Incidental Mutation 'R0331:Nacad'
ID 26071
Institutional Source Beutler Lab
Gene Symbol Nacad
Ensembl Gene ENSMUSG00000041073
Gene Name NAC alpha domain containing
Synonyms mKIAA0363
MMRRC Submission 038540-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0331 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 6547823-6556053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6549441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1250 (Q1250L)
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: Q1250L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: Q1250L

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 unknown
Transcript: ENSMUST00000177391
AA Change: Q166L
Meta Mutation Damage Score 0.1559 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (81/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,956,021 (GRCm39) T79S probably benign Het
Abtb1 T C 6: 88,817,684 (GRCm39) probably benign Het
Acot12 G A 13: 91,908,183 (GRCm39) probably null Het
Adamts4 T A 1: 171,078,541 (GRCm39) S54T probably benign Het
Adgrl4 T C 3: 151,203,577 (GRCm39) S96P probably benign Het
Aip G T 19: 4,168,247 (GRCm39) T40K probably damaging Het
Anapc4 A G 5: 53,012,984 (GRCm39) probably benign Het
Asz1 A G 6: 18,103,618 (GRCm39) probably benign Het
Atf7ip A G 6: 136,538,161 (GRCm39) T465A possibly damaging Het
Atp11a C T 8: 12,866,953 (GRCm39) Q127* probably null Het
Axin1 A G 17: 26,362,081 (GRCm39) R142G probably damaging Het
Bcat1 T A 6: 144,993,040 (GRCm39) E86V probably benign Het
Brd4 G A 17: 32,421,489 (GRCm39) P749L probably benign Het
C1ra G A 6: 124,496,394 (GRCm39) probably null Het
Capza2 A T 6: 17,665,102 (GRCm39) N237I probably benign Het
Cd2ap A T 17: 43,116,192 (GRCm39) V556E probably benign Het
Cfap65 G A 1: 74,968,460 (GRCm39) P124L probably damaging Het
Cfap65 G T 1: 74,968,461 (GRCm39) P124T probably damaging Het
Cftr T C 6: 18,235,225 (GRCm39) V488A possibly damaging Het
Ckmt1 A T 2: 121,193,337 (GRCm39) probably null Het
Cmya5 T G 13: 93,280,911 (GRCm39) E35A possibly damaging Het
Col7a1 A G 9: 108,796,570 (GRCm39) probably benign Het
Crmp1 C T 5: 37,422,657 (GRCm39) L155F possibly damaging Het
Cyp2d10 T A 15: 82,291,227 (GRCm39) T33S probably benign Het
Dhdh T C 7: 45,137,544 (GRCm39) K48E probably benign Het
Dlst T C 12: 85,165,586 (GRCm39) V103A probably damaging Het
Dohh C T 10: 81,223,646 (GRCm39) T233I probably benign Het
Dvl2 C A 11: 69,897,043 (GRCm39) probably benign Het
Eipr1 C T 12: 28,914,703 (GRCm39) Q286* probably null Het
Enpp6 C A 8: 47,535,484 (GRCm39) T343K probably damaging Het
Fbxw11 T A 11: 32,661,895 (GRCm39) F112I probably damaging Het
Gdpd4 T A 7: 97,622,215 (GRCm39) N231K probably benign Het
Gm6370 A T 5: 146,430,576 (GRCm39) T254S probably benign Het
Hapln4 G T 8: 70,537,159 (GRCm39) Q31H probably damaging Het
Hic1 T A 11: 75,056,316 (GRCm39) T858S possibly damaging Het
Isg20l2 T C 3: 87,839,092 (GRCm39) L101P probably damaging Het
Itga10 T C 3: 96,559,799 (GRCm39) Y485H probably damaging Het
Itgal T A 7: 126,905,853 (GRCm39) probably null Het
Itln1 T C 1: 171,359,117 (GRCm39) N62S probably damaging Het
Kdm4b T C 17: 56,693,289 (GRCm39) probably benign Het
Lct T C 1: 128,226,479 (GRCm39) probably benign Het
Lman2 A T 13: 55,500,829 (GRCm39) H123Q probably damaging Het
Lztr1 T A 16: 17,342,101 (GRCm39) probably benign Het
Myo3b G T 2: 69,925,605 (GRCm39) G24V probably damaging Het
Ncor2 A T 5: 125,161,981 (GRCm39) M431K unknown Het
Nek9 T A 12: 85,374,149 (GRCm39) probably benign Het
Neu1 C A 17: 35,153,146 (GRCm39) N255K possibly damaging Het
Nf2 T A 11: 4,744,914 (GRCm39) T75S probably benign Het
Nipal4 T A 11: 46,041,040 (GRCm39) D385V probably damaging Het
Olah T A 2: 3,343,511 (GRCm39) N245I probably damaging Het
Or5p54 G T 7: 107,554,077 (GRCm39) L76F probably benign Het
Pag1 T A 3: 9,767,030 (GRCm39) T90S probably benign Het
Pald1 A G 10: 61,176,708 (GRCm39) probably null Het
Parva A G 7: 112,144,005 (GRCm39) M98V probably benign Het
Paxbp1 T A 16: 90,834,255 (GRCm39) D177V possibly damaging Het
Paxip1 A G 5: 27,970,230 (GRCm39) I587T probably damaging Het
Pclo T C 5: 14,730,390 (GRCm39) probably benign Het
Pdgfra T A 5: 75,355,713 (GRCm39) D1074E probably damaging Het
Pef1 A T 4: 130,021,241 (GRCm39) D265V probably damaging Het
Plekhh2 G A 17: 84,893,794 (GRCm39) E870K possibly damaging Het
Plscr4 G A 9: 92,364,695 (GRCm39) G40D probably damaging Het
Psg18 A G 7: 18,087,233 (GRCm39) Y142H probably benign Het
Ptchd3 A T 11: 121,733,017 (GRCm39) M636L probably benign Het
Rab2a A G 4: 8,572,559 (GRCm39) D51G probably benign Het
Rnf139 T A 15: 58,771,755 (GRCm39) D593E probably benign Het
Septin7 A G 9: 25,217,552 (GRCm39) N422S probably benign Het
Shprh T C 10: 11,069,914 (GRCm39) probably benign Het
Slc7a6os A G 8: 106,937,199 (GRCm39) I87T probably damaging Het
Slc7a7 A G 14: 54,615,381 (GRCm39) probably benign Het
Spc24 G T 9: 21,668,609 (GRCm39) N129K possibly damaging Het
Strip2 C T 6: 29,926,559 (GRCm39) T148I probably benign Het
Tmem150c A C 5: 100,234,132 (GRCm39) probably null Het
Trav13-5 A G 14: 54,033,205 (GRCm39) N38S probably benign Het
Ttn G T 2: 76,641,364 (GRCm39) Y11801* probably null Het
Usp37 A T 1: 74,493,223 (GRCm39) L688* probably null Het
Usp38 T C 8: 81,722,469 (GRCm39) I351V probably benign Het
Vav2 T A 2: 27,186,187 (GRCm39) M223L probably benign Het
Wdr36 A G 18: 32,985,968 (GRCm39) I557M possibly damaging Het
Wwc2 A T 8: 48,333,239 (GRCm39) M259K probably benign Het
Znfx1 G A 2: 166,888,898 (GRCm39) S770L 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
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
Predicted Primers PCR Primer
(F):5'- TACTCATCCAGCTCACTGGACGAC -3'
(R):5'- AGAATAGGTTTCTGGACCCTGACCC -3'

Sequencing Primer
(F):5'- ATGAGGGCCTCTTACTATGCAG -3'
(R):5'- TACCCTCGACAGGGCATC -3'
Posted On 2013-04-16