Incidental Mutation 'IGL02341:Ninl'
| ID |
289072 |
| 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 # |
IGL02341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
150776439-150851330 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 150786525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 153
(C153*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000124135]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109896
AA Change: C1138*
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: C1138*
| 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: ENSMUST00000117833
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124135
AA Change: C153*
|
| SMART Domains |
Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115
AA Change: C153*
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
C |
T |
15: 96,270,066 (GRCm39) |
S1393L |
probably benign |
Het |
| Bahcc1 |
T |
A |
11: 120,163,346 (GRCm39) |
I548N |
probably damaging |
Het |
| Baiap3 |
A |
T |
17: 25,467,290 (GRCm39) |
L405Q |
possibly damaging |
Het |
| Cacna1g |
T |
G |
11: 94,352,978 (GRCm39) |
Q349P |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,213,978 (GRCm39) |
T184A |
possibly damaging |
Het |
| Ccdc63 |
A |
G |
5: 122,251,261 (GRCm39) |
I383T |
probably benign |
Het |
| Ccnk |
A |
G |
12: 108,161,989 (GRCm39) |
E298G |
unknown |
Het |
| Ccnt1 |
T |
C |
15: 98,444,664 (GRCm39) |
E223G |
possibly damaging |
Het |
| Clcc1 |
T |
A |
3: 108,580,699 (GRCm39) |
L333I |
possibly damaging |
Het |
| Cyp2b10 |
G |
A |
7: 25,610,667 (GRCm39) |
R59Q |
probably benign |
Het |
| Cyp3a41b |
T |
A |
5: 145,510,461 (GRCm39) |
T138S |
probably benign |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,966,231 (GRCm39) |
I2474F |
probably damaging |
Het |
| Dok1 |
T |
C |
6: 83,010,035 (GRCm39) |
T25A |
probably damaging |
Het |
| Ears2 |
G |
A |
7: 121,638,987 (GRCm39) |
A479V |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,571,934 (GRCm39) |
I981F |
possibly damaging |
Het |
| Gm8730 |
A |
G |
8: 103,591,775 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9962 |
C |
T |
7: 57,037,042 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
T |
8: 107,600,637 (GRCm39) |
Y33F |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,120,159 (GRCm39) |
S607P |
possibly damaging |
Het |
| Hlcs |
T |
A |
16: 94,031,969 (GRCm39) |
I612F |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,741,946 (GRCm39) |
S663T |
possibly damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,060,802 (GRCm39) |
H100R |
probably benign |
Het |
| Lypd8l |
T |
C |
11: 58,503,656 (GRCm39) |
S17G |
possibly damaging |
Het |
| Magi2 |
T |
A |
5: 20,671,201 (GRCm39) |
I678N |
probably damaging |
Het |
| Megf11 |
G |
A |
9: 64,451,902 (GRCm39) |
G109S |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,356,281 (GRCm39) |
I497K |
probably damaging |
Het |
| Mybpc2 |
A |
C |
7: 44,164,354 (GRCm39) |
S404A |
probably benign |
Het |
| Mylip |
A |
G |
13: 45,544,752 (GRCm39) |
R59G |
probably damaging |
Het |
| Mylk3 |
A |
T |
8: 86,078,601 (GRCm39) |
I501N |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,778,871 (GRCm39) |
|
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,370 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Nf1 |
C |
T |
11: 79,455,752 (GRCm39) |
A2554V |
probably benign |
Het |
| Niban3 |
A |
T |
8: 72,056,443 (GRCm39) |
N381I |
possibly damaging |
Het |
| Nlrp5 |
C |
T |
7: 23,103,577 (GRCm39) |
R15C |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,639,926 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
A |
11: 59,026,651 (GRCm39) |
R184L |
probably benign |
Het |
| Or6c202 |
T |
A |
10: 128,996,302 (GRCm39) |
I184F |
probably benign |
Het |
| Or6c6c |
A |
T |
10: 129,541,358 (GRCm39) |
T204S |
probably damaging |
Het |
| Or6c8 |
A |
T |
10: 128,915,330 (GRCm39) |
C167* |
probably null |
Het |
| Phip |
A |
T |
9: 82,814,936 (GRCm39) |
V262D |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,154,360 (GRCm38) |
S694T |
probably benign |
Het |
| Reck |
T |
A |
4: 43,925,160 (GRCm39) |
D466E |
probably damaging |
Het |
| Rimbp2 |
G |
T |
5: 128,878,025 (GRCm39) |
Y213* |
probably null |
Het |
| Scn2a |
C |
T |
2: 65,518,721 (GRCm39) |
T365M |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,835,314 (GRCm39) |
T120S |
probably benign |
Het |
| Sp7 |
T |
A |
15: 102,267,657 (GRCm39) |
T50S |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,432,750 (GRCm39) |
R304G |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,695,257 (GRCm39) |
S67P |
probably damaging |
Het |
| Tjp1 |
G |
A |
7: 64,962,382 (GRCm39) |
T1185I |
probably damaging |
Het |
| Tspan2 |
T |
A |
3: 102,672,529 (GRCm39) |
I178N |
probably damaging |
Het |
| Tusc2 |
T |
A |
9: 107,442,109 (GRCm39) |
*103R |
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,203,600 (GRCm39) |
*47R |
probably null |
Het |
| Unc13c |
T |
A |
9: 73,840,492 (GRCm39) |
I120F |
possibly damaging |
Het |
| Vcpip1 |
T |
A |
1: 9,795,175 (GRCm39) |
K1065N |
possibly damaging |
Het |
| Zfp532 |
C |
A |
18: 65,757,849 (GRCm39) |
P594Q |
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 |
|
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 |
2015-04-16 |
Incidental Mutation