Incidental Mutation 'IGL02871:Haus8'
ID |
362570 |
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: 0.903)
|
Stock # |
IGL02871
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
71703241-71725234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71709138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 90
(M90K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035960]
[ENSMUST00000110071]
[ENSMUST00000123495]
|
AlphaFold |
Q99L00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035960
AA Change: M91K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000040802 Gene: ENSMUSG00000035439 AA Change: M91K
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 benign
Transcript: ENSMUST00000110071
AA Change: M90K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000105698 Gene: ENSMUSG00000035439 AA Change: M90K
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
AA Change: M90K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000123517 Gene: ENSMUSG00000035439 AA Change: M90K
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl15 |
C |
A |
13: 114,291,374 (GRCm39) |
H179Q |
probably benign |
Het |
Bin3 |
T |
A |
14: 70,366,354 (GRCm39) |
C72* |
probably null |
Het |
Brca2 |
C |
T |
5: 150,466,017 (GRCm39) |
T1927I |
probably benign |
Het |
Cap2 |
A |
G |
13: 46,678,968 (GRCm39) |
D26G |
probably benign |
Het |
Casz1 |
T |
G |
4: 149,028,776 (GRCm39) |
S1074A |
possibly damaging |
Het |
Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
Exosc9 |
A |
G |
3: 36,619,430 (GRCm39) |
N408S |
probably benign |
Het |
Ezr |
G |
A |
17: 7,009,789 (GRCm39) |
Q352* |
probably null |
Het |
Fbxl4 |
T |
A |
4: 22,386,213 (GRCm39) |
D273E |
probably benign |
Het |
Gm3269 |
A |
T |
14: 16,028,154 (GRCm39) |
N193I |
probably damaging |
Het |
Igkv5-39 |
A |
T |
6: 69,877,490 (GRCm39) |
S89T |
probably benign |
Het |
Nlrp4b |
A |
C |
7: 10,449,192 (GRCm39) |
D465A |
probably benign |
Het |
Nsf |
A |
G |
11: 103,752,882 (GRCm39) |
|
probably benign |
Het |
Nt5c1b |
G |
A |
12: 10,431,325 (GRCm39) |
M409I |
probably damaging |
Het |
Or4a75 |
T |
C |
2: 89,448,504 (GRCm39) |
I11V |
probably benign |
Het |
Or4c103 |
T |
A |
2: 88,513,428 (GRCm39) |
Y216F |
probably damaging |
Het |
Or5ac17 |
T |
A |
16: 59,036,737 (GRCm39) |
K80* |
probably null |
Het |
Pga5 |
T |
C |
19: 10,649,144 (GRCm39) |
|
probably benign |
Het |
Pigk |
T |
A |
3: 152,472,153 (GRCm39) |
I355K |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,187,018 (GRCm39) |
Y404C |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,754,443 (GRCm39) |
E199G |
probably damaging |
Het |
Sec24c |
T |
C |
14: 20,742,950 (GRCm39) |
S935P |
probably benign |
Het |
Slc22a13 |
T |
C |
9: 119,025,077 (GRCm39) |
T200A |
probably benign |
Het |
Svep1 |
T |
A |
4: 58,100,871 (GRCm39) |
I1264L |
probably benign |
Het |
Tcf7l2 |
T |
A |
19: 55,907,429 (GRCm39) |
C349S |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,906,048 (GRCm39) |
H284R |
probably benign |
Het |
Vmn2r19 |
C |
T |
6: 123,313,042 (GRCm39) |
S704L |
probably damaging |
Het |
Vmn2r50 |
A |
G |
7: 9,781,714 (GRCm39) |
Y344H |
possibly 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 |
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 |
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 |
2015-12-18 |