Incidental Mutation 'IGL01544:Heca'
| ID |
90263 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Heca
|
| Ensembl Gene |
ENSMUSG00000039879 |
| Gene Name |
hdc homolog, cell cycle regulator |
| Synonyms |
LOC380629 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
IGL01544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
17774788-17823785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17791715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 114
(Y114H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037879]
|
| AlphaFold |
Q3V1N5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037879
AA Change: Y114H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040707
Gene: ENSMUSG00000039879
AA Change: Y114H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gkub1
|
29 |
61 |
8e-3 |
SMART |
|
Pfam:HECA
|
94 |
192 |
2.8e-42 |
PFAM |
|
Pfam:Headcase
|
335 |
535 |
2.8e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218758
|
| 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 the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Bbx |
C |
A |
16: 50,095,140 (GRCm39) |
E59* |
probably null |
Het |
| Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,828,933 (GRCm39) |
V324L |
probably damaging |
Het |
| Cry1 |
T |
A |
10: 84,982,360 (GRCm39) |
K329* |
probably null |
Het |
| Dhtkd1 |
T |
C |
2: 5,918,342 (GRCm39) |
N627S |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,962,270 (GRCm39) |
T437S |
probably benign |
Het |
| Elovl1 |
G |
A |
4: 118,288,107 (GRCm39) |
|
probably null |
Het |
| Hrh4 |
A |
G |
18: 13,148,950 (GRCm39) |
N104S |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,115 (GRCm39) |
K73N |
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,948 (GRCm39) |
V252A |
possibly damaging |
Het |
| Klhl36 |
A |
G |
8: 120,596,755 (GRCm39) |
E152G |
possibly damaging |
Het |
| Lamp5 |
T |
A |
2: 135,910,990 (GRCm39) |
L241Q |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,307,896 (GRCm39) |
R447H |
probably damaging |
Het |
| Mmp24 |
G |
A |
2: 155,641,807 (GRCm39) |
G212R |
probably damaging |
Het |
| Mpp3 |
A |
G |
11: 101,909,485 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,488,437 (GRCm39) |
|
probably benign |
Het |
| Mynn |
C |
A |
3: 30,661,854 (GRCm39) |
S312* |
probably null |
Het |
| Neb |
T |
A |
2: 52,182,917 (GRCm39) |
I1010F |
possibly damaging |
Het |
| Nes |
T |
C |
3: 87,885,271 (GRCm39) |
S1177P |
possibly damaging |
Het |
| Noct |
T |
C |
3: 51,155,469 (GRCm39) |
V79A |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,465 (GRCm39) |
D114G |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,687,233 (GRCm39) |
|
probably null |
Het |
| Sqor |
G |
A |
2: 122,634,266 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,467,953 (GRCm39) |
W4309L |
probably damaging |
Het |
| Thoc7 |
A |
C |
14: 13,953,435 (GRCm38) |
Y72D |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,647,754 (GRCm39) |
I43V |
possibly damaging |
Het |
| Timm44 |
G |
T |
8: 4,325,888 (GRCm39) |
|
probably benign |
Het |
| Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,209,567 (GRCm39) |
M644T |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,056,007 (GRCm39) |
L300F |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,814,554 (GRCm39) |
T54A |
probably benign |
Het |
|
| Other mutations in Heca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01971:Heca
|
APN |
10 |
17,791,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
E0374:Heca
|
UTSW |
10 |
17,783,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Heca
|
UTSW |
10 |
17,783,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0218:Heca
|
UTSW |
10 |
17,791,463 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0608:Heca
|
UTSW |
10 |
17,791,039 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4131:Heca
|
UTSW |
10 |
17,777,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4132:Heca
|
UTSW |
10 |
17,777,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Heca
|
UTSW |
10 |
17,791,057 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4675:Heca
|
UTSW |
10 |
17,791,057 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4736:Heca
|
UTSW |
10 |
17,790,935 (GRCm39) |
nonsense |
probably null |
|
|
R4789:Heca
|
UTSW |
10 |
17,783,895 (GRCm39) |
nonsense |
probably null |
|
|
R4819:Heca
|
UTSW |
10 |
17,783,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Heca
|
UTSW |
10 |
17,790,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5412:Heca
|
UTSW |
10 |
17,778,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:Heca
|
UTSW |
10 |
17,791,462 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6321:Heca
|
UTSW |
10 |
17,790,991 (GRCm39) |
splice site |
probably null |
|
|
R6630:Heca
|
UTSW |
10 |
17,783,856 (GRCm39) |
nonsense |
probably null |
|
|
R7100:Heca
|
UTSW |
10 |
17,791,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7381:Heca
|
UTSW |
10 |
17,791,272 (GRCm39) |
nonsense |
probably null |
|
|
R7664:Heca
|
UTSW |
10 |
17,778,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Heca
|
UTSW |
10 |
17,778,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Heca
|
UTSW |
10 |
17,791,424 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8967:Heca
|
UTSW |
10 |
17,790,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation