Incidental Mutation 'R9767:Bnip3l'
ID |
733346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bnip3l
|
Ensembl Gene |
ENSMUSG00000022051 |
Gene Name |
BCL2/adenovirus E1B interacting protein 3-like |
Synonyms |
Nip3L, D14Ertd719e, Nix |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.435)
|
Stock # |
R9767 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
67222688-67246326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 67246214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 7
(P7L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022634
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022634]
[ENSMUST00000111115]
|
AlphaFold |
Q9Z2F7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022634
AA Change: P7L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022634 Gene: ENSMUSG00000022051 AA Change: P7L
Domain | Start | End | E-Value | Type |
Pfam:BNIP3
|
13 |
217 |
3.4e-88 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111115
AA Change: P7L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106744 Gene: ENSMUSG00000022051 AA Change: P7L
Domain | Start | End | E-Value | Type |
Pfam:BNIP3
|
13 |
204 |
5.3e-80 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal morphology, decreased numbers and increased fragility of reticulocyte and erythcrocyte. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
A |
T |
3: 151,207,394 (GRCm39) |
M314L |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,823,799 (GRCm39) |
S41P |
probably damaging |
Het |
Aox4 |
A |
C |
1: 58,274,357 (GRCm39) |
N381T |
probably benign |
Het |
Bpifb6 |
G |
A |
2: 153,751,148 (GRCm39) |
|
probably null |
Het |
Cep350 |
A |
G |
1: 155,739,018 (GRCm39) |
V2275A |
probably benign |
Het |
Cntn4 |
G |
A |
6: 106,655,395 (GRCm39) |
G831E |
probably benign |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Dchs2 |
A |
G |
3: 83,212,206 (GRCm39) |
I2002V |
probably benign |
Het |
Dennd2a |
G |
A |
6: 39,483,709 (GRCm39) |
R384C |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,342,796 (GRCm39) |
T136A |
possibly damaging |
Het |
Eif2s2 |
A |
T |
2: 154,730,125 (GRCm39) |
D57E |
probably benign |
Het |
Eml2 |
C |
T |
7: 18,920,083 (GRCm39) |
T129I |
probably benign |
Het |
Flad1 |
A |
C |
3: 89,310,718 (GRCm39) |
I443S |
probably benign |
Het |
Glis1 |
A |
T |
4: 107,491,794 (GRCm39) |
T741S |
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,818,297 (GRCm39) |
Y331C |
probably damaging |
Het |
Lrwd1 |
C |
T |
5: 136,162,856 (GRCm39) |
V122M |
possibly damaging |
Het |
Ndufs2 |
G |
T |
1: 171,068,643 (GRCm39) |
P89Q |
probably damaging |
Het |
Nkx1-2 |
C |
T |
7: 132,199,402 (GRCm39) |
V120I |
probably benign |
Het |
Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
Or7a41 |
T |
C |
10: 78,870,765 (GRCm39) |
L45P |
possibly damaging |
Het |
Pcdhga3 |
T |
A |
18: 37,808,096 (GRCm39) |
I183N |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,484,636 (GRCm39) |
D1973G |
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,718,101 (GRCm39) |
S938P |
probably benign |
Het |
Prss27 |
G |
T |
17: 24,257,283 (GRCm39) |
M1I |
probably null |
Het |
Rai14 |
T |
C |
15: 10,610,127 (GRCm39) |
T74A |
probably benign |
Het |
Rcc2 |
C |
T |
4: 140,435,331 (GRCm39) |
R117W |
probably damaging |
Het |
Rpl31 |
T |
A |
1: 39,410,189 (GRCm39) |
*130R |
probably null |
Het |
Rplp0 |
T |
C |
5: 115,699,563 (GRCm39) |
S213P |
probably benign |
Het |
Sdcbp2 |
T |
C |
2: 151,429,057 (GRCm39) |
I152T |
probably damaging |
Het |
Senp3 |
T |
C |
11: 69,569,013 (GRCm39) |
T383A |
possibly damaging |
Het |
Sod2 |
C |
A |
17: 13,227,180 (GRCm39) |
Q45K |
probably benign |
Het |
Speg |
A |
T |
1: 75,403,825 (GRCm39) |
I2669F |
possibly damaging |
Het |
Stat4 |
T |
G |
1: 52,141,653 (GRCm39) |
F577V |
probably damaging |
Het |
Tex9 |
C |
A |
9: 72,368,518 (GRCm39) |
E377* |
probably null |
Het |
Tmprss15 |
A |
T |
16: 78,875,977 (GRCm39) |
V119D |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,079,234 (GRCm39) |
S1800P |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,212,274 (GRCm39) |
D96G |
probably damaging |
Het |
Vmn2r51 |
G |
T |
7: 9,839,407 (GRCm39) |
N60K |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,910,403 (GRCm39) |
D3389G |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,879,306 (GRCm39) |
E1506K |
|
Het |
Zfp1 |
A |
G |
8: 112,396,203 (GRCm39) |
N75D |
probably benign |
Het |
|
Other mutations in Bnip3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R2070:Bnip3l
|
UTSW |
14 |
67,226,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R4062:Bnip3l
|
UTSW |
14 |
67,246,187 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4828:Bnip3l
|
UTSW |
14 |
67,246,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R5068:Bnip3l
|
UTSW |
14 |
67,237,081 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5139:Bnip3l
|
UTSW |
14 |
67,237,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Bnip3l
|
UTSW |
14 |
67,225,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R6995:Bnip3l
|
UTSW |
14 |
67,237,101 (GRCm39) |
missense |
probably benign |
0.33 |
R8050:Bnip3l
|
UTSW |
14 |
67,226,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R9503:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9504:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9532:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9534:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9537:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9540:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9590:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9591:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9592:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9593:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9638:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9639:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9669:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9670:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9672:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9734:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9735:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9737:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9738:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9740:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCTCGGTCCCAACCAATGAG -3'
(R):5'- GCCTGTGTTGTCATCACATGG -3'
Sequencing Primer
(F):5'- AACCAATGAGCTGTCGTCTG -3'
(R):5'- TGTCATCACATGGTCCGGGAG -3'
|
Posted On |
2022-11-14 |