Incidental Mutation 'R0518:Dnai4'
ID 48282
Institutional Source Beutler Lab
Gene Symbol Dnai4
Ensembl Gene ENSMUSG00000035126
Gene Name dynein axonemal intermediate chain 4
Synonyms Wdr78
MMRRC Submission 038711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R0518 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 102895262-102971521 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 102921727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 464 (Y464*)
Ref Sequence ENSEMBL: ENSMUSP00000112018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036451] [ENSMUST00000036557] [ENSMUST00000106868] [ENSMUST00000116316]
AlphaFold E9PYY5
Predicted Effect probably null
Transcript: ENSMUST00000036451
AA Change: Y464*
SMART Domains Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: Y464*

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 null
Transcript: ENSMUST00000106868
AA Change: Y464*
SMART Domains Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: Y464*

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 null
Transcript: ENSMUST00000116316
AA Change: Y464*
SMART Domains Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: Y464*

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 noncoding transcript
Transcript: ENSMUST00000136355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138960
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,181,112 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acsm5 T C 7: 119,135,023 (GRCm39) V327A possibly damaging Het
Agt C A 8: 125,283,839 (GRCm39) E427* probably null Het
Akr1c14 T C 13: 4,131,016 (GRCm39) L236S probably damaging Het
Ammecr1l C T 18: 31,904,954 (GRCm39) S65L probably benign Het
Ankrd33b T C 15: 31,367,432 (GRCm39) D36G probably damaging Het
Ano8 A T 8: 71,931,902 (GRCm39) C766S probably benign Het
Arhgef16 G T 4: 154,375,491 (GRCm39) P168T probably damaging Het
Asic1 C T 15: 99,596,700 (GRCm39) R499C probably damaging Het
Atpsckmt T G 15: 31,606,103 (GRCm39) S20R probably benign Het
Bank1 C T 3: 135,919,703 (GRCm39) C364Y probably damaging Het
Bmerb1 T A 16: 13,804,676 (GRCm39) S8T possibly damaging Het
Cacna1s C A 1: 136,004,597 (GRCm39) D132E probably benign Het
Capn5 C T 7: 97,782,089 (GRCm39) R217Q probably damaging Het
Clasrp A G 7: 19,322,528 (GRCm39) I284T probably benign Het
Coa3 T A 11: 101,169,716 (GRCm39) K13M probably damaging Het
Col13a1 A T 10: 61,698,525 (GRCm39) M512K unknown Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crhbp C A 13: 95,580,403 (GRCm39) probably null Het
Cryba2 T C 1: 74,929,284 (GRCm39) Y153C possibly damaging Het
Cryzl2 T C 1: 157,292,000 (GRCm39) V93A probably damaging Het
Ctsl G A 13: 64,513,032 (GRCm39) L297F possibly damaging Het
Cyp2r1 T G 7: 114,152,135 (GRCm39) H274P probably benign Het
Ddx4 A T 13: 112,761,313 (GRCm39) probably null Het
Dnd1 A G 18: 36,897,096 (GRCm39) V350A possibly damaging Het
Dsg1b A T 18: 20,521,221 (GRCm39) Q26L probably benign Het
Fam20b C A 1: 156,515,026 (GRCm39) V280F possibly damaging Het
Foxb2 G T 19: 16,849,820 (GRCm39) C395* probably null Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Gm9930 A T 10: 9,410,547 (GRCm39) noncoding transcript Het
Hdac7 G A 15: 97,704,380 (GRCm39) Q497* probably null Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Hsd3b7 A G 7: 127,402,251 (GRCm39) T330A probably benign Het
Il20ra A T 10: 19,635,388 (GRCm39) Q543L probably damaging Het
Itk T A 11: 46,251,115 (GRCm39) D163V probably damaging Het
Kcnu1 T G 8: 26,400,916 (GRCm39) L688R probably damaging Het
Kng1 G A 16: 22,879,232 (GRCm39) A45T possibly damaging Het
Kti12 T A 4: 108,705,776 (GRCm39) V230E possibly damaging Het
Lhfpl7 T A 5: 113,383,873 (GRCm39) L97* probably null Het
Mgat5 T A 1: 127,312,584 (GRCm39) I241N probably damaging Het
Mkln1 A G 6: 31,445,067 (GRCm39) N321S probably benign Het
Mllt10 T G 2: 18,076,017 (GRCm39) probably null Het
Ms4a1 C A 19: 11,236,043 (GRCm39) probably null Het
Ngly1 C T 14: 16,290,774 (GRCm38) Q419* probably null Het
Nipsnap3b T A 4: 53,021,343 (GRCm39) F243I probably damaging Het
Ogfod1 T A 8: 94,781,876 (GRCm39) probably null Het
Or10a2 T A 7: 106,673,965 (GRCm39) L310Q possibly damaging Het
Or2y11 C T 11: 49,443,291 (GRCm39) T239M probably damaging Het
Or51v8 T A 7: 103,319,696 (GRCm39) I181F possibly damaging Het
Or8c20 A C 9: 38,260,499 (GRCm39) N40T probably damaging Het
P2ry14 T A 3: 59,022,625 (GRCm39) E287D probably damaging Het
Pank4 A T 4: 155,061,082 (GRCm39) R510S possibly damaging Het
Pcsk6 T A 7: 65,629,915 (GRCm39) V347E possibly damaging Het
Peg3 T C 7: 6,714,427 (GRCm39) E265G probably damaging Het
Pik3c2b C A 1: 133,033,730 (GRCm39) P1578H probably damaging Het
Pkd1 A G 17: 24,814,193 (GRCm39) S4188G probably benign Het
Ppp1r26 A G 2: 28,342,314 (GRCm39) D648G probably damaging Het
Ptprs A G 17: 56,726,621 (GRCm39) probably null Het
Rab24 A T 13: 55,468,738 (GRCm39) probably null Het
Rap1gap2 A T 11: 74,332,592 (GRCm39) M71K probably damaging Het
Rergl T G 6: 139,473,524 (GRCm39) K42T probably damaging Het
Rigi C T 4: 40,216,354 (GRCm39) probably null Het
Septin5 T C 16: 18,443,647 (GRCm39) T92A probably benign Het
Ski A G 4: 155,243,743 (GRCm39) probably null Het
Slc17a8 A G 10: 89,412,192 (GRCm39) S414P probably benign Het
Slc25a36 A T 9: 96,979,228 (GRCm39) I71N probably damaging Het
Syne2 A C 12: 76,155,636 (GRCm39) probably null Het
Tdrd5 C A 1: 156,090,511 (GRCm39) W845L probably damaging Het
Tfb2m T C 1: 179,365,389 (GRCm39) I192V possibly damaging Het
Tll1 T G 8: 64,551,505 (GRCm39) D292A probably damaging Het
Trank1 A C 9: 111,162,876 (GRCm39) D45A probably damaging Het
Trim17 T A 11: 58,859,320 (GRCm39) V178E probably damaging Het
Trim9 A T 12: 70,393,359 (GRCm39) L195Q probably damaging Het
Ttc27 A T 17: 75,163,544 (GRCm39) R717S possibly damaging Het
Upk2 G T 9: 44,365,418 (GRCm39) P50Q probably damaging Het
Usp9y A T Y: 1,307,880 (GRCm39) C2319S probably benign Het
Vmn1r4 G T 6: 56,933,883 (GRCm39) C129F probably benign Het
Vmn2r100 A T 17: 19,742,178 (GRCm39) D184V probably damaging Het
Xpnpep3 T G 15: 81,311,693 (GRCm39) I133S possibly damaging Het
Zfp628 A T 7: 4,922,939 (GRCm39) Q387L probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign 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
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
R8957:Dnai4 UTSW 4 102,953,950 (GRCm39) missense probably damaging 1.00
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'- GGCCTGTGTGCTCTGACCTACA -3'
(R):5'- GTATACTAAGCGAGTGCCCCAGC -3'

Sequencing Primer
(F):5'- cagacacagcagaagaggg -3'
(R):5'- CGTTGGCTACAGTTTCCTGT -3'
Posted On 2013-06-12