Incidental Mutation 'R4283:Ninl'
ID |
321941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ninl
|
Ensembl Gene |
ENSMUSG00000068115 |
Gene Name |
ninein-like |
Synonyms |
LOC381388, 4930519N13Rik, LOC381387 |
MMRRC Submission |
041651-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4283 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
150776439-150851330 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 150795336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000124135]
|
AlphaFold |
Q6ZQ12 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109896
|
SMART Domains |
Protein: ENSMUSP00000105522 Gene: ENSMUSG00000068115
Domain | Start | End | E-Value | Type |
EFh
|
12 |
40 |
6.56e0 |
SMART |
low complexity region
|
76 |
93 |
N/A |
INTRINSIC |
EFh
|
201 |
229 |
4.45e1 |
SMART |
EFh
|
238 |
266 |
8.98e-4 |
SMART |
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
coiled coil region
|
381 |
423 |
N/A |
INTRINSIC |
coiled coil region
|
461 |
517 |
N/A |
INTRINSIC |
coiled coil region
|
541 |
584 |
N/A |
INTRINSIC |
coiled coil region
|
620 |
699 |
N/A |
INTRINSIC |
coiled coil region
|
728 |
751 |
N/A |
INTRINSIC |
coiled coil region
|
835 |
863 |
N/A |
INTRINSIC |
coiled coil region
|
1058 |
1334 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124135
|
SMART Domains |
Protein: ENSMUSP00000122069 Gene: ENSMUSG00000068115
Domain | Start | End | E-Value | Type |
coiled coil region
|
16 |
61 |
N/A |
INTRINSIC |
coiled coil region
|
92 |
266 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147293
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone-marrow myeloid hyperplasia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
A |
G |
11: 117,697,087 (GRCm39) |
T229A |
probably benign |
Het |
Adgrg5 |
T |
G |
8: 95,664,326 (GRCm39) |
V312G |
probably benign |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Camk2b |
A |
C |
11: 5,937,099 (GRCm39) |
S327A |
probably benign |
Het |
Card9 |
A |
G |
2: 26,247,309 (GRCm39) |
I280T |
possibly damaging |
Het |
Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
Cga |
T |
C |
4: 34,905,264 (GRCm39) |
|
probably null |
Het |
Copg1 |
C |
T |
6: 87,885,527 (GRCm39) |
T723M |
probably damaging |
Het |
Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
Crtc2 |
A |
G |
3: 90,166,543 (GRCm39) |
|
probably benign |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Ghr |
C |
A |
15: 3,362,930 (GRCm39) |
V181L |
possibly damaging |
Het |
Gm10750 |
A |
G |
2: 148,857,916 (GRCm39) |
F112L |
unknown |
Het |
Gm17541 |
A |
G |
12: 4,739,656 (GRCm39) |
|
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Hdac10 |
A |
G |
15: 89,009,826 (GRCm39) |
L402P |
possibly damaging |
Het |
Hsd17b12 |
G |
C |
2: 93,863,931 (GRCm39) |
R304G |
unknown |
Het |
Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
Ncaph |
A |
G |
2: 126,963,005 (GRCm39) |
|
probably benign |
Het |
Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
Pcsk4 |
C |
A |
10: 80,165,287 (GRCm39) |
|
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,699,734 (GRCm39) |
E60G |
probably damaging |
Het |
Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,294,824 (GRCm39) |
Y177C |
probably damaging |
Het |
Tas2r104 |
C |
T |
6: 131,662,374 (GRCm39) |
A112T |
probably damaging |
Het |
Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
Tas2r143 |
T |
A |
6: 42,378,007 (GRCm39) |
|
probably null |
Het |
Tfeb |
A |
G |
17: 48,100,699 (GRCm39) |
E305G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Upf2 |
A |
G |
2: 5,978,369 (GRCm39) |
N411S |
unknown |
Het |
Vmn2r52 |
C |
T |
7: 9,904,565 (GRCm39) |
G425R |
possibly damaging |
Het |
Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
probably damaging |
Het |
|
Other mutations in Ninl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Ninl
|
APN |
2 |
150,808,161 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01697:Ninl
|
APN |
2 |
150,781,867 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01756:Ninl
|
APN |
2 |
150,821,436 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01925:Ninl
|
APN |
2 |
150,812,979 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02341:Ninl
|
APN |
2 |
150,786,525 (GRCm39) |
nonsense |
probably null |
|
IGL02838:Ninl
|
APN |
2 |
150,797,631 (GRCm39) |
splice site |
probably null |
|
IGL02868:Ninl
|
APN |
2 |
150,778,974 (GRCm39) |
missense |
probably benign |
|
IGL03116:Ninl
|
APN |
2 |
150,806,139 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03396:Ninl
|
APN |
2 |
150,808,132 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0117:Ninl
|
UTSW |
2 |
150,779,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R0685:Ninl
|
UTSW |
2 |
150,781,775 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0928:Ninl
|
UTSW |
2 |
150,805,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R1051:Ninl
|
UTSW |
2 |
150,812,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R1441:Ninl
|
UTSW |
2 |
150,813,044 (GRCm39) |
missense |
probably benign |
0.10 |
R1493:Ninl
|
UTSW |
2 |
150,822,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R1499:Ninl
|
UTSW |
2 |
150,822,096 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1539:Ninl
|
UTSW |
2 |
150,817,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1658:Ninl
|
UTSW |
2 |
150,806,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R2038:Ninl
|
UTSW |
2 |
150,817,763 (GRCm39) |
nonsense |
probably null |
|
R2156:Ninl
|
UTSW |
2 |
150,786,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R2232:Ninl
|
UTSW |
2 |
150,791,970 (GRCm39) |
missense |
probably benign |
0.00 |
R2373:Ninl
|
UTSW |
2 |
150,822,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R3743:Ninl
|
UTSW |
2 |
150,792,168 (GRCm39) |
missense |
probably benign |
0.01 |
R3906:Ninl
|
UTSW |
2 |
150,822,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R3950:Ninl
|
UTSW |
2 |
150,794,408 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4798:Ninl
|
UTSW |
2 |
150,801,801 (GRCm39) |
nonsense |
probably null |
|
R4963:Ninl
|
UTSW |
2 |
150,781,829 (GRCm39) |
missense |
probably benign |
0.04 |
R4998:Ninl
|
UTSW |
2 |
150,795,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R5343:Ninl
|
UTSW |
2 |
150,813,110 (GRCm39) |
missense |
probably benign |
0.01 |
R5810:Ninl
|
UTSW |
2 |
150,792,088 (GRCm39) |
missense |
probably benign |
0.31 |
R5825:Ninl
|
UTSW |
2 |
150,782,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R6436:Ninl
|
UTSW |
2 |
150,808,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R6728:Ninl
|
UTSW |
2 |
150,817,777 (GRCm39) |
nonsense |
probably null |
|
R6734:Ninl
|
UTSW |
2 |
150,787,003 (GRCm39) |
critical splice donor site |
probably null |
|
R6997:Ninl
|
UTSW |
2 |
150,808,145 (GRCm39) |
missense |
probably benign |
0.08 |
R7135:Ninl
|
UTSW |
2 |
150,797,524 (GRCm39) |
missense |
probably benign |
0.00 |
R7157:Ninl
|
UTSW |
2 |
150,791,263 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7315:Ninl
|
UTSW |
2 |
150,791,970 (GRCm39) |
missense |
probably benign |
0.00 |
R7840:Ninl
|
UTSW |
2 |
150,808,016 (GRCm39) |
missense |
probably benign |
0.00 |
R8134:Ninl
|
UTSW |
2 |
150,792,234 (GRCm39) |
missense |
probably benign |
0.01 |
R8319:Ninl
|
UTSW |
2 |
150,801,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R8802:Ninl
|
UTSW |
2 |
150,777,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Ninl
|
UTSW |
2 |
150,801,816 (GRCm39) |
missense |
probably damaging |
0.98 |
R9231:Ninl
|
UTSW |
2 |
150,792,129 (GRCm39) |
missense |
probably benign |
|
R9465:Ninl
|
UTSW |
2 |
150,782,726 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9474:Ninl
|
UTSW |
2 |
150,782,726 (GRCm39) |
missense |
probably benign |
0.27 |
R9571:Ninl
|
UTSW |
2 |
150,791,803 (GRCm39) |
missense |
probably benign |
|
R9789:Ninl
|
UTSW |
2 |
150,791,701 (GRCm39) |
missense |
probably benign |
0.05 |
X0062:Ninl
|
UTSW |
2 |
150,811,966 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ninl
|
UTSW |
2 |
150,795,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGCAGTCTGAGAAGCTG -3'
(R):5'- CTGTCCATGGATCCTCAACC -3'
Sequencing Primer
(F):5'- AGCTGAACACATGGCTTTGC -3'
(R):5'- ATGGATCCTCAACCGCAGTG -3'
|
Posted On |
2015-06-20 |