Incidental Mutation 'R4363:Hus1'
| ID |
324992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hus1
|
| Ensembl Gene |
ENSMUSG00000020413 |
| Gene Name |
HUS1 checkpoint clamp component |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4363 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
8943137-8961191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 8948676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 242
(L242I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020683]
[ENSMUST00000129115]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020683
AA Change: L242I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413
AA Change: L242I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hus1
|
1 |
280 |
5.1e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129115
AA Change: L242I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413
AA Change: L242I
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
T |
19: 43,787,575 (GRCm39) |
W207L |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,151,303 (GRCm39) |
V1081E |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,003 (GRCm39) |
I400N |
possibly damaging |
Het |
| Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
C |
17: 29,893,206 (GRCm39) |
L75P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,582,722 (GRCm39) |
I72F |
probably damaging |
Het |
| Dsn1 |
A |
T |
2: 156,841,062 (GRCm39) |
I214K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,590,276 (GRCm39) |
W809R |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
| Fbxo33 |
T |
C |
12: 59,251,648 (GRCm39) |
H289R |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,331 (GRCm39) |
S1008P |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,781,100 (GRCm39) |
N189S |
probably benign |
Het |
| Hyou1 |
G |
A |
9: 44,291,912 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
A |
3: 86,997,792 (GRCm39) |
E244* |
probably null |
Het |
| Mmrn2 |
C |
T |
14: 34,119,934 (GRCm39) |
A268V |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,485,893 (GRCm39) |
A1023E |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,557,902 (GRCm39) |
I47V |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,544 (GRCm39) |
I45F |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Pak1 |
T |
C |
7: 97,532,793 (GRCm39) |
S198P |
possibly damaging |
Het |
| Pank1 |
A |
C |
19: 34,804,532 (GRCm39) |
V208G |
probably damaging |
Het |
| Pcdhga12 |
C |
G |
18: 37,899,214 (GRCm39) |
F15L |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,590,244 (GRCm39) |
D723G |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,104,020 (GRCm39) |
I147N |
probably damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,850,060 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,475,665 (GRCm39) |
Y4927C |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,794,766 (GRCm39) |
H477L |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r-ps69 |
T |
C |
7: 84,959,700 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02301:Hus1
|
APN |
11 |
8,946,915 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTAGCATGGCTACTGGC -3'
(R):5'- TAGGGTCTCTCAGTTAGTAAGTAAGC -3'
Sequencing Primer
(F):5'- CTAGCATGGCTACTGGCTTTCTG -3'
(R):5'- CTCAGTTAGTAAGTAAGCACGCTTTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation