Incidental Mutation 'R1350:Hepacam2'
| ID |
159525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hepacam2
|
| Ensembl Gene |
ENSMUSG00000044156 |
| Gene Name |
HEPACAM family member 2 |
| Synonyms |
|
| MMRRC Submission |
039415-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R1350 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
3457202-3498319 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 3467530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 384
(Q384*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049985]
|
| AlphaFold |
Q4VAH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049985
AA Change: Q384*
|
| SMART Domains |
Protein: ENSMUSP00000058882
Gene: ENSMUSG00000044156
AA Change: Q384*
| 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 |
noncoding transcript
Transcript: ENSMUST00000201276
|
| Meta Mutation Damage Score |
0.9667 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
95% (57/60) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
A |
G |
4: 126,400,925 (GRCm39) |
V640A |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,778,853 (GRCm39) |
Q860* |
probably null |
Het |
| Atp10d |
A |
G |
5: 72,418,469 (GRCm39) |
|
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,205,950 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
A |
1: 44,165,863 (GRCm39) |
N104K |
possibly damaging |
Het |
| Capn15 |
A |
G |
17: 26,183,666 (GRCm39) |
S338P |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccn6 |
C |
T |
10: 39,034,302 (GRCm39) |
C100Y |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,729,848 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,682,081 (GRCm39) |
N821D |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,771,081 (GRCm39) |
I1105F |
probably damaging |
Het |
| Dnaja2 |
A |
T |
8: 86,266,717 (GRCm39) |
F337I |
probably damaging |
Het |
| Dntt |
C |
T |
19: 41,025,578 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,791,831 (GRCm39) |
E1381K |
possibly damaging |
Het |
| Fibp |
T |
C |
19: 5,511,419 (GRCm39) |
Y96H |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,942,226 (GRCm39) |
V85A |
probably damaging |
Het |
| Gsdme |
A |
T |
6: 50,223,108 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
A |
T |
6: 136,720,912 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,809,217 (GRCm39) |
V1748A |
probably benign |
Het |
| Itga10 |
T |
A |
3: 96,564,793 (GRCm39) |
M961K |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,751,967 (GRCm39) |
T191I |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,614,545 (GRCm39) |
P336L |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,352,484 (GRCm39) |
|
probably null |
Het |
| Lipc |
T |
C |
9: 70,705,649 (GRCm39) |
H478R |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,646 (GRCm39) |
C356* |
probably null |
Het |
| Nf1 |
T |
A |
11: 79,303,513 (GRCm39) |
C397S |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,700,396 (GRCm39) |
F439S |
probably damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,701 (GRCm39) |
V275E |
probably benign |
Het |
| Or13a18 |
T |
C |
7: 140,190,622 (GRCm39) |
V181A |
probably damaging |
Het |
| Or3a1b |
T |
C |
11: 74,013,039 (GRCm39) |
L308P |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,690 (GRCm39) |
L28Q |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,937 (GRCm39) |
W2R |
probably benign |
Het |
| Or7g29 |
T |
G |
9: 19,286,710 (GRCm39) |
S156R |
possibly damaging |
Het |
| Or8b37 |
G |
A |
9: 37,959,111 (GRCm39) |
V198I |
probably benign |
Het |
| Pcif1 |
T |
C |
2: 164,728,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,982,585 (GRCm39) |
R107L |
probably damaging |
Het |
| Skint7 |
G |
T |
4: 111,837,521 (GRCm39) |
A100S |
possibly damaging |
Het |
| Ssu2 |
A |
T |
6: 112,351,807 (GRCm39) |
L306* |
probably null |
Het |
| Tasp1 |
T |
C |
2: 139,899,341 (GRCm39) |
E4G |
probably damaging |
Het |
| Tfb1m |
A |
T |
17: 3,595,955 (GRCm39) |
D99E |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,198 (GRCm39) |
|
probably null |
Het |
| Uox |
A |
G |
3: 146,330,330 (GRCm39) |
D162G |
probably damaging |
Het |
| Usp18 |
A |
G |
6: 121,239,651 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,886 (GRCm39) |
N177S |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,897,558 (GRCm39) |
M621K |
probably damaging |
Het |
| Wdfy3 |
C |
A |
5: 102,046,418 (GRCm39) |
D1797Y |
probably damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,060,856 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
G |
A |
17: 27,193,380 (GRCm39) |
V262I |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTCCAGAAGCTACGAAAGTCC -3'
(R):5'- GCTTGCACAAAGGGGAAAATCCCTG -3'
Sequencing Primer
(F):5'- GAAGCTACGAAAGTCCTCCTTTG -3'
(R):5'- TGTCCCCACTAGCAAGTATAACTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation