Incidental Mutation 'IGL02445:Hepacam2'
ID |
293554 |
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 # |
IGL02445
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
3457202-3498319 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3483481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 100
(G100D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143834
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049985]
[ENSMUST00000200854]
[ENSMUST00000201607]
|
AlphaFold |
Q4VAH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049985
AA Change: G176D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058882 Gene: ENSMUSG00000044156 AA Change: G176D
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 damaging
Transcript: ENSMUST00000200854
AA Change: G100D
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144362 Gene: ENSMUSG00000044156 AA Change: G100D
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 damaging
Transcript: ENSMUST00000201607
AA Change: G100D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143834 Gene: ENSMUSG00000044156 AA Change: G100D
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
T |
5: 114,383,198 (GRCm39) |
T2127M |
probably damaging |
Het |
Acp2 |
A |
G |
2: 91,036,606 (GRCm39) |
D175G |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,286,798 (GRCm39) |
L801P |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,398,313 (GRCm39) |
V1470G |
possibly damaging |
Het |
Ankar |
T |
G |
1: 72,705,524 (GRCm39) |
K829Q |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,274,318 (GRCm39) |
Y531C |
probably benign |
Het |
Atm |
T |
C |
9: 53,365,630 (GRCm39) |
I2590V |
probably benign |
Het |
Brme1 |
T |
A |
8: 84,886,137 (GRCm39) |
M31K |
probably benign |
Het |
Cblb |
T |
C |
16: 51,986,668 (GRCm39) |
L485P |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,283,911 (GRCm39) |
|
probably benign |
Het |
Coprs |
T |
C |
8: 13,935,797 (GRCm39) |
K74R |
possibly damaging |
Het |
Cul3 |
A |
T |
1: 80,281,886 (GRCm39) |
L31M |
possibly damaging |
Het |
Cyp3a59 |
C |
A |
5: 146,033,463 (GRCm39) |
Q200K |
probably benign |
Het |
Ddx19b |
C |
A |
8: 111,735,456 (GRCm39) |
V402L |
probably damaging |
Het |
Disc1 |
T |
A |
8: 125,875,142 (GRCm39) |
|
probably benign |
Het |
Dsg4 |
C |
T |
18: 20,579,307 (GRCm39) |
|
probably benign |
Het |
Dspp |
A |
C |
5: 104,324,963 (GRCm39) |
Y442S |
probably damaging |
Het |
Dtl |
C |
T |
1: 191,290,172 (GRCm39) |
|
probably null |
Het |
Ezh1 |
A |
C |
11: 101,101,513 (GRCm39) |
V175G |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,340,764 (GRCm39) |
H1704Q |
possibly damaging |
Het |
Itprid2 |
G |
A |
2: 79,487,842 (GRCm39) |
E642K |
probably damaging |
Het |
Kif26a |
T |
C |
12: 112,140,177 (GRCm39) |
S469P |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,242 (GRCm39) |
M270T |
probably benign |
Het |
Nap1l3 |
A |
T |
X: 121,305,752 (GRCm39) |
V322D |
probably damaging |
Het |
Ndufv2 |
A |
G |
17: 66,387,889 (GRCm39) |
|
probably benign |
Het |
Or14j5 |
A |
T |
17: 38,162,008 (GRCm39) |
H175L |
probably damaging |
Het |
Or4p18 |
G |
A |
2: 88,232,456 (GRCm39) |
T274I |
possibly damaging |
Het |
Or8b55 |
T |
C |
9: 38,726,901 (GRCm39) |
I34T |
possibly damaging |
Het |
Otol1 |
A |
T |
3: 69,935,367 (GRCm39) |
D453V |
probably damaging |
Het |
Papolb |
G |
A |
5: 142,514,480 (GRCm39) |
H388Y |
probably benign |
Het |
Ppp1r10 |
A |
G |
17: 36,237,094 (GRCm39) |
E128G |
probably damaging |
Het |
Prss12 |
T |
A |
3: 123,280,669 (GRCm39) |
D451E |
probably damaging |
Het |
Psmc1 |
T |
C |
12: 100,081,087 (GRCm39) |
|
probably benign |
Het |
Pygo1 |
T |
A |
9: 72,833,222 (GRCm39) |
I10N |
probably benign |
Het |
Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
Ret |
G |
A |
6: 118,158,860 (GRCm39) |
T184I |
probably damaging |
Het |
Rhd |
A |
T |
4: 134,611,481 (GRCm39) |
M214L |
possibly damaging |
Het |
Ripor3 |
C |
A |
2: 167,834,682 (GRCm39) |
|
probably benign |
Het |
Sec16a |
A |
G |
2: 26,312,052 (GRCm39) |
L2036P |
probably benign |
Het |
Slc26a3 |
C |
A |
12: 31,507,051 (GRCm39) |
D335E |
possibly damaging |
Het |
Taf6 |
A |
G |
5: 138,182,756 (GRCm39) |
|
probably benign |
Het |
Tnk2 |
T |
C |
16: 32,494,408 (GRCm39) |
V442A |
probably benign |
Het |
Virma |
A |
G |
4: 11,527,029 (GRCm39) |
M1143V |
probably damaging |
Het |
Vmn2r77 |
A |
T |
7: 86,452,848 (GRCm39) |
R522* |
probably null |
Het |
Vmn2r-ps129 |
A |
G |
17: 23,227,393 (GRCm39) |
|
noncoding transcript |
Het |
Zfp473 |
A |
G |
7: 44,383,107 (GRCm39) |
C408R |
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 |
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 |