Incidental Mutation 'R6293:Haus5'
| ID |
508552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Haus5
|
| Ensembl Gene |
ENSMUSG00000078762 |
| Gene Name |
HAUS augmin-like complex, subunit 5 |
| Synonyms |
2310022K01Rik |
| MMRRC Submission |
044462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R6293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30353136-30364419 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 30358401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 298
(W298*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019697]
[ENSMUST00000132862]
|
| AlphaFold |
Q9D786 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019697
AA Change: W298*
|
| SMART Domains |
Protein: ENSMUSP00000019697
Gene: ENSMUSG00000078762
AA Change: W298*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS5
|
7 |
617 |
9.8e-181 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126511
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132862
AA Change: W298*
|
| SMART Domains |
Protein: ENSMUSP00000121739
Gene: ENSMUSG00000078762
AA Change: W298*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS5
|
5 |
515 |
4.4e-182 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146232
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HAUS5 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,903,493 (GRCm39) |
I1048T |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Alkbh8 |
G |
T |
9: 3,347,841 (GRCm39) |
L211F |
possibly damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,307,885 (GRCm39) |
S375P |
possibly damaging |
Het |
| Apoc1 |
T |
A |
7: 19,425,817 (GRCm39) |
T68S |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,508 (GRCm39) |
Y1318N |
possibly damaging |
Het |
| Camsap2 |
C |
A |
1: 136,215,658 (GRCm39) |
R345L |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,398,659 (GRCm39) |
Q46* |
probably null |
Het |
| Cdk12 |
T |
A |
11: 98,115,379 (GRCm39) |
M840K |
unknown |
Het |
| Cfap251 |
A |
C |
5: 123,460,511 (GRCm39) |
N1158H |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,521,640 (GRCm39) |
N2772K |
probably benign |
Het |
| Dthd1 |
A |
G |
5: 63,000,193 (GRCm39) |
D505G |
probably damaging |
Het |
| Elf1 |
C |
T |
14: 79,798,226 (GRCm39) |
H38Y |
probably damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,072,173 (GRCm39) |
V272D |
probably damaging |
Het |
| Gm9964 |
T |
A |
11: 79,187,420 (GRCm39) |
K9M |
unknown |
Het |
| Gpr155 |
A |
G |
2: 73,204,341 (GRCm39) |
S158P |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,324,543 (GRCm39) |
S4635G |
possibly damaging |
Het |
| Lrch2 |
C |
T |
X: 146,263,553 (GRCm39) |
A369T |
probably damaging |
Homo |
| Lrrc8c |
A |
G |
5: 105,754,612 (GRCm39) |
Y129C |
probably damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mcm3ap |
C |
G |
10: 76,307,312 (GRCm39) |
Y418* |
probably null |
Het |
| Mpdz |
A |
G |
4: 81,278,293 (GRCm39) |
L764P |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,877,627 (GRCm39) |
D426G |
unknown |
Het |
| Ndel1 |
C |
T |
11: 68,727,101 (GRCm39) |
R192H |
probably damaging |
Het |
| Nudt21 |
T |
C |
8: 94,755,506 (GRCm39) |
D134G |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,022,371 (GRCm39) |
H113L |
probably damaging |
Het |
| Nxf1 |
A |
G |
19: 8,746,546 (GRCm39) |
K586E |
probably damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,613 (GRCm39) |
H176R |
probably damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,624 (GRCm39) |
E171G |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,108,099 (GRCm39) |
Y365C |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,560,497 (GRCm39) |
Y368C |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,515,465 (GRCm39) |
F649L |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,755,798 (GRCm39) |
Y205C |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,232,522 (GRCm39) |
N863S |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,605,019 (GRCm39) |
K2979R |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,840,253 (GRCm39) |
Y251C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,525,607 (GRCm39) |
W334R |
probably damaging |
Het |
| Rbm11 |
A |
T |
16: 75,393,655 (GRCm39) |
|
probably null |
Het |
| Rhbdl1 |
A |
G |
17: 26,053,943 (GRCm39) |
L309P |
probably damaging |
Het |
| Rhbg |
G |
A |
3: 88,153,133 (GRCm39) |
R274* |
probably null |
Het |
| Rpp30 |
A |
G |
19: 36,081,845 (GRCm39) |
*269W |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Slc44a1 |
A |
G |
4: 53,561,099 (GRCm39) |
K605R |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,927,346 (GRCm39) |
S80G |
probably benign |
Het |
| Tmem50b |
A |
T |
16: 91,380,164 (GRCm39) |
M71K |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Tyro3 |
A |
G |
2: 119,638,481 (GRCm39) |
T303A |
possibly damaging |
Het |
| Uba3 |
A |
T |
6: 97,173,869 (GRCm39) |
D105E |
probably damaging |
Het |
| Vmn1r21 |
T |
C |
6: 57,821,255 (GRCm39) |
D63G |
probably benign |
Het |
| Vstm2b |
T |
A |
7: 40,549,533 (GRCm39) |
I63N |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zscan22 |
T |
A |
7: 12,640,834 (GRCm39) |
C359* |
probably null |
Het |
|
| Other mutations in Haus5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Haus5
|
APN |
7 |
30,362,719 (GRCm39) |
splice site |
probably benign |
|
|
IGL02422:Haus5
|
APN |
7 |
30,359,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02427:Haus5
|
APN |
7 |
30,361,196 (GRCm39) |
missense |
probably benign |
|
|
IGL02626:Haus5
|
APN |
7 |
30,356,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Haus5
|
APN |
7 |
30,362,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Haus5
|
UTSW |
7 |
30,353,605 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0046:Haus5
|
UTSW |
7 |
30,353,605 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0511:Haus5
|
UTSW |
7 |
30,358,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Haus5
|
UTSW |
7 |
30,358,508 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1447:Haus5
|
UTSW |
7 |
30,361,216 (GRCm39) |
splice site |
probably null |
|
|
R1711:Haus5
|
UTSW |
7 |
30,357,328 (GRCm39) |
nonsense |
probably null |
|
|
R1852:Haus5
|
UTSW |
7 |
30,357,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1901:Haus5
|
UTSW |
7 |
30,356,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Haus5
|
UTSW |
7 |
30,358,825 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4832:Haus5
|
UTSW |
7 |
30,356,452 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4865:Haus5
|
UTSW |
7 |
30,357,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Haus5
|
UTSW |
7 |
30,353,651 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5168:Haus5
|
UTSW |
7 |
30,357,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5492:Haus5
|
UTSW |
7 |
30,358,380 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6296:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6297:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6332:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6334:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
R6964:Haus5
|
UTSW |
7 |
30,357,040 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7095:Haus5
|
UTSW |
7 |
30,358,997 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7348:Haus5
|
UTSW |
7 |
30,356,391 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7740:Haus5
|
UTSW |
7 |
30,362,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8329:Haus5
|
UTSW |
7 |
30,358,984 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9686:Haus5
|
UTSW |
7 |
30,361,398 (GRCm39) |
missense |
probably benign |
0.23 |
|
U24488:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
|
Z1186:Haus5
|
UTSW |
7 |
30,361,072 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Haus5
|
UTSW |
7 |
30,358,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:Haus5
|
UTSW |
7 |
30,357,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Haus5
|
UTSW |
7 |
30,362,541 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Haus5
|
UTSW |
7 |
30,361,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCCAGAGTAGACAACATTCAG -3'
(R):5'- ACTGAATGCCAGCCAGTCAC -3'
Sequencing Primer
(F):5'- GAGTAGACAACATTCAGTATCCCCAG -3'
(R):5'- AGGGAACACTGATATTGACTACC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation