Incidental Mutation 'R8446:Nckap5l'
| ID |
654514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap5l
|
| Ensembl Gene |
ENSMUSG00000023009 |
| Gene Name |
NCK-associated protein 5-like |
| Synonyms |
C230021P08Rik |
| MMRRC Submission |
067827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R8446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99319916-99355629 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 99323930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 858
(G858C)
|
| 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: G858C
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: G858C
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
G |
A |
5: 24,771,641 (GRCm39) |
R529* |
probably null |
Het |
| Afap1 |
T |
A |
5: 36,144,645 (GRCm39) |
S122T |
|
Het |
| Arnt |
TG |
T |
3: 95,382,014 (GRCm39) |
|
probably null |
Het |
| Bbs1 |
G |
A |
19: 4,947,633 (GRCm39) |
T307I |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,604,411 (GRCm39) |
S1439T |
|
Het |
| Camk4 |
T |
A |
18: 33,289,810 (GRCm39) |
H152Q |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,311,796 (GRCm39) |
M426K |
possibly damaging |
Het |
| Chrm3 |
C |
T |
13: 9,928,338 (GRCm39) |
G233S |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,454,248 (GRCm39) |
Y461N |
probably damaging |
Het |
| Clip1 |
G |
C |
5: 123,794,008 (GRCm39) |
P12A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,336 (GRCm39) |
L1584P |
possibly damaging |
Het |
| Commd5 |
T |
C |
15: 76,785,094 (GRCm39) |
S164P |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,913,743 (GRCm39) |
V154A |
probably damaging |
Het |
| Ddias |
C |
A |
7: 92,515,818 (GRCm39) |
C25F |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,329,875 (GRCm39) |
I3240F |
probably damaging |
Het |
| Fam186a |
T |
G |
15: 99,845,335 (GRCm39) |
D303A |
unknown |
Het |
| Igkv8-27 |
A |
G |
6: 70,148,932 (GRCm39) |
I74T |
probably damaging |
Het |
| Itgb2l |
G |
T |
16: 96,233,857 (GRCm39) |
Q278K |
probably damaging |
Het |
| Itgb7 |
T |
C |
15: 102,127,043 (GRCm39) |
E464G |
probably damaging |
Het |
| Kdm2a |
G |
A |
19: 4,406,916 (GRCm39) |
Q116* |
probably null |
Het |
| Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,942,035 (GRCm39) |
|
probably null |
Het |
| Lnx2 |
A |
G |
5: 146,970,169 (GRCm39) |
L191S |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,144,347 (GRCm39) |
M1239K |
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,058,982 (GRCm39) |
L262Q |
probably damaging |
Het |
| Or2j3 |
A |
G |
17: 38,615,638 (GRCm39) |
V238A |
probably benign |
Het |
| Or8b46 |
A |
T |
9: 38,450,964 (GRCm39) |
M258L |
probably benign |
Het |
| Pdgfa |
T |
C |
5: 138,964,395 (GRCm39) |
T211A |
unknown |
Het |
| Prl3d2 |
A |
T |
13: 27,307,976 (GRCm39) |
I86F |
probably benign |
Het |
| Rpf2 |
T |
A |
10: 40,115,752 (GRCm39) |
T76S |
probably benign |
Het |
| Setbp1 |
C |
T |
18: 78,900,971 (GRCm39) |
D899N |
probably damaging |
Het |
| Slc35c1 |
T |
A |
2: 92,284,707 (GRCm39) |
E315D |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,719,674 (GRCm39) |
M568L |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,314,602 (GRCm39) |
M737V |
probably benign |
Het |
| Sox17 |
A |
G |
1: 4,562,316 (GRCm39) |
Y295H |
possibly damaging |
Het |
| Tex44 |
A |
T |
1: 86,354,696 (GRCm39) |
I202F |
possibly damaging |
Het |
| Tinagl1 |
C |
T |
4: 130,060,694 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
T |
A |
4: 66,757,673 (GRCm39) |
N155K |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,186,061 (GRCm39) |
F68I |
probably damaging |
Het |
| Trim67 |
G |
T |
8: 125,520,730 (GRCm39) |
A31S |
probably damaging |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,778,553 (GRCm39) |
M1316R |
unknown |
Het |
| Usp40 |
T |
C |
1: 87,906,190 (GRCm39) |
T682A |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,128,953 (GRCm39) |
D272E |
probably benign |
Het |
| Zfp763 |
A |
T |
17: 33,238,473 (GRCm39) |
M224K |
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 |
|
|
R4490:Nckap5l
|
UTSW |
15 |
99,324,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TTTAAGGCCAAACCAGCTGG -3'
(R):5'- ATTCCATGGGAGCTCGAGTG -3'
Sequencing Primer
(F):5'- AAACCAGCTGGCGATGC -3'
(R):5'- AGGAGCTGCCTCACCAAAGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation