Incidental Mutation 'R8319:Ninl'
| ID |
641840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ninl
|
| Ensembl Gene |
ENSMUSG00000068115 |
| Gene Name |
ninein-like |
| Synonyms |
LOC381388, 4930519N13Rik, LOC381387 |
| MMRRC Submission |
067856-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
150776439-150851330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150801827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 147
(L147H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000150595]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109896
AA Change: L448H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: L448H
| 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: ENSMUST00000150595
AA Change: L147H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117001
Gene: ENSMUSG00000068115
AA Change: L147H
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,486 (GRCm39) |
D115E |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,214,315 (GRCm39) |
L197Q |
probably damaging |
Het |
| Adamts14 |
T |
G |
10: 61,057,706 (GRCm39) |
N547T |
probably benign |
Het |
| Ampd3 |
T |
A |
7: 110,394,982 (GRCm39) |
S301R |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Atl1 |
A |
T |
12: 70,002,093 (GRCm39) |
T351S |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,614,735 (GRCm39) |
I1315V |
|
Het |
| Col12a1 |
C |
T |
9: 79,555,979 (GRCm39) |
G2013R |
probably damaging |
Het |
| Cpne2 |
A |
G |
8: 95,280,040 (GRCm39) |
D153G |
probably benign |
Het |
| Cryzl1 |
T |
C |
16: 91,489,251 (GRCm39) |
S205G |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,594,251 (GRCm39) |
A5T |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,395,669 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
G |
A |
9: 104,067,590 (GRCm39) |
P1190S |
probably benign |
Het |
| Fbxw7 |
T |
A |
3: 84,881,859 (GRCm39) |
V526E |
|
Het |
| Fig4 |
C |
A |
10: 41,139,097 (GRCm39) |
G369C |
probably damaging |
Het |
| Gabra1 |
C |
T |
11: 42,026,315 (GRCm39) |
A326T |
probably damaging |
Het |
| Gbe1 |
G |
A |
16: 70,284,964 (GRCm39) |
G429S |
probably benign |
Het |
| Gtf3c5 |
A |
T |
2: 28,460,506 (GRCm39) |
H364Q |
probably benign |
Het |
| Hcfc2 |
T |
A |
10: 82,574,201 (GRCm39) |
I125N |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,453,902 (GRCm39) |
D53E |
probably benign |
Het |
| Ift56 |
T |
A |
6: 38,382,880 (GRCm39) |
H338Q |
probably damaging |
Het |
| Il18 |
A |
T |
9: 50,492,818 (GRCm39) |
D128V |
possibly damaging |
Het |
| Intu |
T |
A |
3: 40,608,202 (GRCm39) |
S71R |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,775,940 (GRCm39) |
E206G |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,571,343 (GRCm39) |
S179T |
probably damaging |
Het |
| Mcub |
A |
G |
3: 129,727,328 (GRCm39) |
F93L |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 67,267,803 (GRCm39) |
Y5C |
unknown |
Het |
| Naip1 |
C |
A |
13: 100,565,721 (GRCm39) |
V354L |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,167 (GRCm39) |
V1023A |
probably benign |
Het |
| Ndufaf1 |
A |
G |
2: 119,490,568 (GRCm39) |
L166P |
probably damaging |
Het |
| Or4c12 |
A |
G |
2: 89,774,024 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,636 (GRCm39) |
I102T |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,689,127 (GRCm39) |
|
probably null |
Het |
| Otulin |
AT |
ATT |
15: 27,606,404 (GRCm39) |
|
probably null |
Het |
| Phf11b |
A |
C |
14: 59,576,146 (GRCm39) |
L30R |
probably damaging |
Het |
| Prdm13 |
G |
T |
4: 21,679,327 (GRCm39) |
H388N |
unknown |
Het |
| Pwwp2b |
T |
C |
7: 138,835,099 (GRCm39) |
V180A |
probably damaging |
Het |
| Reep4 |
T |
A |
14: 70,783,951 (GRCm39) |
S23T |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,425,378 (GRCm39) |
L1161Q |
probably damaging |
Het |
| Scgb1b3 |
G |
A |
7: 31,075,404 (GRCm39) |
|
probably null |
Het |
| Scn10a |
G |
T |
9: 119,499,455 (GRCm39) |
N279K |
probably benign |
Het |
| Smurf2 |
A |
G |
11: 106,715,578 (GRCm39) |
L643S |
probably damaging |
Het |
| Sox12 |
G |
A |
2: 152,239,192 (GRCm39) |
P143S |
unknown |
Het |
| Specc1 |
C |
T |
11: 62,009,501 (GRCm39) |
T339I |
possibly damaging |
Het |
| Tas2r139 |
T |
C |
6: 42,118,720 (GRCm39) |
V284A |
probably benign |
Het |
| Thumpd3 |
T |
A |
6: 113,040,107 (GRCm39) |
C330* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,537,298 (GRCm39) |
S34877P |
possibly damaging |
Het |
| Zfp568 |
T |
C |
7: 29,697,629 (GRCm39) |
S104P |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,912,910 (GRCm39) |
H50Y |
possibly 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 |
|
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 |
|
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'- TCTGCTCTGCCAATATGTGC -3'
(R):5'- TCCACCAGTTCATGAAGGAAG -3'
Sequencing Primer
(F):5'- AATATGTGCCCTCCCGGTTTACAG -3'
(R):5'- CACCAGTTCATGAAGGAAGTATATGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation