Incidental Mutation 'R4434:Nckap5l'
| ID |
328775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckap5l
|
| Ensembl Gene |
ENSMUSG00000023009 |
| Gene Name |
NCK-associated protein 5-like |
| Synonyms |
C230021P08Rik |
| MMRRC Submission |
041148-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R4434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99319916-99355629 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99320744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1270
(S1270A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023747]
|
| AlphaFold |
Q6GQX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023747
AA Change: S1270A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023747
Gene: ENSMUSG00000023009
AA Change: S1270A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,781,253 (GRCm39) |
Q907L |
probably null |
Het |
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| AI597479 |
C |
T |
1: 43,139,959 (GRCm39) |
Q62* |
probably null |
Het |
| Akap9 |
T |
A |
5: 4,082,708 (GRCm39) |
M1944K |
probably damaging |
Het |
| Akr1c19 |
T |
C |
13: 4,292,615 (GRCm39) |
V212A |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Antxrl |
G |
A |
14: 33,793,574 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,972,146 (GRCm39) |
C26R |
probably benign |
Het |
| Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,763,191 (GRCm39) |
T1215I |
possibly damaging |
Het |
| Dnah7c |
G |
A |
1: 46,705,442 (GRCm39) |
R2485H |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,998,901 (GRCm39) |
N1049I |
possibly damaging |
Het |
| Dnaja3 |
T |
G |
16: 4,507,859 (GRCm39) |
Y120* |
probably null |
Het |
| Ehbp1l1 |
G |
T |
19: 5,766,276 (GRCm39) |
R412S |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gcnt4 |
T |
A |
13: 97,082,850 (GRCm39) |
Y49N |
probably benign |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gngt1 |
A |
G |
6: 3,994,282 (GRCm39) |
D20G |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,248,484 (GRCm39) |
N104S |
probably damaging |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,798,835 (GRCm39) |
I2095K |
probably damaging |
Het |
| Hephl1 |
C |
T |
9: 14,988,092 (GRCm39) |
R672H |
probably damaging |
Het |
| Hpse2 |
A |
G |
19: 43,282,708 (GRCm39) |
S182P |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,890,640 (GRCm39) |
S1109R |
probably benign |
Het |
| Itgbl1 |
A |
T |
14: 124,209,611 (GRCm39) |
D330V |
probably damaging |
Het |
| Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,371,225 (GRCm39) |
N4108Y |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,888,362 (GRCm39) |
I171T |
probably damaging |
Het |
| Opa1 |
A |
G |
16: 29,430,801 (GRCm39) |
I500M |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,785,111 (GRCm39) |
H250Y |
probably damaging |
Het |
| Pax8 |
G |
A |
2: 24,319,621 (GRCm39) |
P350L |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,047,006 (GRCm39) |
C772R |
probably damaging |
Het |
| Prh1 |
A |
T |
6: 132,548,841 (GRCm39) |
H116L |
unknown |
Het |
| Rgsl1 |
C |
T |
1: 153,678,087 (GRCm39) |
A114T |
possibly damaging |
Het |
| Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Scube1 |
A |
T |
15: 83,606,125 (GRCm39) |
I49N |
probably damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,562 (GRCm39) |
L244I |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,603,302 (GRCm39) |
T268A |
probably benign |
Het |
| Sp7 |
A |
G |
15: 102,267,536 (GRCm39) |
L90P |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,225,271 (GRCm39) |
S652N |
probably damaging |
Het |
| Tacstd2 |
A |
G |
6: 67,512,128 (GRCm39) |
V188A |
possibly damaging |
Het |
| Tasor |
G |
A |
14: 27,171,818 (GRCm39) |
|
probably null |
Het |
| Tex26 |
T |
C |
5: 149,376,820 (GRCm39) |
S70P |
probably benign |
Het |
| Tmc4 |
C |
T |
7: 3,675,006 (GRCm39) |
V222M |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,066 (GRCm39) |
T905A |
possibly damaging |
Het |
| Trim65 |
G |
A |
11: 116,018,435 (GRCm39) |
Q253* |
probably null |
Het |
| Tuba3a |
A |
T |
6: 125,258,506 (GRCm39) |
Y161* |
probably null |
Het |
| Zfand2b |
A |
G |
1: 75,147,330 (GRCm39) |
S197G |
possibly damaging |
Het |
| Zfp109 |
T |
A |
7: 23,928,771 (GRCm39) |
T213S |
probably benign |
Het |
| Zfp985 |
A |
C |
4: 147,668,368 (GRCm39) |
D412A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
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 |
|
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'- TAGCTCCAGAGGAACTGTAGTGG -3'
(R):5'- GGAGATGGATGTCTCTGAGC -3'
Sequencing Primer
(F):5'- AACTGTAGTGGGTGCGGTCC -3'
(R):5'- TGTGTACAGCCAGCCAGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation