Incidental Mutation 'R2319:Niban3'
| ID |
245585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Niban3
|
| Ensembl Gene |
ENSMUSG00000043243 |
| Gene Name |
niban apoptosis regulator 3 |
| Synonyms |
Fam129c, Bcnp1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2319 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72050292-72060580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72055408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 273
(F273L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125339]
[ENSMUST00000126559]
[ENSMUST00000127626]
[ENSMUST00000143662]
|
| AlphaFold |
D3YZB0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125339
|
| SMART Domains |
Protein: ENSMUSP00000119708
Gene: ENSMUSG00000043243
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125525
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127626
|
| SMART Domains |
Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glucosamine_iso
|
18 |
214 |
7.2e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132891
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143662
AA Change: F273L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: F273L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
PH
|
68 |
196 |
4.94e-4 |
SMART |
|
low complexity region
|
218 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141594
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,897,505 (GRCm39) |
H273Q |
probably damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,785,999 (GRCm39) |
S679P |
possibly damaging |
Het |
| Chac2 |
T |
A |
11: 30,936,252 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,417 (GRCm39) |
T532A |
unknown |
Het |
| Dsg1c |
A |
T |
18: 20,408,235 (GRCm39) |
Y428F |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Gm7489 |
A |
T |
15: 53,748,445 (GRCm39) |
|
probably benign |
Het |
| Gnat3 |
T |
G |
5: 18,224,624 (GRCm39) |
D341E |
probably benign |
Het |
| Lrpprc |
G |
A |
17: 85,033,818 (GRCm39) |
P1020S |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,319 (GRCm39) |
S309G |
probably benign |
Het |
| Pik3cg |
T |
C |
12: 32,226,735 (GRCm39) |
I1051V |
probably damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Rmnd1 |
A |
G |
10: 4,372,099 (GRCm39) |
V200A |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,799,479 (GRCm39) |
N1076S |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,657,154 (GRCm39) |
D436G |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,006,222 (GRCm39) |
|
probably null |
Het |
| Srsf3 |
G |
A |
17: 29,257,520 (GRCm39) |
R88Q |
unknown |
Het |
| Stxbp2 |
T |
C |
8: 3,683,834 (GRCm39) |
I90T |
possibly damaging |
Het |
| Tnr |
T |
A |
1: 159,677,618 (GRCm39) |
M1K |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,491,200 (GRCm39) |
S119L |
probably damaging |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,083 (GRCm39) |
M1V |
probably null |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Niban3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Niban3
|
APN |
8 |
72,057,507 (GRCm39) |
splice site |
probably benign |
|
|
IGL01530:Niban3
|
APN |
8 |
72,056,561 (GRCm39) |
splice site |
probably benign |
|
|
IGL01553:Niban3
|
APN |
8 |
72,055,546 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02313:Niban3
|
APN |
8 |
72,055,504 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02341:Niban3
|
APN |
8 |
72,056,443 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02541:Niban3
|
APN |
8 |
72,055,426 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02745:Niban3
|
APN |
8 |
72,057,682 (GRCm39) |
splice site |
probably null |
|
|
R0006:Niban3
|
UTSW |
8 |
72,057,688 (GRCm39) |
splice site |
probably benign |
|
|
R0391:Niban3
|
UTSW |
8 |
72,055,143 (GRCm39) |
splice site |
probably benign |
|
|
R0594:Niban3
|
UTSW |
8 |
72,051,779 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1208:Niban3
|
UTSW |
8 |
72,053,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1208:Niban3
|
UTSW |
8 |
72,053,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1643:Niban3
|
UTSW |
8 |
72,052,808 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1848:Niban3
|
UTSW |
8 |
72,056,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1986:Niban3
|
UTSW |
8 |
72,056,404 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4386:Niban3
|
UTSW |
8 |
72,060,155 (GRCm39) |
intron |
probably benign |
|
|
R4564:Niban3
|
UTSW |
8 |
72,057,704 (GRCm39) |
intron |
probably benign |
|
|
R4666:Niban3
|
UTSW |
8 |
72,056,469 (GRCm39) |
nonsense |
probably null |
|
|
R6341:Niban3
|
UTSW |
8 |
72,052,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Niban3
|
UTSW |
8 |
72,051,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6888:Niban3
|
UTSW |
8 |
72,056,383 (GRCm39) |
missense |
probably benign |
|
|
R6890:Niban3
|
UTSW |
8 |
72,058,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Niban3
|
UTSW |
8 |
72,056,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7441:Niban3
|
UTSW |
8 |
72,052,808 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7459:Niban3
|
UTSW |
8 |
72,057,671 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7527:Niban3
|
UTSW |
8 |
72,059,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Niban3
|
UTSW |
8 |
72,054,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Niban3
|
UTSW |
8 |
72,060,159 (GRCm39) |
missense |
unknown |
|
|
R8936:Niban3
|
UTSW |
8 |
72,060,307 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9272:Niban3
|
UTSW |
8 |
72,055,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTGGGCCTTCAGTCCTG -3'
(R):5'- TTAATAAACATGTCCCTCGGCCC -3'
Sequencing Primer
(F):5'- TGCTGCTCTATCGACGACG -3'
(R):5'- TCAGGGGATTCCTAGCTCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation