Incidental Mutation 'R6931:Nacad'
ID |
540039 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nacad
|
Ensembl Gene |
ENSMUSG00000041073 |
Gene Name |
NAC alpha domain containing |
Synonyms |
mKIAA0363 |
MMRRC Submission |
045326-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6931 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
6547823-6556053 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6551877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 438
(F438S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045713]
|
AlphaFold |
Q5SWP3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045713
AA Change: F438S
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000049490 Gene: ENSMUSG00000041073 AA Change: F438S
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: ENSMUST00000177050
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177391
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,118,561 (GRCm39) |
I15N |
probably damaging |
Het |
2900092C05Rik |
T |
A |
7: 12,246,523 (GRCm39) |
S6R |
unknown |
Het |
Abca6 |
T |
A |
11: 110,135,154 (GRCm39) |
L210F |
probably benign |
Het |
Abcc4 |
T |
C |
14: 118,765,400 (GRCm39) |
Q919R |
probably damaging |
Het |
Adcy1 |
A |
G |
11: 7,100,884 (GRCm39) |
D811G |
possibly damaging |
Het |
Akna |
A |
G |
4: 63,305,339 (GRCm39) |
S476P |
probably benign |
Het |
Ankrd49 |
T |
C |
9: 14,694,122 (GRCm39) |
N15S |
probably benign |
Het |
Apcdd1 |
A |
G |
18: 63,066,979 (GRCm39) |
D31G |
probably damaging |
Het |
Aplp1 |
G |
T |
7: 30,142,625 (GRCm39) |
R106S |
probably damaging |
Het |
Arhgap40 |
T |
C |
2: 158,373,138 (GRCm39) |
L132S |
probably benign |
Het |
Atp8b5 |
G |
T |
4: 43,364,108 (GRCm39) |
|
probably null |
Het |
Axl |
T |
C |
7: 25,460,858 (GRCm39) |
D717G |
probably damaging |
Het |
Bub1 |
T |
A |
2: 127,643,302 (GRCm39) |
D1014V |
probably damaging |
Het |
Cacna2d4 |
T |
A |
6: 119,259,195 (GRCm39) |
V603E |
possibly damaging |
Het |
Cnot11 |
G |
C |
1: 39,579,002 (GRCm39) |
C289S |
probably damaging |
Het |
Coasy |
A |
G |
11: 100,974,407 (GRCm39) |
H191R |
probably benign |
Het |
Cyp11a1 |
A |
T |
9: 57,932,403 (GRCm39) |
N341Y |
possibly damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,589,439 (GRCm39) |
N125S |
probably benign |
Het |
Cyp2j8 |
A |
T |
4: 96,333,018 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
T |
11: 66,008,452 (GRCm39) |
I791K |
possibly damaging |
Het |
Ecm2 |
A |
T |
13: 49,682,487 (GRCm39) |
Q505H |
probably benign |
Het |
Fam135a |
T |
A |
1: 24,124,568 (GRCm39) |
M1L |
probably damaging |
Het |
Fam171a2 |
A |
G |
11: 102,329,260 (GRCm39) |
S500P |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,871,238 (GRCm39) |
S3718P |
possibly damaging |
Het |
Frem1 |
G |
A |
4: 82,888,914 (GRCm39) |
P1085S |
probably damaging |
Het |
Gcfc2 |
A |
G |
6: 81,919,966 (GRCm39) |
I390V |
probably benign |
Het |
Gemin4 |
A |
G |
11: 76,101,782 (GRCm39) |
L993P |
probably damaging |
Het |
Ggnbp2 |
T |
A |
11: 84,723,993 (GRCm39) |
D647V |
probably damaging |
Het |
Gpr84 |
A |
C |
15: 103,217,441 (GRCm39) |
L212R |
probably damaging |
Het |
Hnrnpu |
T |
C |
1: 178,158,997 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
G |
T |
4: 137,268,031 (GRCm39) |
C2116F |
probably damaging |
Het |
Icam4 |
T |
A |
9: 20,941,747 (GRCm39) |
V249E |
probably damaging |
Het |
Itga1 |
T |
C |
13: 115,138,099 (GRCm39) |
N429D |
probably benign |
Het |
Kcns1 |
T |
C |
2: 164,006,758 (GRCm39) |
T402A |
probably damaging |
Het |
Ky |
T |
A |
9: 102,414,826 (GRCm39) |
V246E |
probably damaging |
Het |
Marchf1 |
A |
G |
8: 66,921,144 (GRCm39) |
T529A |
probably benign |
Het |
Med18 |
C |
G |
4: 132,187,194 (GRCm39) |
V102L |
probably damaging |
Het |
Mlst8 |
T |
C |
17: 24,696,249 (GRCm39) |
D160G |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,350,472 (GRCm39) |
I470T |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,136,466 (GRCm39) |
|
probably benign |
Het |
Mup8 |
G |
A |
4: 60,220,322 (GRCm39) |
L137F |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,378,192 (GRCm39) |
L341* |
probably null |
Het |
Necap2 |
C |
A |
4: 140,805,523 (GRCm39) |
|
probably null |
Het |
Nifk |
T |
C |
1: 118,260,078 (GRCm39) |
L163S |
possibly damaging |
Het |
Npsr1 |
A |
G |
9: 24,201,293 (GRCm39) |
I73V |
probably benign |
Het |
Nup50l |
T |
C |
6: 96,142,529 (GRCm39) |
T172A |
possibly damaging |
Het |
Oog3 |
C |
T |
4: 143,885,923 (GRCm39) |
C225Y |
probably benign |
Het |
Or2d2 |
A |
G |
7: 106,728,108 (GRCm39) |
L164P |
probably damaging |
Het |
Or4b13 |
A |
T |
2: 90,083,121 (GRCm39) |
C70* |
probably null |
Het |
Or4c100 |
T |
A |
2: 88,356,538 (GRCm39) |
C204S |
possibly damaging |
Het |
Or4p18 |
G |
A |
2: 88,232,408 (GRCm39) |
T290I |
probably benign |
Het |
Plagl2 |
C |
A |
2: 153,077,863 (GRCm39) |
K39N |
probably benign |
Het |
Plcg2 |
T |
A |
8: 118,284,058 (GRCm39) |
D118E |
probably benign |
Het |
Ppp4r3b |
A |
T |
11: 29,161,786 (GRCm39) |
K720I |
possibly damaging |
Het |
Prmt3 |
A |
T |
7: 49,478,764 (GRCm39) |
T442S |
probably benign |
Het |
Prr14l |
G |
A |
5: 32,988,035 (GRCm39) |
H487Y |
probably damaging |
Het |
Psmb3 |
G |
A |
11: 97,594,797 (GRCm39) |
V63I |
probably benign |
Het |
Psmc6 |
T |
A |
14: 45,581,182 (GRCm39) |
I326K |
possibly damaging |
Het |
Ptcd1 |
T |
C |
5: 145,091,885 (GRCm39) |
T405A |
probably benign |
Het |
Rbm33 |
G |
A |
5: 28,615,743 (GRCm39) |
V29M |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Scarb1 |
T |
A |
5: 125,361,783 (GRCm39) |
I107F |
probably damaging |
Het |
Slc39a12 |
A |
G |
2: 14,394,186 (GRCm39) |
S19G |
probably benign |
Het |
Slc44a5 |
T |
C |
3: 153,964,143 (GRCm39) |
V503A |
probably benign |
Het |
Slc9a9 |
T |
C |
9: 94,552,139 (GRCm39) |
S9P |
possibly damaging |
Het |
Snrnp35 |
A |
C |
5: 124,628,764 (GRCm39) |
R192S |
possibly damaging |
Het |
Tbx15 |
T |
C |
3: 99,259,467 (GRCm39) |
L446P |
probably damaging |
Het |
Tlnrd1 |
A |
G |
7: 83,531,805 (GRCm39) |
F209L |
probably benign |
Het |
Tmprss12 |
C |
T |
15: 100,183,149 (GRCm39) |
R164C |
probably damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,244,644 (GRCm39) |
F111Y |
possibly damaging |
Het |
Trib2 |
A |
T |
12: 15,843,640 (GRCm39) |
M198K |
probably benign |
Het |
Ttll8 |
A |
G |
15: 88,798,507 (GRCm39) |
S743P |
possibly damaging |
Het |
Ush2a |
A |
T |
1: 188,460,580 (GRCm39) |
N2614Y |
probably benign |
Het |
Usp6nl |
G |
A |
2: 6,435,269 (GRCm39) |
V343I |
possibly damaging |
Het |
Vrtn |
C |
A |
12: 84,697,016 (GRCm39) |
Q589K |
probably benign |
Het |
Zbed5 |
T |
A |
5: 129,932,170 (GRCm39) |
Y706* |
probably null |
Het |
Zc3h10 |
A |
G |
10: 128,380,553 (GRCm39) |
V268A |
probably damaging |
Het |
Zfp442 |
C |
T |
2: 150,252,860 (GRCm39) |
|
probably null |
Het |
Zpld2 |
A |
T |
4: 133,920,464 (GRCm39) |
M567K |
probably benign |
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 |
R5748:Nacad
|
UTSW |
11 |
6,548,370 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- TCTGTATTCTGAGCACTGGGC -3'
(R):5'- TTTGACCCAAACTTCCTGGC -3'
Sequencing Primer
(F):5'- CACTGGGCTGGGCATGG -3'
(R):5'- TGGCCAACGACCCGATGATC -3'
|
Posted On |
2018-11-06 |