Incidental Mutation 'R0046:Haus5'
| ID |
16044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Haus5
|
| Ensembl Gene |
ENSMUSG00000078762 |
| Gene Name |
HAUS augmin-like complex, subunit 5 |
| Synonyms |
2310022K01Rik |
| MMRRC Submission |
038340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R0046 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30353136-30364419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30353605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 591
(V591I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019697]
[ENSMUST00000042726]
[ENSMUST00000108141]
[ENSMUST00000132862]
|
| AlphaFold |
Q9D786 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019697
AA Change: V591I
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000019697
Gene: ENSMUSG00000078762
AA Change: V591I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS5
|
7 |
617 |
9.8e-181 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042726
|
| SMART Domains |
Protein: ENSMUSP00000040005
Gene: ENSMUSG00000036733
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
355 |
N/A |
INTRINSIC |
|
RRM
|
380 |
453 |
1.11e-21 |
SMART |
|
low complexity region
|
467 |
474 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108141
|
| SMART Domains |
Protein: ENSMUSP00000103776
Gene: ENSMUSG00000036733
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
326 |
N/A |
INTRINSIC |
|
RRM
|
351 |
424 |
1.11e-21 |
SMART |
|
low complexity region
|
438 |
445 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132862
|
| SMART Domains |
Protein: ENSMUSP00000121739
Gene: ENSMUSG00000078762
| 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: ENSMUST00000146232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181529
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.2%
- 10x: 78.3%
- 20x: 64.0%
|
| Validation Efficiency |
98% (86/88) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
A |
T |
4: 56,743,877 (GRCm39) |
K135* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,911,579 (GRCm39) |
S871P |
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,367,403 (GRCm39) |
I558F |
probably damaging |
Het |
| Adsl |
T |
G |
15: 80,846,989 (GRCm39) |
|
probably null |
Het |
| Aldob |
T |
C |
4: 49,543,842 (GRCm39) |
I47V |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,343,247 (GRCm39) |
E46G |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,067,664 (GRCm39) |
L533Q |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,799,624 (GRCm39) |
|
noncoding transcript |
Het |
| B3gnt3 |
T |
C |
8: 72,145,567 (GRCm39) |
Y267C |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,898,301 (GRCm39) |
F15L |
possibly damaging |
Het |
| Cntnap5c |
T |
G |
17: 58,666,295 (GRCm39) |
D1108E |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,272,359 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,251,280 (GRCm39) |
A317T |
possibly damaging |
Het |
| Cpt1c |
A |
T |
7: 44,609,256 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,761,559 (GRCm39) |
|
probably null |
Het |
| Crebrf |
T |
A |
17: 26,982,308 (GRCm39) |
L565M |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,149 (GRCm39) |
V1102E |
probably benign |
Het |
| Dock4 |
G |
A |
12: 40,787,359 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
G |
T |
19: 4,964,671 (GRCm39) |
N545K |
probably damaging |
Het |
| Elmo2 |
T |
A |
2: 165,140,646 (GRCm39) |
N275I |
probably damaging |
Het |
| Farp1 |
A |
G |
14: 121,492,925 (GRCm39) |
K509R |
probably benign |
Het |
| Flg |
T |
A |
3: 93,185,028 (GRCm39) |
|
probably benign |
Het |
| Gas2l2 |
A |
T |
11: 83,312,736 (GRCm39) |
W859R |
probably damaging |
Het |
| Gatm |
T |
C |
2: 122,431,225 (GRCm39) |
D254G |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,998 (GRCm39) |
I27F |
probably damaging |
Het |
| Gm19410 |
A |
G |
8: 36,269,799 (GRCm39) |
E1148G |
probably benign |
Het |
| Kcnab3 |
G |
A |
11: 69,221,053 (GRCm39) |
|
probably null |
Het |
| Limk1 |
T |
C |
5: 134,701,615 (GRCm39) |
Y96C |
probably damaging |
Het |
| Lrp2bp |
T |
A |
8: 46,466,192 (GRCm39) |
Y100* |
probably null |
Het |
| Ly75 |
A |
T |
2: 60,169,801 (GRCm39) |
|
probably benign |
Het |
| Mamstr |
T |
G |
7: 45,291,194 (GRCm39) |
|
probably benign |
Het |
| Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,929,591 (GRCm39) |
P1672S |
possibly damaging |
Het |
| Mboat7 |
T |
C |
7: 3,686,817 (GRCm39) |
Y341C |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,401,417 (GRCm39) |
N881I |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,733,236 (GRCm39) |
Y225C |
probably benign |
Het |
| Or4c109 |
C |
T |
2: 88,817,693 (GRCm39) |
M284I |
probably benign |
Het |
| Or4c35 |
C |
T |
2: 89,808,851 (GRCm39) |
T243I |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,590,493 (GRCm39) |
T931M |
unknown |
Het |
| Pfas |
G |
T |
11: 68,881,293 (GRCm39) |
R1025S |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,837 (GRCm39) |
T279A |
possibly damaging |
Het |
| Psma1 |
A |
T |
7: 113,866,440 (GRCm39) |
|
probably benign |
Het |
| Rab11fip1 |
A |
G |
8: 27,643,149 (GRCm39) |
L550P |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
| Rmnd5a |
T |
C |
6: 71,376,215 (GRCm39) |
H195R |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,708,830 (GRCm39) |
L750P |
probably damaging |
Het |
| Rtcb |
T |
C |
10: 85,793,520 (GRCm39) |
N18D |
probably benign |
Het |
| Seh1l |
T |
C |
18: 67,925,086 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,795,405 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,281,285 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,410,294 (GRCm39) |
Q829* |
probably null |
Het |
| Tsbp1 |
T |
C |
17: 34,679,095 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,781,886 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,091,940 (GRCm39) |
E1756G |
probably damaging |
Het |
| Usp35 |
A |
T |
7: 96,962,804 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
A |
G |
4: 136,714,589 (GRCm39) |
C1067R |
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 |
|
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 |
2013-01-08 |
Incidental Mutation