Incidental Mutation 'R4371:Hepacam2'
ID |
325993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hepacam2
|
Ensembl Gene |
ENSMUSG00000044156 |
Gene Name |
HEPACAM family member 2 |
Synonyms |
|
MMRRC Submission |
041117-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R4371 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
3457202-3498319 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3486988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 123
(V123E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049985]
[ENSMUST00000200854]
[ENSMUST00000201607]
|
AlphaFold |
Q4VAH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049985
AA Change: V123E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058882 Gene: ENSMUSG00000044156 AA Change: V123E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184051
AA Change: V136E
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200854
AA Change: V47E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144362 Gene: ENSMUSG00000044156 AA Change: V47E
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: V47E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143834 Gene: ENSMUSG00000044156 AA Change: V47E
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 |
|
Meta Mutation Damage Score |
0.5531 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Alox12b |
G |
A |
11: 69,060,442 (GRCm39) |
R666H |
possibly damaging |
Het |
Atp9a |
T |
C |
2: 168,491,535 (GRCm39) |
T677A |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
C9 |
A |
G |
15: 6,520,965 (GRCm39) |
D470G |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,215,701 (GRCm39) |
F337L |
probably damaging |
Het |
Cep152 |
G |
A |
2: 125,454,967 (GRCm39) |
R278W |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
Chfr |
G |
A |
5: 110,284,034 (GRCm39) |
R36H |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,763,818 (GRCm39) |
|
probably null |
Het |
Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Gm6177 |
A |
T |
1: 160,720,741 (GRCm39) |
|
noncoding transcript |
Het |
Iqsec1 |
A |
G |
6: 90,671,588 (GRCm39) |
S194P |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,210,251 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
A |
T |
1: 60,329,105 (GRCm39) |
K2174N |
possibly damaging |
Het |
Ncapg |
G |
A |
5: 45,835,797 (GRCm39) |
M409I |
probably benign |
Het |
Ocstamp |
A |
G |
2: 165,239,233 (GRCm39) |
S318P |
possibly damaging |
Het |
Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
Pom121l2 |
T |
C |
13: 22,166,409 (GRCm39) |
S227P |
probably benign |
Het |
Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
Sptbn5 |
A |
G |
2: 119,896,475 (GRCm39) |
C729R |
probably damaging |
Het |
Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
Tfap4 |
A |
G |
16: 4,369,863 (GRCm39) |
I4T |
probably damaging |
Het |
Thrb |
C |
A |
14: 18,030,275 (GRCm38) |
Q340K |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,888,588 (GRCm39) |
Y1735C |
probably damaging |
Het |
Ubr1 |
A |
T |
2: 120,725,547 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATGCAGGCTTTGAGAATTAC -3'
(R):5'- CAGTGCACTATGGCTTCCAC -3'
Sequencing Primer
(F):5'- CTTAATTCCTTCACAGTGGCAAGAGC -3'
(R):5'- TCTGACATCCAGATCATATGGCTG -3'
|
Posted On |
2015-07-06 |