Incidental Mutation 'R7556:Nacad'
ID 584788
Institutional Source Beutler Lab
Gene Symbol Nacad
Ensembl Gene ENSMUSG00000041073
Gene Name NAC alpha domain containing
Synonyms mKIAA0363
MMRRC Submission 045624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7556 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 6547823-6556053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6551272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 640 (V640M)
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: V640M

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: V640M

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C T 9: 46,221,611 (GRCm39) W11* probably null Het
A2ml1 A G 6: 128,546,927 (GRCm39) S401P probably damaging Het
Adamtsl1 T A 4: 86,195,358 (GRCm39) Y592N probably benign Het
Adh6b C T 3: 138,058,546 (GRCm39) T76I probably damaging Het
Aebp2 C A 6: 140,623,137 (GRCm39) P503Q probably benign Het
Ankrd2 A G 19: 42,028,839 (GRCm39) D134G Het
Atf7ip T C 6: 136,538,239 (GRCm39) S491P probably damaging Het
Atp1a3 T C 7: 24,680,991 (GRCm39) D832G probably benign Het
Atrnl1 G A 19: 57,643,278 (GRCm39) V389I probably benign Het
Bahcc1 T C 11: 120,178,589 (GRCm39) S2383P probably damaging Het
Brd9 A G 13: 74,092,886 (GRCm39) D292G possibly damaging Het
Cacna1e G T 1: 154,348,419 (GRCm39) Q781K probably benign Het
Ccdc9 T C 7: 16,018,491 (GRCm39) probably benign Het
Cdc42ep4 C G 11: 113,619,366 (GRCm39) E342Q probably damaging Het
Celf3 C T 3: 94,387,590 (GRCm39) T54M probably damaging Het
Cenpn T C 8: 117,664,008 (GRCm39) Y267H probably damaging Het
Chrnb4 T C 9: 54,942,339 (GRCm39) T312A probably benign Het
Clcn3 T A 8: 61,382,521 (GRCm39) T383S probably damaging Het
Cln3 T C 7: 126,174,242 (GRCm39) Q327R probably damaging Het
Cnep1r1 T C 8: 88,851,761 (GRCm39) L50P probably damaging Het
Cnot6 T C 11: 49,566,144 (GRCm39) N512S probably benign Het
Col7a1 T A 9: 108,811,533 (GRCm39) probably null Het
Cryba4 C T 5: 112,398,969 (GRCm39) R25Q probably damaging Het
Dnah5 A G 15: 28,290,389 (GRCm39) I1260V probably null Het
Dock2 G T 11: 34,611,778 (GRCm39) T195K probably benign Het
Dpp9 A T 17: 56,497,012 (GRCm39) I740N possibly damaging Het
Fbxl21 A T 13: 56,674,741 (GRCm39) N31Y probably benign Het
Frat1 G A 19: 41,818,959 (GRCm39) R118Q possibly damaging Het
Gna11 A G 10: 81,367,208 (GRCm39) F228S Het
Golgb1 A T 16: 36,736,155 (GRCm39) M1842L probably benign Het
Got1 A T 19: 43,491,469 (GRCm39) M327K probably damaging Het
H4c9 A G 13: 22,225,414 (GRCm39) I27T probably damaging Het
Hexa T A 9: 59,470,582 (GRCm39) L468Q probably damaging Het
Ift57 G A 16: 49,526,491 (GRCm39) V178I probably benign Het
Kbtbd13 T C 9: 65,298,757 (GRCm39) T60A probably benign Het
Klk1b5 A G 7: 43,496,649 (GRCm39) T194A probably damaging Het
Krtap16-3 C A 16: 88,759,666 (GRCm39) G16C unknown Het
Lamb3 T C 1: 193,014,757 (GRCm39) S639P probably benign Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mcf2l A G 8: 13,023,071 (GRCm39) T86A probably damaging Het
Mecom G T 3: 30,041,220 (GRCm39) H125N probably benign Het
Med18 T C 4: 132,187,247 (GRCm39) H84R probably benign Het
Muc2 A G 7: 141,307,439 (GRCm39) Y798C Het
Mycbp T C 4: 123,799,060 (GRCm39) Y17H probably damaging Het
Ncoa1 C T 12: 4,320,794 (GRCm39) V1092I probably damaging Het
Nomo1 A G 7: 45,715,642 (GRCm39) E696G probably damaging Het
Notch4 G A 17: 34,794,444 (GRCm39) C741Y probably damaging Het
Or10g7 A G 9: 39,905,978 (GRCm39) N291D probably damaging Het
Or6d12 C T 6: 116,493,697 (GRCm39) Q320* probably null Het
Osbpl10 C A 9: 115,036,692 (GRCm39) H229Q probably damaging Het
Pif1 A T 9: 65,496,993 (GRCm39) probably null Het
Plk2 T G 13: 110,533,122 (GRCm39) probably null Het
Ppp1r42 T C 1: 10,065,408 (GRCm39) H172R probably benign Het
Ring1 A G 17: 34,240,688 (GRCm39) I363T possibly damaging Het
Rnf168 T G 16: 32,117,863 (GRCm39) Y475D probably damaging Het
Sbf2 T A 7: 109,913,260 (GRCm39) K1671N probably benign Het
Sema6d A G 2: 124,496,109 (GRCm39) N51S probably damaging Het
Setx C A 2: 29,036,505 (GRCm39) Q997K possibly damaging Het
Skint5 T G 4: 113,425,162 (GRCm39) Q1088P unknown Het
Slc22a27 T C 19: 7,843,119 (GRCm39) D528G probably damaging Het
Slc6a7 T A 18: 61,140,514 (GRCm39) K173* probably null Het
Smc2 T C 4: 52,457,379 (GRCm39) F380L probably benign Het
Spata31d1a T C 13: 59,849,798 (GRCm39) M777V probably benign Het
Stkld1 A T 2: 26,837,307 (GRCm39) N319I possibly damaging Het
Tanc2 T C 11: 105,799,857 (GRCm39) V93A Het
Tbx20 T C 9: 24,661,573 (GRCm39) probably null Het
Trbv20 G A 6: 41,165,715 (GRCm39) V47I probably benign Het
Trip4 A T 9: 65,782,155 (GRCm39) C192* probably null Het
Tsbp1 A T 17: 34,656,691 (GRCm39) I103F unknown Het
Tulp2 A G 7: 45,168,005 (GRCm39) probably null Het
Ush2a C A 1: 188,689,690 (GRCm39) P5084Q probably benign Het
Virma T C 4: 11,518,927 (GRCm39) Y675H probably damaging Het
Vmn2r102 T A 17: 19,898,093 (GRCm39) N369K probably benign Het
Vmn2r59 A T 7: 41,695,233 (GRCm39) M393K probably damaging Het
Vmn2r69 GAAAA GAAAAA 7: 85,060,768 (GRCm39) probably null Het
Xpot A G 10: 121,449,411 (GRCm39) S30P probably benign Het
Zfp947 T C 17: 22,364,597 (GRCm39) Y359C probably benign 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
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
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'- AATACCACGGGGACATCAGG -3'
(R):5'- TGGGGAACAAAGTTGACCTG -3'

Sequencing Primer
(F):5'- GGAGTACTGTGACACACCCTTC -3'
(R):5'- AAGTATCCAAGGCTCTTCCTGAG -3'
Posted On 2019-10-17