Incidental Mutation 'IGL01697:Ninl'
| ID |
104296 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ninl
|
| Ensembl Gene |
ENSMUSG00000068115 |
| Gene Name |
ninein-like |
| Synonyms |
LOC381387, LOC381388, 4930519N13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
150934519-151039382 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150939947 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1206
(L1206Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000124135]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109896
AA Change: L1206Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: L1206Q
| 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 damaging
Transcript: ENSMUST00000124135
AA Change: L221Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115
AA Change: L221Q
| 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: ENSMUST00000150036
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,119,156 (GRCm38) |
|
probably benign |
Het |
| Arid2 |
A |
C |
15: 96,361,572 (GRCm38) |
|
probably null |
Het |
| Cadm1 |
C |
A |
9: 47,850,324 (GRCm38) |
D435E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,271,198 (GRCm38) |
F33L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,643,730 (GRCm38) |
H199R |
probably benign |
Het |
| F5 |
T |
A |
1: 164,194,052 (GRCm38) |
N1365K |
probably benign |
Het |
| Fam205c |
T |
A |
4: 42,874,163 (GRCm38) |
M2L |
probably benign |
Het |
| Gipc2 |
T |
G |
3: 152,137,608 (GRCm38) |
I131L |
probably benign |
Het |
| Gpc1 |
C |
T |
1: 92,858,410 (GRCm38) |
S507F |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,309,257 (GRCm38) |
D269G |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,366,953 (GRCm38) |
M1K |
probably null |
Het |
| Kif5b |
T |
C |
18: 6,226,871 (GRCm38) |
H129R |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,559,565 (GRCm38) |
C252S |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,767,893 (GRCm38) |
N645K |
probably damaging |
Het |
| Megf9 |
T |
A |
4: 70,433,472 (GRCm38) |
T471S |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,976,493 (GRCm38) |
D586G |
possibly damaging |
Het |
| Olfr1446 |
T |
A |
19: 12,890,467 (GRCm38) |
T37S |
probably benign |
Het |
| Olfr45 |
T |
C |
7: 140,691,652 (GRCm38) |
V249A |
possibly damaging |
Het |
| Olfr765 |
C |
A |
10: 129,046,502 (GRCm38) |
C187F |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 144,195,184 (GRCm38) |
N221K |
possibly damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,324,579 (GRCm38) |
A365V |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,220,464 (GRCm38) |
E181G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,423,623 (GRCm38) |
|
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,980,457 (GRCm38) |
|
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,875,663 (GRCm38) |
I8V |
probably benign |
Het |
| Stim1 |
A |
T |
7: 102,425,969 (GRCm38) |
|
probably benign |
Het |
| Ttc37 |
C |
T |
13: 76,128,733 (GRCm38) |
L479F |
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,399,729 (GRCm38) |
S357P |
probably benign |
Het |
| Vmn1r178 |
T |
A |
7: 23,893,689 (GRCm38) |
I54N |
probably damaging |
Het |
| Zdhhc2 |
T |
C |
8: 40,467,419 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Ninl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Ninl
|
APN |
2 |
150,966,241 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01756:Ninl
|
APN |
2 |
150,979,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01925:Ninl
|
APN |
2 |
150,971,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02341:Ninl
|
APN |
2 |
150,944,605 (GRCm38) |
nonsense |
probably null |
|
|
IGL02838:Ninl
|
APN |
2 |
150,955,711 (GRCm38) |
splice site |
probably null |
|
|
IGL02868:Ninl
|
APN |
2 |
150,937,054 (GRCm38) |
missense |
probably benign |
|
|
IGL03116:Ninl
|
APN |
2 |
150,964,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03396:Ninl
|
APN |
2 |
150,966,212 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0117:Ninl
|
UTSW |
2 |
150,937,673 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0685:Ninl
|
UTSW |
2 |
150,939,855 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0928:Ninl
|
UTSW |
2 |
150,963,475 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1051:Ninl
|
UTSW |
2 |
150,970,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1441:Ninl
|
UTSW |
2 |
150,971,124 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1493:Ninl
|
UTSW |
2 |
150,980,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1499:Ninl
|
UTSW |
2 |
150,980,176 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1539:Ninl
|
UTSW |
2 |
150,975,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1658:Ninl
|
UTSW |
2 |
150,964,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2038:Ninl
|
UTSW |
2 |
150,975,843 (GRCm38) |
nonsense |
probably null |
|
|
R2156:Ninl
|
UTSW |
2 |
150,944,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2232:Ninl
|
UTSW |
2 |
150,950,050 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2373:Ninl
|
UTSW |
2 |
150,980,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3743:Ninl
|
UTSW |
2 |
150,950,248 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3906:Ninl
|
UTSW |
2 |
150,980,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3950:Ninl
|
UTSW |
2 |
150,952,488 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4283:Ninl
|
UTSW |
2 |
150,953,416 (GRCm38) |
unclassified |
probably benign |
|
|
R4798:Ninl
|
UTSW |
2 |
150,959,881 (GRCm38) |
nonsense |
probably null |
|
|
R4963:Ninl
|
UTSW |
2 |
150,939,909 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4998:Ninl
|
UTSW |
2 |
150,953,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5343:Ninl
|
UTSW |
2 |
150,971,190 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5810:Ninl
|
UTSW |
2 |
150,950,168 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5825:Ninl
|
UTSW |
2 |
150,940,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6436:Ninl
|
UTSW |
2 |
150,966,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6728:Ninl
|
UTSW |
2 |
150,975,857 (GRCm38) |
nonsense |
probably null |
|
|
R6734:Ninl
|
UTSW |
2 |
150,945,083 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6997:Ninl
|
UTSW |
2 |
150,966,225 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7135:Ninl
|
UTSW |
2 |
150,955,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7157:Ninl
|
UTSW |
2 |
150,949,343 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7315:Ninl
|
UTSW |
2 |
150,950,050 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7840:Ninl
|
UTSW |
2 |
150,966,096 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8134:Ninl
|
UTSW |
2 |
150,950,314 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8319:Ninl
|
UTSW |
2 |
150,959,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8802:Ninl
|
UTSW |
2 |
150,935,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8997:Ninl
|
UTSW |
2 |
150,959,896 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9231:Ninl
|
UTSW |
2 |
150,950,209 (GRCm38) |
missense |
probably benign |
|
|
R9465:Ninl
|
UTSW |
2 |
150,940,806 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9474:Ninl
|
UTSW |
2 |
150,940,806 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9571:Ninl
|
UTSW |
2 |
150,949,883 (GRCm38) |
missense |
probably benign |
|
|
R9789:Ninl
|
UTSW |
2 |
150,949,781 (GRCm38) |
missense |
probably benign |
0.05 |
|
X0062:Ninl
|
UTSW |
2 |
150,970,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ninl
|
UTSW |
2 |
150,953,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation