Incidental Mutation 'R4944:Nacad'
| ID |
383363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nacad
|
| Ensembl Gene |
ENSMUSG00000041073 |
| Gene Name |
NAC alpha domain containing |
| Synonyms |
mKIAA0363 |
| MMRRC Submission |
042541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6597823-6606053 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6598507 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1409
(E1409G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000045713
AA Change: E1409G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: E1409G
| 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 |
0.8784 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
G |
A |
5: 8,934,327 (GRCm38) |
|
probably null |
Het |
| Angptl7 |
C |
G |
4: 148,500,077 (GRCm38) |
Q71H |
probably damaging |
Het |
| Arhgap30 |
A |
T |
1: 171,402,254 (GRCm38) |
N176Y |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,274,534 (GRCm38) |
S805T |
probably damaging |
Het |
| Atxn1 |
T |
G |
13: 45,566,931 (GRCm38) |
H496P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,739,421 (GRCm38) |
S597P |
probably damaging |
Het |
| Cabin1 |
C |
T |
10: 75,721,363 (GRCm38) |
G1147D |
probably damaging |
Het |
| Catsperd |
T |
C |
17: 56,662,744 (GRCm38) |
S613P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,650,409 (GRCm38) |
Y88H |
probably damaging |
Het |
| Cntn1 |
C |
A |
15: 92,228,668 (GRCm38) |
P47Q |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,042,190 (GRCm38) |
L38P |
possibly damaging |
Het |
| Col5a2 |
T |
G |
1: 45,376,695 (GRCm38) |
I1431L |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 15,998,772 (GRCm38) |
G2310D |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,837,791 (GRCm38) |
I39N |
probably damaging |
Het |
| Diexf |
A |
T |
1: 193,114,954 (GRCm38) |
M530K |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,167,387 (GRCm38) |
|
probably benign |
Het |
| Folr2 |
T |
C |
7: 101,840,290 (GRCm38) |
|
probably null |
Het |
| Galnt11 |
T |
C |
5: 25,265,338 (GRCm38) |
I595T |
probably damaging |
Het |
| Gm884 |
T |
C |
11: 103,613,460 (GRCm38) |
T2561A |
possibly damaging |
Het |
| Gp5 |
G |
A |
16: 30,309,508 (GRCm38) |
A116V |
possibly damaging |
Het |
| Gpn3 |
T |
C |
5: 122,382,240 (GRCm38) |
|
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,354,659 (GRCm38) |
N221S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 106,874,213 (GRCm38) |
E989G |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,758,092 (GRCm38) |
|
probably null |
Het |
| Josd2 |
T |
C |
7: 44,471,168 (GRCm38) |
S110P |
probably damaging |
Het |
| Kat14 |
C |
A |
2: 144,375,953 (GRCm38) |
T123K |
probably damaging |
Het |
| Lamtor1 |
C |
T |
7: 101,909,764 (GRCm38) |
T48I |
probably damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,718,346 (GRCm38) |
L113P |
probably damaging |
Het |
| Mog |
T |
C |
17: 37,020,541 (GRCm38) |
E89G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 123,038,459 (GRCm38) |
|
probably null |
Het |
| Mtx1 |
T |
C |
3: 89,213,898 (GRCm38) |
Y143C |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,607,027 (GRCm38) |
H410R |
probably damaging |
Het |
| Nkx6-2 |
T |
C |
7: 139,581,570 (GRCm38) |
E233G |
possibly damaging |
Het |
| Oas1h |
A |
G |
5: 120,862,783 (GRCm38) |
E152G |
probably damaging |
Het |
| Olfr936 |
A |
G |
9: 39,046,862 (GRCm38) |
S186P |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,979,953 (GRCm38) |
F222L |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,288,205 (GRCm38) |
S2716G |
probably null |
Het |
| Pla2g4e |
T |
C |
2: 120,171,237 (GRCm38) |
T644A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,955,765 (GRCm38) |
I1918T |
probably damaging |
Het |
| Prrxl1 |
G |
T |
14: 32,608,249 (GRCm38) |
Q136H |
probably damaging |
Het |
| Psmg1 |
A |
T |
16: 95,989,612 (GRCm38) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,128,899 (GRCm38) |
R364C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,025,942 (GRCm38) |
I945V |
possibly damaging |
Het |
| Rgs7bp |
T |
C |
13: 104,951,564 (GRCm38) |
N234S |
probably benign |
Het |
| Rrp7a |
T |
C |
15: 83,119,809 (GRCm38) |
|
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,436,476 (GRCm38) |
R177* |
probably null |
Het |
| Sema4c |
C |
A |
1: 36,550,311 (GRCm38) |
C578F |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,797,743 (GRCm38) |
|
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 92,078,683 (GRCm38) |
T543A |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 137,046,767 (GRCm38) |
F123I |
probably benign |
Het |
| Smtn |
C |
T |
11: 3,522,916 (GRCm38) |
R737H |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,413,265 (GRCm38) |
I14T |
possibly damaging |
Het |
| Stradb |
T |
C |
1: 58,980,440 (GRCm38) |
F43L |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,388,669 (GRCm38) |
D1029G |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,984,715 (GRCm38) |
Y311C |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 136,268,093 (GRCm38) |
N249I |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,330,277 (GRCm38) |
M2134T |
probably benign |
Het |
| Tg |
G |
A |
15: 66,764,337 (GRCm38) |
G591D |
probably damaging |
Het |
| Tm4sf20 |
T |
A |
1: 82,768,363 (GRCm38) |
I19F |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,997,850 (GRCm38) |
K1262E |
probably benign |
Het |
| Ube2r2 |
A |
G |
4: 41,190,742 (GRCm38) |
|
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,961,928 (GRCm38) |
S257P |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,952,355 (GRCm38) |
N1038S |
probably benign |
Het |
| Vmn1r121 |
C |
T |
7: 21,097,613 (GRCm38) |
E301K |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,989,032 (GRCm38) |
H105L |
probably benign |
Het |
| Zgrf1 |
C |
T |
3: 127,561,868 (GRCm38) |
Q248* |
probably null |
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 |
|
|
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 |
|
R5748:Nacad
|
UTSW |
11 |
6,598,370 (GRCm38) |
nonsense |
probably null |
|
|
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'- CAGGCAGGGTAAAATCCTACC -3'
(R):5'- TGAGGAGGCCCTTATAGAGG -3'
Sequencing Primer
(F):5'- AAGTGTCTGGAGCCTCGAG -3'
(R):5'- TTCCGGTCCCCAGAAAGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation