Incidental Mutation 'R2329:Hus1'
| ID |
245807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hus1
|
| Ensembl Gene |
ENSMUSG00000020413 |
| Gene Name |
HUS1 checkpoint clamp component |
| Synonyms |
|
| MMRRC Submission |
040320-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2329 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
8943137-8961191 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 8957492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020683]
[ENSMUST00000129115]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020683
|
| SMART Domains |
Protein: ENSMUSP00000020683
Gene: ENSMUSG00000020413
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hus1
|
1 |
280 |
5.1e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129115
|
| SMART Domains |
Protein: ENSMUSP00000114339
Gene: ENSMUSG00000020413
| 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: 94.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
C |
13: 77,451,444 (GRCm39) |
S843R |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,813,781 (GRCm39) |
R795S |
probably damaging |
Het |
| Adora2a |
T |
A |
10: 75,162,017 (GRCm39) |
V52E |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,323,520 (GRCm39) |
L594Q |
probably benign |
Het |
| Batf3 |
A |
T |
1: 190,840,646 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,513,610 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,862 (GRCm39) |
T123A |
possibly damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,834 (GRCm39) |
T1190A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,459,044 (GRCm39) |
Q298K |
possibly damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
C |
T |
15: 83,834,249 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,710 (GRCm39) |
M610I |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,356,933 (GRCm39) |
D38G |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,041,110 (GRCm39) |
T128A |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,301 (GRCm39) |
V340M |
probably damaging |
Het |
| Gm19684 |
T |
A |
17: 36,439,345 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
T |
A |
6: 42,223,848 (GRCm39) |
D86E |
possibly damaging |
Het |
| Kbtbd8 |
T |
C |
6: 95,103,761 (GRCm39) |
I547T |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,022,845 (GRCm39) |
H373L |
possibly damaging |
Het |
| Nostrin |
A |
T |
2: 68,991,438 (GRCm39) |
T144S |
probably damaging |
Het |
| Prl8a6 |
T |
C |
13: 27,621,050 (GRCm39) |
H60R |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,038,983 (GRCm39) |
I329T |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,492 (GRCm39) |
Y107* |
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,119,422 (GRCm39) |
T483A |
possibly damaging |
Het |
| Slc35c1 |
A |
T |
2: 92,289,040 (GRCm39) |
Y155* |
probably null |
Het |
| Susd1 |
T |
C |
4: 59,379,715 (GRCm39) |
D304G |
possibly damaging |
Het |
| Taf5 |
C |
T |
19: 47,063,563 (GRCm39) |
S371L |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,069 (GRCm39) |
T2362A |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,599,786 (GRCm39) |
P19102S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,608,412 (GRCm39) |
V17837A |
probably damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
C |
T |
9: 121,101,953 (GRCm39) |
E42K |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,387 (GRCm39) |
L44F |
probably damaging |
Het |
| Zfp932 |
A |
T |
5: 110,157,406 (GRCm39) |
H368L |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGAATGCATTTGCCCTC -3'
(R):5'- GTGGGTGGATTAAGAACATTCC -3'
Sequencing Primer
(F):5'- GCATTTGCCCTCCTGTGGAAAG -3'
(R):5'- CCATTTGGAACTGAAAATGTCTGGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation