Incidental Mutation 'IGL00518:Nkiras1'
| ID |
4229 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nkiras1
|
| Ensembl Gene |
ENSMUSG00000021772 |
| Gene Name |
NFKB inhibitor interacting Ras-like protein 1 |
| Synonyms |
2400004O09Rik, KBRAS1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL00518
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
4185693-4198560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 18278435 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 50
(F50V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022294]
[ENSMUST00000022296]
[ENSMUST00000132374]
[ENSMUST00000133460]
[ENSMUST00000225612]
|
| AlphaFold |
Q8CEC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022294
|
| SMART Domains |
Protein: ENSMUSP00000022294
Gene: ENSMUSG00000021772
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1i2ma_
|
5 |
39 |
1e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022296
|
| SMART Domains |
Protein: ENSMUSP00000022296
Gene: ENSMUSG00000021774
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
UBCc
|
50 |
193 |
2.41e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132374
AA Change: F76V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000121496
Gene: ENSMUSG00000021772
AA Change: F76V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
168 |
7.8e-11 |
PFAM |
|
Pfam:Roc
|
6 |
124 |
1.6e-13 |
PFAM |
|
Pfam:Ras
|
6 |
170 |
5.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133460
AA Change: F50V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000122235
Gene: ENSMUSG00000021772
AA Change: F50V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
4 |
115 |
1.7e-7 |
PFAM |
|
Pfam:Ras
|
4 |
118 |
1.3e-21 |
PFAM |
|
Pfam:Miro
|
5 |
97 |
1.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225612
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
C |
1: 63,610,113 (GRCm39) |
V705A |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,320,536 (GRCm39) |
L905F |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,464,947 (GRCm39) |
K627N |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,928,828 (GRCm39) |
C782R |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,026,401 (GRCm39) |
|
probably null |
Het |
| Esyt1 |
C |
T |
10: 128,357,743 (GRCm39) |
D243N |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,823,272 (GRCm39) |
|
probably benign |
Het |
| Klk1b4 |
T |
C |
7: 43,860,456 (GRCm39) |
|
probably benign |
Het |
| Lce1i |
T |
A |
3: 92,684,911 (GRCm39) |
R88S |
unknown |
Het |
| Lrrc37a |
G |
T |
11: 103,391,177 (GRCm39) |
P1416Q |
probably benign |
Het |
| Mcm6 |
C |
A |
1: 128,272,120 (GRCm39) |
A426S |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,393,244 (GRCm39) |
V3106I |
probably damaging |
Het |
| Pik3r6 |
A |
T |
11: 68,425,077 (GRCm39) |
I457F |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,160,315 (GRCm39) |
K455E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,848,978 (GRCm39) |
|
probably benign |
Het |
| Serpinb9b |
T |
A |
13: 33,223,553 (GRCm39) |
F248L |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,076,441 (GRCm39) |
M733I |
probably benign |
Het |
| Supt20 |
T |
C |
3: 54,622,590 (GRCm39) |
S446P |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,487,416 (GRCm39) |
M530T |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,909,647 (GRCm39) |
Y150* |
probably null |
Het |
| Trmt9b |
C |
T |
8: 36,979,453 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,733,726 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,303,922 (GRCm39) |
Y138H |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,542,587 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
T |
A |
11: 50,961,381 (GRCm39) |
S531T |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,281 (GRCm39) |
E363G |
probably benign |
Het |
|
| Other mutations in Nkiras1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01986:Nkiras1
|
APN |
14 |
18,280,071 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02593:Nkiras1
|
APN |
14 |
18,278,475 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL03410:Nkiras1
|
APN |
14 |
18,280,073 (GRCm38) |
missense |
probably benign |
|
|
R0230:Nkiras1
|
UTSW |
14 |
18,280,185 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0508:Nkiras1
|
UTSW |
14 |
18,278,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1835:Nkiras1
|
UTSW |
14 |
18,276,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2400:Nkiras1
|
UTSW |
14 |
18,280,011 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4789:Nkiras1
|
UTSW |
14 |
18,276,935 (GRCm38) |
start gained |
probably benign |
|
|
R7232:Nkiras1
|
UTSW |
14 |
18,276,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8201:Nkiras1
|
UTSW |
14 |
18,276,908 (GRCm38) |
start gained |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation