Incidental Mutation 'R9328:Nacad'
| ID |
706667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nacad
|
| Ensembl Gene |
ENSMUSG00000041073 |
| Gene Name |
NAC alpha domain containing |
| Synonyms |
mKIAA0363 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9328 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
6597823-6606053 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6602417 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 258
(H258R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045713]
|
| AlphaFold |
Q5SWP3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045713
AA Change: H258R
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: H258R
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C10Rik |
A |
G |
7: 38,194,848 (GRCm38) |
T102A |
probably benign |
Het |
| 1700109H08Rik |
A |
G |
5: 3,582,161 (GRCm38) |
K164E |
possibly damaging |
Het |
| 2410089E03Rik |
A |
G |
15: 8,186,208 (GRCm38) |
D416G |
probably damaging |
Het |
| 2610042L04Rik |
C |
T |
14: 4,350,013 (GRCm38) |
Q74* |
probably null |
Het |
| Adgrb2 |
T |
A |
4: 130,021,570 (GRCm38) |
M1381K |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,472,404 (GRCm38) |
D3975Y |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,261,102 (GRCm38) |
E382K |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,658,919 (GRCm38) |
V636A |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,835,539 (GRCm38) |
V498A |
possibly damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,275,059 (GRCm38) |
T1047I |
possibly damaging |
Het |
| BC004004 |
A |
T |
17: 29,282,708 (GRCm38) |
T74S |
possibly damaging |
Het |
| Bend3 |
A |
G |
10: 43,511,423 (GRCm38) |
D604G |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,831,717 (GRCm38) |
V373E |
probably damaging |
Het |
| Bsph2 |
A |
T |
7: 13,556,839 (GRCm38) |
D38E |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,658,074 (GRCm38) |
I474V |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,902,447 (GRCm38) |
N292S |
possibly damaging |
Het |
| Cd1d1 |
A |
T |
3: 86,998,152 (GRCm38) |
V178E |
possibly damaging |
Het |
| Cdca2 |
T |
A |
14: 67,693,682 (GRCm38) |
R521W |
probably damaging |
Het |
| Champ1 |
A |
G |
8: 13,879,392 (GRCm38) |
K517E |
probably damaging |
Het |
| Chrna9 |
T |
C |
5: 65,971,226 (GRCm38) |
F259S |
probably damaging |
Het |
| Chuk |
A |
T |
19: 44,096,983 (GRCm38) |
C241* |
probably null |
Het |
| Clns1a |
A |
G |
7: 97,714,033 (GRCm38) |
Y204C |
probably benign |
Het |
| Cyp2j7 |
A |
T |
4: 96,227,632 (GRCm38) |
N192K |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 170,001,935 (GRCm38) |
V250A |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,727,441 (GRCm38) |
S229G |
probably damaging |
Het |
| Dmrt1 |
A |
T |
19: 25,545,867 (GRCm38) |
H194L |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 99,079,827 (GRCm38) |
F138I |
|
Het |
| Dsg2 |
T |
C |
18: 20,582,790 (GRCm38) |
V263A |
possibly damaging |
Het |
| Dusp16 |
A |
G |
6: 134,739,939 (GRCm38) |
L135P |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,073,913 (GRCm38) |
N414S |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 20,960,374 (GRCm38) |
Y177C |
probably damaging |
Het |
| Fam83e |
A |
T |
7: 45,723,488 (GRCm38) |
R174S |
probably benign |
Het |
| Fgf4 |
C |
T |
7: 144,862,927 (GRCm38) |
L199F |
probably damaging |
Het |
| Fignl2 |
A |
G |
15: 101,053,390 (GRCm38) |
L337P |
unknown |
Het |
| Gatsl3 |
T |
C |
11: 4,220,423 (GRCm38) |
F140L |
probably benign |
Het |
| Gm15448 |
T |
A |
7: 3,824,581 (GRCm38) |
R192S |
unknown |
Het |
| Gm4353 |
T |
C |
7: 116,083,489 (GRCm38) |
R286G |
probably damaging |
Het |
| Gm436 |
T |
A |
4: 144,674,686 (GRCm38) |
H76L |
probably benign |
Het |
| Gm5142 |
T |
C |
14: 59,178,677 (GRCm38) |
S11G |
probably benign |
Het |
| Gpr151 |
A |
G |
18: 42,579,205 (GRCm38) |
V136A |
probably damaging |
Het |
| Ift80 |
T |
A |
3: 68,940,150 (GRCm38) |
I338F |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 115,989,799 (GRCm38) |
S693G |
probably benign |
Het |
| Kif13a |
T |
A |
13: 46,798,362 (GRCm38) |
I812F |
probably damaging |
Het |
| Krit1 |
T |
C |
5: 3,812,577 (GRCm38) |
|
probably null |
Het |
| Mapk6 |
T |
C |
9: 75,397,970 (GRCm38) |
D55G |
possibly damaging |
Het |
| Matn3 |
A |
G |
12: 8,952,033 (GRCm38) |
I82V |
possibly damaging |
Het |
| Mecom |
T |
A |
3: 30,009,845 (GRCm38) |
D32V |
unknown |
Het |
| Ndufaf5 |
T |
A |
2: 140,188,832 (GRCm38) |
S213T |
possibly damaging |
Het |
| Nphp1 |
C |
T |
2: 127,740,972 (GRCm38) |
D674N |
possibly damaging |
Het |
| Nsmaf |
A |
G |
4: 6,426,412 (GRCm38) |
L250P |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,347,838 (GRCm38) |
S571P |
probably benign |
Het |
| Olfr391-ps |
T |
C |
11: 73,799,652 (GRCm38) |
Y35C |
probably damaging |
Het |
| Olfr641 |
T |
A |
7: 104,040,061 (GRCm38) |
D88E |
|
Het |
| Olfr944 |
T |
C |
9: 39,217,879 (GRCm38) |
I174T |
probably damaging |
Het |
| Osbpl11 |
A |
G |
16: 33,226,875 (GRCm38) |
I403V |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm38) |
|
probably benign |
Het |
| Plat |
A |
G |
8: 22,778,117 (GRCm38) |
R300G |
probably damaging |
Het |
| Ppid |
T |
C |
3: 79,597,752 (GRCm38) |
I134T |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,457,771 (GRCm38) |
I565V |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,255,456 (GRCm38) |
|
probably null |
Het |
| Sema4a |
C |
T |
3: 88,438,306 (GRCm38) |
W490* |
probably null |
Het |
| Sept3 |
A |
G |
15: 82,289,238 (GRCm38) |
Y257C |
probably damaging |
Het |
| Sh3rf2 |
C |
A |
18: 42,141,096 (GRCm38) |
F442L |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,342,018 (GRCm38) |
I339M |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,687,768 (GRCm38) |
N62S |
possibly damaging |
Het |
| Slc44a5 |
T |
C |
3: 154,259,041 (GRCm38) |
I526T |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 80,720,749 (GRCm38) |
S402G |
probably benign |
Het |
| Son |
T |
A |
16: 91,655,757 (GRCm38) |
V464E |
possibly damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,797,511 (GRCm38) |
K1144E |
probably damaging |
Het |
| Stxbp6 |
A |
G |
12: 44,855,876 (GRCm38) |
L204P |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,444,263 (GRCm38) |
R337G |
unknown |
Het |
| Tgm4 |
T |
C |
9: 123,056,632 (GRCm38) |
V413A |
possibly damaging |
Het |
| Tmem131 |
G |
A |
1: 36,819,155 (GRCm38) |
Q704* |
probably null |
Het |
| Tmpo |
T |
C |
10: 91,162,963 (GRCm38) |
K321E |
probably damaging |
Het |
| Trim75 |
G |
T |
8: 64,982,663 (GRCm38) |
N378K |
probably benign |
Het |
| Tspan18 |
T |
A |
2: 93,205,720 (GRCm38) |
I227F |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,711,182 (GRCm38) |
W33820* |
probably null |
Het |
| Urb2 |
T |
A |
8: 124,047,295 (GRCm38) |
Y1522N |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 137,018,309 (GRCm38) |
N138D |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 43,297,904 (GRCm38) |
H877Q |
possibly 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 |
|
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 |
|
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'- TCTAGGTCATCTGCCACTGAC -3'
(R):5'- CAGGTCATCGCTTCACCTAG -3'
Sequencing Primer
(F):5'- ATCTGCCACTGACCCTGATGG -3'
(R):5'- TCATCGCTTCACCTAGGGCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation