Incidental Mutation 'R9676:Niban2'
| ID |
728325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Niban2
|
| Ensembl Gene |
ENSMUSG00000026796 |
| Gene Name |
niban apoptosis regulator 2 |
| Synonyms |
9130404D14Rik, Fam129b |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R9676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32766146-32815265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32802581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 191
(V191I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028135]
[ENSMUST00000138781]
|
| AlphaFold |
Q8R1F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028135
AA Change: V191I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: V191I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
69 |
194 |
1.81e-2 |
SMART |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138781
|
| SMART Domains |
Protein: ENSMUSP00000114232
Gene: ENSMUSG00000026796
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
53 |
83 |
2e-15 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,207,905 (GRCm39) |
S534P |
possibly damaging |
Het |
| Abcb1a |
A |
T |
5: 8,714,548 (GRCm39) |
K23I |
possibly damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,625,501 (GRCm39) |
G961E |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,769,122 (GRCm39) |
D644G |
probably benign |
Het |
| Ciart |
A |
G |
3: 95,786,214 (GRCm39) |
V287A |
probably benign |
Het |
| Cldn10 |
G |
T |
14: 119,025,677 (GRCm39) |
V37L |
probably damaging |
Het |
| Clec16a |
C |
A |
16: 10,559,823 (GRCm39) |
T1032K |
probably benign |
Het |
| Crhbp |
A |
T |
13: 95,578,711 (GRCm39) |
Y144N |
probably damaging |
Het |
| Ddn |
A |
T |
15: 98,703,252 (GRCm39) |
I680N |
possibly damaging |
Het |
| Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
CCGGTG |
CCGGTGACGGTG |
12: 40,894,401 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
GGTGCC |
GGTGCCTGTGCC |
12: 40,894,397 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
TGCCGG |
TGCCGGGGCCGG |
12: 40,894,387 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,904,922 (GRCm39) |
Y651C |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,079,743 (GRCm39) |
F457I |
probably damaging |
Het |
| Eif4h |
G |
A |
5: 134,668,242 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
C |
4: 88,273,682 (GRCm39) |
V1073A |
unknown |
Het |
| Gm9195 |
G |
A |
14: 72,709,667 (GRCm39) |
P482S |
unknown |
Het |
| Ifi206 |
G |
A |
1: 173,308,718 (GRCm39) |
T426I |
|
Het |
| Irag2 |
T |
G |
6: 145,120,338 (GRCm39) |
W518G |
probably damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lpar3 |
T |
C |
3: 145,990,434 (GRCm39) |
C251R |
probably damaging |
Het |
| Lrrn4cl |
A |
G |
19: 8,829,496 (GRCm39) |
D158G |
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,892,231 (GRCm39) |
N1632K |
probably benign |
Het |
| Neb |
T |
C |
2: 52,060,558 (GRCm39) |
K6275E |
possibly damaging |
Het |
| Or1j10 |
A |
G |
2: 36,266,848 (GRCm39) |
E20G |
probably benign |
Het |
| Or2t47 |
T |
A |
11: 58,442,253 (GRCm39) |
M271L |
probably benign |
Het |
| Or4a70 |
A |
T |
2: 89,323,780 (GRCm39) |
M292K |
probably damaging |
Het |
| Phactr3 |
G |
T |
2: 177,925,837 (GRCm39) |
E371* |
probably null |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
T |
C |
10: 13,003,955 (GRCm39) |
Y408H |
unknown |
Het |
| Pole |
A |
G |
5: 110,443,431 (GRCm39) |
Q385R |
probably benign |
Het |
| Rps15a |
A |
T |
7: 117,714,361 (GRCm39) |
V35D |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,282,860 (GRCm39) |
P505S |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,781 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
G |
T |
7: 96,544,638 (GRCm39) |
R2255L |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 79,060,384 (GRCm39) |
T435A |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,452 (GRCm39) |
V611A |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,721,823 (GRCm39) |
V256A |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,330,959 (GRCm39) |
K420R |
probably benign |
Het |
|
| Other mutations in Niban2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Niban2
|
APN |
2 |
32,802,483 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01072:Niban2
|
APN |
2 |
32,802,427 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01874:Niban2
|
APN |
2 |
32,795,779 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02302:Niban2
|
APN |
2 |
32,811,135 (GRCm39) |
missense |
probably benign |
|
|
IGL02681:Niban2
|
APN |
2 |
32,801,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03126:Niban2
|
APN |
2 |
32,766,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03240:Niban2
|
APN |
2 |
32,812,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0125:Niban2
|
UTSW |
2 |
32,813,833 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0948:Niban2
|
UTSW |
2 |
32,812,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
|
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
|
R1195:Niban2
|
UTSW |
2 |
32,809,815 (GRCm39) |
missense |
probably benign |
|
|
R2130:Niban2
|
UTSW |
2 |
32,813,659 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2408:Niban2
|
UTSW |
2 |
32,813,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Niban2
|
UTSW |
2 |
32,812,590 (GRCm39) |
nonsense |
probably null |
|
|
R5506:Niban2
|
UTSW |
2 |
32,810,994 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5748:Niban2
|
UTSW |
2 |
32,809,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Niban2
|
UTSW |
2 |
32,799,920 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6011:Niban2
|
UTSW |
2 |
32,812,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6088:Niban2
|
UTSW |
2 |
32,813,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6720:Niban2
|
UTSW |
2 |
32,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6763:Niban2
|
UTSW |
2 |
32,801,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6769:Niban2
|
UTSW |
2 |
32,785,666 (GRCm39) |
|
|
|
|
R7296:Niban2
|
UTSW |
2 |
32,812,654 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7769:Niban2
|
UTSW |
2 |
32,809,844 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7888:Niban2
|
UTSW |
2 |
32,812,137 (GRCm39) |
nonsense |
probably null |
|
|
R8282:Niban2
|
UTSW |
2 |
32,809,029 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8685:Niban2
|
UTSW |
2 |
32,809,101 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8729:Niban2
|
UTSW |
2 |
32,799,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Niban2
|
UTSW |
2 |
32,811,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8916:Niban2
|
UTSW |
2 |
32,811,106 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9772:Niban2
|
UTSW |
2 |
32,795,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTTCACATCTCTCTACAGG -3'
(R):5'- AGTCACAGCGTTCTGAGAACAG -3'
Sequencing Primer
(F):5'- TCTCTCTACAGGGACCACATCG -3'
(R):5'- CACAGCGTTCTGAGAACAGTTTTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation