Incidental Mutation 'IGL01945:Hepacam2'
ID |
279229 |
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 # |
IGL01945
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
3457202-3498319 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3487117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 4
(Y4F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049985]
[ENSMUST00000200854]
[ENSMUST00000201607]
|
AlphaFold |
Q4VAH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049985
AA Change: Y80F
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000058882 Gene: ENSMUSG00000044156 AA Change: Y80F
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: Y4F
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000144362 Gene: ENSMUSG00000044156 AA Change: Y4F
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: Y4F
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000143834 Gene: ENSMUSG00000044156 AA Change: Y4F
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
C |
11: 109,974,130 (GRCm39) |
|
probably benign |
Het |
Acta2 |
A |
G |
19: 34,229,254 (GRCm39) |
V45A |
probably benign |
Het |
Adam11 |
G |
A |
11: 102,663,736 (GRCm39) |
V305M |
probably damaging |
Het |
Adcy1 |
A |
G |
11: 7,111,891 (GRCm39) |
K919E |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,889,934 (GRCm39) |
T101A |
probably benign |
Het |
Apbb2 |
T |
A |
5: 66,557,594 (GRCm39) |
D289V |
probably damaging |
Het |
Appl1 |
A |
G |
14: 26,650,612 (GRCm39) |
V520A |
possibly damaging |
Het |
Atp5mc3 |
G |
A |
2: 73,741,313 (GRCm39) |
R9C |
probably benign |
Het |
Atp8a2 |
A |
G |
14: 60,263,609 (GRCm39) |
L375P |
probably damaging |
Het |
Cavin1 |
A |
T |
11: 100,861,246 (GRCm39) |
F16Y |
probably benign |
Het |
Ccdc185 |
C |
A |
1: 182,576,441 (GRCm39) |
V83L |
probably benign |
Het |
Ccdc80 |
T |
A |
16: 44,938,608 (GRCm39) |
S772T |
probably damaging |
Het |
Cntn4 |
T |
A |
6: 106,414,865 (GRCm39) |
V132E |
probably damaging |
Het |
Coa5 |
A |
T |
1: 37,468,979 (GRCm39) |
C24S |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,805,489 (GRCm39) |
V1139D |
unknown |
Het |
Ddx46 |
C |
A |
13: 55,802,885 (GRCm39) |
S469* |
probably null |
Het |
Ep300 |
A |
G |
15: 81,500,310 (GRCm39) |
|
probably benign |
Het |
Fcna |
A |
T |
2: 25,517,847 (GRCm39) |
M1K |
probably null |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gstm3 |
T |
C |
3: 107,874,973 (GRCm39) |
E93G |
probably damaging |
Het |
Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,651,320 (GRCm39) |
I1148V |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,141,613 (GRCm39) |
T9A |
possibly damaging |
Het |
Kl |
A |
T |
5: 150,912,402 (GRCm39) |
D717V |
probably damaging |
Het |
Krt75 |
G |
A |
15: 101,478,599 (GRCm39) |
T345M |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,047,953 (GRCm39) |
H260Q |
probably damaging |
Het |
Nckap1l |
G |
A |
15: 103,370,069 (GRCm39) |
G156D |
probably damaging |
Het |
Nlrp1b |
T |
G |
11: 71,072,233 (GRCm39) |
T537P |
probably damaging |
Het |
Nudt17 |
A |
G |
3: 96,614,355 (GRCm39) |
I201T |
probably damaging |
Het |
Or5k3 |
T |
C |
16: 58,969,827 (GRCm39) |
S205P |
probably benign |
Het |
Or6c8 |
A |
T |
10: 128,915,172 (GRCm39) |
I220N |
probably damaging |
Het |
Or7g27 |
A |
T |
9: 19,250,628 (GRCm39) |
S291C |
probably damaging |
Het |
Padi6 |
T |
C |
4: 140,469,235 (GRCm39) |
D35G |
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,062,711 (GRCm39) |
Y107F |
probably benign |
Het |
Plek2 |
T |
A |
12: 78,938,922 (GRCm39) |
H279L |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,535,588 (GRCm39) |
D470G |
possibly damaging |
Het |
Ranbp17 |
T |
C |
11: 33,278,520 (GRCm39) |
T116A |
possibly damaging |
Het |
Rbck1 |
G |
A |
2: 152,160,236 (GRCm39) |
P481L |
probably damaging |
Het |
Reps1 |
A |
G |
10: 17,969,584 (GRCm39) |
N229S |
probably benign |
Het |
Rngtt |
T |
C |
4: 33,339,073 (GRCm39) |
W293R |
probably damaging |
Het |
Robo1 |
A |
T |
16: 72,759,114 (GRCm39) |
I376F |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,805,249 (GRCm39) |
I872F |
probably damaging |
Het |
Sgip1 |
T |
C |
4: 102,823,439 (GRCm39) |
Y707H |
probably damaging |
Het |
Slc17a5 |
G |
T |
9: 78,495,214 (GRCm39) |
D12E |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,189,715 (GRCm39) |
|
probably null |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Strap |
A |
G |
6: 137,718,333 (GRCm39) |
I146V |
probably benign |
Het |
Tcim |
A |
T |
8: 24,928,892 (GRCm39) |
H7Q |
probably benign |
Het |
Tgfbr3 |
A |
G |
5: 107,269,224 (GRCm39) |
|
probably null |
Het |
Thada |
G |
T |
17: 84,530,194 (GRCm39) |
T1725N |
probably benign |
Het |
Trhr |
T |
C |
15: 44,060,540 (GRCm39) |
V20A |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wnt5a |
A |
G |
14: 28,240,519 (GRCm39) |
N223S |
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 |
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 |
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 |