Incidental Mutation 'IGL02301:Hus1'
ID |
290302 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hus1
|
Ensembl Gene |
ENSMUSG00000020413 |
Gene Name |
HUS1 checkpoint clamp component |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02301
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
8943137-8961191 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8946915 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 261
(T261A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020683]
[ENSMUST00000129115]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020683
AA Change: T261A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020683 Gene: ENSMUSG00000020413 AA Change: T261A
Domain | Start | End | E-Value | Type |
Pfam:Hus1
|
1 |
280 |
5.1e-86 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129115
AA Change: T261A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114339 Gene: ENSMUSG00000020413 AA Change: T261A
Domain | Start | End | E-Value | Type |
Pfam:Hus1
|
1 |
280 |
4.8e-89 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139877
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146002
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152890
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a component of a cell cycle checkpoint complex that causes cell cycle arrest in response to bulky DNA lesions and DNA replication blockage. Together with the proteins Rad9 and Rad1, the encoded protein forms a heterotrimeric complex known as the 9-1-1 complex. Mice lacking the encoded protein develop spontaneous chromosomal abnormalities resulting in embryonic lethality. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015] PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in yolk sac vascularization, placental abnormalities, extensive apoptosis, and midgestational lethality. Mutant cells show increased chromosomal abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
A |
G |
17: 32,551,900 (GRCm39) |
|
probably benign |
Het |
Alk |
T |
C |
17: 72,181,171 (GRCm39) |
Q1373R |
probably damaging |
Het |
Atf7ip2 |
T |
G |
16: 10,028,911 (GRCm39) |
S148A |
probably benign |
Het |
Bpi |
C |
T |
2: 158,116,734 (GRCm39) |
S377F |
probably damaging |
Het |
Ccni |
A |
T |
5: 93,336,034 (GRCm39) |
C122S |
possibly damaging |
Het |
Cd5l |
A |
G |
3: 87,273,300 (GRCm39) |
R90G |
probably benign |
Het |
Ceacam3 |
C |
T |
7: 16,897,026 (GRCm39) |
S664F |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,512,133 (GRCm39) |
D534E |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,822,826 (GRCm39) |
S2524R |
probably damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gart |
A |
G |
16: 91,418,725 (GRCm39) |
|
probably benign |
Het |
Gsdmc4 |
A |
G |
15: 63,767,113 (GRCm39) |
V219A |
probably benign |
Het |
Lman2l |
A |
G |
1: 36,482,624 (GRCm39) |
I84T |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,037,325 (GRCm39) |
V742M |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,567,679 (GRCm39) |
V267A |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,048,870 (GRCm39) |
T1803A |
probably benign |
Het |
Or1e17 |
T |
A |
11: 73,831,894 (GRCm39) |
M274K |
possibly damaging |
Het |
Or4f54 |
T |
A |
2: 111,123,042 (GRCm39) |
M143K |
probably benign |
Het |
Or6c70 |
A |
G |
10: 129,709,948 (GRCm39) |
F226S |
probably damaging |
Het |
Pate11 |
T |
C |
9: 36,388,483 (GRCm39) |
|
probably benign |
Het |
Pde5a |
G |
A |
3: 122,554,534 (GRCm39) |
R208Q |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,282,780 (GRCm39) |
N745S |
probably benign |
Het |
Ptgdr2 |
T |
A |
19: 10,917,573 (GRCm39) |
I30N |
possibly damaging |
Het |
Rap1gap2 |
G |
A |
11: 74,298,195 (GRCm39) |
T415I |
probably damaging |
Het |
Slc6a6 |
T |
C |
6: 91,703,037 (GRCm39) |
Y137H |
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,092,129 (GRCm39) |
D532E |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,042,306 (GRCm39) |
D543G |
probably damaging |
Het |
Trpc4 |
G |
A |
3: 54,198,653 (GRCm39) |
V526M |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,714,727 (GRCm39) |
I100V |
probably benign |
Het |
Vmn1r-ps123 |
A |
C |
13: 23,180,527 (GRCm39) |
|
noncoding transcript |
Het |
Vwa5b2 |
G |
A |
16: 20,423,540 (GRCm39) |
G1151D |
probably damaging |
Het |
Zfp358 |
T |
A |
8: 3,546,858 (GRCm39) |
I480N |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,508,202 (GRCm39) |
D714G |
probably damaging |
Het |
|
Other mutations in Hus1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01543:Hus1
|
APN |
11 |
8,950,082 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01974:Hus1
|
APN |
11 |
8,950,088 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02436:Hus1
|
APN |
11 |
8,956,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0694:Hus1
|
UTSW |
11 |
8,957,531 (GRCm39) |
nonsense |
probably null |
|
R2108:Hus1
|
UTSW |
11 |
8,961,110 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R2128:Hus1
|
UTSW |
11 |
8,956,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R2329:Hus1
|
UTSW |
11 |
8,957,492 (GRCm39) |
critical splice donor site |
probably null |
|
R4363:Hus1
|
UTSW |
11 |
8,948,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4420:Hus1
|
UTSW |
11 |
8,950,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R4453:Hus1
|
UTSW |
11 |
8,956,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Hus1
|
UTSW |
11 |
8,957,617 (GRCm39) |
splice site |
probably null |
|
R4818:Hus1
|
UTSW |
11 |
8,946,808 (GRCm39) |
utr 3 prime |
probably benign |
|
R4913:Hus1
|
UTSW |
11 |
8,946,856 (GRCm39) |
missense |
probably benign |
0.03 |
R4989:Hus1
|
UTSW |
11 |
8,956,027 (GRCm39) |
missense |
probably damaging |
0.97 |
R5402:Hus1
|
UTSW |
11 |
8,960,240 (GRCm39) |
critical splice donor site |
probably null |
|
R5902:Hus1
|
UTSW |
11 |
8,960,669 (GRCm39) |
intron |
probably benign |
|
R6402:Hus1
|
UTSW |
11 |
8,960,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Hus1
|
UTSW |
11 |
8,950,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R9155:Hus1
|
UTSW |
11 |
8,956,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R9469:Hus1
|
UTSW |
11 |
8,948,744 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |