Incidental Mutation 'IGL00570:Haus6'
| ID |
6640 |
| 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: 0.673)
|
| Stock # |
IGL00570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
86497092-86530292 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86526218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 46
(F46L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070607]
[ENSMUST00000125481]
|
| AlphaFold |
Q6NV99 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070607
AA Change: F46L
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: F46L
| 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: ENSMUST00000123432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125481
|
| SMART Domains |
Protein: ENSMUSP00000118609
Gene: ENSMUSG00000038047
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS6_N
|
43 |
69 |
2.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128381
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,000,073 (GRCm39) |
I1014V |
probably benign |
Het |
| Adam10 |
A |
G |
9: 70,626,028 (GRCm39) |
T99A |
possibly damaging |
Het |
| Adam11 |
A |
T |
11: 102,667,176 (GRCm39) |
I610F |
possibly damaging |
Het |
| Bcl2 |
T |
C |
1: 106,640,088 (GRCm39) |
T175A |
possibly damaging |
Het |
| Col25a1 |
C |
T |
3: 130,340,081 (GRCm39) |
|
probably benign |
Het |
| Dlat |
A |
T |
9: 50,556,332 (GRCm39) |
|
probably benign |
Het |
| Enah |
T |
C |
1: 181,763,261 (GRCm39) |
|
probably benign |
Het |
| Gm29253 |
T |
C |
1: 75,151,118 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,074,138 (GRCm39) |
Y337F |
probably damaging |
Het |
| Gsto1 |
T |
C |
19: 47,846,375 (GRCm39) |
V74A |
probably benign |
Het |
| Hdac3 |
G |
A |
18: 38,077,174 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,735,719 (GRCm39) |
S3462G |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,309,830 (GRCm39) |
Y207C |
possibly damaging |
Het |
| Nat10 |
T |
A |
2: 103,556,109 (GRCm39) |
|
probably null |
Het |
| Nphp1 |
A |
C |
2: 127,605,805 (GRCm39) |
V340G |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,326,545 (GRCm39) |
G1170E |
probably benign |
Het |
| Plcg1 |
T |
A |
2: 160,599,186 (GRCm39) |
V878E |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,729,925 (GRCm39) |
F69S |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,486 (GRCm39) |
I1733T |
probably damaging |
Het |
| Slc6a2 |
T |
C |
8: 93,723,685 (GRCm39) |
V601A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,574 (GRCm39) |
I438T |
possibly damaging |
Het |
| Unc93a |
C |
A |
17: 13,339,643 (GRCm39) |
|
probably null |
Het |
| Zfp616 |
G |
A |
11: 73,976,631 (GRCm39) |
A967T |
probably benign |
Het |
|
| Other mutations in Haus6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02307:Haus6
|
APN |
4 |
86,502,072 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03113:Haus6
|
APN |
4 |
86,501,343 (GRCm39) |
nonsense |
probably null |
|
|
IGL03384:Haus6
|
APN |
4 |
86,501,762 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation