Incidental Mutation 'IGL02254:Hepacam2'
ID |
286538 |
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: 0.272)
|
Stock # |
IGL02254
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
3457202-3498319 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3483421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 196
(H196L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049985]
[ENSMUST00000200854]
[ENSMUST00000201607]
|
AlphaFold |
Q4VAH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049985
AA Change: H196L
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000058882 Gene: ENSMUSG00000044156 AA Change: H196L
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
AA Change: H120L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000144362 Gene: ENSMUSG00000044156 AA Change: H120L
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
AA Change: H120L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000143834 Gene: ENSMUSG00000044156 AA Change: H120L
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agk |
T |
C |
6: 40,358,180 (GRCm39) |
W211R |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,506,827 (GRCm39) |
|
probably null |
Het |
Calcrl |
A |
G |
2: 84,178,552 (GRCm39) |
W259R |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,961,238 (GRCm39) |
C1911S |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,661,143 (GRCm39) |
|
probably benign |
Het |
Csad |
C |
A |
15: 102,094,872 (GRCm39) |
G63* |
probably null |
Het |
H2bc8 |
G |
T |
13: 23,755,609 (GRCm39) |
M1I |
probably null |
Het |
Hc |
G |
A |
2: 34,874,836 (GRCm39) |
A115V |
probably damaging |
Het |
Kcnh6 |
G |
A |
11: 105,911,533 (GRCm39) |
E640K |
probably damaging |
Het |
Mrgprx2 |
G |
A |
7: 48,132,686 (GRCm39) |
T10I |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,777,109 (GRCm39) |
Y912H |
probably damaging |
Het |
Plin4 |
G |
T |
17: 56,411,733 (GRCm39) |
T766K |
probably damaging |
Het |
Ric8b |
A |
G |
10: 84,816,000 (GRCm39) |
D417G |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,371,733 (GRCm39) |
Q4846P |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,580,449 (GRCm39) |
Q320R |
possibly damaging |
Het |
Slc35f3 |
A |
G |
8: 127,115,862 (GRCm39) |
E263G |
probably damaging |
Het |
Slc5a4b |
A |
T |
10: 75,896,264 (GRCm39) |
W564R |
probably benign |
Het |
Taf4 |
C |
T |
2: 179,562,977 (GRCm39) |
V965M |
probably benign |
Het |
Trpc3 |
C |
T |
3: 36,705,669 (GRCm39) |
G509R |
probably null |
Het |
Ttn |
T |
C |
2: 76,708,309 (GRCm39) |
|
probably benign |
Het |
Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
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 |
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 |
IGL02620:Hepacam2
|
APN |
6 |
3,487,280 (GRCm39) |
splice site |
probably benign |
|
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 |