54E |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,171,369 (GRCm39) |
Y202N |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,453,309 (GRCm39) |
L1827P |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc15a |
G |
T |
2: 164,041,896 (GRCm39) |
Q21K |
probably benign |
Het |
| Zfp951 |
C |
A |
5: 104,963,149 (GRCm39) |
S139I |
probably benign |
Het |
|
| Other mutations in Heyl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Heyl
|
APN |
4 |
123,140,423 (GRCm39) |
makesense |
probably null |
|
|
IGL01420:Heyl
|
APN |
4 |
123,133,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02130:Heyl
|
APN |
4 |
123,140,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0347:Heyl
|
UTSW |
4 |
123,127,733 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0661:Heyl
|
UTSW |
4 |
123,139,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Heyl
|
UTSW |
4 |
123,135,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Heyl
|
UTSW |
4 |
123,135,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Heyl
|
UTSW |
4 |
123,135,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Heyl
|
UTSW |
4 |
123,139,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Heyl
|
UTSW |
4 |
123,140,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8757:Heyl
|
UTSW |
4 |
123,127,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Heyl
|
UTSW |
4 |
123,139,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Heyl
|
UTSW |
4 |
123,139,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Heyl
|
UTSW |
4 |
123,133,974 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation