Incidental Mutation 'R1506:Nckap5'
ID |
167909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nckap5
|
Ensembl Gene |
ENSMUSG00000049690 |
Gene Name |
NCK-associated protein 5 |
Synonyms |
LOC380609, D130011D22Rik, E030049G20Rik |
MMRRC Submission |
039554-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1506 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
125841373-126758529 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 125953650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 967
(C967*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057846]
[ENSMUST00000094609]
[ENSMUST00000094610]
[ENSMUST00000112583]
[ENSMUST00000161954]
[ENSMUST00000162877]
|
AlphaFold |
E9QAE1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000057846
AA Change: C903*
|
SMART Domains |
Protein: ENSMUSP00000062229 Gene: ENSMUSG00000049690 AA Change: C903*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
coiled coil region
|
108 |
186 |
N/A |
INTRINSIC |
low complexity region
|
321 |
332 |
N/A |
INTRINSIC |
low complexity region
|
755 |
771 |
N/A |
INTRINSIC |
low complexity region
|
950 |
971 |
N/A |
INTRINSIC |
low complexity region
|
1070 |
1085 |
N/A |
INTRINSIC |
low complexity region
|
1181 |
1200 |
N/A |
INTRINSIC |
Pfam:NCKAP5
|
1298 |
1602 |
1.8e-120 |
PFAM |
low complexity region
|
1728 |
1742 |
N/A |
INTRINSIC |
low complexity region
|
1757 |
1771 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094609
|
SMART Domains |
Protein: ENSMUSP00000092192 Gene: ENSMUSG00000049690
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 benign
Transcript: ENSMUST00000094610
|
SMART Domains |
Protein: ENSMUSP00000092193 Gene: ENSMUSG00000049690
Domain | Start | End | E-Value | Type |
Pfam:NCKAP5
|
1 |
101 |
8.8e-42 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112583
AA Change: C1035*
|
SMART Domains |
Protein: ENSMUSP00000108202 Gene: ENSMUSG00000049690 AA Change: C1035*
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 |
noncoding transcript
Transcript: ENSMUST00000159934
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161954
AA Change: C967*
|
SMART Domains |
Protein: ENSMUSP00000125624 Gene: ENSMUSG00000049690 AA Change: C967*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
coiled coil region
|
108 |
186 |
N/A |
INTRINSIC |
low complexity region
|
233 |
256 |
N/A |
INTRINSIC |
low complexity region
|
385 |
396 |
N/A |
INTRINSIC |
low complexity region
|
819 |
835 |
N/A |
INTRINSIC |
low complexity region
|
1014 |
1035 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1149 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1264 |
N/A |
INTRINSIC |
Pfam:NCKAP5
|
1362 |
1666 |
2.1e-120 |
PFAM |
low complexity region
|
1792 |
1806 |
N/A |
INTRINSIC |
low complexity region
|
1821 |
1835 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162877
|
SMART Domains |
Protein: ENSMUSP00000124748 Gene: ENSMUSG00000049690
Domain | Start | End | E-Value | Type |
Pfam:NCKAP5
|
9 |
296 |
6e-36 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
G |
T |
11: 94,248,144 (GRCm39) |
T1152K |
possibly damaging |
Het |
Acp3 |
T |
A |
9: 104,201,373 (GRCm39) |
T82S |
probably damaging |
Het |
Adam23 |
C |
T |
1: 63,586,973 (GRCm39) |
P445S |
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,582,651 (GRCm39) |
|
probably benign |
Het |
Artn |
A |
G |
4: 117,784,058 (GRCm39) |
V136A |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,965,806 (GRCm39) |
T2403A |
probably damaging |
Het |
Bbof1 |
G |
T |
12: 84,470,273 (GRCm39) |
V120L |
probably damaging |
Het |
Boc |
A |
G |
16: 44,323,928 (GRCm39) |
Y158H |
probably damaging |
Het |
Casp8 |
A |
G |
1: 58,863,355 (GRCm39) |
E105G |
probably damaging |
Het |
Cers4 |
T |
C |
8: 4,570,557 (GRCm39) |
F206L |
probably benign |
Het |
Chrna9 |
A |
G |
5: 66,126,479 (GRCm39) |
T78A |
probably benign |
Het |
Creb3 |
A |
T |
4: 43,566,193 (GRCm39) |
T263S |
possibly damaging |
Het |
Cyp2c40 |
A |
G |
19: 39,766,443 (GRCm39) |
V384A |
probably damaging |
Het |
Dip2b |
G |
A |
15: 100,080,994 (GRCm39) |
V879M |
probably damaging |
Het |
Dnah17 |
C |
A |
11: 118,016,213 (GRCm39) |
V14F |
possibly damaging |
Het |
Epb41l4b |
T |
A |
4: 57,088,824 (GRCm39) |
K144N |
probably damaging |
Het |
Ercc6 |
A |
T |
14: 32,291,821 (GRCm39) |
I1062F |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fat2 |
C |
A |
11: 55,175,090 (GRCm39) |
E1874D |
probably benign |
Het |
Fbxw21 |
T |
A |
9: 108,977,257 (GRCm39) |
I151F |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,357,007 (GRCm39) |
I33V |
probably benign |
Het |
Foxn1 |
A |
G |
11: 78,256,761 (GRCm39) |
|
probably benign |
Het |
Gpr63 |
G |
A |
4: 25,008,227 (GRCm39) |
R317H |
probably damaging |
Het |
Grip1 |
C |
A |
10: 119,814,356 (GRCm39) |
H296N |
probably damaging |
Het |
Gtdc1 |
A |
T |
2: 44,465,506 (GRCm39) |
M288K |
possibly damaging |
Het |
Guf1 |
T |
A |
5: 69,724,509 (GRCm39) |
D488E |
possibly damaging |
Het |
Gvin3 |
C |
T |
7: 106,200,788 (GRCm39) |
D819N |
probably benign |
Het |
Heatr5b |
C |
A |
17: 79,060,576 (GRCm39) |
R2033L |
probably damaging |
Het |
Hsd17b2 |
T |
A |
8: 118,429,004 (GRCm39) |
|
probably null |
Het |
Ino80 |
A |
T |
2: 119,255,746 (GRCm39) |
L913* |
probably null |
Het |
Inppl1 |
A |
C |
7: 101,473,174 (GRCm39) |
S1159A |
probably benign |
Het |
Kcnk7 |
G |
A |
19: 5,756,140 (GRCm39) |
C122Y |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,620,962 (GRCm39) |
|
probably benign |
Het |
Muc4 |
A |
T |
16: 32,574,033 (GRCm39) |
S704C |
possibly damaging |
Het |
Nek10 |
T |
C |
14: 14,999,078 (GRCm38) |
|
probably benign |
Het |
Oas1h |
A |
T |
5: 121,009,951 (GRCm39) |
D342V |
possibly damaging |
Het |
Or10j2 |
A |
G |
1: 173,098,336 (GRCm39) |
N198S |
probably benign |
Het |
Or2ak7 |
T |
A |
11: 58,575,014 (GRCm39) |
L105Q |
probably benign |
Het |
Or2n1 |
A |
T |
17: 38,486,091 (GRCm39) |
M39L |
probably benign |
Het |
Or4m1 |
A |
G |
14: 50,557,941 (GRCm39) |
V117A |
probably benign |
Het |
Or8b1b |
T |
C |
9: 38,375,439 (GRCm39) |
M34T |
probably benign |
Het |
Prex1 |
A |
T |
2: 166,429,001 (GRCm39) |
V694E |
probably damaging |
Het |
Rad50 |
G |
A |
11: 53,570,312 (GRCm39) |
A810V |
probably damaging |
Het |
Rcor1 |
T |
C |
12: 111,076,271 (GRCm39) |
S410P |
probably damaging |
Het |
Rps14 |
A |
T |
18: 60,909,551 (GRCm39) |
N26I |
probably benign |
Het |
Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
Slc5a1 |
T |
A |
5: 33,312,052 (GRCm39) |
N481K |
possibly damaging |
Het |
Slco3a1 |
A |
T |
7: 74,009,683 (GRCm39) |
|
probably null |
Het |
Spart |
T |
C |
3: 55,024,992 (GRCm39) |
S196P |
probably damaging |
Het |
Speg |
A |
G |
1: 75,394,307 (GRCm39) |
T1701A |
probably benign |
Het |
Sugt1 |
A |
G |
14: 79,862,365 (GRCm39) |
N271S |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,259,228 (GRCm39) |
L366F |
possibly damaging |
Het |
Tnc |
G |
A |
4: 63,925,921 (GRCm39) |
T953I |
possibly damaging |
Het |
Uqcc1 |
A |
G |
2: 155,753,738 (GRCm39) |
S46P |
probably damaging |
Het |
Vmn2r18 |
T |
C |
5: 151,499,099 (GRCm39) |
|
probably null |
Het |
Vmn2r7 |
T |
A |
3: 64,614,500 (GRCm39) |
Y438F |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,398,419 (GRCm39) |
K520N |
probably benign |
Het |
Vps52 |
T |
C |
17: 34,176,868 (GRCm39) |
L74P |
probably damaging |
Het |
Xpo5 |
G |
T |
17: 46,538,814 (GRCm39) |
M673I |
probably benign |
Het |
Zscan18 |
A |
G |
7: 12,508,129 (GRCm39) |
V457A |
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 |
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'- AGAACTTTGAGTCCTACTGGGAGGC -3'
(R):5'- AGGGTTGAAATCCCCGCTGTTG -3'
Sequencing Primer
(F):5'- ACCCTTGGTTTCTACAGGATGAG -3'
(R):5'- ATCTGTGGCCTCCAGAAAGTC -3'
|
Posted On |
2014-04-13 |