Incidental Mutation 'IGL02546:Hepacam2'
| ID |
297834 |
| 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 # |
IGL02546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
3457202-3498319 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3483568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 147
(V147A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049985]
[ENSMUST00000200854]
[ENSMUST00000201607]
|
| AlphaFold |
Q4VAH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049985
AA Change: V147A
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: V147A
| 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 |
possibly damaging
Transcript: ENSMUST00000200854
AA Change: V71A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144362
Gene: ENSMUSG00000044156
AA Change: V71A
| 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 |
possibly damaging
Transcript: ENSMUST00000201607
AA Change: V71A
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143834
Gene: ENSMUSG00000044156
AA Change: V71A
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
T |
12: 52,927,521 (GRCm39) |
V144L |
probably damaging |
Het |
| Carmil1 |
A |
T |
13: 24,299,482 (GRCm39) |
N347K |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,468,520 (GRCm39) |
Y334C |
probably damaging |
Het |
| Dmxl2 |
C |
A |
9: 54,273,698 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
C |
T |
6: 137,456,064 (GRCm39) |
A806T |
probably benign |
Het |
| Evl |
A |
G |
12: 108,614,678 (GRCm39) |
N24S |
possibly damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,980,847 (GRCm39) |
|
probably null |
Het |
| Gm14179 |
A |
T |
11: 99,634,019 (GRCm39) |
|
|
Het |
| Jmjd1c |
C |
A |
10: 67,061,115 (GRCm39) |
P1156Q |
possibly damaging |
Het |
| Mab21l3 |
A |
T |
3: 101,730,624 (GRCm39) |
V205E |
probably damaging |
Het |
| Mad2l1 |
T |
C |
6: 66,512,951 (GRCm39) |
I28T |
probably damaging |
Het |
| Minar2 |
T |
A |
18: 59,205,347 (GRCm39) |
M45K |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,908,145 (GRCm39) |
I2F |
probably benign |
Het |
| Msr1 |
A |
T |
8: 40,068,788 (GRCm39) |
I302K |
probably benign |
Het |
| Msrb3 |
C |
T |
10: 120,685,906 (GRCm39) |
V80I |
possibly damaging |
Het |
| Ncf4 |
A |
G |
15: 78,145,219 (GRCm39) |
D269G |
probably damaging |
Het |
| Nsl1 |
T |
A |
1: 190,803,398 (GRCm39) |
H156Q |
probably benign |
Het |
| Nutm1 |
T |
C |
2: 112,078,669 (GRCm39) |
D1082G |
probably benign |
Het |
| Or6c216 |
T |
A |
10: 129,678,416 (GRCm39) |
D165V |
probably damaging |
Het |
| Or7g20 |
T |
A |
9: 18,946,650 (GRCm39) |
V77D |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,807,296 (GRCm39) |
I212V |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,128,488 (GRCm39) |
I184V |
probably benign |
Het |
| Pfkfb3 |
A |
T |
2: 11,493,589 (GRCm39) |
F129Y |
probably damaging |
Het |
| Ppp3cb |
T |
C |
14: 20,551,622 (GRCm39) |
D493G |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,942,707 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pzp |
C |
T |
6: 128,471,662 (GRCm39) |
|
probably benign |
Het |
| Semp2l2b |
A |
T |
10: 21,942,826 (GRCm39) |
W385R |
probably damaging |
Het |
| Sgf29 |
T |
A |
7: 126,271,025 (GRCm39) |
V180E |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,266 (GRCm39) |
|
probably benign |
Het |
| Slc39a2 |
A |
T |
14: 52,132,620 (GRCm39) |
T188S |
probably benign |
Het |
| Slc6a13 |
G |
T |
6: 121,310,323 (GRCm39) |
M327I |
probably benign |
Het |
| Slitrk6 |
T |
A |
14: 110,987,226 (GRCm39) |
H827L |
probably benign |
Het |
| Thumpd2 |
T |
G |
17: 81,361,884 (GRCm39) |
K114T |
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,210,987 (GRCm39) |
C234S |
possibly damaging |
Het |
| Tns2 |
A |
G |
15: 102,019,375 (GRCm39) |
D446G |
probably damaging |
Het |
| Tpm4 |
A |
G |
8: 72,898,547 (GRCm39) |
E137G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,625,901 (GRCm39) |
R13307C |
probably damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,725 (GRCm39) |
S122P |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,008,991 (GRCm39) |
D1080G |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,981,373 (GRCm39) |
L886* |
probably null |
Het |
| Unc80 |
T |
C |
1: 66,594,112 (GRCm39) |
S1164P |
possibly damaging |
Het |
| Uspl1 |
T |
C |
5: 149,141,114 (GRCm39) |
V371A |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,494,804 (GRCm39) |
V35A |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp787 |
A |
T |
7: 6,135,297 (GRCm39) |
I318N |
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 |
|
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 |
Incidental Mutation