Incidental Mutation 'R5102:Nacad'
ID |
392433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nacad
|
Ensembl Gene |
ENSMUSG00000041073 |
Gene Name |
NAC alpha domain containing |
Synonyms |
mKIAA0363 |
MMRRC Submission |
042690-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5102 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6547823-6556053 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6548528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 1402
(D1402V)
|
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 damaging
Transcript: ENSMUST00000045713
AA Change: D1402V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049490 Gene: ENSMUSG00000041073 AA Change: D1402V
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox4 |
C |
T |
1: 58,279,937 (GRCm39) |
R518C |
probably damaging |
Het |
Apbb2 |
A |
T |
5: 66,469,592 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
C |
T |
10: 79,857,262 (GRCm39) |
P254S |
probably benign |
Het |
Arl4c |
T |
C |
1: 88,629,322 (GRCm39) |
D22G |
probably damaging |
Het |
Asxl1 |
A |
G |
2: 153,242,875 (GRCm39) |
T1142A |
probably benign |
Het |
BC035044 |
T |
C |
6: 128,861,949 (GRCm39) |
|
probably benign |
Het |
Bmp4 |
T |
C |
14: 46,621,458 (GRCm39) |
N362S |
probably damaging |
Het |
Cbll1 |
G |
T |
12: 31,537,912 (GRCm39) |
T280N |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 18,986,971 (GRCm39) |
T401S |
probably benign |
Het |
Cmklr2 |
A |
G |
1: 63,222,326 (GRCm39) |
V303A |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,245,952 (GRCm39) |
M1148L |
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,873,832 (GRCm39) |
D1092G |
probably damaging |
Het |
Cyth2 |
A |
G |
7: 45,460,126 (GRCm39) |
S173P |
probably damaging |
Het |
D6Ertd527e |
A |
T |
6: 87,088,793 (GRCm39) |
I319F |
unknown |
Het |
Dchs1 |
A |
T |
7: 105,421,384 (GRCm39) |
H345Q |
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,476,640 (GRCm39) |
V211E |
probably damaging |
Het |
Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
Dnajb5 |
G |
A |
4: 42,956,639 (GRCm39) |
D109N |
possibly damaging |
Het |
Dner |
A |
T |
1: 84,383,691 (GRCm39) |
N564K |
probably damaging |
Het |
Fam234b |
T |
C |
6: 135,186,282 (GRCm39) |
S97P |
probably benign |
Het |
Fam53b |
G |
A |
7: 132,317,684 (GRCm39) |
R60* |
probably null |
Het |
Fmo3 |
T |
G |
1: 162,791,546 (GRCm39) |
K244Q |
probably benign |
Het |
Golim4 |
A |
G |
3: 75,810,579 (GRCm39) |
I192T |
possibly damaging |
Het |
Gprin1 |
T |
C |
13: 54,887,576 (GRCm39) |
M233V |
probably benign |
Het |
Gtf2f1 |
A |
T |
17: 57,310,626 (GRCm39) |
V443D |
probably damaging |
Het |
Hmgcs2 |
T |
C |
3: 98,187,786 (GRCm39) |
|
probably benign |
Het |
Ide |
T |
A |
19: 37,292,383 (GRCm39) |
I271L |
unknown |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kif14 |
A |
G |
1: 136,444,141 (GRCm39) |
I1378V |
probably benign |
Het |
Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
Lhx6 |
T |
C |
2: 35,984,222 (GRCm39) |
|
probably null |
Het |
Lrp2 |
C |
T |
2: 69,319,502 (GRCm39) |
G2007D |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,709,304 (GRCm39) |
K142R |
probably damaging |
Het |
Macroh2a1 |
C |
G |
13: 56,243,936 (GRCm39) |
|
probably null |
Het |
Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
Mtrfr |
A |
G |
5: 124,476,954 (GRCm39) |
N83D |
probably damaging |
Het |
Ndfip2 |
T |
C |
14: 105,535,539 (GRCm39) |
I275T |
possibly damaging |
Het |
Neb |
A |
C |
2: 52,116,582 (GRCm39) |
V4131G |
possibly damaging |
Het |
Nfe2l1 |
G |
A |
11: 96,712,934 (GRCm39) |
A83V |
probably damaging |
Het |
Nos3 |
A |
G |
5: 24,576,625 (GRCm39) |
D418G |
probably damaging |
Het |
Or12e7 |
A |
T |
2: 87,288,138 (GRCm39) |
M210L |
probably benign |
Het |
Or1n1b |
T |
A |
2: 36,780,056 (GRCm39) |
K268M |
possibly damaging |
Het |
Plcd4 |
A |
G |
1: 74,604,313 (GRCm39) |
T764A |
probably damaging |
Het |
Plppr3 |
G |
T |
10: 79,701,220 (GRCm39) |
P541T |
possibly damaging |
Het |
Polr2a |
A |
G |
11: 69,637,771 (GRCm39) |
I191T |
possibly damaging |
Het |
Pramel18 |
T |
C |
4: 101,766,436 (GRCm39) |
F40S |
probably damaging |
Het |
Rab11fip1 |
T |
C |
8: 27,646,402 (GRCm39) |
K225E |
probably damaging |
Het |
Rara |
A |
T |
11: 98,857,185 (GRCm39) |
Q64L |
possibly damaging |
Het |
Rtkn |
G |
A |
6: 83,126,754 (GRCm39) |
V305M |
probably damaging |
Het |
Sh2b1 |
A |
C |
7: 126,070,408 (GRCm39) |
F399V |
probably benign |
Het |
Slc7a4 |
T |
C |
16: 17,393,482 (GRCm39) |
T106A |
probably damaging |
Het |
Srcap |
G |
A |
7: 127,129,795 (GRCm39) |
G539D |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,869,974 (GRCm39) |
|
probably null |
Het |
Zfp267 |
G |
A |
3: 36,216,814 (GRCm39) |
C55Y |
possibly 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 |
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 |
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'- ACCTTGAACTTCTCTGCTGCAG -3'
(R):5'- GTAGCAATCTAGTAACCCCTCC -3'
Sequencing Primer
(F):5'- GAACTTCTCTGCTGCAGCTTTGTG -3'
(R):5'- CTAAACCCTGGAATGTCCTGAGG -3'
|
Posted On |
2016-06-15 |