Incidental Mutation 'R2436:Dnai4'
ID 249574
Institutional Source Beutler Lab
Gene Symbol Dnai4
Ensembl Gene ENSMUSG00000035126
Gene Name dynein axonemal intermediate chain 4
Synonyms Wdr78
MMRRC Submission 040397-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R2436 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 102895262-102971521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102923549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 427 (I427V)
Ref Sequence ENSEMBL: ENSMUSP00000112018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036451] [ENSMUST00000036557] [ENSMUST00000106868] [ENSMUST00000116316]
AlphaFold E9PYY5
Predicted Effect probably benign
Transcript: ENSMUST00000036451
AA Change: I427V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: I427V

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
AA Change: I104V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126
AA Change: I104V

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 benign
Transcript: ENSMUST00000106868
AA Change: I427V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: I427V

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 benign
Transcript: ENSMUST00000116316
AA Change: I427V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: I427V

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A G 16: 56,582,308 (GRCm39) S277P possibly damaging Het
Arl6ip4 T C 5: 124,254,662 (GRCm39) S52P probably benign Het
Barx2 T C 9: 31,824,383 (GRCm39) H2R probably damaging Het
Calhm3 T C 19: 47,140,404 (GRCm39) T230A probably damaging Het
Card11 C T 5: 140,868,117 (GRCm39) V844M possibly damaging Het
Dnah6 C T 6: 73,126,156 (GRCm39) R1327Q probably benign Het
Ehbp1 C A 11: 22,039,524 (GRCm39) probably null Het
Fgg T A 3: 82,921,496 (GRCm39) I393N possibly damaging Het
Foxq1 A T 13: 31,742,516 (GRCm39) probably benign Het
Hmgxb3 T C 18: 61,280,566 (GRCm39) T646A probably benign Het
Homer3 G A 8: 70,745,706 (GRCm39) E324K possibly damaging Het
Krt80 A G 15: 101,257,384 (GRCm39) F183L probably damaging Het
Map3k21 A T 8: 126,668,354 (GRCm39) K647* probably null Het
Mcm3ap A G 10: 76,325,891 (GRCm39) Y1067C probably damaging Het
Myh1 G T 11: 67,104,097 (GRCm39) Q921H probably benign Het
Nme8 A G 13: 19,862,029 (GRCm39) F200S probably damaging Het
Nploc4 T C 11: 120,309,143 (GRCm39) N153S possibly damaging Het
Or14c45 T C 7: 86,176,591 (GRCm39) F209L probably damaging Het
Or2ak6 T C 11: 58,592,952 (GRCm39) C142R probably damaging Het
Or4a73 A G 2: 89,421,117 (GRCm39) V114A probably benign Het
Or5k1 C T 16: 58,617,607 (GRCm39) V201I probably benign Het
Pipox T A 11: 77,782,943 (GRCm39) L86F probably damaging Het
Polr3h G T 15: 81,801,406 (GRCm39) L157I probably benign Het
Prex2 G A 1: 11,336,376 (GRCm39) V1525M possibly damaging Het
Rapgef2 A T 3: 78,996,079 (GRCm39) D561E possibly damaging Het
Sacs A T 14: 61,440,354 (GRCm39) D800V possibly damaging Het
Sbsn A T 7: 30,451,655 (GRCm39) L223F possibly damaging Het
Slc16a9 TCCCC TCCCCC 10: 70,091,911 (GRCm39) probably null Het
Srrm3 G T 5: 135,864,030 (GRCm39) E43* probably null Het
Tcaf3 G A 6: 42,570,663 (GRCm39) A363V probably damaging Het
Tmem138 A G 19: 10,552,268 (GRCm39) F78S probably damaging Het
Tnfrsf17 G A 16: 11,137,676 (GRCm39) D138N probably damaging Het
Tubgcp6 C T 15: 88,986,568 (GRCm39) V1344I probably benign Het
Usp24 T A 4: 106,266,842 (GRCm39) L1875* probably null Het
Vmn2r109 C A 17: 20,774,798 (GRCm39) G186C probably damaging Het
Zfp541 A G 7: 15,810,373 (GRCm39) N137D possibly 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
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'- AATGAGAAACCCTGCCTCCG -3'
(R):5'- AAAGTTTCAGTAGGCTGGGGTC -3'

Sequencing Primer
(F):5'- ACTGAGTCATGACAGTTGTCC -3'
(R):5'- TGTAATGCCACTAAGTGTCAGG -3'
Posted On 2014-11-12