Incidental Mutation 'IGL00480:Haus3'
| ID |
6450 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Haus3
|
| Ensembl Gene |
ENSMUSG00000079555 |
| Gene Name |
HAUS augmin-like complex, subunit 3 |
| Synonyms |
D5H4S43, D4S43h, D5H4S43E |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34311240-34326768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34325272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 129
(E129G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042954]
[ENSMUST00000060049]
[ENSMUST00000202042]
[ENSMUST00000202409]
[ENSMUST00000202638]
[ENSMUST00000202541]
|
| AlphaFold |
Q8QZX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042954
|
| SMART Domains |
Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
110 |
121 |
N/A |
INTRINSIC |
|
POLAc
|
605 |
814 |
7.88e-67 |
SMART |
|
low complexity region
|
829 |
843 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060049
AA Change: E129G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000049973
Gene: ENSMUSG00000079555
AA Change: E129G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS-augmin3
|
29 |
282 |
4.8e-85 |
PFAM |
|
coiled coil region
|
294 |
336 |
N/A |
INTRINSIC |
|
coiled coil region
|
459 |
495 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202042
|
| SMART Domains |
Protein: ENSMUSP00000144049
Gene: ENSMUSG00000079555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS-augmin3
|
29 |
96 |
7.2e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202409
|
| SMART Domains |
Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
110 |
121 |
N/A |
INTRINSIC |
|
coiled coil region
|
448 |
471 |
N/A |
INTRINSIC |
|
POLAc
|
587 |
796 |
2.6e-69 |
SMART |
|
low complexity region
|
811 |
825 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202638
|
| SMART Domains |
Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
110 |
121 |
N/A |
INTRINSIC |
|
coiled coil region
|
448 |
471 |
N/A |
INTRINSIC |
|
POLAc
|
605 |
770 |
3e-37 |
SMART |
|
low complexity region
|
785 |
799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202541
|
| 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 component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit pre- or peri-implantation lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
| Cdc6 |
T |
C |
11: 98,799,597 (GRCm39) |
V68A |
probably benign |
Het |
| Ceacam23 |
T |
A |
7: 17,644,622 (GRCm39) |
S580T |
probably benign |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Gtf3c1 |
C |
T |
7: 125,243,430 (GRCm39) |
V1821I |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,235,355 (GRCm39) |
|
probably benign |
Het |
| Pabpc1l |
G |
A |
2: 163,884,237 (GRCm39) |
V325M |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,477,928 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,158,195 (GRCm39) |
D1201V |
possibly damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,149,452 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,346,604 (GRCm39) |
P1016Q |
possibly damaging |
Het |
| Selenot |
T |
A |
3: 58,493,503 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
C |
T |
1: 189,632,043 (GRCm39) |
R107Q |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,593,073 (GRCm39) |
K136E |
probably benign |
Het |
| Trio |
T |
C |
15: 27,912,829 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,225,303 (GRCm39) |
I645T |
probably damaging |
Het |
| Uts2r |
T |
A |
11: 121,051,172 (GRCm39) |
M12K |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,115 (GRCm39) |
N192S |
probably benign |
Het |
|
| Other mutations in Haus3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Haus3
|
APN |
5 |
34,323,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01311:Haus3
|
APN |
5 |
34,324,988 (GRCm39) |
nonsense |
probably null |
|
|
IGL01906:Haus3
|
APN |
5 |
34,325,667 (GRCm39) |
intron |
probably benign |
|
|
IGL01964:Haus3
|
APN |
5 |
34,323,405 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02383:Haus3
|
APN |
5 |
34,323,580 (GRCm39) |
nonsense |
probably null |
|
|
IGL02584:Haus3
|
APN |
5 |
34,323,602 (GRCm39) |
nonsense |
probably null |
|
|
IGL02800:Haus3
|
APN |
5 |
34,323,668 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03010:Haus3
|
APN |
5 |
34,323,631 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03371:Haus3
|
APN |
5 |
34,323,687 (GRCm39) |
nonsense |
probably null |
|
|
R0102:Haus3
|
UTSW |
5 |
34,323,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0102:Haus3
|
UTSW |
5 |
34,323,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0238:Haus3
|
UTSW |
5 |
34,323,600 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0238:Haus3
|
UTSW |
5 |
34,323,600 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0701:Haus3
|
UTSW |
5 |
34,323,359 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1527:Haus3
|
UTSW |
5 |
34,311,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1714:Haus3
|
UTSW |
5 |
34,321,041 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1800:Haus3
|
UTSW |
5 |
34,320,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4874:Haus3
|
UTSW |
5 |
34,324,972 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4895:Haus3
|
UTSW |
5 |
34,325,414 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5268:Haus3
|
UTSW |
5 |
34,323,449 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5613:Haus3
|
UTSW |
5 |
34,325,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6299:Haus3
|
UTSW |
5 |
34,325,140 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6701:Haus3
|
UTSW |
5 |
34,325,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7414:Haus3
|
UTSW |
5 |
34,323,477 (GRCm39) |
missense |
probably benign |
|
|
R7920:Haus3
|
UTSW |
5 |
34,325,046 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8273:Haus3
|
UTSW |
5 |
34,311,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9156:Haus3
|
UTSW |
5 |
34,324,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9180:Haus3
|
UTSW |
5 |
34,324,835 (GRCm39) |
nonsense |
probably null |
|
|
R9267:Haus3
|
UTSW |
5 |
34,311,452 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9372:Haus3
|
UTSW |
5 |
34,321,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9511:Haus3
|
UTSW |
5 |
34,325,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Haus3
|
UTSW |
5 |
34,325,300 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0019:Haus3
|
UTSW |
5 |
34,320,900 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Haus3
|
UTSW |
5 |
34,323,566 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2012-04-20 |
Incidental Mutation