Incidental Mutation 'R4131:Heca'
| ID |
314682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heca
|
| Ensembl Gene |
ENSMUSG00000039879 |
| Gene Name |
hdc homolog, cell cycle regulator |
| Synonyms |
LOC380629 |
| MMRRC Submission |
040994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R4131 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,359,030 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Art3 |
A |
T |
5: 92,540,421 (GRCm39) |
M55L |
probably benign |
Het |
| C1d |
C |
T |
11: 17,214,054 (GRCm39) |
|
probably benign |
Het |
| Ces1c |
A |
G |
8: 93,827,312 (GRCm39) |
M484T |
probably damaging |
Het |
| Cisd3 |
T |
C |
11: 97,579,257 (GRCm39) |
V133A |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,223,937 (GRCm39) |
I230V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Igha |
C |
A |
12: 113,222,449 (GRCm39) |
|
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Klk1b3 |
T |
A |
7: 43,851,111 (GRCm39) |
N181K |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,205,180 (GRCm39) |
R220S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,917,170 (GRCm39) |
V2252I |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,313,607 (GRCm39) |
C17Y |
probably damaging |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,744 (GRCm39) |
S2* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,959,170 (GRCm39) |
Y217* |
probably null |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,190,953 (GRCm39) |
Q141L |
probably damaging |
Het |
| Prelid2 |
T |
G |
18: 42,084,224 (GRCm39) |
D6A |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,006,422 (GRCm39) |
S263P |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,757,646 (GRCm39) |
D105N |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,757,328 (GRCm39) |
|
probably null |
Het |
| Sema4g |
T |
A |
19: 44,987,358 (GRCm39) |
F501L |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,874,791 (GRCm39) |
E537G |
probably null |
Het |
| Try4 |
T |
A |
6: 41,282,335 (GRCm39) |
Y218* |
probably null |
Het |
| Zbtb40 |
G |
T |
4: 136,722,707 (GRCm39) |
S790R |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGTCCCCATTTTAGTGGC -3'
(R):5'- TCAGTCAGTTCCCAGCATTTTG -3'
Sequencing Primer
(F):5'- CCCCATTTTAGTGGCACAAATATAC -3'
(R):5'- CAGTTCCCAGCATTTTGATTAGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation