Incidental Mutation 'R5811:Hcls1'
ID |
447531 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hcls1
|
Ensembl Gene |
ENSMUSG00000022831 |
Gene Name |
hematopoietic cell specific Lyn substrate 1 |
Synonyms |
HS1 |
MMRRC Submission |
043213-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.461)
|
Stock # |
R5811 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
36755345-36783574 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36777702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 274
(M274V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023531
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023531]
[ENSMUST00000164050]
|
AlphaFold |
P49710 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023531
AA Change: M274V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023531 Gene: ENSMUSG00000022831 AA Change: M274V
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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 |
Btnl1 |
A |
T |
17: 34,604,503 (GRCm39) |
K428M |
probably damaging |
Het |
Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,870,490 (GRCm39) |
V356A |
probably damaging |
Het |
Cryba4 |
C |
T |
5: 112,398,937 (GRCm39) |
V36I |
probably benign |
Het |
Dct |
A |
G |
14: 118,250,600 (GRCm39) |
V466A |
probably benign |
Het |
Dnmt3l |
A |
G |
10: 77,887,929 (GRCm39) |
D146G |
possibly damaging |
Het |
Epas1 |
A |
G |
17: 87,131,203 (GRCm39) |
N328D |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,945,936 (GRCm39) |
R1610W |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,657 (GRCm39) |
V415A |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,896,911 (GRCm39) |
L576P |
probably damaging |
Het |
Gjd3 |
A |
T |
11: 98,873,226 (GRCm39) |
V206E |
possibly damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,641 (GRCm39) |
D375E |
possibly damaging |
Het |
Gsdme |
T |
A |
6: 50,222,925 (GRCm39) |
Q130L |
probably benign |
Het |
Kcnn4 |
T |
C |
7: 24,077,030 (GRCm39) |
V193A |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,391,505 (GRCm39) |
V31A |
probably damaging |
Het |
Lamc2 |
C |
T |
1: 153,041,999 (GRCm39) |
R45Q |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,772,860 (GRCm39) |
I203F |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,182,564 (GRCm39) |
D91G |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,263,465 (GRCm39) |
|
probably benign |
Het |
Mecom |
C |
T |
3: 30,015,149 (GRCm39) |
S602N |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,352,721 (GRCm39) |
V736A |
possibly damaging |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Or2h2c |
C |
A |
17: 37,422,649 (GRCm39) |
C75F |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,269,790 (GRCm39) |
M173K |
possibly damaging |
Het |
Pih1d2 |
T |
C |
9: 50,532,374 (GRCm39) |
L144P |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,077,024 (GRCm39) |
E577K |
possibly damaging |
Het |
Samd4b |
T |
C |
7: 28,107,445 (GRCm39) |
S275G |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,822,495 (GRCm39) |
V668A |
probably benign |
Het |
Sema3c |
T |
A |
5: 17,880,188 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
C |
T |
2: 167,313,307 (GRCm39) |
R390* |
probably null |
Het |
Vmn2r89 |
A |
T |
14: 51,693,565 (GRCm39) |
N305I |
probably benign |
Het |
Wdr33 |
T |
C |
18: 32,035,673 (GRCm39) |
F1164L |
unknown |
Het |
Zfp873 |
T |
A |
10: 81,896,567 (GRCm39) |
C470S |
probably damaging |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCTCATTTATACAAGTACCATTCC -3'
(R):5'- AAGAAATGCATCTGCCCTATCTATC -3'
Sequencing Primer
(F):5'- TCTCTCCACTCAAGATCCCGG -3'
(R):5'- GCATCTGCCCTATCTATCTATCTATC -3'
|
Posted On |
2016-12-15 |