Incidental Mutation 'R6630:Heca'
ID |
525061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Heca
|
Ensembl Gene |
ENSMUSG00000039879 |
Gene Name |
hdc homolog, cell cycle regulator |
Synonyms |
LOC380629 |
MMRRC Submission |
044752-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R6630 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
17774788-17823785 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 17783856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 104
(R104*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037879]
|
AlphaFold |
Q3V1N5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037879
AA Change: R466*
|
SMART Domains |
Protein: ENSMUSP00000040707 Gene: ENSMUSG00000039879 AA Change: R466*
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 null
Transcript: ENSMUST00000217949
AA Change: R104*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218268
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218758
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
A |
G |
9: 99,495,971 (GRCm39) |
T136A |
probably benign |
Het |
Calb1 |
T |
A |
4: 15,885,637 (GRCm39) |
D69E |
probably benign |
Het |
Cecr2 |
A |
T |
6: 120,739,139 (GRCm39) |
N1261Y |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,829,593 (GRCm39) |
N1234S |
probably damaging |
Het |
Cenpo |
G |
A |
12: 4,267,236 (GRCm39) |
|
probably benign |
Het |
Cep131 |
A |
G |
11: 119,964,641 (GRCm39) |
W272R |
probably damaging |
Het |
Cnr1 |
T |
A |
4: 33,944,659 (GRCm39) |
I349N |
probably damaging |
Het |
Dcst1 |
A |
T |
3: 89,271,633 (GRCm39) |
I50K |
possibly damaging |
Het |
Defa40 |
T |
A |
8: 21,739,904 (GRCm39) |
S43T |
probably damaging |
Het |
Dhh |
C |
T |
15: 98,792,247 (GRCm39) |
V254M |
possibly damaging |
Het |
Dhrs9 |
G |
T |
2: 69,228,067 (GRCm39) |
W227L |
possibly damaging |
Het |
Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
Map1s |
T |
C |
8: 71,366,442 (GRCm39) |
V449A |
probably damaging |
Het |
Mapk1 |
A |
G |
16: 16,844,249 (GRCm39) |
D7G |
probably damaging |
Het |
Mapre3 |
G |
T |
5: 31,019,886 (GRCm39) |
V56F |
probably damaging |
Het |
Mepce |
G |
A |
5: 137,783,183 (GRCm39) |
T381I |
probably benign |
Het |
Mga |
T |
A |
2: 119,754,140 (GRCm39) |
V804E |
probably damaging |
Het |
Myh6 |
T |
C |
14: 55,179,458 (GRCm39) |
K157E |
probably benign |
Het |
Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,723,752 (GRCm39) |
S303T |
probably damaging |
Het |
Phc2 |
C |
A |
4: 128,617,423 (GRCm39) |
P483Q |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,016,035 (GRCm39) |
L39S |
probably damaging |
Het |
Samsn1 |
G |
A |
16: 75,676,092 (GRCm39) |
A101V |
probably benign |
Het |
Spata31h1 |
A |
T |
10: 82,122,906 (GRCm39) |
M3368K |
possibly damaging |
Het |
Trbv3 |
T |
A |
6: 41,025,506 (GRCm39) |
I32K |
possibly damaging |
Het |
Trpm3 |
A |
T |
19: 22,965,347 (GRCm39) |
N1614I |
probably benign |
Het |
Ubr2 |
T |
C |
17: 47,262,910 (GRCm39) |
R1234G |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,245,032 (GRCm39) |
S1291P |
possibly damaging |
Het |
Vmn1r81 |
A |
T |
7: 11,994,584 (GRCm39) |
L8* |
probably null |
Het |
Vmn2r24 |
T |
A |
6: 123,763,981 (GRCm39) |
I286N |
probably benign |
Het |
|
Other mutations in Heca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01544:Heca
|
APN |
10 |
17,791,715 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTTAGACGGACACCATGACC -3'
(R):5'- TCTGGGCTGTCGATACCAAG -3'
Sequencing Primer
(F):5'- TTAGACGGACACCATGACCAAACC -3'
(R):5'- CAGCACTGGGGATAAAGTT -3'
|
Posted On |
2018-06-22 |