Incidental Mutation 'R2760:Haus6'
| ID |
253983 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2760 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
86497092-86530292 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 86501413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 819
(Y819*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070607]
|
| AlphaFold |
Q6NV99 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070607
AA Change: Y819*
|
| SMART Domains |
Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047
AA Change: Y819*
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,097,641 (GRCm39) |
V796I |
probably benign |
Het |
| Btnl1 |
T |
G |
17: 34,600,012 (GRCm39) |
W172G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,176,899 (GRCm39) |
T21A |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,525,837 (GRCm39) |
H257R |
probably benign |
Het |
| Frmpd1 |
A |
C |
4: 45,244,667 (GRCm39) |
I119L |
possibly damaging |
Het |
| Ildr2 |
A |
G |
1: 166,131,175 (GRCm39) |
R344G |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,291 (GRCm39) |
I642V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lum |
T |
C |
10: 97,404,633 (GRCm39) |
V176A |
probably benign |
Het |
| Nobox |
A |
G |
6: 43,281,040 (GRCm39) |
L478P |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,692 (GRCm39) |
M1K |
probably null |
Het |
| Or4a67 |
T |
A |
2: 88,597,980 (GRCm39) |
R226S |
possibly damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,583 (GRCm39) |
H248R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,802 (GRCm39) |
V225A |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,876 (GRCm39) |
Y279F |
probably damaging |
Het |
| Rtn1 |
A |
T |
12: 72,455,136 (GRCm39) |
C64S |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,029,260 (GRCm39) |
Y285C |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,195,997 (GRCm39) |
M335I |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,927,840 (GRCm39) |
I648K |
probably damaging |
Het |
| Ube3d |
T |
C |
9: 86,305,027 (GRCm39) |
I272V |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,566,622 (GRCm39) |
V1180A |
probably damaging |
Het |
| Vill |
T |
C |
9: 118,895,950 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,901 (GRCm39) |
I229T |
probably benign |
Het |
| Zbtb8b |
A |
T |
4: 129,326,293 (GRCm39) |
L291M |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGGGAAGATGGCTTTGC -3'
(R):5'- CCACACATAAAACTCTGTTATGGG -3'
Sequencing Primer
(F):5'- GATGGCTTTGCGTAGTCAATAAAC -3'
(R):5'- AACTCTGTTATGGGATTCTTTTCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation