Incidental Mutation 'R9639:Bnip3l'
| ID |
725885 |
| 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 # |
R9639 (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: 99.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,893,345 (GRCm39) |
D1265G |
probably benign |
Het |
| Baz2b |
T |
A |
2: 59,731,828 (GRCm39) |
N2070I |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,760,840 (GRCm39) |
E2195V |
probably null |
Het |
| Cracd |
T |
C |
5: 77,005,997 (GRCm39) |
V786A |
unknown |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Ddx11 |
A |
G |
17: 66,437,012 (GRCm39) |
D102G |
|
Het |
| Egf |
T |
C |
3: 129,513,949 (GRCm39) |
T421A |
possibly damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,316,107 (GRCm39) |
V365A |
|
Het |
| Gmps |
T |
A |
3: 63,922,938 (GRCm39) |
S634T |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lyplal1 |
A |
T |
1: 185,849,409 (GRCm39) |
C13* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,433,817 (GRCm39) |
W2255R |
probably damaging |
Het |
| Myo5c |
C |
A |
9: 75,165,477 (GRCm39) |
H428Q |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,333,948 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Or2bd2 |
A |
T |
7: 6,443,290 (GRCm39) |
R130S |
probably benign |
Het |
| Pcdh12 |
C |
T |
18: 38,402,032 (GRCm39) |
M1123I |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,146,172 (GRCm39) |
S393P |
probably benign |
Het |
| Pgr |
A |
T |
9: 8,900,994 (GRCm39) |
S176C |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,022,713 (GRCm39) |
N312S |
probably benign |
Het |
| Qrich2 |
G |
A |
11: 116,346,924 (GRCm39) |
P1300L |
probably benign |
Het |
| Sap130 |
T |
C |
18: 31,844,789 (GRCm39) |
|
probably null |
Het |
| Slc15a3 |
T |
A |
19: 10,820,717 (GRCm39) |
Y111* |
probably null |
Het |
| Slc26a9 |
A |
G |
1: 131,678,409 (GRCm39) |
E25G |
probably damaging |
Het |
| Slc2a3 |
A |
G |
6: 122,714,199 (GRCm39) |
F110L |
probably benign |
Het |
| Spesp1 |
A |
T |
9: 62,180,238 (GRCm39) |
D223E |
possibly damaging |
Het |
| St18 |
T |
C |
1: 6,929,246 (GRCm39) |
I46T |
|
Het |
| Trmt6 |
T |
A |
2: 132,650,862 (GRCm39) |
K249* |
probably null |
Het |
| Ttll10 |
A |
T |
4: 156,119,503 (GRCm39) |
I632K |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,518 (GRCm39) |
N67S |
probably benign |
Het |
| Vmn1r28 |
C |
T |
6: 58,242,996 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r38 |
T |
G |
7: 9,078,063 (GRCm39) |
D773A |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ywhae |
G |
A |
11: 75,650,248 (GRCm39) |
G237S |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,714 (GRCm39) |
E666G |
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 |
|
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 |
|
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'- ATCTCGGTCCCAACCAATGAG -3'
(R):5'- GCCTGTGTTGTCATCACATG -3'
Sequencing Primer
(F):5'- AACCAATGAGCTGTCGTCTG -3'
(R):5'- TGTCATCACATGGTCCGGGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation