Incidental Mutation 'R0928:Ninl'
| ID |
80615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ninl
|
| Ensembl Gene |
ENSMUSG00000068115 |
| Gene Name |
ninein-like |
| Synonyms |
LOC381387, LOC381388, 4930519N13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0928 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
150934519-151039382 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150963475 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 396
(V396E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000150595]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109896
AA Change: V396E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: V396E
| 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 |
noncoding transcript
Transcript: ENSMUST00000149268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149979
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150595
AA Change: V95E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117001
Gene: ENSMUSG00000068115
AA Change: V95E
| 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: 99.2%
- 3x: 98.1%
- 10x: 93.0%
- 20x: 75.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010300C02Rik |
T |
C |
1: 37,624,582 |
D745G |
possibly damaging |
Het |
| 4931406P16Rik |
A |
T |
7: 34,248,246 |
|
probably null |
Het |
| Abca12 |
T |
A |
1: 71,349,174 |
D179V |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,389,985 |
|
probably null |
Het |
| Adad1 |
G |
A |
3: 37,076,740 |
|
probably null |
Het |
| Apobec4 |
T |
C |
1: 152,756,277 |
Y19H |
probably damaging |
Het |
| Bco2 |
T |
A |
9: 50,545,931 |
T104S |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,973,502 |
V659A |
probably benign |
Het |
| Ccdc144b |
A |
C |
3: 36,025,366 |
N258K |
possibly damaging |
Het |
| Ccs |
T |
C |
19: 4,825,960 |
E184G |
probably damaging |
Het |
| Cfap70 |
T |
G |
14: 20,443,919 |
K97N |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,488,227 |
I313V |
probably benign |
Het |
| Dach1 |
T |
C |
14: 97,915,832 |
S467G |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,045,562 |
S2122P |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 120,030,051 |
D1427V |
probably damaging |
Het |
| Dnaic1 |
T |
C |
4: 41,602,566 |
F97L |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,110,249 |
|
probably null |
Het |
| En2 |
A |
T |
5: 28,170,331 |
K291* |
probably null |
Het |
| Eps15 |
T |
C |
4: 109,312,963 |
V154A |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,184,703 |
I183V |
probably benign |
Het |
| Fcrlb |
A |
T |
1: 170,907,940 |
V255D |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,437,084 |
E52V |
probably damaging |
Het |
| Gm8251 |
C |
A |
1: 44,057,228 |
S1570I |
possibly damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,670,885 |
Y152C |
probably damaging |
Het |
| Hao1 |
C |
A |
2: 134,505,616 |
L256F |
possibly damaging |
Het |
| Helz |
T |
A |
11: 107,626,693 |
I685K |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 |
|
probably null |
Het |
| Izumo2 |
A |
T |
7: 44,715,423 |
I171F |
possibly damaging |
Het |
| Krt83 |
C |
A |
15: 101,491,280 |
C57F |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 120,015,368 |
H400R |
probably benign |
Het |
| Megf6 |
T |
A |
4: 154,177,047 |
V43E |
probably damaging |
Het |
| Mut |
T |
C |
17: 40,937,283 |
I67T |
probably benign |
Het |
| Nvl |
A |
T |
1: 181,093,902 |
V844E |
probably benign |
Het |
| Olfr11 |
C |
T |
13: 21,638,956 |
C189Y |
probably damaging |
Het |
| P2rx3 |
A |
T |
2: 85,035,298 |
M1K |
probably null |
Het |
| Pabpn1l |
T |
C |
8: 122,622,619 |
T20A |
probably benign |
Het |
| Ppp3r2 |
C |
A |
4: 49,681,439 |
|
probably null |
Het |
| Prmt6 |
C |
T |
3: 110,250,682 |
G97D |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 77,581,176 |
V823A |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,244,601 |
D79E |
possibly damaging |
Het |
| Slc17a8 |
T |
A |
10: 89,598,683 |
H194L |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,104,848 |
I293F |
possibly damaging |
Het |
| Tcl1b4 |
A |
T |
12: 105,202,606 |
H43L |
probably benign |
Het |
| Tm9sf1 |
T |
C |
14: 55,636,457 |
D528G |
probably damaging |
Het |
| Tpbpb |
C |
T |
13: 60,902,175 |
V47I |
probably benign |
Het |
| Ttc37 |
T |
G |
13: 76,113,592 |
L142W |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,907,532 |
|
probably benign |
Het |
| Usp28 |
T |
G |
9: 49,030,891 |
S341A |
possibly damaging |
Het |
| Vwa5a |
T |
C |
9: 38,728,007 |
Y345H |
probably damaging |
Het |
| Wdr11 |
C |
A |
7: 129,606,653 |
D377E |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 30,101,763 |
|
probably null |
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 |
|
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 |
|
R3950:Ninl
|
UTSW |
2 |
150,952,488 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
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'- CAACTTCCTCTGGCTCCAGAAAGAC -3'
(R):5'- GAATAAAGTCCCAGCCTTCCTGGTG -3'
Sequencing Primer
(F):5'- CCCTGGGTCTCCAAGAATG -3'
(R):5'- CTGGGATCTGGTTTATCTTACTGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation