Incidental Mutation 'R9591:Bnip3l'
| ID |
723013 |
| 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 # |
R9591 (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: 98.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,488 (GRCm39) |
I486N |
probably damaging |
Het |
| Ablim3 |
T |
C |
18: 61,954,984 (GRCm39) |
Y335C |
probably benign |
Het |
| Adam24 |
C |
A |
8: 41,132,698 (GRCm39) |
D55E |
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,320,250 (GRCm39) |
*164Q |
probably null |
Het |
| Arhgap25 |
T |
C |
6: 87,440,102 (GRCm39) |
N515S |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,736,222 (GRCm39) |
D297G |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,957,929 (GRCm39) |
M584K |
probably benign |
Het |
| C9orf72 |
C |
T |
4: 35,218,557 (GRCm39) |
G101R |
|
Het |
| Ccdc116 |
T |
C |
16: 16,960,598 (GRCm39) |
D73G |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,011,296 (GRCm39) |
V296A |
probably benign |
Het |
| Cldn19 |
A |
G |
4: 119,114,357 (GRCm39) |
T133A |
probably benign |
Het |
| Crygn |
G |
T |
5: 24,961,073 (GRCm39) |
H78N |
probably damaging |
Het |
| Dhrs11 |
T |
G |
11: 84,719,584 (GRCm39) |
N47T |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,288,336 (GRCm39) |
S396G |
probably benign |
Het |
| Gm3667 |
T |
C |
14: 18,270,388 (GRCm39) |
Y139C |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,019,640 (GRCm39) |
N2137S |
probably damaging |
Het |
| Iapp |
T |
A |
6: 142,249,063 (GRCm39) |
C39S |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,265,969 (GRCm39) |
E749G |
probably benign |
Het |
| Lpcat1 |
T |
G |
13: 73,659,471 (GRCm39) |
V411G |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,454,795 (GRCm39) |
E1398D |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,516 (GRCm39) |
T1821A |
unknown |
Het |
| Neu1 |
T |
C |
17: 35,150,474 (GRCm39) |
L31P |
probably benign |
Het |
| Nfam1 |
T |
C |
15: 82,900,581 (GRCm39) |
T94A |
possibly damaging |
Het |
| Nlrc5 |
T |
G |
8: 95,249,309 (GRCm39) |
S1752R |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,378,926 (GRCm39) |
E242V |
probably damaging |
Het |
| Or51b6 |
A |
T |
7: 103,556,470 (GRCm39) |
I272F |
|
Het |
| Peak1 |
C |
A |
9: 56,166,834 (GRCm39) |
V365F |
possibly damaging |
Het |
| Rgl2 |
C |
T |
17: 34,151,451 (GRCm39) |
T165I |
possibly damaging |
Het |
| Rnpepl1 |
T |
C |
1: 92,847,309 (GRCm39) |
L632P |
probably damaging |
Het |
| Sec1 |
G |
A |
7: 45,328,102 (GRCm39) |
T315M |
|
Het |
| Sipa1l2 |
A |
T |
8: 126,219,112 (GRCm39) |
M75K |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,701,828 (GRCm39) |
H1055Y |
probably damaging |
Het |
| Sprr2a3 |
T |
A |
3: 92,195,961 (GRCm39) |
C23S |
unknown |
Het |
| Tbck |
T |
A |
3: 132,400,195 (GRCm39) |
L82Q |
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,567,897 (GRCm39) |
V277I |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,031,921 (GRCm39) |
E565V |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,315,737 (GRCm39) |
D230E |
|
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 |
|
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'- TCTCGGTCCCAACCAATGAG -3'
(R):5'- GCCTGTGTTGTCATCACATGG -3'
Sequencing Primer
(F):5'- AACCAATGAGCTGTCGTCTG -3'
(R):5'- TGTCATCACATGGTCCGGGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation