Incidental Mutation 'R0375:Hbs1l'
| ID |
30698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hbs1l
|
| Ensembl Gene |
ENSMUSG00000019977 |
| Gene Name |
Hbs1-like (S. cerevisiae) |
| Synonyms |
eRFS, 2810035F15Rik |
| MMRRC Submission |
038581-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
21171876-21244788 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21218440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 312
(D312E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020153]
[ENSMUST00000218714]
[ENSMUST00000219915]
|
| AlphaFold |
Q69ZS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020153
AA Change: D309E
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977
AA Change: D309E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HBS1_N
|
33 |
125 |
1e-22 |
PFAM |
|
low complexity region
|
142 |
155 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
256 |
521 |
1.7e-48 |
PFAM |
|
Pfam:GTP_EFTU_D3
|
572 |
681 |
9.2e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219345
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219915
AA Change: D312E
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.7771 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
T |
A |
11: 25,719,092 (GRCm39) |
Y17F |
unknown |
Het |
| Aars2 |
A |
G |
17: 45,825,476 (GRCm39) |
D313G |
probably damaging |
Het |
| Abca9 |
A |
T |
11: 110,006,273 (GRCm39) |
D1277E |
probably benign |
Het |
| Adgrl1 |
G |
T |
8: 84,661,530 (GRCm39) |
A981S |
probably damaging |
Het |
| Aff3 |
T |
G |
1: 38,244,021 (GRCm39) |
K917Q |
possibly damaging |
Het |
| BC049715 |
A |
T |
6: 136,816,994 (GRCm39) |
H78L |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,100,401 (GRCm39) |
T4707I |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,301,880 (GRCm39) |
A2027S |
possibly damaging |
Het |
| Camk1g |
G |
A |
1: 193,038,709 (GRCm39) |
|
probably benign |
Het |
| Carf |
T |
C |
1: 60,183,161 (GRCm39) |
V386A |
probably damaging |
Het |
| Cd46 |
A |
G |
1: 194,768,472 (GRCm39) |
S82P |
probably benign |
Het |
| Clic5 |
A |
G |
17: 44,581,510 (GRCm39) |
E180G |
possibly damaging |
Het |
| Col27a1 |
A |
G |
4: 63,143,898 (GRCm39) |
T529A |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,809,305 (GRCm39) |
R2627C |
unknown |
Het |
| Cuzd1 |
G |
A |
7: 130,913,637 (GRCm39) |
|
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,944,331 (GRCm39) |
D50G |
possibly damaging |
Het |
| Dhx38 |
A |
G |
8: 110,281,813 (GRCm39) |
V735A |
possibly damaging |
Het |
| Dhx57 |
T |
G |
17: 80,565,550 (GRCm39) |
E834A |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,603,936 (GRCm39) |
D801G |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,464 (GRCm39) |
E578G |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,265 (GRCm39) |
H116L |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,517,907 (GRCm39) |
I360V |
possibly damaging |
Het |
| Fignl2 |
G |
A |
15: 100,951,974 (GRCm39) |
P103S |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,284,196 (GRCm39) |
T1006A |
probably benign |
Het |
| Ggnbp2 |
G |
T |
11: 84,727,200 (GRCm39) |
C545* |
probably null |
Het |
| Gm3336 |
A |
G |
8: 71,171,294 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,290 (GRCm39) |
N518S |
probably benign |
Het |
| Hoxd10 |
C |
A |
2: 74,523,064 (GRCm39) |
S247R |
probably benign |
Het |
| Ifnb1 |
A |
T |
4: 88,440,981 (GRCm39) |
F11I |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,969,184 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,820,930 (GRCm39) |
V879E |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,545,656 (GRCm39) |
F1291L |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,382,586 (GRCm39) |
E529G |
probably damaging |
Het |
| Npm3 |
T |
C |
19: 45,736,668 (GRCm39) |
E157G |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,218,775 (GRCm39) |
T47A |
probably damaging |
Het |
| Or4a67 |
T |
A |
2: 88,597,985 (GRCm39) |
T225S |
possibly damaging |
Het |
| Or4a68 |
G |
T |
2: 89,269,740 (GRCm39) |
N294K |
probably benign |
Het |
| Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,636,286 (GRCm39) |
V768A |
probably benign |
Het |
| Prrc1 |
A |
G |
18: 57,495,564 (GRCm39) |
T14A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,105 (GRCm39) |
L1275P |
probably damaging |
Het |
| Rnf214 |
C |
A |
9: 45,811,121 (GRCm39) |
V181F |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,286,040 (GRCm39) |
N58S |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,069 (GRCm39) |
T79I |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,295,500 (GRCm39) |
G1023S |
unknown |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,562,793 (GRCm39) |
V803A |
unknown |
Het |
| Slc25a46 |
T |
C |
18: 31,716,319 (GRCm39) |
I394M |
possibly damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,657,935 (GRCm39) |
I101K |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 99,934,906 (GRCm39) |
T704K |
probably benign |
Het |
| Tas2r144 |
T |
A |
6: 42,193,058 (GRCm39) |
M266K |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,646,842 (GRCm39) |
V61A |
possibly damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,818,746 (GRCm39) |
L783H |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,456,993 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,394 (GRCm39) |
V2050A |
probably damaging |
Het |
| Vmn1r70 |
T |
A |
7: 10,367,987 (GRCm39) |
N158K |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,013,121 (GRCm39) |
Y81N |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,726 (GRCm39) |
T173A |
probably benign |
Het |
| Ylpm1 |
T |
G |
12: 85,061,754 (GRCm39) |
S552A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,967 (GRCm39) |
Y58* |
probably null |
Het |
|
| Other mutations in Hbs1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01542:Hbs1l
|
APN |
10 |
21,183,655 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02948:Hbs1l
|
APN |
10 |
21,217,610 (GRCm39) |
splice site |
probably benign |
|
|
R0465:Hbs1l
|
UTSW |
10 |
21,227,940 (GRCm39) |
missense |
probably null |
0.85 |
|
R0555:Hbs1l
|
UTSW |
10 |
21,225,222 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0909:Hbs1l
|
UTSW |
10 |
21,183,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1172:Hbs1l
|
UTSW |
10 |
21,180,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Hbs1l
|
UTSW |
10 |
21,227,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1612:Hbs1l
|
UTSW |
10 |
21,234,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Hbs1l
|
UTSW |
10 |
21,234,305 (GRCm39) |
splice site |
probably null |
|
|
R2109:Hbs1l
|
UTSW |
10 |
21,217,831 (GRCm39) |
nonsense |
probably null |
|
|
R2369:Hbs1l
|
UTSW |
10 |
21,183,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2404:Hbs1l
|
UTSW |
10 |
21,171,946 (GRCm39) |
start gained |
probably benign |
|
|
R4077:Hbs1l
|
UTSW |
10 |
21,228,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Hbs1l
|
UTSW |
10 |
21,228,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4534:Hbs1l
|
UTSW |
10 |
21,217,814 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4796:Hbs1l
|
UTSW |
10 |
21,218,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Hbs1l
|
UTSW |
10 |
21,234,287 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5069:Hbs1l
|
UTSW |
10 |
21,230,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Hbs1l
|
UTSW |
10 |
21,217,655 (GRCm39) |
missense |
probably benign |
|
|
R6232:Hbs1l
|
UTSW |
10 |
21,183,657 (GRCm39) |
splice site |
probably null |
|
|
R6264:Hbs1l
|
UTSW |
10 |
21,243,656 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6542:Hbs1l
|
UTSW |
10 |
21,180,516 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6831:Hbs1l
|
UTSW |
10 |
21,217,767 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7295:Hbs1l
|
UTSW |
10 |
21,186,051 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7470:Hbs1l
|
UTSW |
10 |
21,234,683 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7652:Hbs1l
|
UTSW |
10 |
21,240,659 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7695:Hbs1l
|
UTSW |
10 |
21,175,116 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7909:Hbs1l
|
UTSW |
10 |
21,234,303 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8325:Hbs1l
|
UTSW |
10 |
21,183,548 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8353:Hbs1l
|
UTSW |
10 |
21,185,178 (GRCm39) |
missense |
probably benign |
|
|
R8453:Hbs1l
|
UTSW |
10 |
21,185,178 (GRCm39) |
missense |
probably benign |
|
|
R8861:Hbs1l
|
UTSW |
10 |
21,220,963 (GRCm39) |
splice site |
probably benign |
|
|
R8878:Hbs1l
|
UTSW |
10 |
21,234,711 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8880:Hbs1l
|
UTSW |
10 |
21,185,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8933:Hbs1l
|
UTSW |
10 |
21,243,584 (GRCm39) |
nonsense |
probably null |
|
|
R9462:Hbs1l
|
UTSW |
10 |
21,218,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9654:Hbs1l
|
UTSW |
10 |
21,183,604 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0018:Hbs1l
|
UTSW |
10 |
21,227,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAATGCCTCAATGTGAGCATCTG -3'
(R):5'- ATATGCCGAGGGAGCAACAACTGC -3'
Sequencing Primer
(F):5'- GCCTCAATGTGAGCATCTGAAATG -3'
(R):5'- GTCCAGCACTGCTGTCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation