Incidental Mutation 'R9537:Bnip3l'
| ID |
719754 |
| 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: 0.440)
|
| Stock # |
R9537 (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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| Adgra3 |
A |
G |
5: 50,118,207 (GRCm39) |
Y1114H |
possibly damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,358 (GRCm39) |
Y82H |
probably damaging |
Het |
| Bcl2a1d |
T |
G |
9: 88,613,526 (GRCm39) |
I83L |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Bglap3 |
T |
C |
3: 88,276,139 (GRCm39) |
D71G |
probably benign |
Het |
| Chmp2b |
T |
C |
16: 65,347,932 (GRCm39) |
K15E |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,927,462 (GRCm39) |
W525R |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,784,420 (GRCm39) |
K143* |
probably null |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dnai1 |
A |
G |
4: 41,629,790 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,344,740 (GRCm39) |
G2028D |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,199,292 (GRCm39) |
R773Q |
probably damaging |
Het |
| Ffar1 |
T |
C |
7: 30,560,025 (GRCm39) |
T291A |
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,178,313 (GRCm39) |
|
probably benign |
Het |
| Hapln2 |
T |
A |
3: 87,931,780 (GRCm39) |
|
probably null |
Het |
| Ing1 |
T |
C |
8: 11,611,889 (GRCm39) |
L203P |
probably benign |
Het |
| Litafd |
G |
T |
16: 8,501,177 (GRCm39) |
C11F |
|
Het |
| Mab21l4 |
T |
C |
1: 93,080,884 (GRCm39) |
K341E |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,062,586 (GRCm39) |
T171A |
possibly damaging |
Het |
| Mib2 |
A |
T |
4: 155,741,952 (GRCm39) |
L387H |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 103,019,758 (GRCm39) |
N494S |
probably benign |
Het |
| Myof |
A |
G |
19: 37,896,054 (GRCm39) |
L1847P |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,465,162 (GRCm39) |
V270D |
|
Het |
| Nup160 |
T |
C |
2: 90,560,088 (GRCm39) |
L1271S |
possibly damaging |
Het |
| Osgep |
A |
T |
14: 51,162,119 (GRCm39) |
|
probably null |
Het |
| Ptgfr |
G |
T |
3: 151,541,445 (GRCm39) |
T21N |
possibly damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,120,739 (GRCm39) |
S23P |
unknown |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,755,671 (GRCm39) |
S65P |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,601,885 (GRCm39) |
Y1459C |
unknown |
Het |
| Spen |
A |
G |
4: 141,199,015 (GRCm39) |
V3204A |
probably benign |
Het |
| Spen |
TTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTG |
4: 141,244,156 (GRCm39) |
|
probably benign |
Het |
| Timm44 |
G |
A |
8: 4,310,576 (GRCm39) |
T392I |
possibly damaging |
Het |
| Tnc |
A |
T |
4: 63,884,821 (GRCm39) |
I1818N |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,803,616 (GRCm39) |
|
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,857,347 (GRCm39) |
Y231C |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,525,245 (GRCm39) |
R23G |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,935,117 (GRCm39) |
Y10C |
probably benign |
Het |
| Vmn2r107 |
C |
A |
17: 20,595,149 (GRCm39) |
S567R |
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,826,512 (GRCm39) |
Y831H |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,108,596 (GRCm39) |
T355S |
|
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 |
|
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 |
|
R9767:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTCGGTCCCAACCAATG -3'
(R):5'- CTGTGTTGTCATCACATGGTCC -3'
Sequencing Primer
(F):5'- AACCAATGAGCTGTCGTCTG -3'
(R):5'- TGTCATCACATGGTCCGGGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation