Incidental Mutation 'R6601:Hcls1'
| ID |
525297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hcls1
|
| Ensembl Gene |
ENSMUSG00000022831 |
| Gene Name |
hematopoietic cell specific Lyn substrate 1 |
| Synonyms |
HS1 |
| MMRRC Submission |
044725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
R6601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36755345-36783574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36782748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 428
(G428D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023531]
[ENSMUST00000075869]
[ENSMUST00000114806]
[ENSMUST00000164050]
|
| AlphaFold |
P49710 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023531
AA Change: G428D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: G428D
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,102,665 (GRCm39) |
L527R |
probably damaging |
Het |
| Ccdc172 |
T |
A |
19: 58,525,723 (GRCm39) |
C194S |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
T |
14: 51,031,121 (GRCm39) |
T64K |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,806,109 (GRCm39) |
E44G |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,543,421 (GRCm39) |
Y317* |
probably null |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,829 (GRCm39) |
F281S |
probably damaging |
Het |
| Ddx28 |
A |
T |
8: 106,737,248 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,721 (GRCm39) |
|
probably null |
Het |
| Eif2s1 |
T |
C |
12: 78,930,126 (GRCm39) |
I258T |
possibly damaging |
Het |
| Elp3 |
T |
C |
14: 65,784,488 (GRCm39) |
*554W |
probably null |
Het |
| Golga1 |
T |
C |
2: 38,910,118 (GRCm39) |
M610V |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,935,906 (GRCm39) |
K156N |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,371,677 (GRCm39) |
D43G |
probably damaging |
Het |
| Klhl3 |
C |
A |
13: 58,242,930 (GRCm39) |
K91N |
probably damaging |
Het |
| L3mbtl1 |
C |
T |
2: 162,790,095 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,810,544 (GRCm39) |
F805L |
possibly damaging |
Het |
| Lipg |
T |
C |
18: 75,081,275 (GRCm39) |
M269V |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,148,720 (GRCm39) |
T1203I |
probably benign |
Het |
| Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,548,866 (GRCm39) |
L5809Q |
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,420,266 (GRCm39) |
R1335C |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,416 (GRCm39) |
H128R |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,587,464 (GRCm39) |
|
probably null |
Het |
| Or8u8 |
T |
A |
2: 86,012,309 (GRCm39) |
I49F |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,230,673 (GRCm39) |
V148A |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,747 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
G |
19: 17,488,744 (GRCm39) |
R1025S |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
| Polr1d |
T |
A |
5: 147,015,359 (GRCm39) |
L14* |
probably null |
Het |
| Rab26 |
T |
A |
17: 24,748,595 (GRCm39) |
K270* |
probably null |
Het |
| Rasgef1c |
T |
A |
11: 49,862,246 (GRCm39) |
N378K |
probably damaging |
Het |
| Rpl7a |
T |
C |
2: 26,801,536 (GRCm39) |
V76A |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,377,229 (GRCm39) |
I11F |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,631,777 (GRCm39) |
Q531K |
probably benign |
Het |
| Styxl1 |
C |
G |
5: 135,784,350 (GRCm39) |
G211A |
probably benign |
Het |
| Taar9 |
T |
C |
10: 23,984,945 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tmem198 |
T |
A |
1: 75,457,017 (GRCm39) |
F48I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,595,073 (GRCm39) |
N12032I |
probably damaging |
Het |
| Ubr7 |
T |
A |
12: 102,727,723 (GRCm39) |
C82S |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,483,159 (GRCm39) |
E48G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,960,819 (GRCm39) |
V470A |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,816,181 (GRCm39) |
Q424K |
possibly damaging |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,802,761 (GRCm39) |
T13A |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATGAGGATGTGCTGGAGC -3'
(R):5'- TCAGATGGGAATTCCTCTGTGC -3'
Sequencing Primer
(F):5'- ATGTGCTGGAGCCCGAG -3'
(R):5'- GTGCCCTCTCTAAGCCTTAGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation