Incidental Mutation 'R6141:Nckap1'
| ID |
488562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap1
|
| Ensembl Gene |
ENSMUSG00000027002 |
| Gene Name |
NCK-associated protein 1 |
| Synonyms |
Hem-2, Hem2, Nap1, H19, mh19 |
| MMRRC Submission |
044288-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6141 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
80330856-80411526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 80360551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 533
(D533Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028386]
[ENSMUST00000111760]
|
| AlphaFold |
P28660 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028386
AA Change: D527Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: D527Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
8 |
1124 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111760
AA Change: D533Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: D533Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nckap1
|
9 |
1128 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154793
|
| Meta Mutation Damage Score |
0.9577 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit growth arrest at midgestation, an open neural tube, cardia bifida, defective foregut development, defects in endoderm and mesoderm migration and sometimes duplication of the anteroposterior body axis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
A |
T |
7: 42,097,483 (GRCm39) |
C4S |
probably damaging |
Het |
| Abhd5 |
A |
T |
9: 122,206,998 (GRCm39) |
T95S |
probably benign |
Het |
| Ambra1 |
A |
T |
2: 91,706,099 (GRCm39) |
N795Y |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,464,102 (GRCm39) |
N1289D |
possibly damaging |
Het |
| Cavin2 |
T |
C |
1: 51,340,097 (GRCm39) |
L258P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,807 (GRCm39) |
T233A |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,526,932 (GRCm39) |
I279N |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,144,162 (GRCm39) |
L169Q |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,458,545 (GRCm39) |
S157G |
possibly damaging |
Het |
| Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
| Eepd1 |
T |
A |
9: 25,394,280 (GRCm39) |
D181E |
probably benign |
Het |
| Etfa |
T |
C |
9: 55,372,103 (GRCm39) |
H286R |
probably damaging |
Het |
| Gm44419 |
T |
A |
6: 65,127,940 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch4 |
C |
T |
3: 87,962,047 (GRCm39) |
R155* |
probably null |
Het |
| Grik1 |
T |
G |
16: 87,693,760 (GRCm39) |
R862S |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,792,875 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
C |
6: 115,892,972 (GRCm39) |
W919R |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,858,194 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
A |
T |
4: 120,573,066 (GRCm39) |
I245N |
probably damaging |
Het |
| Map3k3 |
G |
T |
11: 105,987,874 (GRCm39) |
R21L |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,215,604 (GRCm39) |
V1063A |
probably damaging |
Het |
| Msr1 |
A |
T |
8: 40,084,360 (GRCm39) |
V65E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,113,903 (GRCm39) |
D17V |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,159,785 (GRCm39) |
|
probably null |
Het |
| Naip6 |
T |
C |
13: 100,444,741 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,064,185 (GRCm39) |
E375G |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,439,097 (GRCm39) |
V1605A |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,320,464 (GRCm39) |
I13T |
probably benign |
Het |
| Or52ae9 |
C |
A |
7: 103,389,994 (GRCm39) |
R151L |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,916 (GRCm39) |
H20L |
probably benign |
Het |
| Or5b114-ps1 |
A |
T |
19: 13,352,647 (GRCm39) |
Y107F |
probably benign |
Het |
| Or7e176 |
T |
A |
9: 20,171,754 (GRCm39) |
M206K |
probably benign |
Het |
| Pcp2 |
G |
A |
8: 3,673,543 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
A |
G |
5: 75,334,057 (GRCm39) |
S377G |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,511 (GRCm39) |
Y53* |
probably null |
Het |
| Ric1 |
T |
C |
19: 29,572,842 (GRCm39) |
S761P |
probably damaging |
Het |
| Satb1 |
T |
C |
17: 52,082,404 (GRCm39) |
T417A |
possibly damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,859,379 (GRCm39) |
M156K |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,041,789 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc66a1 |
A |
G |
4: 139,027,556 (GRCm39) |
V262A |
probably benign |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,707 (GRCm39) |
V916E |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,556 (GRCm39) |
R674G |
possibly damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,545,299 (GRCm39) |
Y11H |
probably damaging |
Het |
| Tnr |
T |
A |
1: 159,714,692 (GRCm39) |
V857E |
probably benign |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,526 (GRCm39) |
I373V |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,090,160 (GRCm39) |
R414S |
possibly damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,742,576 (GRCm39) |
S317P |
probably benign |
Het |
| Wdr49 |
A |
T |
3: 75,230,989 (GRCm39) |
F558I |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,648,105 (GRCm39) |
I983T |
probably benign |
Het |
|
| Other mutations in Nckap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Nckap1
|
APN |
2 |
80,336,546 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00896:Nckap1
|
APN |
2 |
80,411,297 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01343:Nckap1
|
APN |
2 |
80,350,186 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01593:Nckap1
|
APN |
2 |
80,350,914 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01677:Nckap1
|
APN |
2 |
80,360,641 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01873:Nckap1
|
APN |
2 |
80,383,729 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01874:Nckap1
|
APN |
2 |
80,355,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Nckap1
|
APN |
2 |
80,339,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Nckap1
|
APN |
2 |
80,358,962 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02348:Nckap1
|
APN |
2 |
80,348,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03349:Nckap1
|
APN |
2 |
80,355,904 (GRCm39) |
missense |
probably benign |
0.07 |
|
PIT4151001:Nckap1
|
UTSW |
2 |
80,350,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0326:Nckap1
|
UTSW |
2 |
80,383,714 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0345:Nckap1
|
UTSW |
2 |
80,375,321 (GRCm39) |
splice site |
probably benign |
|
|
R0520:Nckap1
|
UTSW |
2 |
80,371,874 (GRCm39) |
splice site |
probably benign |
|
|
R0603:Nckap1
|
UTSW |
2 |
80,343,073 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0924:Nckap1
|
UTSW |
2 |
80,384,593 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0930:Nckap1
|
UTSW |
2 |
80,384,593 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0964:Nckap1
|
UTSW |
2 |
80,378,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1122:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1123:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1124:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1125:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1127:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1182:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1234:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1236:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1384:Nckap1
|
UTSW |
2 |
80,364,014 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1402:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1402:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1511:Nckap1
|
UTSW |
2 |
80,383,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1677:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1686:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1687:Nckap1
|
UTSW |
2 |
80,350,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1717:Nckap1
|
UTSW |
2 |
80,343,014 (GRCm39) |
splice site |
probably benign |
|
|
R1789:Nckap1
|
UTSW |
2 |
80,350,900 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1822:Nckap1
|
UTSW |
2 |
80,348,242 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1840:Nckap1
|
UTSW |
2 |
80,332,594 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1926:Nckap1
|
UTSW |
2 |
80,337,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1970:Nckap1
|
UTSW |
2 |
80,348,286 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2027:Nckap1
|
UTSW |
2 |
80,365,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Nckap1
|
UTSW |
2 |
80,400,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Nckap1
|
UTSW |
2 |
80,360,562 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3824:Nckap1
|
UTSW |
2 |
80,370,904 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4784:Nckap1
|
UTSW |
2 |
80,337,278 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4908:Nckap1
|
UTSW |
2 |
80,353,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5077:Nckap1
|
UTSW |
2 |
80,379,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5311:Nckap1
|
UTSW |
2 |
80,370,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Nckap1
|
UTSW |
2 |
80,343,034 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6209:Nckap1
|
UTSW |
2 |
80,355,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Nckap1
|
UTSW |
2 |
80,339,125 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6294:Nckap1
|
UTSW |
2 |
80,371,858 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6458:Nckap1
|
UTSW |
2 |
80,342,893 (GRCm39) |
splice site |
probably null |
|
|
R6937:Nckap1
|
UTSW |
2 |
80,339,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Nckap1
|
UTSW |
2 |
80,350,911 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7180:Nckap1
|
UTSW |
2 |
80,337,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7208:Nckap1
|
UTSW |
2 |
80,370,542 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7363:Nckap1
|
UTSW |
2 |
80,370,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Nckap1
|
UTSW |
2 |
80,354,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Nckap1
|
UTSW |
2 |
80,332,635 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7806:Nckap1
|
UTSW |
2 |
80,371,843 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8143:Nckap1
|
UTSW |
2 |
80,336,530 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8270:Nckap1
|
UTSW |
2 |
80,355,008 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8775:Nckap1
|
UTSW |
2 |
80,375,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775-TAIL:Nckap1
|
UTSW |
2 |
80,375,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8886:Nckap1
|
UTSW |
2 |
80,339,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8913:Nckap1
|
UTSW |
2 |
80,401,564 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9080:Nckap1
|
UTSW |
2 |
80,350,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Nckap1
|
UTSW |
2 |
80,383,750 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9722:Nckap1
|
UTSW |
2 |
80,401,568 (GRCm39) |
nonsense |
probably null |
|
|
R9749:Nckap1
|
UTSW |
2 |
80,401,568 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Nckap1
|
UTSW |
2 |
80,370,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCATGGTTACCAGCTATC -3'
(R):5'- TCCTCTGTACAAAGACAAGCG -3'
Sequencing Primer
(F):5'- GGCTGTCCTAGAACTCAGTAGAC -3'
(R):5'- CAAGCGTTGAGTCATTAGCAGTTCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation