Incidental Mutation 'R6431:Ankdd1a'
ID 518544
Institutional Source Beutler Lab
Gene Symbol Ankdd1a
Ensembl Gene ENSMUSG00000066510
Gene Name ankyrin repeat and death domain containing 1A
Synonyms LOC384945, EG330963
MMRRC Submission 044569-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6431 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 65395752-65427475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65424220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 31 (M31T)
Ref Sequence ENSEMBL: ENSMUSP00000150130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061766] [ENSMUST00000217646]
AlphaFold F8VQ39
Predicted Effect possibly damaging
Transcript: ENSMUST00000061766
AA Change: M21T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057040
Gene: ENSMUSG00000066510
AA Change: M21T

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: ENSMUST00000216282
Predicted Effect possibly damaging
Transcript: ENSMUST00000217646
AA Change: M31T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 93.9%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,099,607 (GRCm39) E719G probably damaging Het
Atp13a5 T C 16: 29,070,154 (GRCm39) K911E possibly damaging Het
Bpifb3 G T 2: 153,766,728 (GRCm39) L210F probably damaging Het
Cacna1c T C 6: 118,728,334 (GRCm39) Y211C probably damaging Het
Carm1 C A 9: 21,494,373 (GRCm39) P297T probably damaging Het
Cdh19 A T 1: 110,852,787 (GRCm39) Y383N probably benign Het
Cfap221 T C 1: 119,860,583 (GRCm39) H681R probably damaging Het
Cmya5 A C 13: 93,210,972 (GRCm39) S3274A possibly damaging Het
Cndp2 T A 18: 84,693,203 (GRCm39) K186* probably null Het
Ctdp1 G T 18: 80,494,470 (GRCm39) F310L probably damaging Het
Cyp2c55 A T 19: 39,019,853 (GRCm39) I264F probably damaging Het
Dhx40 A T 11: 86,664,649 (GRCm39) F628I probably damaging Het
Disc1 T A 8: 125,862,128 (GRCm39) M500K possibly damaging Het
Dnah5 A C 15: 28,349,970 (GRCm39) D2551A possibly damaging Het
Esyt1 A G 10: 128,352,543 (GRCm39) probably null Het
Fam78a T C 2: 31,972,843 (GRCm39) S26G probably damaging Het
Fn1 G A 1: 71,687,003 (GRCm39) probably null Het
Gbx1 T C 5: 24,709,916 (GRCm39) T310A probably benign Het
Ggh T A 4: 20,042,219 (GRCm39) C16S unknown Het
Gm11595 T A 11: 99,663,600 (GRCm39) T27S unknown Het
Gm17334 T A 11: 53,663,564 (GRCm39) probably benign Het
Gsk3b A G 16: 38,014,311 (GRCm39) I256M probably damaging Het
Hmcn1 A T 1: 150,620,711 (GRCm39) S1166R probably benign Het
Hyou1 T C 9: 44,293,322 (GRCm39) probably null Het
Jup G T 11: 100,265,167 (GRCm39) R637S probably benign Het
Lama2 T A 10: 26,929,027 (GRCm39) I2087F possibly damaging Het
Lamc1 T G 1: 153,097,417 (GRCm39) K1542N probably benign Het
Lgals4 G T 7: 28,540,117 (GRCm39) Het
Lrrc8d A G 5: 105,959,626 (GRCm39) D12G probably damaging Het
Lrwd1 C T 5: 136,161,888 (GRCm39) V207M possibly damaging Het
Mbd1 T A 18: 74,406,762 (GRCm39) probably null Het
Msi1 T A 5: 115,588,984 (GRCm39) I333N probably damaging Het
Neo1 C T 9: 58,814,354 (GRCm39) V871I probably benign Het
Nr2c1 T C 10: 94,024,078 (GRCm39) C428R probably damaging Het
Ntm A G 9: 29,322,978 (GRCm39) L14P probably damaging Het
Nxpe4 A T 9: 48,304,145 (GRCm39) K77N probably damaging Het
Or1p1c A C 11: 74,160,235 (GRCm39) T7P possibly damaging Het
Or4c119 T A 2: 88,987,505 (GRCm39) S5C probably damaging Het
Or4f17-ps1 T A 2: 111,358,001 (GRCm39) M132K probably damaging Het
Or8g30 T C 9: 39,230,074 (GRCm39) T279A possibly damaging Het
Or8k18 G A 2: 86,085,702 (GRCm39) L112F probably benign Het
Pappa T A 4: 65,074,701 (GRCm39) D418E probably damaging Het
Pde4d G A 13: 109,738,320 (GRCm39) probably null Het
Pip A G 6: 41,828,391 (GRCm39) N75S possibly damaging Het
Plcl1 G C 1: 55,736,411 (GRCm39) R584P probably benign Het
Pnp A T 14: 51,188,471 (GRCm39) D237V probably damaging Het
Ppp1r12a T C 10: 108,098,281 (GRCm39) W857R probably damaging Het
Pramel13 T C 4: 144,119,653 (GRCm39) T305A possibly damaging Het
Ptchd3 A T 11: 121,727,229 (GRCm39) M368L probably benign Het
Pum1 T A 4: 130,501,816 (GRCm39) S868R probably damaging Het
R3hdml A T 2: 163,344,324 (GRCm39) S238C probably damaging Het
Robo2 G A 16: 73,843,697 (GRCm39) R173* probably null Het
Sall3 A G 18: 81,016,402 (GRCm39) S509P possibly damaging Het
Sap130 T G 18: 31,799,418 (GRCm39) H298Q possibly damaging Het
Selenov C A 7: 27,987,458 (GRCm39) G307C probably damaging Het
Setd2 T A 9: 110,379,453 (GRCm39) H1089Q possibly damaging Het
Setdb2 T C 14: 59,656,505 (GRCm39) N287D probably damaging Het
Sis C T 3: 72,865,507 (GRCm39) V182I probably benign Het
Slc32a1 A C 2: 158,453,457 (GRCm39) D99A probably benign Het
Slk A G 19: 47,609,327 (GRCm39) D760G probably damaging Het
Smg5 T A 3: 88,258,527 (GRCm39) D499E probably benign Het
Spata31e2 T A 1: 26,723,111 (GRCm39) N690Y probably benign Het
Stat3 T C 11: 100,780,400 (GRCm39) T720A possibly damaging Het
Trdn T G 10: 33,015,110 (GRCm39) N21K probably damaging Het
Trpm4 A T 7: 44,975,992 (GRCm39) V118E possibly damaging Het
Vgll3 A G 16: 65,612,640 (GRCm39) Q41R probably damaging Het
Vmn1r189 A G 13: 22,286,525 (GRCm39) V104A probably damaging Het
Vmn1r46 A T 6: 89,953,389 (GRCm39) R79S probably benign Het
Zscan4c T C 7: 10,740,856 (GRCm39) M125T probably benign 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
R4471: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
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'- TTCAGGCAATGGACACAGC -3'
(R):5'- AAATGGGAGACTCCACCTCG -3'

Sequencing Primer
(F):5'- CAATGGACACAGCACGGGC -3'
(R):5'- TCAGGGTGGCACATTAAATCC -3'
Posted On 2018-05-24