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 |
6547823-6556053 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 6548370 bp (GRCm39)
|
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: 78,739,447 (GRCm39) |
Q285R |
probably damaging |
Het |
Acy1 |
T |
A |
9: 106,313,926 (GRCm39) |
N78I |
probably damaging |
Het |
Anln |
T |
C |
9: 22,249,230 (GRCm39) |
K166E |
probably damaging |
Het |
C1qtnf4 |
A |
G |
2: 90,719,877 (GRCm39) |
D50G |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 45,692,818 (GRCm39) |
T100A |
probably damaging |
Het |
Cxcr6 |
C |
T |
9: 123,639,406 (GRCm39) |
R143C |
probably damaging |
Het |
Dhx16 |
T |
C |
17: 36,194,206 (GRCm39) |
L439P |
probably damaging |
Het |
Dlk1 |
T |
C |
12: 109,425,898 (GRCm39) |
V257A |
probably benign |
Het |
Ebpl |
A |
T |
14: 61,597,793 (GRCm39) |
L16Q |
probably null |
Het |
Eml5 |
T |
A |
12: 98,791,814 (GRCm39) |
Y1234F |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gria1 |
A |
G |
11: 57,200,702 (GRCm39) |
D793G |
probably benign |
Het |
Gtse1 |
T |
C |
15: 85,751,778 (GRCm39) |
Y324H |
probably benign |
Het |
Hcn1 |
A |
T |
13: 118,112,591 (GRCm39) |
S852C |
probably damaging |
Het |
Invs |
A |
G |
4: 48,307,823 (GRCm39) |
T83A |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,016,677 (GRCm39) |
L155P |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrc14b |
T |
A |
13: 74,511,759 (GRCm39) |
D107V |
probably damaging |
Het |
Mcm9 |
A |
T |
10: 53,501,825 (GRCm39) |
H253Q |
probably damaging |
Het |
Mcmdc2 |
A |
G |
1: 9,982,032 (GRCm39) |
Y30C |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
Med13l |
G |
A |
5: 118,731,510 (GRCm39) |
R62H |
probably damaging |
Het |
Mrgpra2b |
A |
G |
7: 47,152,280 (GRCm39) |
|
probably benign |
Het |
Ndufb6 |
A |
G |
4: 40,279,234 (GRCm39) |
L35S |
probably damaging |
Het |
Niban2 |
A |
T |
2: 32,809,581 (GRCm39) |
K260M |
probably damaging |
Het |
Nkapl |
A |
G |
13: 21,651,779 (GRCm39) |
I278T |
probably benign |
Het |
Nrbp2 |
T |
C |
15: 75,961,332 (GRCm39) |
E263G |
probably damaging |
Het |
Nup85 |
T |
A |
11: 115,471,338 (GRCm39) |
L110Q |
probably damaging |
Het |
Or14c40 |
A |
G |
7: 86,313,293 (GRCm39) |
N141S |
possibly damaging |
Het |
Or1e35 |
A |
G |
11: 73,797,721 (GRCm39) |
I199T |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
Or4a78 |
A |
T |
2: 89,498,146 (GRCm39) |
M28K |
possibly damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,379 (GRCm39) |
Q98L |
probably damaging |
Het |
Or6b2b |
T |
A |
1: 92,418,815 (GRCm39) |
I221F |
probably damaging |
Het |
Polr2m |
C |
T |
9: 71,390,918 (GRCm39) |
D95N |
probably benign |
Het |
Popdc2 |
A |
T |
16: 38,194,665 (GRCm39) |
D362V |
probably damaging |
Het |
Pot1a |
A |
T |
6: 25,758,855 (GRCm39) |
I308N |
possibly damaging |
Het |
Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Rundc3a |
G |
A |
11: 102,290,225 (GRCm39) |
E189K |
possibly damaging |
Het |
Scaf1 |
A |
C |
7: 44,662,230 (GRCm39) |
|
probably null |
Het |
Scaper |
T |
C |
9: 55,766,360 (GRCm39) |
|
probably null |
Het |
Sh3glb1 |
C |
T |
3: 144,418,410 (GRCm39) |
C51Y |
probably damaging |
Het |
Slc10a5 |
T |
C |
3: 10,400,391 (GRCm39) |
T90A |
probably benign |
Het |
Slc17a3 |
T |
A |
13: 24,040,449 (GRCm39) |
S336T |
probably damaging |
Het |
Slc41a2 |
C |
A |
10: 83,133,023 (GRCm39) |
C341F |
probably benign |
Het |
Spata31 |
A |
G |
13: 65,068,127 (GRCm39) |
*67W |
probably null |
Het |
Stap2 |
C |
T |
17: 56,307,475 (GRCm39) |
|
probably null |
Het |
Stt3a |
A |
T |
9: 36,663,696 (GRCm39) |
M182K |
probably benign |
Het |
Tcfl5 |
G |
A |
2: 180,284,050 (GRCm39) |
|
silent |
Het |
Tmx3 |
T |
C |
18: 90,555,225 (GRCm39) |
V314A |
probably benign |
Het |
Upf1 |
A |
G |
8: 70,791,167 (GRCm39) |
L525P |
probably damaging |
Het |
Wdr6 |
T |
C |
9: 108,452,981 (GRCm39) |
I301V |
possibly damaging |
Het |
Ylpm1 |
T |
A |
12: 85,107,025 (GRCm39) |
|
probably null |
Het |
Zfp273 |
T |
C |
13: 67,973,450 (GRCm39) |
Y160H |
probably damaging |
Het |
|
Other mutations in Nacad |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00597:Nacad
|
APN |
11 |
6,550,921 (GRCm39) |
missense |
probably benign |
0.24 |
IGL00903:Nacad
|
APN |
11 |
6,550,632 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01303:Nacad
|
APN |
11 |
6,548,279 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01353:Nacad
|
APN |
11 |
6,550,530 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01833:Nacad
|
APN |
11 |
6,555,700 (GRCm39) |
missense |
unknown |
|
IGL02267:Nacad
|
APN |
11 |
6,552,649 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02531:Nacad
|
APN |
11 |
6,548,580 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02994:Nacad
|
APN |
11 |
6,549,528 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03121:Nacad
|
APN |
11 |
6,550,933 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03161:Nacad
|
APN |
11 |
6,550,378 (GRCm39) |
nonsense |
probably null |
|
Locusta
|
UTSW |
11 |
6,552,387 (GRCm39) |
missense |
possibly damaging |
0.88 |
migratoria
|
UTSW |
11 |
6,551,196 (GRCm39) |
missense |
probably benign |
0.30 |
FR4340:Nacad
|
UTSW |
11 |
6,549,761 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Nacad
|
UTSW |
11 |
6,549,762 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Nacad
|
UTSW |
11 |
6,549,760 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Nacad
|
UTSW |
11 |
6,549,752 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Nacad
|
UTSW |
11 |
6,549,753 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Nacad
|
UTSW |
11 |
6,549,763 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Nacad
|
UTSW |
11 |
6,549,756 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Nacad
|
UTSW |
11 |
6,549,749 (GRCm39) |
small insertion |
probably benign |
|
PIT4402001:Nacad
|
UTSW |
11 |
6,548,621 (GRCm39) |
missense |
probably benign |
0.19 |
R0330:Nacad
|
UTSW |
11 |
6,550,903 (GRCm39) |
missense |
probably benign |
|
R0331:Nacad
|
UTSW |
11 |
6,549,441 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0409:Nacad
|
UTSW |
11 |
6,549,810 (GRCm39) |
missense |
probably benign |
0.00 |
R0612:Nacad
|
UTSW |
11 |
6,551,382 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0644:Nacad
|
UTSW |
11 |
6,549,486 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0829:Nacad
|
UTSW |
11 |
6,551,158 (GRCm39) |
missense |
probably benign |
0.18 |
R1483:Nacad
|
UTSW |
11 |
6,552,217 (GRCm39) |
missense |
probably damaging |
0.99 |
R1583:Nacad
|
UTSW |
11 |
6,551,185 (GRCm39) |
missense |
probably benign |
0.08 |
R1905:Nacad
|
UTSW |
11 |
6,552,540 (GRCm39) |
missense |
probably benign |
0.15 |
R1907:Nacad
|
UTSW |
11 |
6,552,540 (GRCm39) |
missense |
probably benign |
0.15 |
R2361:Nacad
|
UTSW |
11 |
6,550,821 (GRCm39) |
missense |
probably benign |
|
R2979:Nacad
|
UTSW |
11 |
6,551,424 (GRCm39) |
missense |
probably benign |
0.06 |
R4192:Nacad
|
UTSW |
11 |
6,555,534 (GRCm39) |
missense |
probably benign |
0.44 |
R4381:Nacad
|
UTSW |
11 |
6,550,204 (GRCm39) |
missense |
probably benign |
0.18 |
R4539:Nacad
|
UTSW |
11 |
6,550,677 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4751:Nacad
|
UTSW |
11 |
6,555,726 (GRCm39) |
missense |
unknown |
|
R4944:Nacad
|
UTSW |
11 |
6,548,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4962:Nacad
|
UTSW |
11 |
6,549,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5102:Nacad
|
UTSW |
11 |
6,548,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R5189:Nacad
|
UTSW |
11 |
6,551,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R5296:Nacad
|
UTSW |
11 |
6,555,745 (GRCm39) |
missense |
unknown |
|
R5566:Nacad
|
UTSW |
11 |
6,552,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Nacad
|
UTSW |
11 |
6,552,387 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5725:Nacad
|
UTSW |
11 |
6,551,643 (GRCm39) |
missense |
probably benign |
0.15 |
R5864:Nacad
|
UTSW |
11 |
6,550,581 (GRCm39) |
missense |
probably benign |
|
R5882:Nacad
|
UTSW |
11 |
6,548,568 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6089:Nacad
|
UTSW |
11 |
6,551,331 (GRCm39) |
missense |
probably benign |
0.03 |
R6117:Nacad
|
UTSW |
11 |
6,549,810 (GRCm39) |
missense |
probably benign |
0.00 |
R6161:Nacad
|
UTSW |
11 |
6,550,902 (GRCm39) |
missense |
probably benign |
|
R6351:Nacad
|
UTSW |
11 |
6,550,165 (GRCm39) |
nonsense |
probably null |
|
R6351:Nacad
|
UTSW |
11 |
6,549,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6366:Nacad
|
UTSW |
11 |
6,551,196 (GRCm39) |
missense |
probably benign |
0.30 |
R6525:Nacad
|
UTSW |
11 |
6,552,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R6811:Nacad
|
UTSW |
11 |
6,549,400 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6931:Nacad
|
UTSW |
11 |
6,551,877 (GRCm39) |
missense |
probably benign |
0.14 |
R6966:Nacad
|
UTSW |
11 |
6,552,634 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7228:Nacad
|
UTSW |
11 |
6,548,412 (GRCm39) |
missense |
probably benign |
0.19 |
R7248:Nacad
|
UTSW |
11 |
6,548,589 (GRCm39) |
nonsense |
probably null |
|
R7556:Nacad
|
UTSW |
11 |
6,551,272 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7594:Nacad
|
UTSW |
11 |
6,552,457 (GRCm39) |
missense |
probably damaging |
0.99 |
R7813:Nacad
|
UTSW |
11 |
6,549,071 (GRCm39) |
missense |
probably benign |
0.38 |
R7841:Nacad
|
UTSW |
11 |
6,551,031 (GRCm39) |
missense |
probably benign |
0.00 |
R8243:Nacad
|
UTSW |
11 |
6,552,643 (GRCm39) |
missense |
probably damaging |
0.96 |
R8810:Nacad
|
UTSW |
11 |
6,552,853 (GRCm39) |
missense |
probably benign |
0.15 |
R9042:Nacad
|
UTSW |
11 |
6,548,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9057:Nacad
|
UTSW |
11 |
6,550,876 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9114:Nacad
|
UTSW |
11 |
6,552,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R9328:Nacad
|
UTSW |
11 |
6,552,417 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9394:Nacad
|
UTSW |
11 |
6,549,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R9595:Nacad
|
UTSW |
11 |
6,551,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R9755:Nacad
|
UTSW |
11 |
6,549,374 (GRCm39) |
critical splice donor site |
probably null |
|
R9760:Nacad
|
UTSW |
11 |
6,551,662 (GRCm39) |
missense |
probably benign |
0.02 |
T0975:Nacad
|
UTSW |
11 |
6,551,632 (GRCm39) |
missense |
probably benign |
0.17 |
T0975:Nacad
|
UTSW |
11 |
6,551,622 (GRCm39) |
missense |
probably benign |
0.03 |
T0975:Nacad
|
UTSW |
11 |
6,549,750 (GRCm39) |
small insertion |
probably benign |
|
X0011:Nacad
|
UTSW |
11 |
6,551,074 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Nacad
|
UTSW |
11 |
6,552,297 (GRCm39) |
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 |