Incidental Mutation 'R0670:Harbi1'
| ID |
61383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Harbi1
|
| Ensembl Gene |
ENSMUSG00000027243 |
| Gene Name |
harbinger transposase derived 1 |
| Synonyms |
D230010M03Rik |
| MMRRC Submission |
038855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R0670 (G1)
|
| Quality Score |
90 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91541197-91551890 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91542880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 114
(R114W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028678]
[ENSMUST00000076803]
[ENSMUST00000090608]
[ENSMUST00000111322]
[ENSMUST00000128140]
[ENSMUST00000140183]
[ENSMUST00000142692]
|
| AlphaFold |
Q8BR93 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028678
|
| SMART Domains |
Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATG13
|
77 |
195 |
1.5e-10 |
PFAM |
|
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076803
|
| SMART Domains |
Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATG13
|
17 |
195 |
1.1e-35 |
PFAM |
|
low complexity region
|
386 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090608
AA Change: R114W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088098
Gene: ENSMUSG00000027243
AA Change: R114W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plant_tran
|
122 |
309 |
6.6e-8 |
PFAM |
|
Pfam:DDE_Tnp_4
|
148 |
300 |
1.7e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111322
AA Change: R114W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106954
Gene: ENSMUSG00000027243
AA Change: R114W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DDE_Tnp_4
|
148 |
226 |
1.5e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128140
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140183
AA Change: R114W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142692
AA Change: R114W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121420
Gene: ENSMUSG00000027243
AA Change: R114W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DDE_Tnp_4
|
148 |
234 |
1.1e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
| Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
| Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
| Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
| Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
| Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
| H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
| Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
| Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
| Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
probably damaging |
Het |
|
| Other mutations in Harbi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00474:Harbi1
|
APN |
2 |
91,542,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0673:Harbi1
|
UTSW |
2 |
91,542,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3788:Harbi1
|
UTSW |
2 |
91,550,952 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4296:Harbi1
|
UTSW |
2 |
91,543,100 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6545:Harbi1
|
UTSW |
2 |
91,542,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7207:Harbi1
|
UTSW |
2 |
91,542,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7324:Harbi1
|
UTSW |
2 |
91,551,044 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7728:Harbi1
|
UTSW |
2 |
91,542,626 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8218:Harbi1
|
UTSW |
2 |
91,543,237 (GRCm39) |
missense |
probably benign |
|
|
R9095:Harbi1
|
UTSW |
2 |
91,542,980 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9244:Harbi1
|
UTSW |
2 |
91,543,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Harbi1
|
UTSW |
2 |
91,542,698 (GRCm39) |
nonsense |
probably null |
|
|
R9604:Harbi1
|
UTSW |
2 |
91,542,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGACCTCCACATTAGCAATGGC -3'
(R):5'- CAGGCAGTTTAGAGAATGCAGACCC -3'
Sequencing Primer
(F):5'- GTGACTGACGAATACTTGATGTCC -3'
(R):5'- TTAGAGAATGCAGACCCTTTCGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation