Incidental Mutation 'IGL02188:Haus8'
| ID |
283723 |
| 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 # |
IGL02188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71703241-71725234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 71710059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 51
(A51E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035960]
[ENSMUST00000110071]
[ENSMUST00000123495]
|
| AlphaFold |
Q99L00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035960
AA Change: A51E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040802
Gene: ENSMUSG00000035439
AA Change: A51E
| 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: A51E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105698
Gene: ENSMUSG00000035439
AA Change: A51E
| 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 damaging
Transcript: ENSMUST00000123495
AA Change: A51E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123517
Gene: ENSMUSG00000035439
AA Change: A51E
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,093,421 (GRCm39) |
N56S |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,924,021 (GRCm39) |
C81R |
probably benign |
Het |
| Ccl25 |
A |
C |
8: 4,398,552 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,578,500 (GRCm39) |
T176A |
probably benign |
Het |
| Cnrip1 |
A |
G |
11: 17,028,398 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,853,034 (GRCm39) |
C62* |
probably null |
Het |
| Eepd1 |
T |
C |
9: 25,493,188 (GRCm39) |
F311L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,154 (GRCm39) |
L676P |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,090,035 (GRCm39) |
|
probably benign |
Het |
| Galnt12 |
C |
T |
4: 47,122,521 (GRCm39) |
R267W |
probably damaging |
Het |
| Gm5150 |
T |
A |
3: 16,017,826 (GRCm39) |
K148N |
possibly damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,035 (GRCm39) |
Y303H |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,256,144 (GRCm39) |
R936H |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,894,213 (GRCm39) |
N1282S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Matn4 |
C |
T |
2: 164,242,786 (GRCm39) |
R104H |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,209,100 (GRCm39) |
I667M |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,245,876 (GRCm39) |
I238T |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,740,234 (GRCm39) |
A598T |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,891,258 (GRCm39) |
I1604L |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 40,993,827 (GRCm39) |
G547R |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,396 (GRCm39) |
M135L |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,643 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,300,718 (GRCm39) |
I41F |
unknown |
Het |
| Pla2g2f |
T |
C |
4: 138,479,518 (GRCm39) |
|
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,968 (GRCm39) |
S39T |
probably benign |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,326,020 (GRCm39) |
D1219G |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,156 (GRCm39) |
M1I |
probably null |
Het |
| Slc44a1 |
T |
C |
4: 53,541,361 (GRCm39) |
V273A |
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,791,994 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
C |
4: 58,068,382 (GRCm39) |
T3135A |
possibly damaging |
Het |
| Tnnc1 |
T |
C |
14: 30,932,617 (GRCm39) |
L100P |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,789,955 (GRCm39) |
R870* |
probably null |
Het |
| Usp28 |
T |
C |
9: 48,935,309 (GRCm39) |
S87P |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,964 (GRCm39) |
V497E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation