Incidental Mutation 'R6991:Ankdd1a'
ID 543850
Institutional Source Beutler Lab
Gene Symbol Ankdd1a
Ensembl Gene ENSMUSG00000066510
Gene Name ankyrin repeat and death domain containing 1A
Synonyms LOC384945, EG330963
MMRRC Submission 045097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6991 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 65395752-65427475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65415957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 186 (D186V)
Ref Sequence ENSEMBL: ENSMUSP00000057040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061766] [ENSMUST00000217646]
AlphaFold F8VQ39
Predicted Effect probably benign
Transcript: ENSMUST00000061766
AA Change: D186V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057040
Gene: ENSMUSG00000066510
AA Change: D186V

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 probably benign
Transcript: ENSMUST00000217646
AA Change: D196V

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,279,871 (GRCm39) V278D probably damaging Het
Akap12 G T 10: 4,307,122 (GRCm39) E1311* probably null Het
Birc6 A G 17: 74,869,090 (GRCm39) E346G probably damaging Het
Brd10 A G 19: 29,696,508 (GRCm39) L995S possibly damaging Het
Ccr7 A C 11: 99,036,130 (GRCm39) V264G probably damaging Het
Col7a1 T C 9: 108,812,987 (GRCm39) probably null Het
Coq8a T C 1: 180,006,633 (GRCm39) T132A probably benign Het
Cplane1 A G 15: 8,281,690 (GRCm39) E2843G unknown Het
Cyp2b10 G A 7: 25,616,780 (GRCm39) S407N probably benign Het
Ddi2 A G 4: 141,412,561 (GRCm39) V117A probably benign Het
Ddx42 G A 11: 106,129,970 (GRCm39) V421I probably damaging Het
Dip2c T A 13: 9,601,896 (GRCm39) L285* probably null Het
Dip2c C T 13: 9,684,868 (GRCm39) S1232F probably damaging Het
Dner T A 1: 84,454,123 (GRCm39) R402* probably null Het
Dpysl3 A T 18: 43,486,956 (GRCm39) I317N probably damaging Het
Dusp23 T A 1: 172,459,224 (GRCm39) Y146F probably benign Het
Eef1a2 C A 2: 180,790,421 (GRCm39) V412L possibly damaging Het
Epha7 C T 4: 28,821,489 (GRCm39) T218I probably damaging Het
Gigyf2 T A 1: 87,334,858 (GRCm39) C284S probably damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hao2 T A 3: 98,784,068 (GRCm39) E327V probably damaging Het
Hdhd5 A G 6: 120,487,130 (GRCm39) V409A probably damaging Het
Kif9 T C 9: 110,323,690 (GRCm39) Y236H probably damaging Het
Kri1 T C 9: 21,199,050 (GRCm39) probably benign Het
Lig4 A T 8: 10,021,098 (GRCm39) V894E probably damaging Het
Lrriq1 T C 10: 103,023,319 (GRCm39) N982S probably damaging Het
Mapk8 T C 14: 33,132,841 (GRCm39) I32V possibly damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mstn T C 1: 53,101,100 (GRCm39) I59T probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Notch4 G T 17: 34,803,774 (GRCm39) E1515* probably null Het
Npw A C 17: 24,877,029 (GRCm39) V124G probably benign Het
Nxph3 A G 11: 95,402,244 (GRCm39) S57P probably damaging Het
Opn4 A T 14: 34,315,864 (GRCm39) L390M probably benign Het
Or12e10 G A 2: 87,640,787 (GRCm39) D208N possibly damaging Het
Or52e4 T C 7: 104,705,771 (GRCm39) I106T probably damaging Het
Or5b95 G T 19: 12,658,112 (GRCm39) L213F probably benign Het
Or5g23 T C 2: 85,438,592 (GRCm39) I221V possibly damaging Het
Or5p68 T A 7: 107,945,295 (GRCm39) N298Y possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2g2e G A 4: 138,607,986 (GRCm39) C62Y probably damaging Het
Plcb4 G A 2: 135,752,114 (GRCm39) V107M probably damaging Het
Pramel33 T A 5: 93,632,233 (GRCm39) N107I probably damaging Het
Prorsd1 A C 11: 29,464,486 (GRCm39) probably benign Het
Prox2 A G 12: 85,134,165 (GRCm39) L587P probably benign Het
Prr22 A G 17: 57,078,345 (GRCm39) D166G possibly damaging Het
Ptprz1 G A 6: 23,002,686 (GRCm39) R1592Q probably benign Het
Rarg C G 15: 102,150,350 (GRCm39) R74P probably damaging Het
Rcan1 A G 16: 92,194,251 (GRCm39) V54A probably benign Het
Rmdn2 A G 17: 79,928,739 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Serpina1a T C 12: 103,820,092 (GRCm39) T385A probably benign Het
Slc44a3 T C 3: 121,325,814 (GRCm39) Y12C probably benign Het
Smg1 C A 7: 117,767,091 (GRCm39) probably benign Het
Spock3 A G 8: 63,808,415 (GRCm39) *437W probably null Het
Sugct T A 13: 17,728,965 (GRCm39) Q220H probably benign Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tnks C A 8: 35,301,647 (GRCm39) R1274I probably damaging Het
Trp53bp1 C T 2: 121,038,521 (GRCm39) R1439H probably damaging Het
Vmn1r16 G T 6: 57,299,869 (GRCm39) S251* probably null Het
Vmn2r15 T A 5: 109,441,180 (GRCm39) Q226L probably damaging Het
Vmn2r67 T G 7: 84,804,953 (GRCm39) Y53S possibly damaging Het
Vmn2r99 A G 17: 19,598,372 (GRCm39) N132S probably benign Het
Wdr73 T G 7: 80,541,604 (GRCm39) T313P probably benign Het
Zfp65 C T 13: 67,856,640 (GRCm39) R213Q 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
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
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
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'- AAAATGCCCTCAGCTCCCTG -3'
(R):5'- TGTACAGGCATGACACTTGTC -3'

Sequencing Primer
(F):5'- TGCTCCAGGTCACTCCCAAG -3'
(R):5'- GAACATGTCACTCTGGGCGTTAAC -3'
Posted On 2019-05-13