Incidental Mutation 'IGL00903:Hcls1'
| ID |
29132 |
| 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 # |
IGL00903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36755345-36783574 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 36776383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023531]
[ENSMUST00000164050]
|
| AlphaFold |
P49710 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023531
|
| SMART Domains |
Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
| 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 |
noncoding transcript
Transcript: ENSMUST00000163755
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsk |
A |
G |
13: 76,246,487 (GRCm39) |
|
probably null |
Het |
| As3mt |
A |
G |
19: 46,700,673 (GRCm39) |
I159V |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,606,261 (GRCm39) |
V73A |
possibly damaging |
Het |
| Ctsll3 |
C |
A |
13: 60,948,075 (GRCm39) |
V201L |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,909,211 (GRCm39) |
Y1275H |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,821,826 (GRCm39) |
R727H |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,674 (GRCm39) |
T91S |
probably benign |
Het |
| Gvin1 |
T |
C |
7: 105,757,377 (GRCm39) |
E2364G |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,911,535 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
C |
T |
17: 12,902,754 (GRCm39) |
R2432H |
possibly damaging |
Het |
| Kif27 |
C |
A |
13: 58,492,486 (GRCm39) |
V218F |
possibly damaging |
Het |
| Klhl20 |
T |
C |
1: 160,918,076 (GRCm39) |
Y70C |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lcn12 |
G |
T |
2: 25,383,332 (GRCm39) |
N15K |
possibly damaging |
Het |
| Mrgpra1 |
T |
C |
7: 46,985,326 (GRCm39) |
M118V |
probably benign |
Het |
| Nacad |
G |
T |
11: 6,550,632 (GRCm39) |
T853K |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,574,860 (GRCm39) |
Q293L |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,874,800 (GRCm39) |
V381M |
probably damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,884,828 (GRCm39) |
F37S |
possibly damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,980,175 (GRCm39) |
Y371C |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,254,516 (GRCm39) |
Y143C |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,949,343 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
T |
A |
15: 83,587,702 (GRCm39) |
H89L |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,938,315 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,682,774 (GRCm39) |
V810A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
| Zfas1 |
G |
T |
2: 166,907,406 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hcls1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01022:Hcls1
|
APN |
16 |
36,771,488 (GRCm39) |
intron |
probably benign |
|
|
IGL02838:Hcls1
|
APN |
16 |
36,782,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-04-17 |
Incidental Mutation