Incidental Mutation 'R4328:Niban1'
| ID |
324451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Niban1
|
| Ensembl Gene |
ENSMUSG00000026483 |
| Gene Name |
niban apoptosis regulator 1 |
| Synonyms |
Fam129a, Niban |
| MMRRC Submission |
041098-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151447124-151596791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151512169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 24
(S24P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097541]
[ENSMUST00000111875]
[ENSMUST00000134499]
[ENSMUST00000148810]
|
| AlphaFold |
Q3UW53 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097541
AA Change: S24P
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: S24P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
2e-83 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111875
AA Change: S24P
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107506
Gene: ENSMUSG00000026483
AA Change: S24P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
6e-86 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134499
AA Change: S24P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000115692
Gene: ENSMUSG00000026483
AA Change: S24P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1faoa_
|
67 |
114 |
5e-3 |
SMART |
|
Blast:PH
|
70 |
114 |
3e-23 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148810
AA Change: S24P
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: S24P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1faoa_
|
67 |
118 |
1e-2 |
SMART |
|
Blast:PH
|
70 |
197 |
1e-80 |
BLAST |
|
low complexity region
|
540 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
797 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
T |
C |
9: 63,306,238 (GRCm39) |
K89R |
probably damaging |
Het |
| Aadacl4fm2 |
T |
A |
4: 144,282,164 (GRCm39) |
K209N |
possibly damaging |
Het |
| Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,356,054 (GRCm39) |
I4V |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,720,961 (GRCm39) |
T688K |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,375,104 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,607,671 (GRCm39) |
T386S |
possibly damaging |
Het |
| Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
| Crym |
C |
T |
7: 119,794,562 (GRCm39) |
G219E |
probably damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,458,878 (GRCm39) |
I776F |
probably damaging |
Het |
| Eif1ad16 |
T |
A |
12: 87,985,285 (GRCm39) |
D86V |
possibly damaging |
Het |
| Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
| Gm3336 |
C |
T |
8: 71,173,234 (GRCm39) |
T82I |
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,517,079 (GRCm39) |
S425R |
possibly damaging |
Het |
| Gpn2 |
T |
C |
4: 133,315,919 (GRCm39) |
V203A |
probably benign |
Het |
| Gskip |
T |
C |
12: 105,666,960 (GRCm39) |
Y113H |
probably damaging |
Het |
| Hcn2 |
T |
C |
10: 79,560,445 (GRCm39) |
Y259H |
probably damaging |
Het |
| Hira |
C |
A |
16: 18,715,362 (GRCm39) |
Q87K |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kirrel1 |
T |
C |
3: 86,992,081 (GRCm39) |
|
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
| Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
| Ly6e |
C |
A |
15: 74,830,370 (GRCm39) |
N73K |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
| Med24 |
A |
G |
11: 98,597,942 (GRCm39) |
|
probably null |
Het |
| Nup210l |
C |
A |
3: 90,083,142 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
| Or5w12 |
C |
A |
2: 87,502,008 (GRCm39) |
R234S |
possibly damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
| Or8d1 |
T |
C |
9: 38,767,132 (GRCm39) |
M258T |
possibly damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
| Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
| Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,331,663 (GRCm39) |
F140S |
possibly damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,515,540 (GRCm39) |
C34* |
probably null |
Het |
| Ppp3cb |
A |
T |
14: 20,581,016 (GRCm39) |
I136K |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,996,745 (GRCm39) |
V341A |
probably benign |
Het |
| Prickle4 |
C |
A |
17: 47,999,543 (GRCm39) |
G337C |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,422,627 (GRCm39) |
Y627N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,782,484 (GRCm39) |
Y1953C |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,064,137 (GRCm39) |
V708D |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,213,914 (GRCm39) |
Q262* |
probably null |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,810,991 (GRCm39) |
N156K |
probably damaging |
Het |
| Ttyh1 |
A |
T |
7: 4,133,580 (GRCm39) |
D295V |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,255,733 (GRCm39) |
T14A |
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
| Zfp239 |
T |
C |
6: 117,848,745 (GRCm39) |
L161P |
probably damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,448,432 (GRCm39) |
T199A |
probably benign |
Het |
|
| Other mutations in Niban1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Niban1
|
APN |
1 |
151,593,472 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01690:Niban1
|
APN |
1 |
151,579,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01762:Niban1
|
APN |
1 |
151,512,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Niban1
|
APN |
1 |
151,525,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01938:Niban1
|
APN |
1 |
151,565,365 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02427:Niban1
|
APN |
1 |
151,593,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02617:Niban1
|
APN |
1 |
151,447,296 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02946:Niban1
|
APN |
1 |
151,525,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0242:Niban1
|
UTSW |
1 |
151,593,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Niban1
|
UTSW |
1 |
151,593,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0279:Niban1
|
UTSW |
1 |
151,584,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0421:Niban1
|
UTSW |
1 |
151,584,833 (GRCm39) |
splice site |
probably benign |
|
|
R0531:Niban1
|
UTSW |
1 |
151,593,835 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0725:Niban1
|
UTSW |
1 |
151,581,766 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1493:Niban1
|
UTSW |
1 |
151,581,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Niban1
|
UTSW |
1 |
151,591,424 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1868:Niban1
|
UTSW |
1 |
151,517,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1944:Niban1
|
UTSW |
1 |
151,571,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1945:Niban1
|
UTSW |
1 |
151,571,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2071:Niban1
|
UTSW |
1 |
151,512,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Niban1
|
UTSW |
1 |
151,584,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2126:Niban1
|
UTSW |
1 |
151,571,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Niban1
|
UTSW |
1 |
151,572,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2180:Niban1
|
UTSW |
1 |
151,593,829 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2402:Niban1
|
UTSW |
1 |
151,565,365 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3689:Niban1
|
UTSW |
1 |
151,579,447 (GRCm39) |
splice site |
probably null |
|
|
R3783:Niban1
|
UTSW |
1 |
151,565,399 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3975:Niban1
|
UTSW |
1 |
151,525,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Niban1
|
UTSW |
1 |
151,571,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4447:Niban1
|
UTSW |
1 |
151,512,153 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4573:Niban1
|
UTSW |
1 |
151,579,517 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4774:Niban1
|
UTSW |
1 |
151,591,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5064:Niban1
|
UTSW |
1 |
151,565,410 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5077:Niban1
|
UTSW |
1 |
151,590,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5187:Niban1
|
UTSW |
1 |
151,579,580 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5484:Niban1
|
UTSW |
1 |
151,593,837 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5553:Niban1
|
UTSW |
1 |
151,592,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5572:Niban1
|
UTSW |
1 |
151,584,941 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5575:Niban1
|
UTSW |
1 |
151,593,991 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5586:Niban1
|
UTSW |
1 |
151,593,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5697:Niban1
|
UTSW |
1 |
151,576,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Niban1
|
UTSW |
1 |
151,571,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Niban1
|
UTSW |
1 |
151,575,858 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7126:Niban1
|
UTSW |
1 |
151,590,318 (GRCm39) |
nonsense |
probably null |
|
|
R7392:Niban1
|
UTSW |
1 |
151,571,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Niban1
|
UTSW |
1 |
151,594,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7577:Niban1
|
UTSW |
1 |
151,594,063 (GRCm39) |
missense |
probably benign |
|
|
R7939:Niban1
|
UTSW |
1 |
151,581,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Niban1
|
UTSW |
1 |
151,593,006 (GRCm39) |
nonsense |
probably null |
|
|
R8164:Niban1
|
UTSW |
1 |
151,593,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8356:Niban1
|
UTSW |
1 |
151,571,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Niban1
|
UTSW |
1 |
151,512,263 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8833:Niban1
|
UTSW |
1 |
151,520,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Niban1
|
UTSW |
1 |
151,575,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Niban1
|
UTSW |
1 |
151,584,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Niban1
|
UTSW |
1 |
151,591,463 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9616:Niban1
|
UTSW |
1 |
151,512,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Niban1
|
UTSW |
1 |
151,593,538 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAGACTCCTCCTCCTCCTG -3'
(R):5'- ATCTATAACCCTTTCTCTGGCAAG -3'
Sequencing Primer
(F):5'- CTCCTGACTGGTCCTTGGG -3'
(R):5'- TCTGGCAAGAGAACGATGTAAGTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation