Incidental Mutation 'IGL02034:Haus8'
| ID |
184452 |
| 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 # |
IGL02034
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71703241-71725234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71708202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 165
(N165S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035960]
[ENSMUST00000110071]
[ENSMUST00000123495]
|
| AlphaFold |
Q99L00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035960
AA Change: N165S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040802
Gene: ENSMUSG00000035439
AA Change: N165S
| 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 damaging
Transcript: ENSMUST00000110071
AA Change: N164S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105698
Gene: ENSMUSG00000035439
AA Change: N164S
| 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 |
silent
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcor |
A |
G |
X: 11,905,498 (GRCm39) |
S1556P |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,694,259 (GRCm39) |
S1745P |
possibly damaging |
Het |
| Ccdc6 |
T |
A |
10: 70,004,978 (GRCm39) |
I241N |
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,619,986 (GRCm39) |
I48T |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,837,118 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,897,347 (GRCm39) |
M264V |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,221,043 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,843,941 (GRCm39) |
|
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,548,101 (GRCm39) |
R567Q |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,235,486 (GRCm39) |
|
probably null |
Het |
| Ermp1 |
G |
A |
19: 29,623,359 (GRCm39) |
|
probably benign |
Het |
| Erv3 |
C |
T |
2: 131,697,934 (GRCm39) |
V142I |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,495,730 (GRCm39) |
N58S |
probably damaging |
Het |
| Gcm2 |
G |
A |
13: 41,259,269 (GRCm39) |
R67C |
probably damaging |
Het |
| Gm17019 |
A |
G |
5: 15,080,266 (GRCm39) |
I182T |
possibly damaging |
Het |
| Gpr45 |
T |
C |
1: 43,072,478 (GRCm39) |
*374Q |
probably null |
Het |
| Hoxd4 |
T |
A |
2: 74,558,750 (GRCm39) |
L191Q |
probably damaging |
Het |
| I830077J02Rik |
A |
G |
3: 105,834,565 (GRCm39) |
|
probably benign |
Het |
| Lpl |
T |
C |
8: 69,333,424 (GRCm39) |
L7P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,158,382 (GRCm39) |
K1612* |
probably null |
Het |
| Myh14 |
G |
T |
7: 44,265,717 (GRCm39) |
A1546D |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,875,577 (GRCm39) |
S1698P |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,570 (GRCm39) |
Q263L |
probably benign |
Het |
| Or4c112 |
C |
T |
2: 88,854,015 (GRCm39) |
V111M |
probably benign |
Het |
| Or52e7 |
C |
A |
7: 104,684,597 (GRCm39) |
T64N |
probably benign |
Het |
| Or5p51 |
G |
A |
7: 107,444,385 (GRCm39) |
T185I |
probably benign |
Het |
| Otog |
A |
T |
7: 45,945,417 (GRCm39) |
K40* |
probably null |
Het |
| Rgma |
C |
A |
7: 73,067,181 (GRCm39) |
H145Q |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,977,776 (GRCm39) |
|
probably null |
Het |
| Ssxb2 |
T |
A |
X: 8,324,743 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,790,002 (GRCm39) |
T118I |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,498,808 (GRCm39) |
V542A |
probably benign |
Het |
| Zfp977 |
G |
A |
7: 42,230,136 (GRCm39) |
P130S |
probably damaging |
Het |
|
| Other mutations in Haus8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Haus8
|
APN |
8 |
71,708,289 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation