Incidental Mutation 'IGL00333:Haus8'
| ID |
5027 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Haus8
|
| Ensembl Gene |
ENSMUSG00000035439 |
| Gene Name |
4HAUS augmin-like complex, subunit 8 |
| Synonyms |
2410004L22Rik, Hice1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
IGL00333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71703241-71725234 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 71708289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035960]
[ENSMUST00000035960]
[ENSMUST00000110071]
[ENSMUST00000110071]
[ENSMUST00000123495]
|
| AlphaFold |
Q99L00 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035960
|
| SMART Domains |
Protein: ENSMUSP00000040802
Gene: ENSMUSG00000035439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
coiled coil region
|
164 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000035960
|
| SMART Domains |
Protein: ENSMUSP00000040802
Gene: ENSMUSG00000035439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
coiled coil region
|
164 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110071
|
| SMART Domains |
Protein: ENSMUSP00000105698
Gene: ENSMUSG00000035439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110071
|
| SMART Domains |
Protein: ENSMUSP00000105698
Gene: ENSMUSG00000035439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123495
|
| SMART Domains |
Protein: ENSMUSP00000123517
Gene: ENSMUSG00000035439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157039
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
T |
C |
9: 74,933,072 (GRCm39) |
I1006T |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bag6 |
T |
G |
17: 35,363,627 (GRCm39) |
D770E |
probably damaging |
Het |
| Ccdc8 |
T |
A |
7: 16,729,967 (GRCm39) |
D485E |
unknown |
Het |
| Cyp2c54 |
A |
C |
19: 40,060,522 (GRCm39) |
V153G |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,816,880 (GRCm39) |
T499S |
possibly damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,549,537 (GRCm39) |
*107R |
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Klk1b27 |
T |
A |
7: 43,705,567 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
C |
A |
17: 71,550,967 (GRCm39) |
T709K |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,849,017 (GRCm39) |
L945P |
probably benign |
Het |
| Lrrn4 |
C |
T |
2: 132,712,737 (GRCm39) |
C362Y |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,320 (GRCm39) |
S184P |
probably damaging |
Het |
| Nr2f1 |
A |
T |
13: 78,337,952 (GRCm39) |
V231E |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,474 (GRCm39) |
Y216* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,452,522 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
C |
12: 9,629,432 (GRCm39) |
I102L |
probably benign |
Het |
| Pcbd1 |
A |
T |
10: 60,927,949 (GRCm39) |
Q37L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,571,691 (GRCm39) |
Q359* |
probably null |
Het |
| Rpgrip1 |
A |
T |
14: 52,387,895 (GRCm39) |
|
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,291,491 (GRCm39) |
M105T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,447,387 (GRCm39) |
T2184A |
probably benign |
Het |
| Synpo2 |
C |
T |
3: 122,906,859 (GRCm39) |
G819D |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,654 (GRCm39) |
V180A |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,433,210 (GRCm39) |
D324G |
probably damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,606,970 (GRCm39) |
L328* |
probably null |
Het |
| Tmem253 |
T |
C |
14: 52,255,418 (GRCm39) |
L76P |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,623 (GRCm39) |
V46I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,779,425 (GRCm39) |
F1152I |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,257,101 (GRCm39) |
V139A |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,351,597 (GRCm39) |
D212G |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,574 (GRCm39) |
L1622Q |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,364 (GRCm39) |
T162A |
probably damaging |
Het |
|
| Other mutations in Haus8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01298:Haus8
|
APN |
8 |
71,705,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Haus8
|
APN |
8 |
71,705,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02034:Haus8
|
APN |
8 |
71,708,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Haus8
|
APN |
8 |
71,708,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Haus8
|
APN |
8 |
71,710,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02871:Haus8
|
APN |
8 |
71,709,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02939:Haus8
|
APN |
8 |
71,708,361 (GRCm39) |
splice site |
probably benign |
|
|
R0486:Haus8
|
UTSW |
8 |
71,709,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0486:Haus8
|
UTSW |
8 |
71,709,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Haus8
|
UTSW |
8 |
71,709,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Haus8
|
UTSW |
8 |
71,708,767 (GRCm39) |
intron |
probably benign |
|
|
R2327:Haus8
|
UTSW |
8 |
71,708,289 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4575:Haus8
|
UTSW |
8 |
71,715,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5294:Haus8
|
UTSW |
8 |
71,708,354 (GRCm39) |
missense |
unknown |
|
|
R6424:Haus8
|
UTSW |
8 |
71,704,080 (GRCm39) |
nonsense |
probably null |
|
|
R7231:Haus8
|
UTSW |
8 |
71,705,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8071:Haus8
|
UTSW |
8 |
71,708,695 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8815:Haus8
|
UTSW |
8 |
71,705,910 (GRCm39) |
splice site |
probably benign |
|
|
R9752:Haus8
|
UTSW |
8 |
71,715,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation