Incidental Mutation 'R8957:Dnai4'
ID 682082
Institutional Source Beutler Lab
Gene Symbol Dnai4
Ensembl Gene ENSMUSG00000035126
Gene Name dynein axonemal intermediate chain 4
Synonyms Wdr78
MMRRC Submission 068793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8957 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 102895262-102971521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102953950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 83 (D83G)
Ref Sequence ENSEMBL: ENSMUSP00000112018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036451] [ENSMUST00000036557] [ENSMUST00000106868] [ENSMUST00000116316]
AlphaFold E9PYY5
Predicted Effect probably damaging
Transcript: ENSMUST00000036451
AA Change: D83G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: D83G

DomainStartEndE-ValueType
low complexity region 12 20 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 138 157 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 219 234 N/A INTRINSIC
low complexity region 382 390 N/A INTRINSIC
low complexity region 399 423 N/A INTRINSIC
internal_repeat_1 447 466 2.11e-5 PROSPERO
WD40 485 524 1.85e-3 SMART
WD40 534 581 5.7e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036557
SMART Domains Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126

DomainStartEndE-ValueType
low complexity region 59 67 N/A INTRINSIC
low complexity region 76 100 N/A INTRINSIC
WD40 133 172 9.24e-4 SMART
WD40 182 229 5.7e1 SMART
low complexity region 249 261 N/A INTRINSIC
Blast:WD40 262 296 2e-12 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000106868
AA Change: D83G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: D83G

DomainStartEndE-ValueType
low complexity region 12 20 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 138 157 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 219 234 N/A INTRINSIC
low complexity region 382 390 N/A INTRINSIC
low complexity region 399 423 N/A INTRINSIC
internal_repeat_1 447 466 8.61e-5 PROSPERO
WD40 485 524 1.85e-3 SMART
WD40 534 581 5.7e1 SMART
low complexity region 601 613 N/A INTRINSIC
Blast:WD40 614 648 3e-12 BLAST
WD40 652 692 2.38e-6 SMART
WD40 695 734 1.48e-2 SMART
WD40 739 779 6.14e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000116316
AA Change: D83G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: D83G

DomainStartEndE-ValueType
low complexity region 12 20 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 138 157 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 219 234 N/A INTRINSIC
low complexity region 382 390 N/A INTRINSIC
low complexity region 399 423 N/A INTRINSIC
internal_repeat_1 447 466 2.11e-5 PROSPERO
WD40 485 524 1.85e-3 SMART
WD40 534 581 5.7e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik A G 5: 114,951,891 (GRCm39) V28A probably benign Het
Abca12 T A 1: 71,360,784 (GRCm39) D503V possibly damaging Het
Aco2 A T 15: 81,773,701 (GRCm39) probably benign Het
Aff1 A G 5: 103,981,634 (GRCm39) Q591R possibly damaging Het
Ankle2 G A 5: 110,379,121 (GRCm39) A7T possibly damaging Het
Ankrd12 T C 17: 66,291,491 (GRCm39) N1314S probably benign Het
Apeh A T 9: 107,969,572 (GRCm39) M216K probably benign Het
Armh1 T C 4: 117,087,104 (GRCm39) Y187C probably damaging Het
Ascc3 C A 10: 50,576,208 (GRCm39) A821E probably damaging Het
Atf7ip A G 6: 136,543,701 (GRCm39) D650G probably null Het
Cav1 T A 6: 17,339,235 (GRCm39) F107I probably benign Het
Ccdc146 A G 5: 21,514,585 (GRCm39) probably benign Het
Ccdc57 A G 11: 120,776,861 (GRCm39) I513T probably benign Het
Ccrl2 T C 9: 110,884,557 (GRCm39) R314G probably benign Het
Cd1d1 T C 3: 86,906,140 (GRCm39) D45G probably damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Col4a1 T A 8: 11,295,906 (GRCm39) probably benign Het
Cux2 C T 5: 121,999,011 (GRCm39) G1310R probably benign Het
Cyld G T 8: 89,432,410 (GRCm39) R136L probably damaging Het
Cyp4v3 A T 8: 45,760,018 (GRCm39) N511K probably benign Het
Dchs2 G A 3: 83,189,573 (GRCm39) V1646M Het
Des A T 1: 75,340,295 (GRCm39) I401F probably damaging Het
Dis3 T C 14: 99,337,027 (GRCm39) D28G probably damaging Het
Ehd1 A G 19: 6,344,439 (GRCm39) Y233C probably damaging Het
Fcrlb G A 1: 170,735,536 (GRCm39) A246V probably benign Het
Firrm C T 1: 163,792,335 (GRCm39) R554H probably damaging Het
Fnta T C 8: 26,489,541 (GRCm39) R357G probably benign Het
Fpgs T C 2: 32,575,354 (GRCm39) D420G probably damaging Het
Hdac4 T C 1: 91,873,757 (GRCm39) probably null Het
Hdhd5 C T 6: 120,495,404 (GRCm39) probably null Het
Iqgap2 G A 13: 95,772,154 (GRCm39) R1342C probably damaging Het
Isyna1 T G 8: 71,049,372 (GRCm39) L428R probably damaging Het
Jmjd4 C T 11: 59,340,884 (GRCm39) probably benign Het
Klra1 A G 6: 130,357,609 (GRCm39) V6A possibly damaging Het
Klrb1b T A 6: 128,795,522 (GRCm39) K124N probably benign Het
Krtap19-3 T C 16: 88,674,833 (GRCm39) probably benign Het
Lrrc74b T C 16: 17,378,976 (GRCm39) T34A probably benign Het
Map9 A G 3: 82,278,687 (GRCm39) Y229C probably benign Het
Mmp28 T C 11: 83,334,636 (GRCm39) I373V possibly damaging Het
Mpdz A T 4: 81,251,216 (GRCm39) Y1086* probably null Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Myh4 A G 11: 67,141,780 (GRCm39) K880E possibly damaging Het
Nav2 T G 7: 49,220,964 (GRCm39) V1656G probably damaging Het
Or12d13 A G 17: 37,647,382 (GRCm39) V247A probably damaging Het
Or1a1 T A 11: 74,086,772 (GRCm39) S148T probably damaging Het
Or5b101 T A 19: 13,004,881 (GRCm39) I271F probably benign Het
Pate2 T C 9: 35,596,911 (GRCm39) W100R probably benign Het
Pcdhb11 A C 18: 37,554,692 (GRCm39) K7N probably benign Het
Pcdhb11 A G 18: 37,555,872 (GRCm39) T401A probably benign Het
Pgam1 T A 19: 41,905,215 (GRCm39) I183N possibly damaging Het
Pou5f1 T G 17: 35,821,366 (GRCm39) L326R possibly damaging Het
Rbm34 A C 8: 127,692,208 (GRCm39) V178G probably benign Het
Rc3h2 A G 2: 37,289,660 (GRCm39) V384A possibly damaging Het
Sec62 T A 3: 30,864,671 (GRCm39) F178L unknown Het
Slco1a6 T C 6: 142,091,493 (GRCm39) N69S probably damaging Het
Smok2b T A 17: 13,453,873 (GRCm39) L11Q probably damaging Het
Snai2 T C 16: 14,526,113 (GRCm39) S255P probably damaging Het
Spata31h1 A G 10: 82,124,908 (GRCm39) Y2701H probably benign Het
Tesk2 T A 4: 116,659,910 (GRCm39) F343I probably benign Het
Tmem106c A T 15: 97,867,481 (GRCm39) I222F probably benign Het
Tmub1 G T 5: 24,651,775 (GRCm39) T63K probably benign Het
Tnip3 A G 6: 65,582,843 (GRCm39) T217A probably benign Het
Vmn2r10 T G 5: 109,149,780 (GRCm39) K421N possibly damaging Het
Zfp975 A T 7: 42,311,157 (GRCm39) H485Q probably damaging Het
Other mutations in Dnai4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Dnai4 APN 4 102,960,439 (GRCm39) missense possibly damaging 0.77
IGL01508:Dnai4 APN 4 102,929,884 (GRCm39) missense possibly damaging 0.94
IGL01509:Dnai4 APN 4 102,929,884 (GRCm39) missense possibly damaging 0.94
IGL01511:Dnai4 APN 4 102,905,558 (GRCm39) missense possibly damaging 0.81
IGL01693:Dnai4 APN 4 102,944,527 (GRCm39) splice site probably null
IGL01731:Dnai4 APN 4 102,919,632 (GRCm39) missense probably benign 0.01
IGL02033:Dnai4 APN 4 102,923,490 (GRCm39) missense possibly damaging 0.58
IGL02100:Dnai4 APN 4 102,907,346 (GRCm39) missense probably damaging 1.00
IGL02218:Dnai4 APN 4 102,953,971 (GRCm39) missense probably damaging 1.00
IGL02226:Dnai4 APN 4 102,947,595 (GRCm39) missense probably benign 0.00
IGL02476:Dnai4 APN 4 102,944,545 (GRCm39) missense possibly damaging 0.46
IGL02929:Dnai4 APN 4 102,917,188 (GRCm39) nonsense probably null
R0070:Dnai4 UTSW 4 102,917,131 (GRCm39) missense probably damaging 1.00
R0377:Dnai4 UTSW 4 102,905,456 (GRCm39) missense probably damaging 1.00
R0433:Dnai4 UTSW 4 102,960,450 (GRCm39) missense probably benign 0.41
R0518:Dnai4 UTSW 4 102,921,727 (GRCm39) nonsense probably null
R0538:Dnai4 UTSW 4 102,953,815 (GRCm39) missense possibly damaging 0.65
R0624:Dnai4 UTSW 4 102,930,054 (GRCm39) splice site probably benign
R0894:Dnai4 UTSW 4 102,906,583 (GRCm39) intron probably benign
R1463:Dnai4 UTSW 4 102,944,615 (GRCm39) missense possibly damaging 0.95
R1818:Dnai4 UTSW 4 102,929,854 (GRCm39) missense possibly damaging 0.67
R2073:Dnai4 UTSW 4 102,907,390 (GRCm39) missense probably damaging 1.00
R2075:Dnai4 UTSW 4 102,907,390 (GRCm39) missense probably damaging 1.00
R2436:Dnai4 UTSW 4 102,923,549 (GRCm39) missense probably benign 0.01
R2851:Dnai4 UTSW 4 102,953,858 (GRCm39) missense probably benign 0.12
R2852:Dnai4 UTSW 4 102,953,858 (GRCm39) missense probably benign 0.12
R2853:Dnai4 UTSW 4 102,907,355 (GRCm39) missense possibly damaging 0.90
R4491:Dnai4 UTSW 4 102,923,596 (GRCm39) missense probably benign 0.04
R4792:Dnai4 UTSW 4 102,929,881 (GRCm39) missense possibly damaging 0.94
R5223:Dnai4 UTSW 4 102,906,600 (GRCm39) missense possibly damaging 0.87
R5290:Dnai4 UTSW 4 102,906,730 (GRCm39) missense probably benign 0.00
R5465:Dnai4 UTSW 4 102,906,758 (GRCm39) missense probably damaging 1.00
R5975:Dnai4 UTSW 4 102,906,786 (GRCm39) missense probably benign 0.03
R6239:Dnai4 UTSW 4 102,923,640 (GRCm39) missense probably benign
R6304:Dnai4 UTSW 4 102,944,553 (GRCm39) missense probably benign 0.35
R6456:Dnai4 UTSW 4 102,906,746 (GRCm39) missense probably benign 0.00
R6467:Dnai4 UTSW 4 102,906,758 (GRCm39) missense probably damaging 1.00
R6813:Dnai4 UTSW 4 102,905,523 (GRCm39) missense probably benign 0.26
R7161:Dnai4 UTSW 4 102,953,813 (GRCm39) missense probably benign 0.28
R7198:Dnai4 UTSW 4 102,919,610 (GRCm39) missense probably damaging 0.98
R7208:Dnai4 UTSW 4 102,923,549 (GRCm39) missense probably benign 0.00
R7320:Dnai4 UTSW 4 102,907,384 (GRCm39) missense possibly damaging 0.68
R7742:Dnai4 UTSW 4 102,947,630 (GRCm39) missense probably benign
R7939:Dnai4 UTSW 4 102,953,798 (GRCm39) nonsense probably null
R8120:Dnai4 UTSW 4 102,923,531 (GRCm39) missense probably damaging 1.00
R8353:Dnai4 UTSW 4 102,917,113 (GRCm39) missense possibly damaging 0.63
R8453:Dnai4 UTSW 4 102,917,113 (GRCm39) missense possibly damaging 0.63
R8813:Dnai4 UTSW 4 102,947,697 (GRCm39) missense possibly damaging 0.53
R8870:Dnai4 UTSW 4 102,944,529 (GRCm39) critical splice donor site probably null
R8909:Dnai4 UTSW 4 102,944,607 (GRCm39) missense possibly damaging 0.91
R9035:Dnai4 UTSW 4 102,905,499 (GRCm39) nonsense probably null
R9060:Dnai4 UTSW 4 102,947,750 (GRCm39) missense probably benign 0.06
R9132:Dnai4 UTSW 4 102,916,930 (GRCm39) missense probably damaging 1.00
R9141:Dnai4 UTSW 4 102,906,743 (GRCm39) missense probably damaging 0.98
R9188:Dnai4 UTSW 4 102,939,332 (GRCm39) missense
R9426:Dnai4 UTSW 4 102,906,743 (GRCm39) missense probably damaging 0.98
Z1176:Dnai4 UTSW 4 102,929,968 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AAAGAACTTCACCTTGTGTACTGC -3'
(R):5'- CAGGCATGTGAGCACAATTTTC -3'

Sequencing Primer
(F):5'- GTGTACTGCCCTAACATGCTAGG -3'
(R):5'- GGCATGTGAGCACAATTTTCAACAG -3'
Posted On 2021-08-31