Incidental Mutation 'R6297:Haus5'
ID |
508840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Haus5
|
Ensembl Gene |
ENSMUSG00000078762 |
Gene Name |
HAUS augmin-like complex, subunit 5 |
Synonyms |
2310022K01Rik |
MMRRC Submission |
044464-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.939)
|
Stock # |
R6297 (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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
98% (45/46) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,926,179 (GRCm39) |
V1205A |
probably benign |
Het |
Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
Ate1 |
A |
G |
7: 130,105,570 (GRCm39) |
V316A |
probably damaging |
Het |
Bpifa1 |
A |
G |
2: 153,986,180 (GRCm39) |
I102V |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,557,655 (GRCm39) |
|
probably null |
Het |
Ccdc47 |
T |
C |
11: 106,094,427 (GRCm39) |
Y324C |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,985,564 (GRCm39) |
K341E |
possibly damaging |
Het |
Cenpb |
A |
G |
2: 131,020,289 (GRCm39) |
|
probably benign |
Het |
Dgkd |
A |
G |
1: 87,853,866 (GRCm39) |
I570V |
possibly damaging |
Het |
Dhx32 |
A |
T |
7: 133,344,529 (GRCm39) |
Y27N |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,852,144 (GRCm39) |
D1824G |
possibly damaging |
Het |
Fbxo8 |
T |
A |
8: 57,022,323 (GRCm39) |
C112S |
probably damaging |
Het |
Fndc3a |
T |
C |
14: 72,800,980 (GRCm39) |
D590G |
probably damaging |
Het |
Gm19965 |
T |
A |
1: 116,750,410 (GRCm39) |
I697N |
possibly damaging |
Het |
Greb1l |
G |
A |
18: 10,469,494 (GRCm39) |
D170N |
probably damaging |
Het |
Igfn1 |
A |
T |
1: 135,892,399 (GRCm39) |
|
probably null |
Het |
Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
Ints15 |
A |
T |
5: 143,293,787 (GRCm39) |
L230Q |
possibly damaging |
Het |
Lman2 |
T |
C |
13: 55,496,244 (GRCm39) |
N267S |
probably damaging |
Het |
Lrfn5 |
A |
T |
12: 61,890,348 (GRCm39) |
I546F |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,459,964 (GRCm39) |
S197P |
probably damaging |
Het |
Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,553,027 (GRCm39) |
Y793H |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,730,054 (GRCm39) |
R2799* |
probably null |
Het |
Mup13 |
T |
A |
4: 61,181,634 (GRCm39) |
I148F |
probably benign |
Het |
Or2aj5 |
A |
C |
16: 19,424,680 (GRCm39) |
V246G |
possibly damaging |
Het |
Or5m10 |
A |
G |
2: 85,717,159 (GRCm39) |
N5S |
probably benign |
Het |
Or8g53 |
A |
T |
9: 39,683,522 (GRCm39) |
D191E |
possibly damaging |
Het |
Pdgfra |
A |
G |
5: 75,334,135 (GRCm39) |
K403E |
possibly damaging |
Het |
Pigz |
A |
T |
16: 31,763,755 (GRCm39) |
Y271F |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,104,472 (GRCm39) |
L517P |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,642,132 (GRCm39) |
L232P |
probably damaging |
Het |
Rpa3 |
C |
A |
6: 8,256,767 (GRCm39) |
G71* |
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,287,584 (GRCm39) |
T623A |
probably benign |
Het |
Sltm |
A |
G |
9: 70,488,641 (GRCm39) |
D597G |
probably damaging |
Het |
Stpg2 |
T |
C |
3: 139,407,432 (GRCm39) |
V528A |
possibly damaging |
Het |
Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
Tas1r2 |
T |
A |
4: 139,389,361 (GRCm39) |
M419K |
possibly damaging |
Het |
Txndc16 |
T |
C |
14: 45,389,243 (GRCm39) |
T486A |
probably benign |
Het |
Vamp9 |
A |
G |
5: 100,089,092 (GRCm39) |
Y119C |
probably damaging |
Het |
Vmn1r185 |
A |
G |
7: 26,311,046 (GRCm39) |
V153A |
probably benign |
Het |
Vmn2r48 |
T |
C |
7: 9,668,807 (GRCm39) |
N548D |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,215,895 (GRCm39) |
I378T |
possibly damaging |
Het |
Wdr37 |
A |
G |
13: 8,892,764 (GRCm39) |
|
probably null |
Het |
Xrn2 |
G |
A |
2: 146,868,490 (GRCm39) |
R181H |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
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 |
R6293:Haus5
|
UTSW |
7 |
30,358,401 (GRCm39) |
nonsense |
probably null |
|
R6296: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'- AGTAGACAACATTCAGTATCCCCAG -3'
(R):5'- ACTGAATGCCAGCCAGTCAC -3'
Sequencing Primer
(F):5'- AACATTCAGTATCCCCAGCCTCTG -3'
(R):5'- AGGGAACACTGATATTGACTACC -3'
|
Posted On |
2018-04-02 |