Incidental Mutation 'R1192:Nkiras2'
| ID |
100901 |
| 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 |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
129 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100510070-100518433 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4740 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 100516806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017981]
[ENSMUST00000051947]
[ENSMUST00000103119]
[ENSMUST00000107376]
[ENSMUST00000142993]
|
| AlphaFold |
Q9CR56 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017981
|
| SMART Domains |
Protein: ENSMUSP00000017981
Gene: ENSMUSG00000017837
| 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 benign
Transcript: ENSMUST00000051947
|
| SMART Domains |
Protein: ENSMUSP00000059559
Gene: ENSMUSG00000017837
| 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 null
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 benign
Transcript: ENSMUST00000107376
|
| SMART Domains |
Protein: ENSMUSP00000102999
Gene: ENSMUSG00000017837
| 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 benign
Transcript: ENSMUST00000142993
|
| SMART Domains |
Protein: ENSMUSP00000114456
Gene: ENSMUSG00000017837
| 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: ENSMUST00000148560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155840
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151589
|
| SMART Domains |
Protein: ENSMUSP00000119259
Gene: ENSMUSG00000014198
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
40 |
74 |
6.04e-3 |
SMART |
|
ZnF_C2H2
|
43 |
67 |
6.31e1 |
SMART |
|
low complexity region
|
79 |
104 |
N/A |
INTRINSIC |
|
ZnF_U1
|
152 |
188 |
4.36e-2 |
SMART |
|
ZnF_C2H2
|
157 |
179 |
1.51e0 |
SMART |
|
low complexity region
|
205 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
241 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
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 |
|
|
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 |
|
R6427:Nkiras2
|
UTSW |
11 |
100,515,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACATGAAGCGCGGTCTAGTTTTCC -3'
(R):5'- AGGGCAGCTATTCAGCCATCCAAG -3'
Sequencing Primer
(F):5'- GCGGTCTAGTTTTCCTTCTCTG -3'
(R):5'- AAGGCAGACTTGCTCTGCG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation