Incidental Mutation 'R3950:Ninl'
| ID |
307853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ninl
|
| Ensembl Gene |
ENSMUSG00000068115 |
| Gene Name |
ninein-like |
| Synonyms |
LOC381387, LOC381388, 4930519N13Rik |
| MMRRC Submission |
040930-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3950 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
150934519-151039382 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150952488 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 740
(I740K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000124135]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109896
AA Change: I740K
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: I740K
| 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 |
unknown
Transcript: ENSMUST00000124135
AA Change: I102K
|
| SMART Domains |
Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115
AA Change: I102K
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,664,403 (GRCm38) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,785,789 (GRCm38) |
I186N |
probably damaging |
Het |
| Appbp2 |
A |
G |
11: 85,194,706 (GRCm38) |
I458T |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,185,144 (GRCm38) |
Y291C |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,467,292 (GRCm38) |
Y415C |
probably damaging |
Het |
| B4galt4 |
G |
T |
16: 38,768,022 (GRCm38) |
A72S |
probably benign |
Het |
| C3 |
T |
C |
17: 57,225,286 (GRCm38) |
R178G |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,657,326 (GRCm38) |
Y3C |
probably benign |
Het |
| Col11a1 |
T |
C |
3: 114,121,445 (GRCm38) |
|
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,977,358 (GRCm38) |
F294L |
possibly damaging |
Het |
| Dera |
A |
G |
6: 137,837,120 (GRCm38) |
Y100C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,112,061 (GRCm38) |
Y276* |
probably null |
Het |
| Eea1 |
A |
T |
10: 96,042,134 (GRCm38) |
N1389I |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,399,716 (GRCm38) |
Y509N |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,998,271 (GRCm38) |
S2145F |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,247,420 (GRCm38) |
K219* |
probably null |
Het |
| Fsd1 |
G |
A |
17: 55,995,517 (GRCm38) |
|
probably null |
Het |
| Haspin |
A |
G |
11: 73,136,395 (GRCm38) |
Y623H |
probably damaging |
Het |
| Hsd3b1 |
C |
T |
3: 98,856,138 (GRCm38) |
V56M |
possibly damaging |
Het |
| Hyou1 |
C |
T |
9: 44,385,227 (GRCm38) |
T483I |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,343,232 (GRCm38) |
L365S |
possibly damaging |
Het |
| Kdm6b |
G |
T |
11: 69,405,615 (GRCm38) |
P609T |
probably damaging |
Het |
| Klhl18 |
T |
A |
9: 110,428,902 (GRCm38) |
Y490F |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,542,428 (GRCm38) |
Q545* |
probably null |
Het |
| L1td1 |
T |
C |
4: 98,737,353 (GRCm38) |
L595P |
probably benign |
Het |
| Map3k20 |
T |
G |
2: 72,438,300 (GRCm38) |
I550M |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,878,530 (GRCm38) |
V941E |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,697,139 (GRCm38) |
N633S |
probably benign |
Het |
| Npepl1 |
A |
G |
2: 174,121,113 (GRCm38) |
N431D |
probably damaging |
Het |
| Olfr1128 |
T |
C |
2: 87,545,065 (GRCm38) |
T160A |
probably damaging |
Het |
| Pacs2 |
T |
C |
12: 113,061,113 (GRCm38) |
S408P |
probably damaging |
Het |
| Pard6b |
C |
T |
2: 168,099,194 (GRCm38) |
T367I |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,716,515 (GRCm38) |
E525G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,987,318 (GRCm38) |
I130T |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,617,967 (GRCm38) |
H506Y |
probably benign |
Het |
| Pdhx |
A |
G |
2: 103,035,241 (GRCm38) |
S199P |
probably damaging |
Het |
| Pdia2 |
C |
A |
17: 26,197,616 (GRCm38) |
|
probably null |
Het |
| Pif1 |
C |
A |
9: 65,591,834 (GRCm38) |
N445K |
probably damaging |
Het |
| Prickle4 |
T |
C |
17: 47,688,582 (GRCm38) |
K349E |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,524,959 (GRCm38) |
E944A |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,589,194 (GRCm38) |
M173K |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,262,662 (GRCm38) |
L515P |
probably damaging |
Het |
| Rcvrn |
A |
G |
11: 67,700,051 (GRCm38) |
K154E |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,066,388 (GRCm38) |
V2059I |
probably damaging |
Het |
| Rtn4ip1 |
T |
A |
10: 43,909,897 (GRCm38) |
|
probably null |
Het |
| Sema5a |
T |
C |
15: 32,689,338 (GRCm38) |
Y1050H |
probably damaging |
Het |
| Slc25a28 |
C |
T |
19: 43,664,269 (GRCm38) |
V318I |
probably benign |
Het |
| Srek1 |
G |
A |
13: 103,744,895 (GRCm38) |
R408W |
unknown |
Het |
| Synrg |
C |
T |
11: 83,989,815 (GRCm38) |
T444I |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,682,069 (GRCm38) |
L776S |
probably damaging |
Het |
| Tmem127 |
T |
C |
2: 127,248,657 (GRCm38) |
L31P |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 79,073,186 (GRCm38) |
T190S |
probably benign |
Het |
| Trip10 |
T |
A |
17: 57,253,411 (GRCm38) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,649,506 (GRCm38) |
Y31C |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,622,570 (GRCm38) |
H1718L |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,687,546 (GRCm38) |
F495S |
probably damaging |
Het |
| Zfp280d |
G |
T |
9: 72,296,019 (GRCm38) |
Q16H |
possibly damaging |
Het |
| Zfp521 |
A |
G |
18: 13,846,346 (GRCm38) |
S337P |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 13,261,577 (GRCm38) |
T218S |
possibly damaging |
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 |
|
IGL01697:Ninl
|
APN |
2 |
150,939,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTTGCAACCAGGCAGTGAG -3'
(R):5'- TGTATGCCAAGTCGCAGGAG -3'
Sequencing Primer
(F):5'- AAACTACTCCATGGCCCAGTGTG -3'
(R):5'- CAAGTCGCAGGAGGTCATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation