Incidental Mutation 'R6427:Nkiras2'
| ID |
518368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkiras2
|
| Ensembl Gene |
ENSMUSG00000017837 |
| Gene Name |
NFKB inhibitor interacting Ras-like protein 2 |
| Synonyms |
KBRAS2, 4930527H08Rik, 2410003M04Rik |
| MMRRC Submission |
044566-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6427 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100510070-100518433 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100515861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 63
(R63W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014339]
[ENSMUST00000017981]
[ENSMUST00000051947]
[ENSMUST00000103119]
[ENSMUST00000107376]
[ENSMUST00000142993]
|
| AlphaFold |
Q9CR56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014339
|
| SMART Domains |
Protein: ENSMUSP00000014339
Gene: ENSMUSG00000014195
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
28 |
61 |
3.39e-7 |
SMART |
|
TPR
|
62 |
95 |
1.11e-2 |
SMART |
|
TPR
|
96 |
129 |
4.09e-1 |
SMART |
|
Blast:TPR
|
142 |
175 |
4e-13 |
BLAST |
|
Blast:TPR
|
176 |
209 |
1e-13 |
BLAST |
|
TPR
|
210 |
243 |
2.29e-4 |
SMART |
|
TPR
|
256 |
289 |
1.11e-2 |
SMART |
|
TPR
|
294 |
327 |
2.87e-5 |
SMART |
|
TPR
|
328 |
361 |
1.83e-3 |
SMART |
|
DnaJ
|
380 |
443 |
2.93e-29 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017981
AA Change: R63W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000017981
Gene: ENSMUSG00000017837
AA Change: R63W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
168 |
4.3e-9 |
PFAM |
|
Pfam:Roc
|
6 |
124 |
2.2e-13 |
PFAM |
|
Pfam:MMR_HSR1
|
6 |
165 |
3.1e-6 |
PFAM |
|
Pfam:Ras
|
6 |
170 |
2.9e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051947
AA Change: R63W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059559
Gene: ENSMUSG00000017837
AA Change: R63W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
168 |
5.6e-9 |
PFAM |
|
Pfam:Miro
|
6 |
123 |
2.2e-21 |
PFAM |
|
Pfam:Ras
|
6 |
170 |
4.5e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103119
|
| SMART Domains |
Protein: ENSMUSP00000099408
Gene: ENSMUSG00000014198
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
ZnF_U1
|
72 |
108 |
4.36e-2 |
SMART |
|
ZnF_C2H2
|
77 |
99 |
1.51e0 |
SMART |
|
low complexity region
|
125 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
200 |
N/A |
INTRINSIC |
|
ZnF_U1
|
225 |
259 |
5.72e-4 |
SMART |
|
ZnF_C2H2
|
228 |
252 |
7.11e0 |
SMART |
|
ZnF_U1
|
294 |
328 |
7.44e-3 |
SMART |
|
ZnF_C2H2
|
297 |
321 |
4.34e0 |
SMART |
|
low complexity region
|
347 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107376
AA Change: R63W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102999
Gene: ENSMUSG00000017837
AA Change: R63W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
168 |
5.6e-9 |
PFAM |
|
Pfam:Miro
|
6 |
123 |
2.2e-21 |
PFAM |
|
Pfam:Ras
|
6 |
170 |
4.5e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127547
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142993
AA Change: R63W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114456
Gene: ENSMUSG00000017837
AA Change: R63W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
151 |
1.3e-8 |
PFAM |
|
Pfam:Miro
|
6 |
123 |
1.4e-21 |
PFAM |
|
Pfam:MMR_HSR1
|
6 |
145 |
4.5e-6 |
PFAM |
|
Pfam:Ras
|
6 |
153 |
2.9e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148560
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Ankmy2 |
A |
G |
12: 36,237,710 (GRCm39) |
S270G |
possibly damaging |
Het |
| Anxa2 |
T |
A |
9: 69,383,431 (GRCm39) |
|
probably null |
Het |
| Arid1a |
G |
T |
4: 133,408,835 (GRCm39) |
P1891T |
unknown |
Het |
| Atn1 |
G |
T |
6: 124,723,139 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,356,157 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
C |
14: 59,743,719 (GRCm39) |
K94N |
possibly damaging |
Het |
| Cacna2d2 |
G |
T |
9: 107,392,641 (GRCm39) |
M528I |
possibly damaging |
Het |
| Ccnc |
T |
A |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,464,596 (GRCm39) |
L1268P |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,721,512 (GRCm39) |
T774I |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 96,024,387 (GRCm39) |
|
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,412,156 (GRCm39) |
F209L |
probably damaging |
Het |
| Cyp2j7 |
C |
A |
4: 96,115,904 (GRCm39) |
D181Y |
probably damaging |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Ddr1 |
C |
A |
17: 35,998,114 (GRCm39) |
R477L |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,310 (GRCm39) |
T22A |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,728,081 (GRCm39) |
D294G |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,241,439 (GRCm39) |
I569V |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,573,227 (GRCm39) |
R2141S |
possibly damaging |
Het |
| Kat6b |
T |
C |
14: 21,567,480 (GRCm39) |
S180P |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,631,454 (GRCm39) |
E655K |
possibly damaging |
Het |
| Mro |
T |
A |
18: 74,005,104 (GRCm39) |
L69Q |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,381,049 (GRCm39) |
L581H |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,058 (GRCm39) |
S182T |
possibly damaging |
Het |
| Obi1 |
T |
C |
14: 104,717,662 (GRCm39) |
K237R |
possibly damaging |
Het |
| Or52b4i |
A |
T |
7: 102,191,895 (GRCm39) |
I251F |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,395,126 (GRCm39) |
S553P |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,086,786 (GRCm39) |
I323T |
probably benign |
Het |
| Polr1b |
G |
T |
2: 128,965,181 (GRCm39) |
A756S |
probably damaging |
Het |
| Prex2 |
A |
T |
1: 11,252,255 (GRCm39) |
Y1100F |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,242 (GRCm39) |
S328T |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,774,998 (GRCm39) |
T52A |
probably damaging |
Het |
| Taf3 |
A |
T |
2: 9,956,164 (GRCm39) |
F515I |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,176,966 (GRCm39) |
|
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,120,947 (GRCm39) |
Y322C |
possibly damaging |
Het |
| Zfp735 |
G |
A |
11: 73,581,140 (GRCm39) |
C59Y |
possibly damaging |
Het |
| Zfp759 |
A |
G |
13: 67,287,162 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nkiras2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Nkiras2
|
APN |
11 |
100,515,808 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03080:Nkiras2
|
APN |
11 |
100,515,105 (GRCm39) |
splice site |
probably null |
|
|
R0543:Nkiras2
|
UTSW |
11 |
100,515,018 (GRCm39) |
unclassified |
probably benign |
|
|
R0733:Nkiras2
|
UTSW |
11 |
100,515,758 (GRCm39) |
splice site |
probably null |
|
|
R1192:Nkiras2
|
UTSW |
11 |
100,516,806 (GRCm39) |
splice site |
probably null |
|
|
R1698:Nkiras2
|
UTSW |
11 |
100,515,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Nkiras2
|
UTSW |
11 |
100,515,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Nkiras2
|
UTSW |
11 |
100,516,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7961:Nkiras2
|
UTSW |
11 |
100,510,628 (GRCm39) |
unclassified |
probably benign |
|
|
R8022:Nkiras2
|
UTSW |
11 |
100,515,113 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8949:Nkiras2
|
UTSW |
11 |
100,510,158 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTGATAAAGACATGACACTCG -3'
(R):5'- AGCAGAAGTCTAGGACATGTAC -3'
Sequencing Primer
(F):5'- AAGTCTGGTCTCTCCCGAG -3'
(R):5'- AGAAGTCTAGGACATGTACCTCCTTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation