Incidental Mutation 'R0330:Nacad'
ID 26002
Institutional Source Beutler Lab
Gene Symbol Nacad
Ensembl Gene ENSMUSG00000041073
Gene Name NAC alpha domain containing
Synonyms mKIAA0363
MMRRC Submission 038539-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0330 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 6547823-6556053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6550903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 763 (S763P)
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 benign
Transcript: ENSMUST00000045713
AA Change: S763P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: S763P

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: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,038 (GRCm39) N120S probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
AI661453 G A 17: 47,757,571 (GRCm39) R76Q probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arhgap12 T A 18: 6,039,382 (GRCm39) D455V probably damaging Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Arhgef12 A C 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Arhgef2 A G 3: 88,549,808 (GRCm39) H592R probably damaging Het
BC049715 A G 6: 136,817,035 (GRCm39) T92A possibly damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Capn8 T A 1: 182,457,703 (GRCm39) I689N probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cep57 G A 9: 13,728,281 (GRCm39) R148W probably damaging Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Chd3 T G 11: 69,247,159 (GRCm39) D1003A probably damaging Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cldn13 A G 5: 134,944,176 (GRCm39) V3A probably benign Het
Col17a1 T C 19: 47,658,871 (GRCm39) T413A probably benign Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fanca A T 8: 124,000,911 (GRCm39) C1156* probably null Het
Flot2 T A 11: 77,949,784 (GRCm39) I322N possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Gtf2i T C 5: 134,280,740 (GRCm39) E518G probably damaging Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Impg2 A G 16: 56,072,627 (GRCm39) Y353C probably damaging Het
Kank1 A G 19: 25,401,677 (GRCm39) K1095E probably benign Het
Kcnh4 C T 11: 100,648,569 (GRCm39) C45Y probably damaging Het
Kif13b A G 14: 65,040,669 (GRCm39) T1590A probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrp1b A T 2: 40,591,773 (GRCm39) C73* probably null Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Med12l A G 3: 59,135,123 (GRCm39) E757G probably damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myof A C 19: 37,924,326 (GRCm39) I1297S probably damaging Het
Nbea A G 3: 55,550,238 (GRCm39) V2730A probably benign Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Optn A T 2: 5,039,066 (GRCm39) N352K possibly damaging Het
Or10k2 A G 8: 84,268,142 (GRCm39) Y123C probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7g16 A G 9: 18,726,937 (GRCm39) Y218H probably damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Plaat5 T A 19: 7,614,663 (GRCm39) probably null Het
Plb1 T A 5: 32,512,701 (GRCm39) F1353Y probably damaging Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pygo2 T A 3: 89,340,461 (GRCm39) N286K possibly damaging Het
Rttn G A 18: 89,004,204 (GRCm39) probably null Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Sidt2 A G 9: 45,866,200 (GRCm39) I2T probably benign Het
Slc12a3 A T 8: 95,072,974 (GRCm39) N699I possibly damaging Het
Slc25a30 G A 14: 76,000,112 (GRCm39) Q285* probably null Het
Slc4a9 A T 18: 36,668,592 (GRCm39) H724L probably damaging Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stac3 C A 10: 127,343,616 (GRCm39) probably null Het
Stk32a A G 18: 43,446,566 (GRCm39) K339E probably benign Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tbc1d16 A G 11: 119,049,555 (GRCm39) probably null Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Trappc12 A G 12: 28,797,259 (GRCm39) V91A probably benign Het
Trim46 G T 3: 89,143,820 (GRCm39) P536Q probably damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Vps4a A C 8: 107,769,698 (GRCm39) I336L probably benign Het
Xylb T C 9: 119,210,653 (GRCm39) S379P probably damaging Het
Zbtb37 T C 1: 160,860,066 (GRCm39) T80A probably benign Het
Zfhx3 A G 8: 109,675,589 (GRCm39) D2213G probably damaging Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging Het
Zfp804b A T 5: 6,821,029 (GRCm39) I642N possibly damaging Het
Zfp804b A T 5: 6,821,994 (GRCm39) N356K possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTAAGCCTTGCAGCAATGAAGGTG -3'
(R):5'- TGTGTCACAGTACTCCCTGATGTCC -3'

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