Incidental Mutation 'R6424:Haus8'
| ID |
518265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Haus8
|
| Ensembl Gene |
ENSMUSG00000035439 |
| Gene Name |
4HAUS augmin-like complex, subunit 8 |
| Synonyms |
2410004L22Rik, Hice1 |
| MMRRC Submission |
044387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R6424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71703241-71725234 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 71704080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 359
(W359*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035960]
[ENSMUST00000110071]
[ENSMUST00000123495]
|
| AlphaFold |
Q99L00 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035960
AA Change: W360*
|
| SMART Domains |
Protein: ENSMUSP00000040802
Gene: ENSMUSG00000035439
AA Change: W360*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
coiled coil region
|
164 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110071
AA Change: W359*
|
| SMART Domains |
Protein: ENSMUSP00000105698
Gene: ENSMUSG00000035439
AA Change: W359*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123495
|
| SMART Domains |
Protein: ENSMUSP00000123517
Gene: ENSMUSG00000035439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157039
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,460,542 (GRCm39) |
V4184A |
probably benign |
Het |
| Acvr2b |
T |
A |
9: 119,231,645 (GRCm39) |
W12R |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,840,707 (GRCm39) |
K720E |
probably damaging |
Het |
| Cr1l |
A |
C |
1: 194,800,123 (GRCm39) |
F184V |
probably damaging |
Het |
| Insm2 |
A |
T |
12: 55,646,867 (GRCm39) |
I204F |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,820,144 (GRCm39) |
I97N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,453,946 (GRCm39) |
K945N |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,699,080 (GRCm39) |
C63* |
probably null |
Het |
| Nbas |
T |
C |
12: 13,465,734 (GRCm39) |
|
probably null |
Het |
| Or5p1 |
G |
A |
7: 107,916,412 (GRCm39) |
V104I |
probably benign |
Het |
| Raf1 |
T |
C |
6: 115,596,542 (GRCm39) |
E594G |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Scgb2b19 |
A |
C |
7: 32,978,022 (GRCm39) |
S92A |
possibly damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,199,359 (GRCm39) |
*387Y |
probably null |
Het |
| Shpk |
A |
T |
11: 73,104,318 (GRCm39) |
I156F |
possibly damaging |
Het |
| Smarcd1 |
T |
C |
15: 99,602,248 (GRCm39) |
F128L |
probably damaging |
Het |
| Tars3 |
G |
A |
7: 65,305,487 (GRCm39) |
G237E |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,719,848 (GRCm39) |
|
probably benign |
Het |
| Vmn1r223 |
T |
A |
13: 23,434,345 (GRCm39) |
I313N |
probably damaging |
Het |
|
| Other mutations in Haus8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Haus8
|
APN |
8 |
71,708,289 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01298:Haus8
|
APN |
8 |
71,705,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Haus8
|
APN |
8 |
71,705,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02034:Haus8
|
APN |
8 |
71,708,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Haus8
|
APN |
8 |
71,708,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Haus8
|
APN |
8 |
71,710,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02871:Haus8
|
APN |
8 |
71,709,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02939:Haus8
|
APN |
8 |
71,708,361 (GRCm39) |
splice site |
probably benign |
|
|
R0486:Haus8
|
UTSW |
8 |
71,709,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0486:Haus8
|
UTSW |
8 |
71,709,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Haus8
|
UTSW |
8 |
71,709,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Haus8
|
UTSW |
8 |
71,708,767 (GRCm39) |
intron |
probably benign |
|
|
R2327:Haus8
|
UTSW |
8 |
71,708,289 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4575:Haus8
|
UTSW |
8 |
71,715,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5294:Haus8
|
UTSW |
8 |
71,708,354 (GRCm39) |
missense |
unknown |
|
|
R7231:Haus8
|
UTSW |
8 |
71,705,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8071:Haus8
|
UTSW |
8 |
71,708,695 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8815:Haus8
|
UTSW |
8 |
71,705,910 (GRCm39) |
splice site |
probably benign |
|
|
R9752:Haus8
|
UTSW |
8 |
71,715,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCTTCGGTCCACAAGG -3'
(R):5'- CTCACTTCCAAAGACACTTAGGG -3'
Sequencing Primer
(F):5'- CTTCGGTCCACAAGGAGGAG -3'
(R):5'- GAGTTCACTCTCCAGGACTGACATG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation