Incidental Mutation 'R5139:Bnip3l'
| ID |
396365 |
| 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 |
042725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.440)
|
| Stock # |
R5139 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
67222688-67246326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67237064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 63
(S63P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022634]
[ENSMUST00000111115]
|
| AlphaFold |
Q9Z2F7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022634
AA Change: S63P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022634
Gene: ENSMUSG00000022051
AA Change: S63P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNIP3
|
13 |
217 |
3.4e-88 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111115
AA Change: S63P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106744
Gene: ENSMUSG00000022051
AA Change: S63P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNIP3
|
13 |
204 |
5.3e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129605
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151059
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,905 (GRCm39) |
L625P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,027 (GRCm39) |
S598P |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,982,019 (GRCm39) |
D1101A |
probably damaging |
Het |
| Aoah |
T |
C |
13: 21,207,407 (GRCm39) |
V542A |
possibly damaging |
Het |
| Aox1 |
T |
C |
1: 58,100,456 (GRCm39) |
S418P |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,669,112 (GRCm39) |
I354T |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,475,884 (GRCm39) |
E216G |
possibly damaging |
Het |
| Cckar |
T |
C |
5: 53,860,265 (GRCm39) |
N188S |
probably benign |
Het |
| Ccl24 |
C |
T |
5: 135,601,775 (GRCm39) |
A18T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,569 (GRCm39) |
C840R |
probably benign |
Het |
| Copa |
C |
T |
1: 171,948,896 (GRCm39) |
R1183W |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,876,024 (GRCm39) |
V2621A |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,248,061 (GRCm39) |
Y1019H |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,773,508 (GRCm39) |
Y943H |
probably damaging |
Het |
| Ighv3-8 |
T |
C |
12: 114,285,994 (GRCm39) |
Y116C |
probably damaging |
Het |
| Igkv4-70 |
G |
A |
6: 69,245,089 (GRCm39) |
T44I |
probably damaging |
Het |
| Lce3c |
G |
A |
3: 92,852,778 (GRCm39) |
G80S |
unknown |
Het |
| Ldhb |
A |
T |
6: 142,439,921 (GRCm39) |
N206K |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,354,411 (GRCm39) |
|
probably null |
Het |
| Myh2 |
T |
C |
11: 67,070,174 (GRCm39) |
L402P |
probably damaging |
Het |
| Naa15 |
T |
A |
3: 51,351,261 (GRCm39) |
L144I |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,534,384 (GRCm39) |
I2918F |
possibly damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,000 (GRCm39) |
H64Q |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pdlim7 |
A |
G |
13: 55,654,869 (GRCm39) |
S214P |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,099,773 (GRCm39) |
D49G |
probably damaging |
Het |
| Polr2f |
C |
A |
15: 79,035,858 (GRCm39) |
D106E |
possibly damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,514,610 (GRCm39) |
N766K |
probably damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,049 (GRCm39) |
D220V |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,433,203 (GRCm39) |
N341I |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,247,511 (GRCm39) |
K497E |
possibly damaging |
Het |
| Sfswap |
T |
G |
5: 129,648,073 (GRCm39) |
M927R |
possibly damaging |
Het |
| Smad9 |
T |
G |
3: 54,704,827 (GRCm39) |
W400G |
possibly damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tesmin |
A |
G |
19: 3,456,934 (GRCm39) |
I238V |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,100,133 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
A |
T |
3: 36,725,706 (GRCm39) |
M90K |
possibly damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,450 (GRCm39) |
T813I |
probably benign |
Het |
| Tub |
T |
A |
7: 108,610,309 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy3 |
A |
T |
5: 101,997,133 (GRCm39) |
|
probably null |
Het |
| Zfp853 |
T |
C |
5: 143,274,570 (GRCm39) |
Q350R |
unknown |
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 |
|
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 |
|
R9767:Bnip3l
|
UTSW |
14 |
67,246,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACGCTACAATAAACCTGGAGG -3'
(R):5'- ATCTGAACTCAAGCATGTGGG -3'
Sequencing Primer
(F):5'- AACCTGGAGGCCTATTCTGCTAATG -3'
(R):5'- ACTCAAGCATGTGGGCATCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation