Incidental Mutation 'R9534:Bnip3l'
| ID |
719620 |
| 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 # |
R9534 (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 |
|---|
| Actn3 |
C |
A |
19: 4,913,477 (GRCm39) |
Q651H |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,980,976 (GRCm39) |
M753I |
probably benign |
Het |
| Ap1ar |
T |
C |
3: 127,602,364 (GRCm39) |
T225A |
probably damaging |
Het |
| Asic1 |
T |
G |
15: 99,594,397 (GRCm39) |
I281S |
probably benign |
Het |
| Bard1 |
C |
T |
1: 71,114,189 (GRCm39) |
C264Y |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,052,419 (GRCm39) |
T3040A |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,320,693 (GRCm39) |
H1354R |
possibly damaging |
Het |
| Cc2d2b |
G |
T |
19: 40,799,068 (GRCm39) |
E860* |
probably null |
Het |
| Cenpn |
T |
A |
8: 117,661,474 (GRCm39) |
L191* |
probably null |
Het |
| Cep68 |
T |
C |
11: 20,190,686 (GRCm39) |
R109G |
probably benign |
Het |
| Col9a1 |
T |
A |
1: 24,224,250 (GRCm39) |
V144E |
unknown |
Het |
| Coro2a |
T |
C |
4: 46,548,884 (GRCm39) |
T137A |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,807,867 (GRCm39) |
V1667A |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,155 (GRCm39) |
D1195G |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,268,072 (GRCm39) |
V2130I |
probably benign |
Het |
| Ifi214 |
A |
T |
1: 173,354,092 (GRCm39) |
S193T |
probably benign |
Het |
| Iqsec3 |
C |
A |
6: 121,367,077 (GRCm39) |
V724L |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,205,234 (GRCm39) |
S313T |
possibly damaging |
Het |
| Or1f19 |
A |
T |
16: 3,410,937 (GRCm39) |
I226F |
probably benign |
Het |
| Or4a68 |
A |
C |
2: 89,269,999 (GRCm39) |
V208G |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,121 (GRCm39) |
E124G |
probably damaging |
Het |
| Pcdh9 |
C |
T |
14: 94,123,656 (GRCm39) |
C838Y |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,108,718 (GRCm39) |
M1245V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,132,123 (GRCm39) |
Y7C |
probably benign |
Het |
| Rdx |
C |
T |
9: 51,984,482 (GRCm39) |
R330* |
probably null |
Het |
| Scaf11 |
T |
G |
15: 96,318,209 (GRCm39) |
N452H |
possibly damaging |
Het |
| Scube1 |
A |
G |
15: 83,606,102 (GRCm39) |
Y57H |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,116 (GRCm39) |
T247A |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,849,523 (GRCm39) |
M341L |
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,462,870 (GRCm39) |
M620K |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,252,759 (GRCm39) |
S182T |
probably benign |
Het |
| Tdrd6 |
G |
T |
17: 43,936,510 (GRCm39) |
L1513I |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,173,689 (GRCm39) |
Y1524* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,060,999 (GRCm39) |
N143S |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,583,096 (GRCm39) |
I591T |
possibly damaging |
Het |
| Usp21 |
A |
G |
1: 171,110,942 (GRCm39) |
S435P |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,264,312 (GRCm39) |
Y1748H |
probably damaging |
Het |
| Vmn2r54 |
C |
A |
7: 12,366,093 (GRCm39) |
K280N |
probably benign |
Het |
| Zan |
G |
T |
5: 137,407,945 (GRCm39) |
C3616* |
probably null |
Het |
| Zfp804b |
T |
C |
5: 6,819,115 (GRCm39) |
D1316G |
probably damaging |
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 |
|
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 |
|
R9767:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTCGGTCCCAACCAATG -3'
(R):5'- CTGTGTTGTCATCACATGGTC -3'
Sequencing Primer
(F):5'- AACCAATGAGCTGTCGTCTG -3'
(R):5'- TGTCATCACATGGTCCGGGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation