Incidental Mutation 'IGL03384:Haus6'
| ID |
420795 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Haus6
|
| Ensembl Gene |
ENSMUSG00000038047 |
| Gene Name |
HAUS augmin-like complex, subunit 6 |
| Synonyms |
D4Ertd27e, 6230416J20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.678)
|
| Stock # |
IGL03384
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
86497092-86530292 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86501762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 703
(H703R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070607]
|
| AlphaFold |
Q6NV99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070607
AA Change: H703R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: H703R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS6_N
|
14 |
238 |
1.1e-77 |
PFAM |
|
low complexity region
|
613 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
927 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158333
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E2.5 and E7.5 with delayed or incomplete clustering of microtubule-organizing centers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,673 (GRCm39) |
I246T |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 36,032,216 (GRCm39) |
R614C |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,757,102 (GRCm39) |
L265P |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,462,159 (GRCm39) |
C1072Y |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,950 (GRCm39) |
V148A |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,573,514 (GRCm39) |
V2942M |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,177,673 (GRCm39) |
H442L |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,368 (GRCm39) |
T1573A |
probably benign |
Het |
| Iftap |
G |
T |
2: 101,415,608 (GRCm39) |
T115N |
probably benign |
Het |
| Ighv1-31 |
A |
G |
12: 114,793,093 (GRCm39) |
F48L |
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,226,203 (GRCm39) |
A697D |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,872,228 (GRCm39) |
N94Y |
probably benign |
Het |
| Kank2 |
C |
T |
9: 21,685,874 (GRCm39) |
V667M |
possibly damaging |
Het |
| Mcam |
G |
A |
9: 44,051,809 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,366,140 (GRCm39) |
I2099F |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,742,800 (GRCm39) |
I410V |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,902,425 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
T |
5: 24,902,424 (GRCm39) |
|
probably null |
Het |
| Or10g9b |
T |
C |
9: 39,917,766 (GRCm39) |
T160A |
probably benign |
Het |
| Panx2 |
C |
T |
15: 88,952,322 (GRCm39) |
A271V |
possibly damaging |
Het |
| Papss1 |
T |
A |
3: 131,285,113 (GRCm39) |
H13Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,871 (GRCm39) |
T438A |
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,813,481 (GRCm39) |
C461S |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,990,853 (GRCm39) |
F985S |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,706,297 (GRCm39) |
I214T |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,762,880 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,030,402 (GRCm39) |
C343* |
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,117,612 (GRCm39) |
I310V |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,309,350 (GRCm39) |
F287S |
probably damaging |
Het |
| Usp30 |
A |
G |
5: 114,259,635 (GRCm39) |
D447G |
probably damaging |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,136 (GRCm39) |
Y249F |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,405 (GRCm39) |
T665A |
probably damaging |
Het |
| Vps37b |
A |
G |
5: 124,145,670 (GRCm39) |
|
probably null |
Het |
| Wfdc1 |
T |
A |
8: 120,413,016 (GRCm39) |
N198K |
probably benign |
Het |
|
| Other mutations in Haus6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Haus6
|
APN |
4 |
86,526,218 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02307:Haus6
|
APN |
4 |
86,502,072 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03113:Haus6
|
APN |
4 |
86,501,343 (GRCm39) |
nonsense |
probably null |
|
|
R0436:Haus6
|
UTSW |
4 |
86,504,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0491:Haus6
|
UTSW |
4 |
86,521,083 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0620:Haus6
|
UTSW |
4 |
86,501,751 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1118:Haus6
|
UTSW |
4 |
86,503,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1969:Haus6
|
UTSW |
4 |
86,522,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1985:Haus6
|
UTSW |
4 |
86,511,846 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2213:Haus6
|
UTSW |
4 |
86,500,229 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2448:Haus6
|
UTSW |
4 |
86,507,238 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2567:Haus6
|
UTSW |
4 |
86,504,122 (GRCm39) |
nonsense |
probably null |
|
|
R2760:Haus6
|
UTSW |
4 |
86,501,413 (GRCm39) |
nonsense |
probably null |
|
|
R3714:Haus6
|
UTSW |
4 |
86,521,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3962:Haus6
|
UTSW |
4 |
86,530,041 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4180:Haus6
|
UTSW |
4 |
86,501,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4736:Haus6
|
UTSW |
4 |
86,518,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4738:Haus6
|
UTSW |
4 |
86,518,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4929:Haus6
|
UTSW |
4 |
86,513,670 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4933:Haus6
|
UTSW |
4 |
86,503,524 (GRCm39) |
intron |
probably benign |
|
|
R5027:Haus6
|
UTSW |
4 |
86,523,933 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5199:Haus6
|
UTSW |
4 |
86,501,222 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5240:Haus6
|
UTSW |
4 |
86,501,415 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5580:Haus6
|
UTSW |
4 |
86,517,503 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5781:Haus6
|
UTSW |
4 |
86,519,500 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5865:Haus6
|
UTSW |
4 |
86,504,594 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5926:Haus6
|
UTSW |
4 |
86,517,553 (GRCm39) |
missense |
probably benign |
|
|
R6154:Haus6
|
UTSW |
4 |
86,501,993 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7166:Haus6
|
UTSW |
4 |
86,501,924 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7183:Haus6
|
UTSW |
4 |
86,501,989 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7418:Haus6
|
UTSW |
4 |
86,513,010 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7843:Haus6
|
UTSW |
4 |
86,504,578 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8893:Haus6
|
UTSW |
4 |
86,501,364 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9386:Haus6
|
UTSW |
4 |
86,502,101 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9449:Haus6
|
UTSW |
4 |
86,513,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Haus6
|
UTSW |
4 |
86,521,111 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2016-08-02 |
Incidental Mutation