Incidental Mutation 'R4471:Ankdd1a'
ID 329440
Institutional Source Beutler Lab
Gene Symbol Ankdd1a
Ensembl Gene ENSMUSG00000066510
Gene Name ankyrin repeat and death domain containing 1A
Synonyms LOC384945, EG330963
MMRRC Submission 041728-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R4471 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65395752-65427475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65410791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 398 (D398G)
Ref Sequence ENSEMBL: ENSMUSP00000150130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061766] [ENSMUST00000217646]
AlphaFold F8VQ39
Predicted Effect probably benign
Transcript: ENSMUST00000061766
AA Change: D369G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057040
Gene: ENSMUSG00000066510
AA Change: D369G

DomainStartEndE-ValueType
ANK 4 33 1.31e3 SMART
ANK 37 66 2.1e-3 SMART
ANK 70 99 6.26e-2 SMART
ANK 103 132 8.72e-1 SMART
ANK 138 167 5.09e-2 SMART
ANK 171 200 4.03e-5 SMART
ANK 204 233 5.32e-5 SMART
ANK 237 268 8.72e-1 SMART
ANK 270 299 8.99e-3 SMART
ANK 303 332 1.23e0 SMART
ANK 336 364 1.4e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217144
Predicted Effect probably damaging
Transcript: ENSMUST00000217646
AA Change: D398G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3537 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 A G 3: 127,473,175 (GRCm39) S943P probably damaging Het
Ankrd13b T A 11: 77,367,040 (GRCm39) K49M probably damaging Het
Asah1 A G 8: 41,796,761 (GRCm39) probably null Het
Cdc34b A G 11: 94,633,064 (GRCm39) E88G probably benign Het
Cdh2 T C 18: 16,907,533 (GRCm39) probably null Het
Ceacam1 T A 7: 25,174,025 (GRCm39) N210I possibly damaging Het
Celf3 A G 3: 94,395,585 (GRCm39) probably null Het
Cfap20dc A G 14: 8,536,571 (GRCm38) L212P probably damaging Het
Cmya5 A T 13: 93,228,833 (GRCm39) M2085K probably benign Het
Cpne6 G A 14: 55,754,089 (GRCm39) V469M probably damaging Het
Cyp2j12 A G 4: 96,021,306 (GRCm39) V100A probably benign Het
Dnajb4 A T 3: 151,890,799 (GRCm39) H333Q probably benign Het
Eif3f T C 7: 108,540,153 (GRCm39) V316A possibly damaging Het
Eml1 T C 12: 108,472,894 (GRCm39) probably benign Het
Ern1 C A 11: 106,310,868 (GRCm39) V302L possibly damaging Het
Fam110b A T 4: 5,799,092 (GRCm39) H170L probably benign Het
Fn3krp T G 11: 121,317,499 (GRCm39) D146E probably benign Het
Git1 A G 11: 77,390,650 (GRCm39) T129A probably benign Het
Glrp1 T A 1: 88,431,196 (GRCm39) Q58L unknown Het
Gpatch2 A G 1: 186,965,337 (GRCm39) E281G probably damaging Het
Hipk2 T A 6: 38,713,857 (GRCm39) probably benign Het
Hydin A G 8: 111,313,764 (GRCm39) N4214S probably damaging Het
Icam5 T A 9: 20,946,802 (GRCm39) C443* probably null Het
Impdh1 G A 6: 29,204,631 (GRCm39) Q307* probably null Het
Ivns1abp C T 1: 151,236,990 (GRCm39) T447M probably benign Het
Lman1 A T 18: 66,124,797 (GRCm39) probably benign Het
Mdn1 A G 4: 32,668,860 (GRCm39) E306G probably benign Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Mtif2 T C 11: 29,490,053 (GRCm39) probably benign Het
Mvp C T 7: 126,601,130 (GRCm39) M1I probably null Het
Myh7 A T 14: 55,229,311 (GRCm39) Y162* probably null Het
Nemf G A 12: 69,361,216 (GRCm39) H956Y probably benign Het
Nktr T C 9: 121,577,962 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Or8d1 T C 9: 38,766,927 (GRCm39) S190P probably damaging Het
Patj A G 4: 98,423,816 (GRCm39) K621E probably damaging Het
Prss2 A G 6: 41,499,780 (GRCm39) I24V probably damaging Het
R3hcc1l T C 19: 42,571,259 (GRCm39) probably benign Het
Rest T C 5: 77,429,027 (GRCm39) V482A probably benign Het
Rexo1 A T 10: 80,378,492 (GRCm39) S476T probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Slc16a3 T C 11: 120,846,774 (GRCm39) probably benign Het
Slc5a4b G A 10: 75,894,725 (GRCm39) Q594* probably null Het
Slk T G 19: 47,603,862 (GRCm39) V202G probably damaging Het
Smarca2 T A 19: 26,597,277 (GRCm39) V53D possibly damaging Het
Snrnp200 T A 2: 127,080,673 (GRCm39) V2036E probably benign Het
Sox5 A G 6: 143,790,491 (GRCm39) M523T possibly damaging Het
Syt17 A G 7: 118,036,040 (GRCm39) probably null Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tcstv2a G T 13: 120,725,579 (GRCm39) R81L probably benign Het
Tecrl A G 5: 83,461,134 (GRCm39) Y108H probably benign Het
Tln1 A T 4: 43,551,018 (GRCm39) F409L probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Ttc23 G A 7: 67,319,904 (GRCm39) R187Q probably benign Het
Ttl T C 2: 128,923,977 (GRCm39) V230A probably benign Het
Ube2u G A 4: 100,338,843 (GRCm39) W36* probably null Het
Ube4a A T 9: 44,857,830 (GRCm39) probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Unc45a A G 7: 79,982,728 (GRCm39) I399T possibly damaging Het
Utp25 C T 1: 192,812,445 (GRCm39) R5Q possibly damaging Het
Wdr59 A C 8: 112,193,419 (GRCm39) probably null Het
Zfp24 A G 18: 24,151,172 (GRCm39) probably benign Het
Zfp777 A T 6: 48,019,041 (GRCm39) W342R probably damaging Het
Zfp979 A T 4: 147,697,913 (GRCm39) C265* probably null Het
Zzef1 T A 11: 72,804,157 (GRCm39) L2633Q probably damaging Het
Other mutations in Ankdd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Ankdd1a APN 9 65,415,984 (GRCm39) missense probably damaging 1.00
IGL01372:Ankdd1a APN 9 65,411,421 (GRCm39) missense probably damaging 1.00
IGL01932:Ankdd1a APN 9 65,414,893 (GRCm39) splice site probably benign
IGL02150:Ankdd1a APN 9 65,420,001 (GRCm39) missense probably damaging 1.00
IGL03243:Ankdd1a APN 9 65,408,752 (GRCm39) missense probably benign 0.28
PIT4618001:Ankdd1a UTSW 9 65,414,932 (GRCm39) missense possibly damaging 0.76
R0137:Ankdd1a UTSW 9 65,417,610 (GRCm39) missense probably null 0.26
R0302:Ankdd1a UTSW 9 65,416,924 (GRCm39) splice site probably benign
R0980:Ankdd1a UTSW 9 65,424,253 (GRCm39) missense probably damaging 1.00
R1832:Ankdd1a UTSW 9 65,411,771 (GRCm39) critical splice donor site probably null
R3887:Ankdd1a UTSW 9 65,409,530 (GRCm39) missense probably damaging 1.00
R4470:Ankdd1a UTSW 9 65,410,791 (GRCm39) missense probably damaging 1.00
R5326:Ankdd1a UTSW 9 65,411,472 (GRCm39) critical splice acceptor site probably null
R5394:Ankdd1a UTSW 9 65,412,496 (GRCm39) missense probably benign 0.12
R5542:Ankdd1a UTSW 9 65,411,472 (GRCm39) critical splice acceptor site probably null
R5594:Ankdd1a UTSW 9 65,409,523 (GRCm39) missense probably damaging 1.00
R5933:Ankdd1a UTSW 9 65,416,978 (GRCm39) missense probably benign 0.11
R6217:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6294:Ankdd1a UTSW 9 65,427,446 (GRCm39) missense probably benign 0.12
R6300:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6301:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6305:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6306:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6307:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6312:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6313:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6314:Ankdd1a UTSW 9 65,415,343 (GRCm39) missense possibly damaging 0.85
R6413:Ankdd1a UTSW 9 65,417,654 (GRCm39) missense probably benign
R6431:Ankdd1a UTSW 9 65,424,220 (GRCm39) missense possibly damaging 0.92
R6477:Ankdd1a UTSW 9 65,409,494 (GRCm39) missense probably benign 0.10
R6991:Ankdd1a UTSW 9 65,415,957 (GRCm39) missense probably benign 0.22
R7260:Ankdd1a UTSW 9 65,411,834 (GRCm39) missense probably damaging 0.96
R7586:Ankdd1a UTSW 9 65,409,466 (GRCm39) critical splice donor site probably null
R8680:Ankdd1a UTSW 9 65,412,418 (GRCm39) missense probably damaging 1.00
R8809:Ankdd1a UTSW 9 65,415,422 (GRCm39) splice site probably benign
R9562:Ankdd1a UTSW 9 65,411,452 (GRCm39) missense possibly damaging 0.62
R9565:Ankdd1a UTSW 9 65,411,452 (GRCm39) missense possibly damaging 0.62
R9772:Ankdd1a UTSW 9 65,408,749 (GRCm39) missense probably damaging 1.00
X0064:Ankdd1a UTSW 9 65,410,735 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTCCCCAGCTGCACAGAAC -3'
(R):5'- ACCCATGCTGATTCAGGTTCC -3'

Sequencing Primer
(F):5'- ACATGCCCCTATCCACGGG -3'
(R):5'- ATGCTGATTCAGGTTCCCAGGTTC -3'
Posted On 2015-07-21