Incidental Mutation 'R0541:Nckap5'
ID |
49887 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nckap5
|
Ensembl Gene |
ENSMUSG00000049690 |
Gene Name |
NCK-associated protein 5 |
Synonyms |
LOC380609, D130011D22Rik, E030049G20Rik |
MMRRC Submission |
038733-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0541 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
125841373-126758529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 126623459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 11
(D11E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094609]
[ENSMUST00000112583]
[ENSMUST00000160693]
[ENSMUST00000162646]
|
AlphaFold |
E9QAE1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094609
AA Change: D11E
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000092192 Gene: ENSMUSG00000049690 AA Change: D11E
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
93 |
N/A |
INTRINSIC |
Pfam:NCKAP5
|
113 |
364 |
3.6e-36 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112583
AA Change: D11E
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108202 Gene: ENSMUSG00000049690 AA Change: D11E
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
93 |
N/A |
INTRINSIC |
coiled coil region
|
176 |
254 |
N/A |
INTRINSIC |
low complexity region
|
301 |
324 |
N/A |
INTRINSIC |
low complexity region
|
453 |
464 |
N/A |
INTRINSIC |
low complexity region
|
887 |
903 |
N/A |
INTRINSIC |
low complexity region
|
1082 |
1103 |
N/A |
INTRINSIC |
low complexity region
|
1202 |
1217 |
N/A |
INTRINSIC |
low complexity region
|
1313 |
1332 |
N/A |
INTRINSIC |
Pfam:NCKAP5
|
1431 |
1733 |
5.3e-119 |
PFAM |
low complexity region
|
1860 |
1874 |
N/A |
INTRINSIC |
low complexity region
|
1889 |
1903 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160693
AA Change: D11E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123975 Gene: ENSMUSG00000049690 AA Change: D11E
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
93 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162646
AA Change: D11E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123936 Gene: ENSMUSG00000049690 AA Change: D11E
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
93 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162647
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162664
|
Meta Mutation Damage Score |
0.0749 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
96% (64/67) |
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,740,872 (GRCm39) |
M115V |
probably benign |
Het |
4933415A04Rik |
TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT |
11: 43,478,227 (GRCm39) |
|
probably null |
Het |
Abca7 |
C |
T |
10: 79,843,185 (GRCm39) |
A1220V |
probably benign |
Het |
Adamts19 |
G |
A |
18: 59,060,372 (GRCm39) |
|
probably null |
Het |
Agbl1 |
G |
A |
7: 76,058,993 (GRCm39) |
V194M |
probably benign |
Het |
Arhgap20 |
G |
T |
9: 51,760,963 (GRCm39) |
S902I |
probably damaging |
Het |
Atp11b |
T |
G |
3: 35,861,093 (GRCm39) |
D193E |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,535,430 (GRCm39) |
|
probably benign |
Het |
C2cd2 |
T |
C |
16: 97,723,496 (GRCm39) |
E7G |
possibly damaging |
Het |
Camta2 |
A |
G |
11: 70,572,447 (GRCm39) |
L259P |
probably benign |
Het |
Ccni |
T |
C |
5: 93,335,563 (GRCm39) |
N192D |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,558,535 (GRCm39) |
I946T |
possibly damaging |
Het |
Chil3 |
T |
C |
3: 106,068,548 (GRCm39) |
|
probably null |
Het |
Cntn5 |
A |
G |
9: 9,673,407 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
C |
T |
16: 30,078,169 (GRCm39) |
G511S |
possibly damaging |
Het |
Dagla |
C |
A |
19: 10,232,170 (GRCm39) |
|
probably null |
Het |
Dcc |
T |
C |
18: 71,392,086 (GRCm39) |
N1440S |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,907,474 (GRCm39) |
N1069K |
probably benign |
Het |
Edc4 |
A |
G |
8: 106,616,060 (GRCm39) |
T812A |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,747,471 (GRCm39) |
I238V |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,852,882 (GRCm39) |
T1288A |
unknown |
Het |
Fastkd1 |
A |
C |
2: 69,532,750 (GRCm39) |
L539R |
probably damaging |
Het |
Fbln7 |
G |
A |
2: 128,719,454 (GRCm39) |
|
probably benign |
Het |
Fbxo39 |
A |
G |
11: 72,209,297 (GRCm39) |
I386V |
probably benign |
Het |
Gm17430 |
T |
C |
18: 9,726,267 (GRCm39) |
K135R |
probably damaging |
Het |
Gm3646 |
T |
A |
1: 39,843,483 (GRCm39) |
T8S |
unknown |
Het |
Gtsf1 |
A |
T |
15: 103,329,619 (GRCm39) |
V100E |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,876,618 (GRCm39) |
F1292S |
possibly damaging |
Het |
Igf2bp3 |
G |
A |
6: 49,084,401 (GRCm39) |
|
probably benign |
Het |
Ip6k2 |
T |
G |
9: 108,681,826 (GRCm39) |
D252E |
probably damaging |
Het |
Iqck |
T |
A |
7: 118,514,817 (GRCm39) |
L232Q |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,806,001 (GRCm39) |
V186A |
probably damaging |
Het |
Klhl6 |
T |
A |
16: 19,768,197 (GRCm39) |
|
probably null |
Het |
Lao1 |
C |
T |
4: 118,820,999 (GRCm39) |
T75I |
probably benign |
Het |
Lyst |
T |
C |
13: 13,855,878 (GRCm39) |
F2400L |
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,780,997 (GRCm39) |
S388T |
possibly damaging |
Het |
Mmp11 |
G |
T |
10: 75,762,767 (GRCm39) |
H229N |
probably damaging |
Het |
Myh7 |
T |
G |
14: 55,212,158 (GRCm39) |
I1529L |
probably benign |
Het |
Ncoa1 |
A |
T |
12: 4,373,033 (GRCm39) |
F123I |
probably damaging |
Het |
Nelfb |
A |
T |
2: 25,093,992 (GRCm39) |
D385E |
probably benign |
Het |
Obscn |
C |
T |
11: 58,972,810 (GRCm39) |
V2288M |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,154 (GRCm39) |
H56R |
probably damaging |
Het |
Or4d6 |
C |
T |
19: 12,086,884 (GRCm39) |
V9M |
possibly damaging |
Het |
Or52x1 |
A |
T |
7: 104,853,367 (GRCm39) |
M61K |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
Otog |
T |
A |
7: 45,918,673 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
A |
G |
14: 54,605,646 (GRCm39) |
E375G |
possibly damaging |
Het |
Pan2 |
T |
A |
10: 128,144,091 (GRCm39) |
I129K |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,426,616 (GRCm39) |
I919M |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,885,305 (GRCm39) |
Y174H |
probably damaging |
Het |
Polr3b |
T |
C |
10: 84,473,928 (GRCm39) |
F169S |
probably damaging |
Het |
Rab10 |
T |
C |
12: 3,314,743 (GRCm39) |
D45G |
probably damaging |
Het |
Reln |
A |
G |
5: 22,185,107 (GRCm39) |
S1537P |
possibly damaging |
Het |
Sema6d |
T |
A |
2: 124,507,197 (GRCm39) |
S1045T |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,733,229 (GRCm39) |
I589F |
probably damaging |
Het |
Stmn4 |
A |
C |
14: 66,595,388 (GRCm39) |
I165L |
probably benign |
Het |
Stx5a |
T |
C |
19: 8,727,301 (GRCm39) |
M177T |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,491,486 (GRCm39) |
|
probably null |
Het |
Tmem192 |
T |
C |
8: 65,416,912 (GRCm39) |
Y168H |
probably damaging |
Het |
Ttc21a |
C |
T |
9: 119,785,892 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,446,663 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
G |
11: 87,972,403 (GRCm39) |
M255V |
possibly damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,816,786 (GRCm39) |
F265S |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,681,941 (GRCm39) |
S1021P |
probably benign |
Het |
Wfdc16 |
T |
C |
2: 164,477,773 (GRCm39) |
E92G |
possibly damaging |
Het |
Zkscan2 |
T |
C |
7: 123,079,423 (GRCm39) |
T845A |
possibly damaging |
Het |
|
Other mutations in Nckap5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00833:Nckap5
|
APN |
1 |
125,954,889 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00956:Nckap5
|
APN |
1 |
125,952,755 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01414:Nckap5
|
APN |
1 |
126,456,450 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01482:Nckap5
|
APN |
1 |
125,950,897 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01508:Nckap5
|
APN |
1 |
125,953,309 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02071:Nckap5
|
APN |
1 |
125,909,305 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02129:Nckap5
|
APN |
1 |
125,955,432 (GRCm39) |
nonsense |
probably null |
|
IGL02821:Nckap5
|
APN |
1 |
125,955,553 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03174:Nckap5
|
APN |
1 |
125,909,383 (GRCm39) |
missense |
probably damaging |
1.00 |
F5493:Nckap5
|
UTSW |
1 |
125,953,564 (GRCm39) |
missense |
probably benign |
|
G5030:Nckap5
|
UTSW |
1 |
125,953,591 (GRCm39) |
missense |
probably damaging |
0.96 |
R0033:Nckap5
|
UTSW |
1 |
125,867,979 (GRCm39) |
intron |
probably benign |
|
R0164:Nckap5
|
UTSW |
1 |
125,952,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0164:Nckap5
|
UTSW |
1 |
125,952,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0349:Nckap5
|
UTSW |
1 |
125,954,171 (GRCm39) |
missense |
probably benign |
|
R0482:Nckap5
|
UTSW |
1 |
125,954,102 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0508:Nckap5
|
UTSW |
1 |
125,909,121 (GRCm39) |
splice site |
probably null |
|
R0609:Nckap5
|
UTSW |
1 |
125,955,025 (GRCm39) |
nonsense |
probably null |
|
R0701:Nckap5
|
UTSW |
1 |
125,953,094 (GRCm39) |
missense |
probably benign |
0.06 |
R0782:Nckap5
|
UTSW |
1 |
125,909,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R1389:Nckap5
|
UTSW |
1 |
125,954,447 (GRCm39) |
missense |
probably damaging |
0.99 |
R1401:Nckap5
|
UTSW |
1 |
125,942,398 (GRCm39) |
splice site |
probably benign |
|
R1436:Nckap5
|
UTSW |
1 |
125,953,798 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1506:Nckap5
|
UTSW |
1 |
125,953,650 (GRCm39) |
nonsense |
probably null |
|
R1528:Nckap5
|
UTSW |
1 |
125,952,659 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1942:Nckap5
|
UTSW |
1 |
125,952,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Nckap5
|
UTSW |
1 |
125,942,367 (GRCm39) |
missense |
probably damaging |
0.99 |
R2055:Nckap5
|
UTSW |
1 |
125,954,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R2105:Nckap5
|
UTSW |
1 |
125,954,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R2214:Nckap5
|
UTSW |
1 |
125,953,487 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2311:Nckap5
|
UTSW |
1 |
126,456,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R2403:Nckap5
|
UTSW |
1 |
125,955,146 (GRCm39) |
missense |
probably benign |
0.18 |
R2430:Nckap5
|
UTSW |
1 |
125,842,494 (GRCm39) |
missense |
probably damaging |
0.99 |
R2914:Nckap5
|
UTSW |
1 |
125,954,274 (GRCm39) |
splice site |
probably null |
|
R3782:Nckap5
|
UTSW |
1 |
125,952,811 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4133:Nckap5
|
UTSW |
1 |
126,150,443 (GRCm39) |
missense |
probably benign |
0.13 |
R4249:Nckap5
|
UTSW |
1 |
125,955,376 (GRCm39) |
missense |
probably benign |
0.01 |
R4448:Nckap5
|
UTSW |
1 |
125,953,463 (GRCm39) |
nonsense |
probably null |
|
R4456:Nckap5
|
UTSW |
1 |
125,842,472 (GRCm39) |
unclassified |
probably benign |
|
R4682:Nckap5
|
UTSW |
1 |
126,030,279 (GRCm39) |
critical splice donor site |
probably null |
|
R4817:Nckap5
|
UTSW |
1 |
125,954,952 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4907:Nckap5
|
UTSW |
1 |
125,953,889 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4908:Nckap5
|
UTSW |
1 |
125,955,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R4924:Nckap5
|
UTSW |
1 |
125,954,765 (GRCm39) |
nonsense |
probably null |
|
R4926:Nckap5
|
UTSW |
1 |
126,456,378 (GRCm39) |
intron |
probably benign |
|
R5032:Nckap5
|
UTSW |
1 |
125,904,786 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5133:Nckap5
|
UTSW |
1 |
125,961,697 (GRCm39) |
missense |
probably benign |
0.01 |
R5197:Nckap5
|
UTSW |
1 |
126,150,410 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5238:Nckap5
|
UTSW |
1 |
125,955,461 (GRCm39) |
missense |
probably damaging |
0.96 |
R5257:Nckap5
|
UTSW |
1 |
125,952,245 (GRCm39) |
missense |
probably damaging |
0.99 |
R5277:Nckap5
|
UTSW |
1 |
125,954,277 (GRCm39) |
nonsense |
probably null |
|
R5512:Nckap5
|
UTSW |
1 |
125,955,481 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5700:Nckap5
|
UTSW |
1 |
125,904,662 (GRCm39) |
critical splice donor site |
probably null |
|
R5789:Nckap5
|
UTSW |
1 |
125,955,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R6029:Nckap5
|
UTSW |
1 |
125,953,523 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6249:Nckap5
|
UTSW |
1 |
125,952,667 (GRCm39) |
missense |
probably benign |
|
R6292:Nckap5
|
UTSW |
1 |
125,842,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R6521:Nckap5
|
UTSW |
1 |
126,309,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Nckap5
|
UTSW |
1 |
125,950,931 (GRCm39) |
missense |
probably benign |
0.03 |
R7017:Nckap5
|
UTSW |
1 |
126,030,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R7018:Nckap5
|
UTSW |
1 |
125,952,785 (GRCm39) |
missense |
probably damaging |
0.99 |
R7054:Nckap5
|
UTSW |
1 |
126,186,449 (GRCm39) |
splice site |
probably null |
|
R7204:Nckap5
|
UTSW |
1 |
125,954,104 (GRCm39) |
missense |
probably benign |
|
R7336:Nckap5
|
UTSW |
1 |
125,953,786 (GRCm39) |
missense |
probably benign |
0.00 |
R7544:Nckap5
|
UTSW |
1 |
125,953,948 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7590:Nckap5
|
UTSW |
1 |
125,954,270 (GRCm39) |
missense |
probably benign |
0.00 |
R7684:Nckap5
|
UTSW |
1 |
125,954,594 (GRCm39) |
missense |
probably benign |
0.00 |
R7749:Nckap5
|
UTSW |
1 |
125,952,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Nckap5
|
UTSW |
1 |
125,954,581 (GRCm39) |
missense |
probably benign |
0.00 |
R7813:Nckap5
|
UTSW |
1 |
125,953,163 (GRCm39) |
missense |
probably benign |
0.10 |
R7970:Nckap5
|
UTSW |
1 |
125,952,758 (GRCm39) |
nonsense |
probably null |
|
R7992:Nckap5
|
UTSW |
1 |
125,954,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R8278:Nckap5
|
UTSW |
1 |
125,955,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R8373:Nckap5
|
UTSW |
1 |
125,954,032 (GRCm39) |
missense |
probably benign |
0.02 |
R8414:Nckap5
|
UTSW |
1 |
125,942,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Nckap5
|
UTSW |
1 |
125,954,279 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8845:Nckap5
|
UTSW |
1 |
125,909,423 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9016:Nckap5
|
UTSW |
1 |
126,623,491 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R9209:Nckap5
|
UTSW |
1 |
125,867,928 (GRCm39) |
missense |
unknown |
|
R9214:Nckap5
|
UTSW |
1 |
125,942,376 (GRCm39) |
missense |
probably benign |
0.01 |
R9300:Nckap5
|
UTSW |
1 |
125,909,423 (GRCm39) |
nonsense |
probably null |
|
R9464:Nckap5
|
UTSW |
1 |
125,952,494 (GRCm39) |
missense |
probably benign |
0.00 |
R9572:Nckap5
|
UTSW |
1 |
125,955,454 (GRCm39) |
missense |
probably benign |
0.41 |
R9721:Nckap5
|
UTSW |
1 |
125,955,017 (GRCm39) |
missense |
probably damaging |
0.98 |
R9748:Nckap5
|
UTSW |
1 |
125,953,939 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Nckap5
|
UTSW |
1 |
125,952,569 (GRCm39) |
missense |
possibly damaging |
0.76 |
Z1176:Nckap5
|
UTSW |
1 |
126,456,418 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Nckap5
|
UTSW |
1 |
126,150,396 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACCTAAGTCCCAAGGGATGTTGC -3'
(R):5'- GAAGTCCTGTGTGCTGAGAAGTCTG -3'
Sequencing Primer
(F):5'- CCCAAGGGATGTTGCTTAATG -3'
(R):5'- CTGAGAAGTCTGGTTTTAGACTCAC -3'
|
Posted On |
2013-06-12 |