Incidental Mutation 'IGL00903:Nacad'
ID 28489
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 # IGL00903
Quality Score
Status
Chromosome 11
Chromosomal Location 6547823-6556053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6550632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 853 (T853K)
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 probably damaging
Transcript: ENSMUST00000045713
AA Change: T853K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: T853K

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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsk A G 13: 76,246,487 (GRCm39) probably null Het
As3mt A G 19: 46,700,673 (GRCm39) I159V probably benign Het
Atpsckmt T C 15: 31,606,261 (GRCm39) V73A possibly damaging Het
Ctsll3 C A 13: 60,948,075 (GRCm39) V201L probably benign Het
Dapk1 T C 13: 60,909,211 (GRCm39) Y1275H probably damaging Het
Erap1 G A 13: 74,821,826 (GRCm39) R727H probably benign Het
Fcrl6 T A 1: 172,426,674 (GRCm39) T91S probably benign Het
Gvin1 T C 7: 105,757,377 (GRCm39) E2364G probably benign Het
Hacd3 T C 9: 64,911,535 (GRCm39) probably benign Het
Hcls1 T A 16: 36,776,383 (GRCm39) probably null Het
Igf2r C T 17: 12,902,754 (GRCm39) R2432H possibly damaging Het
Kif27 C A 13: 58,492,486 (GRCm39) V218F possibly damaging Het
Klhl20 T C 1: 160,918,076 (GRCm39) Y70C probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lcn12 G T 2: 25,383,332 (GRCm39) N15K possibly damaging Het
Mrgpra1 T C 7: 46,985,326 (GRCm39) M118V probably benign Het
Nos3 A T 5: 24,574,860 (GRCm39) Q293L probably damaging Het
Prkca C T 11: 107,874,800 (GRCm39) V381M probably damaging Het
Ptcd3 A G 6: 71,884,828 (GRCm39) F37S possibly damaging Het
Ptgs2 A G 1: 149,980,175 (GRCm39) Y371C probably damaging Het
Pygl T C 12: 70,254,516 (GRCm39) Y143C probably damaging Het
Samhd1 A G 2: 156,949,343 (GRCm39) probably benign Het
Scube1 T A 15: 83,587,702 (GRCm39) H89L probably damaging Het
Tmem59l G A 8: 70,938,315 (GRCm39) probably benign Het
Vmn2r108 A G 17: 20,682,774 (GRCm39) V810A probably damaging Het
Vmn2r61 T G 7: 41,949,935 (GRCm39) F785C probably damaging Het
Zfas1 G T 2: 166,907,406 (GRCm39) probably benign Het
Other mutations in Nacad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Nacad APN 11 6,550,921 (GRCm39) missense probably benign 0.24
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
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 2013-04-17