Incidental Mutation 'R9016:Nckap5'
ID |
685972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nckap5
|
Ensembl Gene |
ENSMUSG00000049690 |
Gene Name |
NCK-associated protein 5 |
Synonyms |
LOC380609, D130011D22Rik, E030049G20Rik |
MMRRC Submission |
068846-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9016 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
125841373-126758529 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 126623491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094609]
[ENSMUST00000112583]
[ENSMUST00000160693]
[ENSMUST00000162646]
|
AlphaFold |
E9QAE1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094609
AA Change: M1V
PolyPhen 2
Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000092192 Gene: ENSMUSG00000049690 AA Change: M1V
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
93 |
N/A |
INTRINSIC |
Pfam:NCKAP5
|
113 |
364 |
3.6e-36 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112583
AA Change: M1V
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108202 Gene: ENSMUSG00000049690 AA Change: M1V
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 |
probably null
Transcript: ENSMUST00000160693
AA Change: M1V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000123975 Gene: ENSMUSG00000049690 AA Change: M1V
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
93 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162646
AA Change: M1V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000123936 Gene: ENSMUSG00000049690 AA Change: M1V
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
93 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa2 |
C |
A |
18: 74,932,154 (GRCm39) |
S264R |
probably damaging |
Het |
Agap1 |
T |
C |
1: 89,694,188 (GRCm39) |
|
probably null |
Het |
Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
Apob |
C |
T |
12: 8,035,408 (GRCm39) |
|
silent |
Het |
Atg2a |
G |
C |
19: 6,300,111 (GRCm39) |
A640P |
probably damaging |
Het |
AW209491 |
G |
A |
13: 14,812,193 (GRCm39) |
V349M |
probably damaging |
Het |
Bmpr2 |
C |
T |
1: 59,854,460 (GRCm39) |
T103I |
probably damaging |
Het |
Btaf1 |
A |
C |
19: 36,971,705 (GRCm39) |
E1231D |
probably benign |
Het |
Btbd7 |
T |
C |
12: 102,751,417 (GRCm39) |
R1116G |
probably damaging |
Het |
Catsperg1 |
A |
T |
7: 28,891,162 (GRCm39) |
M627K |
probably benign |
Het |
Cdk7 |
G |
A |
13: 100,854,126 (GRCm39) |
T121I |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,522,438 (GRCm39) |
T1833S |
|
Het |
Dapk3 |
A |
T |
10: 81,028,266 (GRCm39) |
R279W |
probably damaging |
Het |
Dennd2b |
A |
C |
7: 109,139,642 (GRCm39) |
D645E |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,998,856 (GRCm39) |
E1064G |
probably damaging |
Het |
Dner |
T |
C |
1: 84,673,226 (GRCm39) |
E75G |
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,847,855 (GRCm39) |
E229G |
possibly damaging |
Het |
Fam171a1 |
G |
A |
2: 3,227,434 (GRCm39) |
A856T |
probably benign |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fen1 |
A |
T |
19: 10,178,306 (GRCm39) |
V46D |
probably damaging |
Het |
Ffar3 |
T |
C |
7: 30,554,454 (GRCm39) |
R289G |
probably damaging |
Het |
Fhod3 |
G |
A |
18: 25,243,136 (GRCm39) |
E1165K |
possibly damaging |
Het |
Fras1 |
A |
T |
5: 96,783,923 (GRCm39) |
H809L |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,249,870 (GRCm39) |
E447V |
probably benign |
Het |
Gja8 |
T |
C |
3: 96,827,521 (GRCm39) |
D47G |
probably damaging |
Het |
Gm5795 |
A |
G |
14: 14,883,574 (GRCm39) |
K144E |
probably benign |
Het |
Gm7298 |
A |
C |
6: 121,758,800 (GRCm39) |
Q1139H |
possibly damaging |
Het |
Gpa33 |
A |
T |
1: 165,992,730 (GRCm39) |
Y281F |
probably damaging |
Het |
H2-M10.5 |
G |
A |
17: 37,084,226 (GRCm39) |
E63K |
possibly damaging |
Het |
Hgf |
T |
C |
5: 16,823,956 (GRCm39) |
W718R |
probably damaging |
Het |
Ifna5 |
C |
G |
4: 88,754,046 (GRCm39) |
D95E |
probably benign |
Het |
Ifnar2 |
T |
C |
16: 91,201,073 (GRCm39) |
L438P |
possibly damaging |
Het |
Ints1 |
T |
C |
5: 139,744,326 (GRCm39) |
T1479A |
probably benign |
Het |
Kif1a |
C |
T |
1: 92,953,395 (GRCm39) |
R1263H |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,856,467 (GRCm39) |
T686A |
probably benign |
Het |
Med12l |
A |
T |
3: 59,163,294 (GRCm39) |
E1307V |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,651,062 (GRCm39) |
T1468S |
probably damaging |
Het |
Myo9a |
C |
T |
9: 59,775,427 (GRCm39) |
Q1013* |
probably null |
Het |
Nos3 |
G |
T |
5: 24,588,639 (GRCm39) |
V1122F |
probably damaging |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Odad1 |
T |
G |
7: 45,585,988 (GRCm39) |
C128W |
probably damaging |
Het |
Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
Or52n4 |
A |
T |
7: 104,293,828 (GRCm39) |
C250* |
probably null |
Het |
Oscar |
A |
G |
7: 3,619,072 (GRCm39) |
V2A |
probably benign |
Het |
P2rx6 |
T |
A |
16: 17,385,304 (GRCm39) |
H132Q |
possibly damaging |
Het |
Pakap |
T |
C |
4: 57,637,857 (GRCm39) |
C12R |
unknown |
Het |
Pde6b |
T |
A |
5: 108,536,592 (GRCm39) |
M96K |
possibly damaging |
Het |
Polq |
T |
A |
16: 36,843,159 (GRCm39) |
L231Q |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,423,899 (GRCm39) |
I297V |
possibly damaging |
Het |
Prrc2a |
G |
A |
17: 35,378,844 (GRCm39) |
T399I |
unknown |
Het |
Rapsn |
A |
G |
2: 90,867,172 (GRCm39) |
D158G |
probably damaging |
Het |
Rcor1 |
T |
A |
12: 111,047,933 (GRCm39) |
|
probably benign |
Het |
Sema4d |
G |
T |
13: 51,867,794 (GRCm39) |
P186T |
probably damaging |
Het |
Skic2 |
A |
C |
17: 35,063,640 (GRCm39) |
L601R |
probably damaging |
Het |
Slc4a7 |
G |
A |
14: 14,773,241 (GRCm38) |
R737Q |
probably damaging |
Het |
Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
Sox15 |
T |
G |
11: 69,546,529 (GRCm39) |
Y111D |
probably damaging |
Het |
Spen |
C |
T |
4: 141,200,938 (GRCm39) |
C2563Y |
probably damaging |
Het |
Taf8 |
A |
T |
17: 47,807,527 (GRCm39) |
D153E |
probably damaging |
Het |
Tet3 |
G |
A |
6: 83,345,253 (GRCm39) |
A1728V |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,737,778 (GRCm39) |
D427E |
probably benign |
Het |
Tmem53 |
T |
C |
4: 117,125,451 (GRCm39) |
I188T |
probably benign |
Het |
Tnc |
T |
G |
4: 63,935,331 (GRCm39) |
D535A |
probably benign |
Het |
Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
Tnik |
G |
A |
3: 28,692,544 (GRCm39) |
G867R |
probably damaging |
Het |
Uba3 |
A |
T |
6: 97,162,694 (GRCm39) |
C367* |
probably null |
Het |
Vmn1r235 |
G |
T |
17: 21,481,969 (GRCm39) |
S98I |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,442,109 (GRCm39) |
E108G |
probably benign |
Het |
Xrra1 |
T |
A |
7: 99,525,462 (GRCm39) |
I127N |
probably benign |
Het |
Zc3h18 |
G |
A |
8: 123,129,963 (GRCm39) |
R447Q |
unknown |
Het |
Zcwpw1 |
C |
A |
5: 137,798,340 (GRCm39) |
P179Q |
probably damaging |
Het |
Zfp526 |
C |
T |
7: 24,925,264 (GRCm39) |
H508Y |
probably damaging |
Het |
Zfp583 |
T |
C |
7: 6,320,404 (GRCm39) |
K203E |
probably benign |
Het |
Zfp979 |
A |
G |
4: 147,697,504 (GRCm39) |
C402R |
possibly damaging |
Het |
Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
probably 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 |
|
R0541:Nckap5
|
UTSW |
1 |
126,623,459 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |
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'- CCCAAGGGATGTTGCTTAATGGG -3'
(R):5'- CCTGTGTGCTGAGAAGTCTG -3'
Sequencing Primer
(F):5'- TTGCTTAATGGGGTAAATGGAATCAG -3'
(R):5'- TGCTGAGAAGTCTGGTTTTAGAC -3'
|
Posted On |
2021-10-11 |