Incidental Mutation 'R4132:Heca'
| ID |
314708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heca
|
| Ensembl Gene |
ENSMUSG00000039879 |
| Gene Name |
hdc homolog, cell cycle regulator |
| Synonyms |
LOC380629 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R4132 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
17774788-17823785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17777987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 537
(S537P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037879]
|
| AlphaFold |
Q3V1N5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037879
AA Change: S537P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040707
Gene: ENSMUSG00000039879
AA Change: S537P
| 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: ENSMUST00000218268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218758
|
| Meta Mutation Damage Score |
0.1342 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
T |
C |
1: 92,812,822 (GRCm39) |
M496V |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,974,779 (GRCm39) |
I531L |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,947,953 (GRCm39) |
I617T |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhdc4 |
C |
T |
8: 122,524,804 (GRCm39) |
G375R |
possibly damaging |
Het |
| Myo5c |
G |
A |
9: 75,159,850 (GRCm39) |
V293I |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,169,241 (GRCm39) |
R672* |
probably null |
Het |
| Pcdhga2 |
T |
C |
18: 37,803,107 (GRCm39) |
I317T |
possibly damaging |
Het |
| Safb |
C |
A |
17: 56,907,848 (GRCm39) |
|
probably benign |
Het |
| Tspan5 |
C |
T |
3: 138,602,628 (GRCm39) |
R106* |
probably null |
Het |
| Ubap2l |
A |
G |
3: 89,916,491 (GRCm39) |
Y908H |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,141,159 (GRCm39) |
N372S |
probably damaging |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,819 (GRCm39) |
I156V |
probably benign |
Het |
| Zbtb8os |
A |
G |
4: 129,229,906 (GRCm39) |
Y24C |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTCCCCATTTTAGTGGCAC -3'
(R):5'- CAGTCAGTTCCCAGCATTTTG -3'
Sequencing Primer
(F):5'- CCCCATTTTAGTGGCACAAATATAC -3'
(R):5'- CAGTTCCCAGCATTTTGATTAGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation