Incidental Mutation 'R6997:Ninl'
| ID |
544267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ninl
|
| Ensembl Gene |
ENSMUSG00000068115 |
| Gene Name |
ninein-like |
| Synonyms |
LOC381388, 4930519N13Rik, LOC381387 |
| MMRRC Submission |
045103-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150776439-150851330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 150808145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 294
(H294Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000150595]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109896
AA Change: H294Q
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: H294Q
| 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 benign
Transcript: ENSMUST00000150595
AA Change: T39K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000117001
Gene: ENSMUSG00000068115
AA Change: T39K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (58/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,171,539 (GRCm39) |
Y764C |
probably benign |
Het |
| Atxn1 |
C |
T |
13: 45,721,095 (GRCm39) |
V267M |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,505,793 (GRCm38) |
H759L |
possibly damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,779,474 (GRCm39) |
L111P |
probably damaging |
Het |
| Ccl8 |
A |
T |
11: 82,006,865 (GRCm39) |
D26V |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,882,596 (GRCm39) |
|
probably benign |
Het |
| Cnga3 |
C |
A |
1: 37,283,965 (GRCm39) |
H89Q |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,056,190 (GRCm39) |
Q264L |
probably damaging |
Het |
| Coil |
A |
G |
11: 88,872,673 (GRCm39) |
T345A |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,281 (GRCm39) |
L461P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,414,922 (GRCm39) |
E151G |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,168,743 (GRCm39) |
C357S |
probably null |
Het |
| Ebf3 |
A |
C |
7: 136,826,994 (GRCm39) |
I306R |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,128,360 (GRCm39) |
H580R |
possibly damaging |
Het |
| Ermap |
A |
T |
4: 119,035,810 (GRCm39) |
F393I |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,613,151 (GRCm39) |
T217A |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,762,732 (GRCm39) |
Q745* |
probably null |
Het |
| Gja8 |
A |
G |
3: 96,826,657 (GRCm39) |
V335A |
probably benign |
Het |
| Gm21560 |
A |
T |
14: 6,218,333 (GRCm38) |
N48K |
probably damaging |
Het |
| Gpr158 |
C |
T |
2: 21,653,802 (GRCm39) |
T457I |
possibly damaging |
Het |
| Kcnv1 |
A |
T |
15: 44,977,997 (GRCm39) |
S14T |
unknown |
Het |
| Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
| Lamc2 |
G |
A |
1: 153,012,508 (GRCm39) |
T722M |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,142 (GRCm39) |
T1860A |
unknown |
Het |
| Map2k7 |
T |
C |
8: 4,294,035 (GRCm39) |
Y194H |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,881,982 (GRCm39) |
M282K |
probably benign |
Het |
| Mmp10 |
A |
G |
9: 7,503,531 (GRCm39) |
I134V |
probably benign |
Het |
| Mrtfa |
G |
T |
15: 80,902,649 (GRCm39) |
S220* |
probably null |
Het |
| Msh5 |
A |
T |
17: 35,248,978 (GRCm39) |
L685Q |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,111,463 (GRCm39) |
I1634N |
possibly damaging |
Het |
| Myh13 |
C |
T |
11: 67,217,980 (GRCm39) |
R18* |
probably null |
Het |
| Myo3b |
A |
T |
2: 69,957,329 (GRCm39) |
I185L |
probably damaging |
Het |
| Or4a79 |
G |
A |
2: 89,552,269 (GRCm39) |
A62V |
possibly damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,238 (GRCm39) |
S235T |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,607 (GRCm39) |
I214T |
possibly damaging |
Het |
| Orm3 |
T |
A |
4: 63,275,180 (GRCm39) |
L97Q |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,889,281 (GRCm39) |
N432S |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,285,822 (GRCm39) |
D1020E |
probably damaging |
Het |
| Pxk |
T |
A |
14: 8,122,371 (GRCm38) |
D60E |
probably benign |
Het |
| Rack1 |
T |
A |
11: 48,694,752 (GRCm39) |
V198E |
probably damaging |
Het |
| Ripk1 |
C |
T |
13: 34,201,100 (GRCm39) |
A271V |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
G |
T |
13: 11,669,266 (GRCm39) |
H3513N |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,534,147 (GRCm39) |
D509E |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,233,414 (GRCm39) |
V181A |
probably benign |
Het |
| Slc5a4b |
C |
T |
10: 75,925,812 (GRCm39) |
A198T |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,848,552 (GRCm39) |
R357H |
possibly damaging |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11b |
G |
A |
15: 54,115,770 (GRCm39) |
L276F |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,493,118 (GRCm39) |
V723A |
probably benign |
Het |
| Usp45 |
G |
T |
4: 21,781,844 (GRCm39) |
R36I |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,838,737 (GRCm39) |
D2269G |
probably damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,338 (GRCm39) |
M719L |
possibly damaging |
Het |
| Vmn2r52 |
C |
T |
7: 9,902,998 (GRCm39) |
G477R |
probably benign |
Het |
| Vmn2r60 |
C |
A |
7: 41,791,716 (GRCm39) |
N546K |
probably benign |
Het |
| Wnt8b |
G |
A |
19: 44,500,280 (GRCm39) |
C289Y |
probably damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,329,925 (GRCm39) |
M10R |
probably benign |
Het |
| Zfp945 |
T |
A |
17: 23,071,543 (GRCm39) |
K140* |
probably null |
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 |
|
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 |
|
|
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'- GCCTTAGACACTATACAACAGGG -3'
(R):5'- ATGCCAAGTGTCTTCCCTCG -3'
Sequencing Primer
(F):5'- GCAGCCATAAACAGTGAGTTGC -3'
(R):5'- AAGGGGGCTGCGGATCATTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation