Incidental Mutation 'IGL02620:Hepacam2'
| ID |
300844 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hepacam2
|
| Ensembl Gene |
ENSMUSG00000044156 |
| Gene Name |
HEPACAM family member 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
IGL02620
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
3457202-3498319 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 3487280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049985]
[ENSMUST00000200854]
[ENSMUST00000201607]
|
| AlphaFold |
Q4VAH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049985
|
| SMART Domains |
Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
39 |
142 |
7.77e-1 |
SMART |
|
IGc2
|
165 |
227 |
6.21e-9 |
SMART |
|
IG
|
256 |
334 |
1.87e0 |
SMART |
|
transmembrane domain
|
351 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200854
|
| SMART Domains |
Protein: ENSMUSP00000144362
Gene: ENSMUSG00000044156
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
2 |
66 |
2.88e1 |
SMART |
|
IGc2
|
89 |
151 |
6.21e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201607
|
| SMART Domains |
Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
2 |
66 |
1.2e-1 |
SMART |
|
IGc2
|
89 |
151 |
2.5e-11 |
SMART |
|
Blast:IG
|
180 |
206 |
9e-11 |
BLAST |
|
| 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 a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,231,943 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,090,094 (GRCm39) |
V4174A |
possibly damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,302,704 (GRCm39) |
L108* |
probably null |
Het |
| Cdon |
C |
T |
9: 35,364,095 (GRCm39) |
T71I |
probably benign |
Het |
| Chdh |
T |
C |
14: 29,753,096 (GRCm39) |
W2R |
probably damaging |
Het |
| Ckap5 |
T |
G |
2: 91,436,714 (GRCm39) |
L1605V |
probably benign |
Het |
| Cluh |
C |
T |
11: 74,555,893 (GRCm39) |
Q819* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cwc27 |
C |
A |
13: 104,938,714 (GRCm39) |
|
probably benign |
Het |
| Elk4 |
C |
A |
1: 131,946,109 (GRCm39) |
A329D |
probably benign |
Het |
| Fbxo40 |
T |
C |
16: 36,786,442 (GRCm39) |
H709R |
probably benign |
Het |
| Flna |
A |
G |
X: 73,273,582 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
G |
T |
6: 91,755,587 (GRCm39) |
D592E |
possibly damaging |
Het |
| H2-T24 |
T |
G |
17: 36,328,183 (GRCm39) |
N100T |
probably damaging |
Het |
| Ighv2-2 |
T |
A |
12: 113,551,912 (GRCm39) |
T109S |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,012,789 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,205,525 (GRCm39) |
M540T |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,836,582 (GRCm39) |
S82P |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,939,476 (GRCm39) |
Y20C |
probably benign |
Het |
| Milr1 |
C |
A |
11: 106,645,744 (GRCm39) |
S95R |
probably damaging |
Het |
| Mtnr1b |
A |
C |
9: 15,785,617 (GRCm39) |
V47G |
possibly damaging |
Het |
| Nme1nme2 |
G |
T |
11: 93,843,682 (GRCm39) |
R173S |
possibly damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,825 (GRCm39) |
K81* |
probably null |
Het |
| Phactr2 |
T |
C |
10: 13,167,632 (GRCm39) |
R100G |
probably damaging |
Het |
| Potefam1 |
C |
T |
2: 111,041,970 (GRCm39) |
V322I |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,810 (GRCm39) |
Y997H |
probably damaging |
Het |
| Pramel3a |
A |
G |
X: 134,211,158 (GRCm39) |
M397V |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,959,739 (GRCm39) |
K79E |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Raf1 |
A |
T |
6: 115,609,848 (GRCm39) |
|
probably benign |
Het |
| Rptor |
T |
C |
11: 119,671,413 (GRCm39) |
L292P |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,554 (GRCm39) |
D174G |
probably damaging |
Het |
| Tbcd |
C |
T |
11: 121,352,081 (GRCm39) |
T146M |
probably damaging |
Het |
| Zfp458 |
T |
A |
13: 67,406,058 (GRCm39) |
H127L |
probably damaging |
Het |
|
| Other mutations in Hepacam2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01937:Hepacam2
|
APN |
6 |
3,487,117 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01945:Hepacam2
|
APN |
6 |
3,487,117 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02254:Hepacam2
|
APN |
6 |
3,483,421 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02445:Hepacam2
|
APN |
6 |
3,483,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02546:Hepacam2
|
APN |
6 |
3,483,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02697:Hepacam2
|
APN |
6 |
3,476,036 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0089:Hepacam2
|
UTSW |
6 |
3,487,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0208:Hepacam2
|
UTSW |
6 |
3,467,505 (GRCm39) |
splice site |
probably benign |
|
|
R0230:Hepacam2
|
UTSW |
6 |
3,463,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0299:Hepacam2
|
UTSW |
6 |
3,476,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Hepacam2
|
UTSW |
6 |
3,476,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Hepacam2
|
UTSW |
6 |
3,483,479 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1350:Hepacam2
|
UTSW |
6 |
3,467,530 (GRCm39) |
nonsense |
probably null |
|
|
R1663:Hepacam2
|
UTSW |
6 |
3,483,439 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1749:Hepacam2
|
UTSW |
6 |
3,483,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Hepacam2
|
UTSW |
6 |
3,487,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Hepacam2
|
UTSW |
6 |
3,463,378 (GRCm39) |
splice site |
probably benign |
|
|
R3911:Hepacam2
|
UTSW |
6 |
3,494,477 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R4281:Hepacam2
|
UTSW |
6 |
3,475,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4290:Hepacam2
|
UTSW |
6 |
3,487,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4371:Hepacam2
|
UTSW |
6 |
3,486,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Hepacam2
|
UTSW |
6 |
3,475,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4890:Hepacam2
|
UTSW |
6 |
3,487,231 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5330:Hepacam2
|
UTSW |
6 |
3,483,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5331:Hepacam2
|
UTSW |
6 |
3,483,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5677:Hepacam2
|
UTSW |
6 |
3,466,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Hepacam2
|
UTSW |
6 |
3,466,200 (GRCm39) |
splice site |
probably null |
|
|
R5844:Hepacam2
|
UTSW |
6 |
3,476,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5979:Hepacam2
|
UTSW |
6 |
3,476,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Hepacam2
|
UTSW |
6 |
3,483,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Hepacam2
|
UTSW |
6 |
3,487,199 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8458:Hepacam2
|
UTSW |
6 |
3,483,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Hepacam2
|
UTSW |
6 |
3,467,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9525:Hepacam2
|
UTSW |
6 |
3,476,046 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9762:Hepacam2
|
UTSW |
6 |
3,486,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hepacam2
|
UTSW |
6 |
3,483,352 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2015-04-16 |
Incidental Mutation