Incidental Mutation 'R6890:Niban3'
| ID |
537157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Niban3
|
| Ensembl Gene |
ENSMUSG00000043243 |
| Gene Name |
niban apoptosis regulator 3 |
| Synonyms |
Fam129c, Bcnp1 |
| MMRRC Submission |
044984-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72050292-72060580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72058315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 540
(V540D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125339]
[ENSMUST00000126559]
[ENSMUST00000127626]
[ENSMUST00000143662]
|
| AlphaFold |
D3YZB0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125339
AA Change: V47D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119708
Gene: ENSMUSG00000043243
AA Change: V47D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126559
|
| 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 |
probably damaging
Transcript: ENSMUST00000143662
AA Change: V540D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: V540D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
| Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
| Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
| Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
| Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
| Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
| Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
| Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
| Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
| Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
| Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
| Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
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 |
|
R2319:Niban3
|
UTSW |
8 |
72,055,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- CTGTGACACATGCTATGGCG -3'
(R):5'- TGAAAATCTCCTCCCAGCG -3'
Sequencing Primer
(F):5'- CATGCTATGGCGTGTGGG -3'
(R):5'- GAAAATCTCCTCCCAGCGTCTCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation