Incidental Mutation 'R4490:Nckap5l'
| ID |
330696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap5l
|
| Ensembl Gene |
ENSMUSG00000023009 |
| Gene Name |
NCK-associated protein 5-like |
| Synonyms |
C230021P08Rik |
| MMRRC Submission |
041746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R4490 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99319916-99355629 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99324011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 831
(P831S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023747]
[ENSMUST00000161948]
|
| AlphaFold |
Q6GQX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023747
AA Change: P831S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: P831S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
817 |
N/A |
INTRINSIC |
|
Pfam:NCKAP5
|
871 |
1173 |
6.8e-89 |
PFAM |
|
low complexity region
|
1205 |
1217 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161004
|
| SMART Domains |
Protein: ENSMUSP00000125080
Gene: ENSMUSG00000023009
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCKAP5
|
5 |
112 |
1.6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161948
|
| SMART Domains |
Protein: ENSMUSP00000123858
Gene: ENSMUSG00000023009
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,461,349 (GRCm39) |
V417A |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,906,121 (GRCm39) |
V881A |
possibly damaging |
Het |
| Arl5c |
G |
A |
11: 97,886,662 (GRCm39) |
R10* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,673,197 (GRCm39) |
C229R |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,784,674 (GRCm39) |
V319A |
probably damaging |
Het |
| Cage1 |
A |
G |
13: 38,207,393 (GRCm39) |
S257P |
possibly damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,842,876 (GRCm39) |
D179G |
probably damaging |
Het |
| Cngb3 |
T |
C |
4: 19,415,684 (GRCm39) |
I398T |
probably benign |
Het |
| Crmp1 |
A |
G |
5: 37,433,675 (GRCm39) |
D178G |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 48,177,429 (GRCm39) |
V370I |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,865,942 (GRCm39) |
T180A |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,044,964 (GRCm39) |
V2084A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,018,928 (GRCm39) |
S476T |
possibly damaging |
Het |
| Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
| Gbp2 |
A |
G |
3: 142,329,525 (GRCm39) |
N24S |
probably benign |
Het |
| Gm14325 |
T |
C |
2: 177,474,776 (GRCm39) |
H101R |
possibly damaging |
Het |
| Gpr55 |
C |
T |
1: 85,869,540 (GRCm39) |
V14M |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,631,480 (GRCm39) |
Y724F |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,301,341 (GRCm39) |
Q195L |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,566,638 (GRCm39) |
F68L |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,268,905 (GRCm39) |
|
probably null |
Het |
| Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,062,424 (GRCm39) |
V447A |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,113,879 (GRCm39) |
|
probably null |
Het |
| Or4b1d |
A |
T |
2: 89,969,261 (GRCm39) |
V74D |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,443,893 (GRCm39) |
Y337C |
probably damaging |
Het |
| Prdm1 |
G |
T |
10: 44,322,903 (GRCm39) |
Y197* |
probably null |
Het |
| Prdm4 |
A |
T |
10: 85,736,763 (GRCm39) |
C626S |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,787,733 (GRCm39) |
L873P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,664,194 (GRCm39) |
T23A |
possibly damaging |
Het |
| Rxra |
G |
T |
2: 27,631,207 (GRCm39) |
R118L |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,202,476 (GRCm39) |
L750P |
probably damaging |
Het |
| Trpm1 |
C |
T |
7: 63,858,660 (GRCm39) |
Q228* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,560,937 (GRCm39) |
D265G |
probably damaging |
Het |
| Usp29 |
T |
C |
7: 6,964,949 (GRCm39) |
I264T |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,027,697 (GRCm39) |
L479P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,442,273 (GRCm39) |
S130P |
probably benign |
Het |
|
| Other mutations in Nckap5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02407:Nckap5l
|
APN |
15 |
99,321,008 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02568:Nckap5l
|
APN |
15 |
99,323,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02615:Nckap5l
|
APN |
15 |
99,327,263 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02896:Nckap5l
|
APN |
15 |
99,325,091 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0653:Nckap5l
|
UTSW |
15 |
99,321,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Nckap5l
|
UTSW |
15 |
99,325,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Nckap5l
|
UTSW |
15 |
99,320,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:Nckap5l
|
UTSW |
15 |
99,320,744 (GRCm39) |
missense |
probably benign |
|
|
R4606:Nckap5l
|
UTSW |
15 |
99,327,204 (GRCm39) |
unclassified |
probably benign |
|
|
R4817:Nckap5l
|
UTSW |
15 |
99,321,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Nckap5l
|
UTSW |
15 |
99,323,731 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5011:Nckap5l
|
UTSW |
15 |
99,324,457 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5013:Nckap5l
|
UTSW |
15 |
99,324,457 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5503:Nckap5l
|
UTSW |
15 |
99,323,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Nckap5l
|
UTSW |
15 |
99,325,587 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5715:Nckap5l
|
UTSW |
15 |
99,321,457 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6000:Nckap5l
|
UTSW |
15 |
99,324,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6072:Nckap5l
|
UTSW |
15 |
99,324,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Nckap5l
|
UTSW |
15 |
99,321,869 (GRCm39) |
missense |
probably benign |
|
|
R6198:Nckap5l
|
UTSW |
15 |
99,323,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Nckap5l
|
UTSW |
15 |
99,325,905 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6529:Nckap5l
|
UTSW |
15 |
99,324,475 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6751:Nckap5l
|
UTSW |
15 |
99,321,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Nckap5l
|
UTSW |
15 |
99,324,349 (GRCm39) |
missense |
probably benign |
|
|
R6869:Nckap5l
|
UTSW |
15 |
99,324,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Nckap5l
|
UTSW |
15 |
99,331,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7174:Nckap5l
|
UTSW |
15 |
99,321,884 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7239:Nckap5l
|
UTSW |
15 |
99,324,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Nckap5l
|
UTSW |
15 |
99,325,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Nckap5l
|
UTSW |
15 |
99,321,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Nckap5l
|
UTSW |
15 |
99,324,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7554:Nckap5l
|
UTSW |
15 |
99,327,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7562:Nckap5l
|
UTSW |
15 |
99,321,166 (GRCm39) |
splice site |
probably null |
|
|
R8307:Nckap5l
|
UTSW |
15 |
99,321,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Nckap5l
|
UTSW |
15 |
99,325,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Nckap5l
|
UTSW |
15 |
99,323,930 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8754:Nckap5l
|
UTSW |
15 |
99,327,290 (GRCm39) |
missense |
probably benign |
|
|
R8914:Nckap5l
|
UTSW |
15 |
99,323,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Nckap5l
|
UTSW |
15 |
99,321,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Nckap5l
|
UTSW |
15 |
99,327,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Nckap5l
|
UTSW |
15 |
99,322,082 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCACGTTCTCCTCAATGC -3'
(R):5'- AGAGTCTACTCCTCTCATTCCATGG -3'
Sequencing Primer
(F):5'- CCTCAATGCCCTTCATCACC -3'
(R):5'- TCTCATTCCATGGGAGCTCGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation