Incidental Mutation 'R5748:Nacad'
| ID |
445877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nacad
|
| Ensembl Gene |
ENSMUSG00000041073 |
| Gene Name |
NAC alpha domain containing |
| Synonyms |
mKIAA0363 |
| MMRRC Submission |
043355-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6597823-6606053 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 6598370 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1426
(K1426*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000388]
[ENSMUST00000045713]
[ENSMUST00000109721]
[ENSMUST00000109722]
|
| AlphaFold |
Q5SWP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000388
|
| SMART Domains |
Protein: ENSMUSP00000000388
Gene: ENSMUSG00000000378
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Blast:PTB
|
60 |
230 |
2e-35 |
BLAST |
|
low complexity region
|
242 |
252 |
N/A |
INTRINSIC |
|
Pfam:CCM2_C
|
296 |
396 |
8.9e-50 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045713
AA Change: K1426*
|
| SMART Domains |
Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: K1426*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
479 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
537 |
689 |
6.19e-8 |
PROSPERO |
|
low complexity region
|
692 |
713 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
732 |
889 |
6.19e-8 |
PROSPERO |
|
low complexity region
|
924 |
939 |
N/A |
INTRINSIC |
|
low complexity region
|
1159 |
1170 |
N/A |
INTRINSIC |
|
low complexity region
|
1308 |
1325 |
N/A |
INTRINSIC |
|
Pfam:NAC
|
1357 |
1413 |
2.9e-24 |
PFAM |
|
low complexity region
|
1449 |
1466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109721
|
| SMART Domains |
Protein: ENSMUSP00000105343
Gene: ENSMUSG00000000378
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
2 |
166 |
2e-32 |
BLAST |
|
low complexity region
|
178 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
PDB:4FQN|D
|
245 |
324 |
5e-52 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109722
|
| SMART Domains |
Protein: ENSMUSP00000105344
Gene: ENSMUSG00000000378
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTB
|
2 |
166 |
2e-32 |
BLAST |
|
low complexity region
|
178 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
PDB:4FQN|D
|
245 |
324 |
5e-52 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177391
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 79,089,699 (GRCm38) |
Q285R |
probably damaging |
Het |
| Acy1 |
T |
A |
9: 106,436,727 (GRCm38) |
N78I |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,337,934 (GRCm38) |
K166E |
probably damaging |
Het |
| C1qtnf4 |
A |
G |
2: 90,889,533 (GRCm38) |
D50G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 45,715,884 (GRCm38) |
T100A |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,810,341 (GRCm38) |
R143C |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 35,883,314 (GRCm38) |
L439P |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,459,972 (GRCm38) |
V257A |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,360,344 (GRCm38) |
L16Q |
probably null |
Het |
| Eml5 |
T |
A |
12: 98,825,555 (GRCm38) |
Y1234F |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,464,305 (GRCm38) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,309,876 (GRCm38) |
D793G |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,867,577 (GRCm38) |
Y324H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 117,976,055 (GRCm38) |
S852C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,307,823 (GRCm38) |
T83A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,109,370 (GRCm38) |
L155P |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,994,010 (GRCm38) |
A199T |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,363,640 (GRCm38) |
D107V |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,625,729 (GRCm38) |
H253Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,911,807 (GRCm38) |
Y30C |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 29,850,551 (GRCm38) |
D174N |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,593,445 (GRCm38) |
R62H |
probably damaging |
Het |
| Mrgpra2b |
A |
G |
7: 47,502,532 (GRCm38) |
|
probably benign |
Het |
| Ndufb6 |
A |
G |
4: 40,279,234 (GRCm38) |
L35S |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,919,569 (GRCm38) |
K260M |
probably damaging |
Het |
| Nkapl |
A |
G |
13: 21,467,609 (GRCm38) |
I278T |
probably benign |
Het |
| Nrbp2 |
T |
C |
15: 76,089,483 (GRCm38) |
E263G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,580,512 (GRCm38) |
L110Q |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,664,085 (GRCm38) |
N141S |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,906,895 (GRCm38) |
I199T |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,667,802 (GRCm38) |
M28K |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,920,015 (GRCm38) |
Q98L |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,491,093 (GRCm38) |
I221F |
probably damaging |
Het |
| Polr2m |
C |
T |
9: 71,483,636 (GRCm38) |
D95N |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,374,303 (GRCm38) |
D362V |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,758,856 (GRCm38) |
I308N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,579,928 (GRCm38) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Rundc3a |
G |
A |
11: 102,399,399 (GRCm38) |
E189K |
possibly damaging |
Het |
| Scaf1 |
A |
C |
7: 45,012,806 (GRCm38) |
|
probably null |
Het |
| Scaper |
T |
C |
9: 55,859,076 (GRCm38) |
|
probably null |
Het |
| Sh3glb1 |
C |
T |
3: 144,712,649 (GRCm38) |
C51Y |
probably damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,335,331 (GRCm38) |
T90A |
probably benign |
Het |
| Slc17a3 |
T |
A |
13: 23,856,466 (GRCm38) |
S336T |
probably damaging |
Het |
| Slc41a2 |
C |
A |
10: 83,297,159 (GRCm38) |
C341F |
probably benign |
Het |
| Spata31 |
A |
G |
13: 64,920,313 (GRCm38) |
*67W |
probably null |
Het |
| Stap2 |
C |
T |
17: 56,000,475 (GRCm38) |
|
probably null |
Het |
| Stt3a |
A |
T |
9: 36,752,400 (GRCm38) |
M182K |
probably benign |
Het |
| Tcfl5 |
G |
A |
2: 180,642,257 (GRCm38) |
|
silent |
Het |
| Tmx3 |
T |
C |
18: 90,537,101 (GRCm38) |
V314A |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,338,517 (GRCm38) |
L525P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,575,782 (GRCm38) |
I301V |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,060,251 (GRCm38) |
|
probably null |
Het |
| Zfp273 |
T |
C |
13: 67,825,331 (GRCm38) |
Y160H |
probably damaging |
Het |
|
| Other mutations in Nacad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Nacad
|
APN |
11 |
6,600,921 (GRCm38) |
missense |
probably benign |
0.24 |
|
IGL00903:Nacad
|
APN |
11 |
6,600,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01303:Nacad
|
APN |
11 |
6,598,279 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01353:Nacad
|
APN |
11 |
6,600,530 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL01833:Nacad
|
APN |
11 |
6,605,700 (GRCm38) |
missense |
unknown |
|
|
IGL02267:Nacad
|
APN |
11 |
6,602,649 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL02531:Nacad
|
APN |
11 |
6,598,580 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02994:Nacad
|
APN |
11 |
6,599,528 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL03121:Nacad
|
APN |
11 |
6,600,933 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03161:Nacad
|
APN |
11 |
6,600,378 (GRCm38) |
nonsense |
probably null |
|
|
Locusta
|
UTSW |
11 |
6,602,387 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
migratoria
|
UTSW |
11 |
6,601,196 (GRCm38) |
missense |
probably benign |
0.30 |
|
FR4340:Nacad
|
UTSW |
11 |
6,599,761 (GRCm38) |
small insertion |
probably benign |
|
|
FR4342:Nacad
|
UTSW |
11 |
6,599,762 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Nacad
|
UTSW |
11 |
6,599,760 (GRCm38) |
small insertion |
probably benign |
|
|
FR4548:Nacad
|
UTSW |
11 |
6,599,752 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Nacad
|
UTSW |
11 |
6,599,753 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Nacad
|
UTSW |
11 |
6,599,763 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Nacad
|
UTSW |
11 |
6,599,756 (GRCm38) |
small insertion |
probably benign |
|
|
FR4976:Nacad
|
UTSW |
11 |
6,599,749 (GRCm38) |
small insertion |
probably benign |
|
|
PIT4402001:Nacad
|
UTSW |
11 |
6,598,621 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0330:Nacad
|
UTSW |
11 |
6,600,903 (GRCm38) |
missense |
probably benign |
|
|
R0331:Nacad
|
UTSW |
11 |
6,599,441 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0409:Nacad
|
UTSW |
11 |
6,599,810 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0612:Nacad
|
UTSW |
11 |
6,601,382 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0644:Nacad
|
UTSW |
11 |
6,599,486 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0829:Nacad
|
UTSW |
11 |
6,601,158 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1483:Nacad
|
UTSW |
11 |
6,602,217 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1583:Nacad
|
UTSW |
11 |
6,601,185 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1905:Nacad
|
UTSW |
11 |
6,602,540 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1907:Nacad
|
UTSW |
11 |
6,602,540 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2361:Nacad
|
UTSW |
11 |
6,600,821 (GRCm38) |
missense |
probably benign |
|
|
R2979:Nacad
|
UTSW |
11 |
6,601,424 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4192:Nacad
|
UTSW |
11 |
6,605,534 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4381:Nacad
|
UTSW |
11 |
6,600,204 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4539:Nacad
|
UTSW |
11 |
6,600,677 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4751:Nacad
|
UTSW |
11 |
6,605,726 (GRCm38) |
missense |
unknown |
|
|
R4944:Nacad
|
UTSW |
11 |
6,598,507 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4962:Nacad
|
UTSW |
11 |
6,599,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5102:Nacad
|
UTSW |
11 |
6,598,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5189:Nacad
|
UTSW |
11 |
6,601,611 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5296:Nacad
|
UTSW |
11 |
6,605,745 (GRCm38) |
missense |
unknown |
|
|
R5566:Nacad
|
UTSW |
11 |
6,602,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5634:Nacad
|
UTSW |
11 |
6,602,387 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5725:Nacad
|
UTSW |
11 |
6,601,643 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5864:Nacad
|
UTSW |
11 |
6,600,581 (GRCm38) |
missense |
probably benign |
|
|
R5882:Nacad
|
UTSW |
11 |
6,598,568 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6089:Nacad
|
UTSW |
11 |
6,601,331 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6117:Nacad
|
UTSW |
11 |
6,599,810 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6161:Nacad
|
UTSW |
11 |
6,600,902 (GRCm38) |
missense |
probably benign |
|
|
R6351:Nacad
|
UTSW |
11 |
6,600,165 (GRCm38) |
nonsense |
probably null |
|
|
R6351:Nacad
|
UTSW |
11 |
6,599,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6366:Nacad
|
UTSW |
11 |
6,601,196 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6525:Nacad
|
UTSW |
11 |
6,602,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6811:Nacad
|
UTSW |
11 |
6,599,400 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6931:Nacad
|
UTSW |
11 |
6,601,877 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6966:Nacad
|
UTSW |
11 |
6,602,634 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7228:Nacad
|
UTSW |
11 |
6,598,412 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7248:Nacad
|
UTSW |
11 |
6,598,589 (GRCm38) |
nonsense |
probably null |
|
|
R7556:Nacad
|
UTSW |
11 |
6,601,272 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7594:Nacad
|
UTSW |
11 |
6,602,457 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7813:Nacad
|
UTSW |
11 |
6,599,071 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7841:Nacad
|
UTSW |
11 |
6,601,031 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8243:Nacad
|
UTSW |
11 |
6,602,643 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8810:Nacad
|
UTSW |
11 |
6,602,853 (GRCm38) |
missense |
probably benign |
0.15 |
|
R9042:Nacad
|
UTSW |
11 |
6,598,948 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9057:Nacad
|
UTSW |
11 |
6,600,876 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9114:Nacad
|
UTSW |
11 |
6,602,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9328:Nacad
|
UTSW |
11 |
6,602,417 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R9394:Nacad
|
UTSW |
11 |
6,599,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9595:Nacad
|
UTSW |
11 |
6,601,790 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9755:Nacad
|
UTSW |
11 |
6,599,374 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9760:Nacad
|
UTSW |
11 |
6,601,662 (GRCm38) |
missense |
probably benign |
0.02 |
|
T0975:Nacad
|
UTSW |
11 |
6,601,632 (GRCm38) |
missense |
probably benign |
0.17 |
|
T0975:Nacad
|
UTSW |
11 |
6,601,622 (GRCm38) |
missense |
probably benign |
0.03 |
|
T0975:Nacad
|
UTSW |
11 |
6,599,750 (GRCm38) |
small insertion |
probably benign |
|
|
X0011:Nacad
|
UTSW |
11 |
6,601,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Nacad
|
UTSW |
11 |
6,602,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGGAGGTGGCTTAAGCTGC -3'
(R):5'- AGCCGGATGTCTTCAAGAGC -3'
Sequencing Primer
(F):5'- TAAGCTGCCTGAGACCCCTTG -3'
(R):5'- ATGTCTTCAAGAGCCCCGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation