Incidental Mutation 'R0547:Haus5'
| ID |
44898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Haus5
|
| Ensembl Gene |
ENSMUSG00000078762 |
| Gene Name |
HAUS augmin-like complex, subunit 5 |
| Synonyms |
2310022K01Rik |
| MMRRC Submission |
038739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R0547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30353136-30364419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30358508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 289
(S289T)
|
| 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: S289T
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000019697
Gene: ENSMUSG00000078762
AA Change: S289T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS5
|
7 |
617 |
9.8e-181 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126511
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132862
AA Change: S289T
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121739
Gene: ENSMUSG00000078762
AA Change: S289T
| 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
|
| Meta Mutation Damage Score |
0.1230 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
98% (57/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,498 (GRCm39) |
Y181H |
probably benign |
Het |
| A530084C06Rik |
A |
G |
13: 31,742,813 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,274,592 (GRCm39) |
D1208G |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,504,757 (GRCm39) |
F501S |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,349,201 (GRCm39) |
D656N |
probably damaging |
Het |
| Atr |
A |
T |
9: 95,781,218 (GRCm39) |
|
probably benign |
Het |
| Bicra |
G |
A |
7: 15,706,173 (GRCm39) |
R1423W |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Cdon |
A |
T |
9: 35,368,794 (GRCm39) |
T343S |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,777,181 (GRCm39) |
|
probably null |
Het |
| Cimap1a |
A |
G |
7: 140,428,728 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
C |
1: 171,949,254 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,749,854 (GRCm39) |
D265G |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,654,157 (GRCm39) |
C759S |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,021,757 (GRCm39) |
M3470V |
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,677,500 (GRCm39) |
N177S |
probably damaging |
Het |
| Etfb |
C |
T |
7: 43,104,002 (GRCm39) |
Q145* |
probably null |
Het |
| Flnb |
T |
A |
14: 7,912,943 (GRCm38) |
|
probably null |
Het |
| G430095P16Rik |
G |
A |
8: 85,453,271 (GRCm39) |
|
probably benign |
Het |
| Gfral |
A |
T |
9: 76,115,924 (GRCm39) |
S17T |
probably benign |
Het |
| Gpr26 |
T |
C |
7: 131,586,026 (GRCm39) |
I332T |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,773,412 (GRCm39) |
T221S |
probably benign |
Het |
| Ighv6-4 |
T |
C |
12: 114,370,221 (GRCm39) |
Y77C |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,685 (GRCm39) |
D548E |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,463,235 (GRCm39) |
F86Y |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,480,210 (GRCm39) |
M424K |
probably benign |
Het |
| Jam3 |
A |
G |
9: 27,010,184 (GRCm39) |
Y267H |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,510,990 (GRCm39) |
N326S |
unknown |
Het |
| Mms19 |
A |
T |
19: 41,951,857 (GRCm39) |
M160K |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Mup5 |
A |
G |
4: 61,751,237 (GRCm39) |
L137P |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,022,184 (GRCm39) |
S413N |
probably damaging |
Het |
| Nuak2 |
C |
A |
1: 132,259,941 (GRCm39) |
T573N |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,575 (GRCm39) |
I239K |
probably benign |
Het |
| Or52h9 |
G |
A |
7: 104,202,563 (GRCm39) |
V146M |
probably benign |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
A |
5: 14,842,086 (GRCm39) |
I4787N |
unknown |
Het |
| Pde8a |
G |
T |
7: 80,973,878 (GRCm39) |
V612L |
probably benign |
Het |
| Pear1 |
A |
T |
3: 87,696,107 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
A |
G |
13: 21,607,688 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,786,448 (GRCm39) |
|
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,783,879 (GRCm39) |
|
probably null |
Het |
| Rsph9 |
A |
T |
17: 46,455,050 (GRCm39) |
S9T |
possibly damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,612,876 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,996,189 (GRCm39) |
E756G |
probably damaging |
Het |
| Serpina1e |
G |
T |
12: 103,915,450 (GRCm39) |
T252K |
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,484,510 (GRCm39) |
S1555T |
probably benign |
Het |
| Slain1 |
T |
C |
14: 103,932,711 (GRCm39) |
S432P |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,144,418 (GRCm39) |
|
probably null |
Het |
| Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,943,907 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,470,842 (GRCm39) |
T944A |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,684,774 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,973,331 (GRCm39) |
S323P |
possibly damaging |
Het |
| Zfp827 |
A |
G |
8: 79,786,939 (GRCm39) |
N35S |
probably damaging |
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 |
|
IGL02427:Haus5
|
APN |
7 |
30,361,196 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCTGCTGAGGGAACATCTTTAC -3'
(R):5'- TGGAACTGAATGCCAGCCAGTC -3'
Sequencing Primer
(F):5'- GAGGGAACATCTTTACCTCTCACTG -3'
(R):5'- ATGCCAGCCAGTCACAGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation