Incidental Mutation 'IGL02531:Nacad'
ID 297305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nacad
Ensembl Gene ENSMUSG00000041073
Gene Name NAC alpha domain containing
Synonyms mKIAA0363
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02531
Quality Score
Status
Chromosome 11
Chromosomal Location 6547823-6556053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6548580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1385 (N1385D)
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

DomainStartEndE-ValueType
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: N1385D

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: N1385D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,933,429 (GRCm39) H467N unknown Het
Alb A G 5: 90,615,307 (GRCm39) D273G probably damaging Het
Arap3 A G 18: 38,122,804 (GRCm39) S531P probably damaging Het
Bmpr2 T A 1: 59,884,873 (GRCm39) probably null Het
Cfhr4 T C 1: 139,702,307 (GRCm39) K59R probably benign Het
Chd7 G A 4: 8,854,134 (GRCm39) R1902H probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b13 A T 7: 25,761,030 (GRCm39) H29L possibly damaging Het
Enpp5 G T 17: 44,391,843 (GRCm39) V91F probably damaging Het
Fam210b T C 2: 172,194,675 (GRCm39) Y176H probably damaging Het
Fam83b T C 9: 76,399,282 (GRCm39) E607G possibly damaging Het
Hhla1 C T 15: 65,839,256 (GRCm39) probably benign Het
Kdm3b A G 18: 34,928,782 (GRCm39) T178A probably benign Het
Klf1 T A 8: 85,631,437 (GRCm39) F334I probably damaging Het
Klra8 A G 6: 130,095,933 (GRCm39) S220P possibly damaging Het
Medag A G 5: 149,345,616 (GRCm39) N99S probably benign Het
Muc6 T C 7: 141,216,853 (GRCm39) T2607A possibly damaging Het
Mug2 T G 6: 122,049,730 (GRCm39) L921R probably damaging Het
Nin A G 12: 70,067,706 (GRCm39) F1983L probably benign Het
Nipal4 T C 11: 46,042,152 (GRCm39) I176M probably damaging Het
Orc6 T C 8: 86,029,998 (GRCm39) S47P probably damaging Het
Ovch2 C T 7: 107,389,405 (GRCm39) C341Y probably damaging Het
Polq T A 16: 36,882,736 (GRCm39) H1633Q possibly damaging Het
Rab23 T C 1: 33,777,361 (GRCm39) probably benign Het
Rai14 A G 15: 10,574,868 (GRCm39) S697P probably damaging Het
Rnf213 T C 11: 119,327,628 (GRCm39) F1872L probably benign Het
Sdhc T C 1: 170,963,587 (GRCm39) H127R probably damaging Het
Snx9 T C 17: 5,942,095 (GRCm39) V74A probably benign Het
Spata31d1d A G 13: 59,875,748 (GRCm39) S596P possibly damaging Het
Syt14 T C 1: 192,584,242 (GRCm39) *78W probably null Het
Thoc1 A G 18: 9,970,258 (GRCm39) T203A probably benign Het
Trmt13 A G 3: 116,385,840 (GRCm39) probably null Het
Ttc28 A G 5: 111,373,716 (GRCm39) I1020V probably damaging Het
Vmn2r16 A G 5: 109,488,134 (GRCm39) T336A probably damaging Het
Other mutations in Nacad
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16