Incidental Mutation 'IGL02427:Haus5'
| ID |
292958 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Haus5
|
| Ensembl Gene |
ENSMUSG00000078762 |
| Gene Name |
HAUS augmin-like complex, subunit 5 |
| Synonyms |
2310022K01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
IGL02427
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30353136-30364419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30361196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 115
(T115A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019697]
[ENSMUST00000132862]
|
| AlphaFold |
Q9D786 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019697
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019697
Gene: ENSMUSG00000078762
AA Change: T115A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS5
|
7 |
617 |
9.8e-181 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132862
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121739
Gene: ENSMUSG00000078762
AA Change: T115A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS5
|
5 |
515 |
4.4e-182 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146232
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS5 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
C |
T |
5: 99,381,829 (GRCm39) |
G311D |
probably damaging |
Het |
| Ablim1 |
A |
T |
19: 57,068,312 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
T |
C |
X: 159,274,400 (GRCm39) |
F863S |
probably damaging |
Het |
| B3galt2 |
A |
T |
1: 143,522,254 (GRCm39) |
H130L |
probably benign |
Het |
| Bbs2 |
G |
A |
8: 94,807,746 (GRCm39) |
P378S |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,390,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
C |
T |
12: 100,887,851 (GRCm39) |
C1543Y |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,846,517 (GRCm39) |
V647E |
probably damaging |
Het |
| Cfap77 |
A |
T |
2: 28,845,592 (GRCm39) |
C258* |
probably null |
Het |
| Cpsf4l |
T |
G |
11: 113,600,324 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,708,380 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
G |
A |
17: 46,813,558 (GRCm39) |
T2305I |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,121,462 (GRCm39) |
Q29* |
probably null |
Het |
| Cwf19l2 |
G |
T |
9: 3,456,817 (GRCm39) |
V717L |
probably benign |
Het |
| Cyp1a1 |
A |
G |
9: 57,607,858 (GRCm39) |
Y162C |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,216,275 (GRCm39) |
D589G |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,689,815 (GRCm39) |
|
probably null |
Het |
| Dtna |
T |
C |
18: 23,784,595 (GRCm39) |
Y705H |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,526,313 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
A |
3: 53,443,184 (GRCm39) |
N2527Y |
probably damaging |
Het |
| Gm7694 |
T |
C |
1: 170,130,113 (GRCm39) |
D95G |
probably benign |
Het |
| Kdm3a |
A |
T |
6: 71,569,184 (GRCm39) |
|
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,993,680 (GRCm39) |
D197G |
possibly damaging |
Het |
| Lap3 |
T |
C |
5: 45,668,475 (GRCm39) |
V429A |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,981,042 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
A |
15: 77,660,004 (GRCm39) |
Q88L |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,083,900 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
C |
T |
3: 156,267,827 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,025 (GRCm39) |
D570V |
probably damaging |
Het |
| Nlrp9b |
T |
G |
7: 19,776,426 (GRCm39) |
C337W |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,957,988 (GRCm39) |
C3780S |
probably damaging |
Het |
| Or1e19 |
A |
T |
11: 73,316,487 (GRCm39) |
F107L |
probably damaging |
Het |
| Piwil2 |
T |
A |
14: 70,635,583 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,516,580 (GRCm39) |
S213G |
probably null |
Het |
| Pxdn |
T |
A |
12: 30,034,531 (GRCm39) |
C39S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,608,288 (GRCm39) |
N241S |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,645,017 (GRCm39) |
|
probably null |
Het |
| Rhox2h |
C |
T |
X: 36,854,526 (GRCm39) |
G72D |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,190,188 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,673,690 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,688 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,894,713 (GRCm39) |
C598S |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,952,986 (GRCm39) |
D685G |
probably damaging |
Het |
| Sulf2 |
C |
T |
2: 165,931,218 (GRCm39) |
R263H |
probably damaging |
Het |
| Tbx22 |
C |
A |
X: 106,724,777 (GRCm39) |
P17T |
probably damaging |
Het |
| Tspoap1 |
A |
T |
11: 87,653,341 (GRCm39) |
T136S |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,427,884 (GRCm39) |
E240G |
possibly damaging |
Het |
| Umodl1 |
C |
T |
17: 31,187,415 (GRCm39) |
|
probably benign |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,780 (GRCm39) |
T107A |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,802,713 (GRCm39) |
D241G |
possibly damaging |
Het |
| Zfp445 |
T |
C |
9: 122,681,295 (GRCm39) |
H882R |
probably benign |
Het |
| Zscan30 |
T |
C |
18: 24,104,533 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Haus5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Haus5
|
APN |
7 |
30,362,719 (GRCm39) |
splice site |
probably benign |
|
|
IGL02422:Haus5
|
APN |
7 |
30,359,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02626:Haus5
|
APN |
7 |
30,356,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Haus5
|
APN |
7 |
30,362,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Haus5
|
UTSW |
7 |
30,353,605 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0046:Haus5
|
UTSW |
7 |
30,353,605 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0511:Haus5
|
UTSW |
7 |
30,358,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Haus5
|
UTSW |
7 |
30,358,508 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1447:Haus5
|
UTSW |
7 |
30,361,216 (GRCm39) |
splice site |
probably null |
|
|
R1711:Haus5
|
UTSW |
7 |
30,357,328 (GRCm39) |
nonsense |
probably null |
|
|
R1852:Haus5
|
UTSW |
7 |
30,357,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1901:Haus5
|
UTSW |
7 |
30,356,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Haus5
|
UTSW |
7 |
30,358,825 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4832:Haus5
|
UTSW |
7 |
30,356,452 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4865:Haus5
|
UTSW |
7 |
30,357,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Haus5
|
UTSW |
7 |
30,353,651 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5168:Haus5
|
UTSW |
7 |
30,357,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5492:Haus5
|
UTSW |
7 |
30,358,380 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6293:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6296:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6297:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6332:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6334:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6964:Haus5
|
UTSW |
7 |
30,357,040 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7095:Haus5
|
UTSW |
7 |
30,358,997 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7348:Haus5
|
UTSW |
7 |
30,356,391 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7740:Haus5
|
UTSW |
7 |
30,362,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8329:Haus5
|
UTSW |
7 |
30,358,984 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9686:Haus5
|
UTSW |
7 |
30,361,398 (GRCm39) |
missense |
probably benign |
0.23 |
|
U24488:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
Z1186:Haus5
|
UTSW |
7 |
30,361,072 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Haus5
|
UTSW |
7 |
30,358,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:Haus5
|
UTSW |
7 |
30,357,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Haus5
|
UTSW |
7 |
30,362,541 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Haus5
|
UTSW |
7 |
30,361,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation