Incidental Mutation 'R1441:Ninl'
ID |
160989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ninl
|
Ensembl Gene |
ENSMUSG00000068115 |
Gene Name |
ninein-like |
Synonyms |
LOC381388, 4930519N13Rik, LOC381387 |
MMRRC Submission |
039496-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1441 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
150776439-150851330 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 150813044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 204
(G204V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000128627]
[ENSMUST00000150595]
|
AlphaFold |
Q6ZQ12 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109896
AA Change: G204V
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105522 Gene: ENSMUSG00000068115 AA Change: G204V
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 |
noncoding transcript
Transcript: ENSMUST00000128564
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128627
|
SMART Domains |
Protein: ENSMUSP00000121872 Gene: ENSMUSG00000068115
Domain | Start | End | E-Value | Type |
SCOP:d1c07a_
|
3 |
76 |
3e-7 |
SMART |
PDB:2PMY|B
|
10 |
75 |
1e-6 |
PDB |
Blast:EFh
|
12 |
40 |
4e-12 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149268
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149979
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150595
|
SMART Domains |
Protein: ENSMUSP00000117001 Gene: ENSMUSG00000068115
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
coiled coil region
|
85 |
122 |
N/A |
INTRINSIC |
coiled coil region
|
160 |
216 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
A |
T |
8: 114,481,194 (GRCm39) |
|
probably null |
Het |
Ankrd16 |
T |
C |
2: 11,783,557 (GRCm39) |
L53P |
probably damaging |
Het |
Arsk |
A |
T |
13: 76,223,083 (GRCm39) |
N171K |
probably benign |
Het |
Brwd1 |
A |
C |
16: 95,867,351 (GRCm39) |
C161W |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,249,402 (GRCm39) |
N53S |
probably benign |
Het |
Ccdc13 |
A |
T |
9: 121,642,515 (GRCm39) |
V403E |
probably benign |
Het |
Ccdc83 |
T |
A |
7: 89,893,351 (GRCm39) |
E135D |
probably damaging |
Het |
Ccser1 |
C |
T |
6: 62,357,016 (GRCm39) |
T818I |
probably benign |
Het |
Cd44 |
T |
A |
2: 102,676,763 (GRCm39) |
T301S |
probably damaging |
Het |
Eepd1 |
G |
A |
9: 25,394,499 (GRCm39) |
M254I |
probably benign |
Het |
Ephb4 |
C |
T |
5: 137,359,509 (GRCm39) |
R360C |
probably damaging |
Het |
Fam149a |
G |
T |
8: 45,808,684 (GRCm39) |
Q150K |
probably damaging |
Het |
G6pc2 |
G |
A |
2: 69,051,198 (GRCm39) |
C97Y |
probably damaging |
Het |
Gcsam |
T |
A |
16: 45,433,401 (GRCm39) |
M15K |
probably benign |
Het |
Impdh2 |
C |
A |
9: 108,441,975 (GRCm39) |
T201K |
probably benign |
Het |
Kdm2b |
C |
T |
5: 123,070,943 (GRCm39) |
E379K |
probably benign |
Het |
Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
Mink1 |
T |
A |
11: 70,497,940 (GRCm39) |
N514K |
possibly damaging |
Het |
Mmp12 |
C |
T |
9: 7,354,787 (GRCm39) |
P330L |
probably damaging |
Het |
Mroh2a |
A |
G |
1: 88,169,353 (GRCm39) |
D676G |
possibly damaging |
Het |
Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,356,225 (GRCm39) |
H1130R |
possibly damaging |
Het |
Or12k5 |
C |
A |
2: 36,895,131 (GRCm39) |
R165L |
possibly damaging |
Het |
Or2a54 |
T |
C |
6: 43,092,880 (GRCm39) |
V68A |
probably benign |
Het |
Or4k51 |
T |
C |
2: 111,585,347 (GRCm39) |
F251S |
probably damaging |
Het |
Or5ac20 |
G |
A |
16: 59,104,228 (GRCm39) |
L211F |
probably benign |
Het |
Or5an11 |
T |
A |
19: 12,245,750 (GRCm39) |
L52* |
probably null |
Het |
Or8c15 |
T |
C |
9: 38,120,777 (GRCm39) |
C141R |
probably damaging |
Het |
Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
Pip4p2 |
A |
T |
4: 14,892,477 (GRCm39) |
I114L |
possibly damaging |
Het |
Ptpn22 |
G |
T |
3: 103,781,563 (GRCm39) |
W114L |
probably damaging |
Het |
Rasa1 |
C |
T |
13: 85,400,540 (GRCm39) |
|
probably null |
Het |
Rbks |
C |
T |
5: 31,817,341 (GRCm39) |
V143I |
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,269,241 (GRCm39) |
F515L |
probably damaging |
Het |
Ror1 |
A |
G |
4: 100,298,180 (GRCm39) |
T518A |
probably benign |
Het |
Rpusd4 |
C |
A |
9: 35,184,065 (GRCm39) |
A240E |
probably damaging |
Het |
Rufy3 |
T |
C |
5: 88,780,374 (GRCm39) |
L374P |
probably damaging |
Het |
Sf3a3 |
T |
C |
4: 124,618,935 (GRCm39) |
S299P |
probably damaging |
Het |
Slc7a12 |
T |
G |
3: 14,562,414 (GRCm39) |
S264A |
possibly damaging |
Het |
Tasor |
T |
A |
14: 27,186,217 (GRCm39) |
C805* |
probably null |
Het |
Tm9sf1 |
T |
C |
14: 55,873,782 (GRCm39) |
Y572C |
probably damaging |
Het |
Tpcn2 |
G |
A |
7: 144,813,871 (GRCm39) |
S475L |
probably benign |
Het |
Trim17 |
A |
G |
11: 58,856,018 (GRCm39) |
D25G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,572,121 (GRCm39) |
K26257N |
probably damaging |
Het |
Txndc11 |
C |
A |
16: 10,952,414 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
Vmn2r58 |
G |
A |
7: 41,486,864 (GRCm39) |
T677I |
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 |
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 |
R4283:Ninl
|
UTSW |
2 |
150,795,336 (GRCm39) |
unclassified |
probably benign |
|
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'- GCTCAGTACTCAATGTGACCGCTAC -3'
(R):5'- TGGAATACTCCAGCTTGGCTCTCC -3'
Sequencing Primer
(F):5'- GTACTCAATGTGACCGCTACAAATAC -3'
(R):5'- TGAGTTATGAAAGTAACTAATGCCC -3'
|
Posted On |
2014-03-14 |