Incidental Mutation 'IGL01925:Ninl'
| ID |
180255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ninl
|
| Ensembl Gene |
ENSMUSG00000068115 |
| Gene Name |
ninein-like |
| Synonyms |
LOC381388, 4930519N13Rik, LOC381387 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01925
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
150776439-150851330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150812979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 226
(C226S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000128627]
[ENSMUST00000150595]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109896
AA Change: C226S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: C226S
| 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
AA Change: C8S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117001
Gene: ENSMUSG00000068115
AA Change: C8S
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,019,459 (GRCm39) |
D124G |
probably damaging |
Het |
| Arap3 |
C |
T |
18: 38,117,299 (GRCm39) |
V926I |
probably benign |
Het |
| Catspere2 |
T |
A |
1: 177,842,687 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,729,958 (GRCm39) |
V1176M |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,628 (GRCm39) |
D922E |
possibly damaging |
Het |
| Dipk2a |
A |
C |
9: 94,402,509 (GRCm39) |
D384E |
probably damaging |
Het |
| Epm2a |
T |
A |
10: 11,324,502 (GRCm39) |
I197N |
possibly damaging |
Het |
| Faim |
T |
G |
9: 98,872,972 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
A |
G |
4: 62,241,450 (GRCm39) |
I565T |
probably damaging |
Het |
| Fli1 |
G |
A |
9: 32,377,127 (GRCm39) |
P47L |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,781,106 (GRCm39) |
K187R |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hspa5 |
G |
A |
2: 34,664,730 (GRCm39) |
V395I |
probably benign |
Het |
| Ide |
T |
C |
19: 37,255,296 (GRCm39) |
T836A |
unknown |
Het |
| Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
C |
T |
4: 11,235,617 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,389,245 (GRCm39) |
H2060L |
probably benign |
Het |
| Mok |
T |
C |
12: 110,774,646 (GRCm39) |
N208S |
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,184,825 (GRCm39) |
K5R |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,529,260 (GRCm39) |
C1405Y |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
| Onecut2 |
T |
C |
18: 64,474,585 (GRCm39) |
W360R |
probably damaging |
Het |
| Or10al4 |
A |
G |
17: 38,037,002 (GRCm39) |
E29G |
probably benign |
Het |
| Or13f5 |
A |
G |
4: 52,825,910 (GRCm39) |
N171S |
probably benign |
Het |
| Or1af1 |
A |
G |
2: 37,110,058 (GRCm39) |
T186A |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,235 (GRCm39) |
F277I |
probably damaging |
Het |
| Or2w2 |
T |
C |
13: 21,758,341 (GRCm39) |
D95G |
possibly damaging |
Het |
| Or51e1 |
T |
C |
7: 102,359,410 (GRCm39) |
S315P |
probably damaging |
Het |
| Rai14 |
A |
G |
15: 10,595,948 (GRCm39) |
S118P |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,379,399 (GRCm39) |
S269P |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,231,696 (GRCm39) |
T209I |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,596,817 (GRCm39) |
N1094I |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,061,955 (GRCm39) |
|
probably benign |
Het |
| Top1mt |
A |
G |
15: 75,528,992 (GRCm39) |
F584S |
possibly damaging |
Het |
| Trim44 |
A |
T |
2: 102,230,362 (GRCm39) |
L223Q |
probably benign |
Het |
| Trim69 |
T |
A |
2: 121,998,397 (GRCm39) |
L123Q |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,265,875 (GRCm39) |
L1153I |
possibly damaging |
Het |
| Unc13a |
G |
A |
8: 72,087,187 (GRCm39) |
T1520I |
possibly damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,428,973 (GRCm39) |
I701S |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,809,208 (GRCm39) |
T263A |
probably benign |
Het |
| Yeats2 |
T |
G |
16: 19,998,430 (GRCm39) |
|
probably benign |
Het |
| Ythdf2 |
T |
C |
4: 131,938,085 (GRCm39) |
Y37C |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,239 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation