Incidental Mutation 'IGL02838:Hcls1'
| ID |
361744 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hcls1
|
| Ensembl Gene |
ENSMUSG00000022831 |
| Gene Name |
hematopoietic cell specific Lyn substrate 1 |
| Synonyms |
HS1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
IGL02838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36755345-36783574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36782781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 439
(D439G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023531]
[ENSMUST00000075869]
[ENSMUST00000114806]
[ENSMUST00000164050]
|
| AlphaFold |
P49710 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023531
AA Change: D439G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: D439G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HS1_rep
|
82 |
117 |
6.6e-23 |
PFAM |
|
Pfam:HS1_rep
|
119 |
154 |
1.2e-23 |
PFAM |
|
Pfam:HS1_rep
|
156 |
191 |
3.3e-21 |
PFAM |
|
Pfam:HS1_rep
|
193 |
220 |
2.1e-14 |
PFAM |
|
coiled coil region
|
238 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
390 |
N/A |
INTRINSIC |
|
SH3
|
432 |
486 |
1.2e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075869
|
| SMART Domains |
Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRAF_2
|
12 |
104 |
6.1e-42 |
PFAM |
|
Pfam:F-box_4
|
571 |
686 |
1.2e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114806
|
| SMART Domains |
Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YRE|A
|
12 |
92 |
1e-27 |
PDB |
|
SCOP:d1k2fa_
|
62 |
97 |
5e-4 |
SMART |
|
Blast:FBOX
|
578 |
616 |
1e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164050
|
| SMART Domains |
Protein: ENSMUSP00000127186
Gene: ENSMUSG00000022831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HS1_rep
|
82 |
118 |
6e-24 |
PFAM |
|
Pfam:HS1_rep
|
119 |
136 |
1.1e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene show impaired antibody production to T-independent antigen and impaired proliferative responses of splenic B and T cells after cross-linking of antigen receptors. [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 |
|---|
| Arl4a |
T |
C |
12: 40,086,303 (GRCm39) |
E148G |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,939 (GRCm39) |
F419L |
probably damaging |
Het |
| Brpf3 |
G |
A |
17: 29,054,758 (GRCm39) |
R1100Q |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,321,394 (GRCm39) |
C1222R |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,785 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,502,567 (GRCm39) |
M775L |
probably benign |
Het |
| Ccdc60 |
A |
G |
5: 116,272,169 (GRCm39) |
S422P |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,899,849 (GRCm39) |
N59Y |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,789,084 (GRCm39) |
C29* |
probably null |
Het |
| Fgd5 |
T |
A |
6: 91,964,655 (GRCm39) |
M138K |
probably benign |
Het |
| Gpr107 |
G |
A |
2: 31,104,329 (GRCm39) |
G545S |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,560,430 (GRCm39) |
A1897T |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
| Itga5 |
C |
T |
15: 103,260,036 (GRCm39) |
A619T |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,511 (GRCm39) |
F412L |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,183,600 (GRCm39) |
Y924C |
probably damaging |
Het |
| Mtss1 |
T |
C |
15: 58,953,364 (GRCm39) |
I5V |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,797,631 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Nts |
C |
T |
10: 102,318,290 (GRCm39) |
V138M |
probably damaging |
Het |
| Or4q3 |
A |
G |
14: 50,583,312 (GRCm39) |
S165P |
probably damaging |
Het |
| Or5b116 |
T |
A |
19: 13,423,299 (GRCm39) |
S308T |
probably benign |
Het |
| Pard3 |
A |
G |
8: 128,153,128 (GRCm39) |
R900G |
probably damaging |
Het |
| Rbfa |
T |
C |
18: 80,236,050 (GRCm39) |
H233R |
probably benign |
Het |
| Rundc3a |
T |
A |
11: 102,288,521 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
G |
T |
3: 95,244,579 (GRCm39) |
|
probably null |
Het |
| Synpo |
T |
A |
18: 60,736,872 (GRCm39) |
N358I |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,908,606 (GRCm39) |
T1543S |
possibly damaging |
Het |
| Ugt1a8 |
T |
A |
1: 88,016,399 (GRCm39) |
Y271N |
probably benign |
Het |
| Vmn2r105 |
A |
C |
17: 20,447,847 (GRCm39) |
F326V |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,883,133 (GRCm39) |
R3560H |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,801,595 (GRCm39) |
R3510Q |
probably benign |
Het |
| Zcchc8 |
A |
T |
5: 123,857,546 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hcls1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00903:Hcls1
|
APN |
16 |
36,776,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01022:Hcls1
|
APN |
16 |
36,771,488 (GRCm39) |
intron |
probably benign |
|
|
R0125:Hcls1
|
UTSW |
16 |
36,782,525 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0137:Hcls1
|
UTSW |
16 |
36,771,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0230:Hcls1
|
UTSW |
16 |
36,758,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Hcls1
|
UTSW |
16 |
36,782,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Hcls1
|
UTSW |
16 |
36,783,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2246:Hcls1
|
UTSW |
16 |
36,782,984 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4037:Hcls1
|
UTSW |
16 |
36,776,987 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4397:Hcls1
|
UTSW |
16 |
36,757,662 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4777:Hcls1
|
UTSW |
16 |
36,775,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Hcls1
|
UTSW |
16 |
36,758,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5432:Hcls1
|
UTSW |
16 |
36,781,910 (GRCm39) |
missense |
probably benign |
|
|
R5811:Hcls1
|
UTSW |
16 |
36,777,702 (GRCm39) |
missense |
probably null |
|
|
R6601:Hcls1
|
UTSW |
16 |
36,782,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7794:Hcls1
|
UTSW |
16 |
36,782,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8040:Hcls1
|
UTSW |
16 |
36,771,511 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8439:Hcls1
|
UTSW |
16 |
36,767,003 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8688:Hcls1
|
UTSW |
16 |
36,781,821 (GRCm39) |
missense |
probably benign |
|
|
R8782:Hcls1
|
UTSW |
16 |
36,777,663 (GRCm39) |
missense |
probably benign |
|
|
R9157:Hcls1
|
UTSW |
16 |
36,777,000 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9313:Hcls1
|
UTSW |
16 |
36,777,000 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9495:Hcls1
|
UTSW |
16 |
36,777,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Hcls1
|
UTSW |
16 |
36,781,854 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2015-12-18 |
Incidental Mutation