Incidental Mutation 'R3962:Haus6'
ID |
312114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Haus6
|
Ensembl Gene |
ENSMUSG00000038047 |
Gene Name |
HAUS augmin-like complex, subunit 6 |
Synonyms |
D4Ertd27e, 6230416J20Rik |
MMRRC Submission |
040837-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.673)
|
Stock # |
R3962 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
86497092-86530292 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86530041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 4
(A4T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070607]
[ENSMUST00000125481]
|
AlphaFold |
Q6NV99 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070607
AA Change: A4T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070504 Gene: ENSMUSG00000038047 AA Change: A4T
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 |
possibly damaging
Transcript: ENSMUST00000125481
AA Change: A4T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118609 Gene: ENSMUSG00000038047 AA Change: A4T
Domain | Start | End | E-Value | Type |
Pfam:HAUS6_N
|
43 |
69 |
2.3e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128381
|
Meta Mutation Damage Score |
0.0989 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
96% (48/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCCCTTACACTGGTGACG -3'
(R):5'- AGTGTAGTCTTCCGCAAGCG -3'
Sequencing Primer
(F):5'- CACAGGGTTCTGCCGCC -3'
(R):5'- AGCGCTGCAGTCACTGTC -3'
|
Posted On |
2015-04-29 |