Incidental Mutation 'R5737:Heca'
| ID |
444586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Heca
|
| Ensembl Gene |
ENSMUSG00000039879 |
| Gene Name |
hdc homolog, cell cycle regulator |
| Synonyms |
LOC380629 |
| MMRRC Submission |
043195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R5737 (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 T
at 17791462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 198
(M198K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037879]
|
| AlphaFold |
Q3V1N5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037879
AA Change: M198K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040707
Gene: ENSMUSG00000039879
AA Change: M198K
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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 |
|---|
| 4833439L19Rik |
A |
G |
13: 54,707,055 (GRCm39) |
V78A |
probably damaging |
Het |
| Albfm1 |
G |
T |
5: 90,720,642 (GRCm39) |
C271F |
probably damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,356,189 (GRCm39) |
D67V |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,623,100 (GRCm39) |
D253E |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,059,069 (GRCm39) |
K159R |
probably damaging |
Het |
| Atrnl1 |
C |
T |
19: 57,766,320 (GRCm39) |
A1219V |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,718,893 (GRCm39) |
V386I |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,403,946 (GRCm39) |
T1015A |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,328,804 (GRCm39) |
M999V |
probably benign |
Het |
| Ccer1 |
A |
T |
10: 97,530,546 (GRCm39) |
H403L |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,393,702 (GRCm39) |
I1433N |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,281,348 (GRCm39) |
V531A |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,156,125 (GRCm39) |
V175A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,658,421 (GRCm39) |
K920R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,656,483 (GRCm39) |
R1608C |
probably damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,325,593 (GRCm39) |
|
probably null |
Het |
| Igkv8-24 |
A |
T |
6: 70,194,122 (GRCm39) |
S29T |
probably benign |
Het |
| Lipo2 |
A |
C |
19: 33,699,096 (GRCm39) |
N311K |
probably damaging |
Het |
| Lmo7 |
T |
G |
14: 102,124,672 (GRCm39) |
I266S |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,362 (GRCm39) |
E558V |
probably benign |
Het |
| Nelfa |
T |
A |
5: 34,056,457 (GRCm39) |
|
probably null |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Psmg2 |
T |
C |
18: 67,779,107 (GRCm39) |
S92P |
possibly damaging |
Het |
| Rasa2 |
C |
T |
9: 96,452,718 (GRCm39) |
|
probably null |
Het |
| Slc6a3 |
A |
C |
13: 73,692,923 (GRCm39) |
N181T |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,128,294 (GRCm39) |
M136T |
probably benign |
Het |
| Tmem178b |
A |
C |
6: 40,222,575 (GRCm39) |
M97L |
possibly damaging |
Het |
| Tnfaip8l1 |
A |
G |
17: 56,478,950 (GRCm39) |
D80G |
probably benign |
Het |
| Tomt |
T |
C |
7: 101,549,524 (GRCm39) |
T255A |
probably benign |
Het |
| Uqcc5 |
A |
G |
14: 30,850,676 (GRCm39) |
I22T |
probably benign |
Het |
| Vmn2r26 |
G |
T |
6: 124,016,408 (GRCm39) |
V291F |
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 |
|
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'- ATAGGCTGCAGAACCGACTG -3'
(R):5'- GCACCTGGATGCATCTTCAGTG -3'
Sequencing Primer
(F):5'- AACCGACTGTCTTTTCCTGGGAG -3'
(R):5'- GATGCATCTTCAGTGCTTCTACGAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation