Incidental Mutation 'IGL02058:Hus1b'
| ID |
185315 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hus1b
|
| Ensembl Gene |
ENSMUSG00000076430 |
| Gene Name |
HUS1 checkpoint clamp component B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL02058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
31130559-31131744 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31130900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 253
(L253S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021785]
[ENSMUST00000102943]
[ENSMUST00000102946]
|
| AlphaFold |
Q8K572 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021785
|
| SMART Domains |
Protein: ENSMUSP00000021785
Gene: ENSMUSG00000021357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIG
|
8 |
92 |
3.2e-10 |
PFAM |
|
Pfam:Sec5
|
198 |
377 |
3.6e-59 |
PFAM |
|
low complexity region
|
572 |
585 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102943
AA Change: L253S
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000100007
Gene: ENSMUSG00000076430
AA Change: L253S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hus1
|
1 |
276 |
1.5e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102946
|
| SMART Domains |
Protein: ENSMUSP00000100010
Gene: ENSMUSG00000021357
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIG
|
8 |
92 |
2.5e-10 |
PFAM |
|
Pfam:Sec5
|
198 |
377 |
7.5e-59 |
PFAM |
|
low complexity region
|
572 |
585 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223216
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
A |
2: 69,073,842 (GRCm39) |
A1228S |
probably damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,338 (GRCm39) |
D1584G |
probably damaging |
Het |
| Asns |
A |
G |
6: 7,685,184 (GRCm39) |
C158R |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,753,540 (GRCm39) |
L714P |
probably damaging |
Het |
| Ccdc126 |
G |
T |
6: 49,311,134 (GRCm39) |
E47D |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,646,500 (GRCm39) |
S183G |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,176,321 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
T |
15: 74,725,038 (GRCm39) |
N270K |
probably benign |
Het |
| Ephx2 |
A |
G |
14: 66,341,173 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,867,414 (GRCm39) |
T683I |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,278 (GRCm39) |
C563Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,579,932 (GRCm39) |
N1935S |
probably benign |
Het |
| Kmt5b |
T |
C |
19: 3,843,181 (GRCm39) |
Y93H |
probably damaging |
Het |
| Krt73 |
A |
T |
15: 101,710,456 (GRCm39) |
S93T |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,727,306 (GRCm39) |
V917A |
probably benign |
Het |
| Map2k6 |
C |
T |
11: 110,383,409 (GRCm39) |
T106M |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,235,463 (GRCm39) |
S664P |
probably damaging |
Het |
| Nmt1 |
C |
T |
11: 102,943,116 (GRCm39) |
T157I |
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,560,051 (GRCm39) |
S1259P |
probably damaging |
Het |
| Pak1 |
C |
T |
7: 97,560,322 (GRCm39) |
A523V |
probably damaging |
Het |
| Parpbp |
A |
C |
10: 87,979,898 (GRCm39) |
S19R |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,376,382 (GRCm39) |
T1251N |
possibly damaging |
Het |
| Phaf1 |
T |
A |
8: 105,966,341 (GRCm39) |
I105N |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 72,010,965 (GRCm39) |
N22K |
probably benign |
Het |
| Pkn1 |
G |
T |
8: 84,407,854 (GRCm39) |
C418* |
probably null |
Het |
| Pkn2 |
A |
G |
3: 142,509,424 (GRCm39) |
F723L |
probably damaging |
Het |
| Pkp4 |
C |
T |
2: 59,142,073 (GRCm39) |
R459* |
probably null |
Het |
| Prex1 |
A |
C |
2: 166,427,103 (GRCm39) |
S871A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,502 (GRCm39) |
T1531A |
probably benign |
Het |
| Rad1 |
C |
A |
15: 10,493,361 (GRCm39) |
Q263K |
probably benign |
Het |
| Sh2d6 |
C |
A |
6: 72,490,961 (GRCm39) |
G307* |
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,811 (GRCm39) |
N306K |
probably damaging |
Het |
| Spock3 |
A |
T |
8: 63,698,232 (GRCm39) |
R195* |
probably null |
Het |
| Stil |
A |
G |
4: 114,871,359 (GRCm39) |
S310G |
probably benign |
Het |
| Wbp1l |
T |
A |
19: 46,640,959 (GRCm39) |
C80* |
probably null |
Het |
| Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
Het |
|
| Other mutations in Hus1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00917:Hus1b
|
APN |
13 |
31,131,527 (GRCm39) |
missense |
probably benign |
|
|
R1104:Hus1b
|
UTSW |
13 |
31,131,679 (GRCm39) |
intron |
probably benign |
|
|
R1476:Hus1b
|
UTSW |
13 |
31,130,984 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3154:Hus1b
|
UTSW |
13 |
31,131,236 (GRCm39) |
missense |
probably benign |
|
|
R4551:Hus1b
|
UTSW |
13 |
31,131,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Hus1b
|
UTSW |
13 |
31,131,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5481:Hus1b
|
UTSW |
13 |
31,130,942 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6416:Hus1b
|
UTSW |
13 |
31,131,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6519:Hus1b
|
UTSW |
13 |
31,130,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7057:Hus1b
|
UTSW |
13 |
31,131,533 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7569:Hus1b
|
UTSW |
13 |
31,130,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Hus1b
|
UTSW |
13 |
31,131,215 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9210:Hus1b
|
UTSW |
13 |
31,130,858 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9212:Hus1b
|
UTSW |
13 |
31,130,858 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9430:Hus1b
|
UTSW |
13 |
31,131,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Hus1b
|
UTSW |
13 |
31,130,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-05-07 |
Incidental Mutation