Incidental Mutation 'IGL03113:Haus6'
| ID |
419274 |
| 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 # |
IGL03113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
86497092-86530292 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 86501343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 843
(Q843*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070607]
|
| AlphaFold |
Q6NV99 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070607
AA Change: Q843*
|
| SMART Domains |
Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: Q843*
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apof |
G |
A |
10: 128,105,568 (GRCm39) |
V241M |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,004,505 (GRCm39) |
I91N |
probably damaging |
Het |
| Arhgef17 |
G |
A |
7: 100,578,938 (GRCm39) |
T670I |
probably benign |
Het |
| Barhl1 |
T |
C |
2: 28,805,468 (GRCm39) |
D75G |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,638,108 (GRCm39) |
T432A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,640,951 (GRCm39) |
Y691N |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,191,557 (GRCm39) |
V340L |
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,744,348 (GRCm39) |
M5K |
possibly damaging |
Het |
| Cgn |
A |
G |
3: 94,686,544 (GRCm39) |
F253L |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,078,712 (GRCm39) |
K2003R |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,621,259 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,472,163 (GRCm39) |
N3535D |
possibly damaging |
Het |
| Exoc3 |
G |
A |
13: 74,341,232 (GRCm39) |
Q191* |
probably null |
Het |
| Fstl5 |
T |
A |
3: 76,337,099 (GRCm39) |
Y219* |
probably null |
Het |
| Gad2 |
T |
A |
2: 22,571,367 (GRCm39) |
L435Q |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,941,983 (GRCm39) |
V195A |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,006,395 (GRCm39) |
F998I |
probably damaging |
Het |
| Hsf5 |
A |
T |
11: 87,548,190 (GRCm39) |
E624D |
probably benign |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,776,001 (GRCm39) |
S186C |
possibly damaging |
Het |
| Klk15 |
T |
C |
7: 43,587,805 (GRCm39) |
F78L |
probably benign |
Het |
| Ldlr |
A |
G |
9: 21,651,124 (GRCm39) |
E514G |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,267,285 (GRCm39) |
|
probably benign |
Het |
| Miga2 |
A |
T |
2: 30,274,022 (GRCm39) |
I99F |
possibly damaging |
Het |
| Morc4 |
T |
C |
X: 138,758,605 (GRCm39) |
E189G |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,365,984 (GRCm39) |
Y170N |
possibly damaging |
Het |
| Or3a1b |
G |
A |
11: 74,012,529 (GRCm39) |
R138Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,379 (GRCm39) |
F10L |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,851 (GRCm39) |
V202D |
possibly damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,940 (GRCm39) |
R310W |
probably benign |
Het |
| Or5o1 |
T |
A |
X: 48,815,939 (GRCm39) |
N291Y |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,506 (GRCm39) |
Q54R |
probably benign |
Het |
| Or8g32 |
A |
C |
9: 39,305,981 (GRCm39) |
K295T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,784,793 (GRCm39) |
T1997I |
probably benign |
Het |
| Poln |
A |
G |
5: 34,274,206 (GRCm39) |
S377P |
probably benign |
Het |
| Rab22a |
T |
A |
2: 173,503,265 (GRCm39) |
V26E |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,439 (GRCm39) |
V382A |
possibly damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,723 (GRCm39) |
Q350K |
probably benign |
Het |
| Sult1d1 |
A |
T |
5: 87,707,738 (GRCm39) |
Y127* |
probably null |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,527 (GRCm39) |
Y115F |
probably benign |
Het |
| Zfp128 |
T |
A |
7: 12,624,314 (GRCm39) |
D227E |
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 |
|
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 |
2016-08-02 |
Incidental Mutation