Incidental Mutation 'R5930:Dyx1c1'
ID 460186
Institutional Source Beutler Lab
Gene Symbol Dyx1c1
Ensembl Gene ENSMUSG00000092192
Gene Name dyslexia susceptibility 1 candidate 1
Synonyms 1700010I24Rik, b2b811Clo, EKN1
MMRRC Submission 044125-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.841) question?
Stock # R5930 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72958785-72973064 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72971998 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 356 (V356A)
Ref Sequence ENSEMBL: ENSMUSP00000120629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034734] [ENSMUST00000098567] [ENSMUST00000149692]
AlphaFold Q8R368
Predicted Effect probably damaging
Transcript: ENSMUST00000034734
AA Change: V356A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034734
Gene: ENSMUSG00000092192
AA Change: V356A

DomainStartEndE-ValueType
Pfam:CS 6 77 5.8e-9 PFAM
coiled coil region 101 161 N/A INTRINSIC
TPR 288 321 2.56e1 SMART
TPR 322 355 1.26e-1 SMART
TPR 364 397 2.59e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000098567
AA Change: V236A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096166
Gene: ENSMUSG00000092192
AA Change: V236A

DomainStartEndE-ValueType
Pfam:CS 6 77 1.3e-14 PFAM
TPR 168 201 2.56e1 SMART
TPR 202 235 1.26e-1 SMART
TPR 244 277 2.59e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149692
AA Change: V356A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865
AA Change: V356A

DomainStartEndE-ValueType
Pfam:CS 6 77 2.1e-9 PFAM
coiled coil region 101 161 N/A INTRINSIC
Pfam:TPR_11 286 352 2e-14 PFAM
Pfam:TPR_1 322 352 5.6e-6 PFAM
Blast:TPR 364 386 1e-5 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193501
Meta Mutation Damage Score 0.2032 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (102/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit both pre- and postnatal lethality, hydrocephalus, and defects in organ laterality and ciliary motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,397,451 V5572I probably benign Het
AF366264 T A 8: 13,837,263 D276V probably benign Het
Agap1 C T 1: 89,843,096 T656I probably damaging Het
Als2cl C T 9: 110,887,364 R247W probably damaging Het
Ankfy1 A T 11: 72,712,245 R33S probably benign Het
Ano5 T C 7: 51,585,331 F671L probably damaging Het
Arhgap26 A G 18: 39,150,092 M361V probably damaging Het
Bckdk A G 7: 127,905,973 E175G probably damaging Het
Bptf G T 11: 107,073,196 T1724K probably damaging Het
Btn2a2 T A 13: 23,486,228 I112F probably damaging Het
Cd163l1 C T 7: 140,230,446 P984S probably benign Het
Cln8 T A 8: 14,896,621 W212R probably damaging Het
Cnbd1 T C 4: 18,886,119 E300G probably benign Het
Cnksr3 T C 10: 7,142,993 I173V probably benign Het
Cntn2 T A 1: 132,523,432 D484V probably damaging Het
Cyp4a14 C A 4: 115,491,410 G319V probably damaging Het
Cyp4f37 G A 17: 32,629,983 R275Q possibly damaging Het
Def8 C T 8: 123,460,070 probably benign Het
Dnah10 T C 5: 124,791,791 probably null Het
Dock6 A G 9: 21,824,416 V1012A probably benign Het
Dus3l T A 17: 56,769,579 N586K probably damaging Het
Dyrk2 T A 10: 118,860,268 I362F probably damaging Het
Erc2 T A 14: 27,776,858 D230E probably damaging Het
Fam102b A T 3: 108,980,152 S265R probably benign Het
Fat1 A G 8: 45,044,036 H4186R probably benign Het
Fbxo44 A G 4: 148,156,595 F179S probably damaging Het
Fech A G 18: 64,478,649 probably null Het
Fer1l5 T A 1: 36,385,173 C289* probably null Het
Fhl5 T A 4: 25,214,756 D7V probably benign Het
Flvcr1 G T 1: 191,009,551 T514K probably damaging Het
Fmo1 A T 1: 162,839,616 probably null Het
Gabra6 G A 11: 42,307,441 T384M probably benign Het
Gli3 A G 13: 15,548,625 Y117C probably damaging Het
Gnao1 A G 8: 93,896,245 D59G probably benign Het
Gria2 T C 3: 80,707,249 I495V possibly damaging Het
Hnf1b C A 11: 83,863,985 H161Q probably benign Het
Itga8 T A 2: 12,230,208 D413V possibly damaging Het
Itpr3 A T 17: 27,110,921 Q1563L possibly damaging Het
Kctd16 A G 18: 40,530,829 N337S probably benign Het
Klra4 C T 6: 130,053,053 V190M possibly damaging Het
Krtap4-9 T A 11: 99,785,636 probably benign Het
L3mbtl1 GGCCG GG 2: 162,967,336 probably benign Het
Mchr1 T C 15: 81,237,843 F265L probably damaging Het
Megf8 T A 7: 25,326,441 Y83* probably null Het
Mettl18 A G 1: 163,997,177 M356V probably null Het
Mrm1 G A 11: 84,819,192 R61W probably damaging Het
Muc4 A T 16: 32,751,705 T528S probably benign Het
Myef2 A T 2: 125,095,731 L530* probably null Het
Nhlrc4 T C 17: 25,943,719 E18G probably benign Het
Nisch C T 14: 31,173,145 V1065I probably benign Het
Nlgn2 C T 11: 69,834,149 R97H probably damaging Het
Nos2 T C 11: 78,937,915 L321S probably damaging Het
Oaz3 T C 3: 94,436,410 M49V possibly damaging Het
Olfm5 A G 7: 104,154,155 V367A probably damaging Het
Olfr130 C A 17: 38,067,750 A193D probably benign Het
Olfr1335 C T 4: 118,809,378 R162H probably benign Het
Olfr564 A T 7: 102,804,274 R265S probably damaging Het
Olfr742 C A 14: 50,515,792 A196D probably benign Het
Olfr77 A G 9: 19,920,910 K234E probably damaging Het
Omd C T 13: 49,589,636 P54L possibly damaging Het
Pard3b T A 1: 61,768,130 probably benign Het
Pcdhb18 A C 18: 37,491,935 I773L possibly damaging Het
Pde11a T C 2: 76,139,831 probably null Het
Pfkfb4 A C 9: 109,030,394 probably benign Het
Phb2 T G 6: 124,715,649 I260S probably damaging Het
Pkd1l1 G A 11: 8,958,969 T345I unknown Het
Pla2g6 T C 15: 79,303,528 probably benign Het
Pou4f2 G A 8: 78,436,391 S5F unknown Het
Ppp1r9a A T 6: 5,157,002 probably null Het
Pramel5 A G 4: 144,272,983 I178T probably benign Het
Prom2 C T 2: 127,530,133 W745* probably null Het
Pros1 T A 16: 62,928,061 N632K probably damaging Het
Rab4b A G 7: 27,174,502 I117T probably benign Het
Rbm25 T A 12: 83,677,866 H796Q possibly damaging Het
Rnf151 A T 17: 24,718,030 probably null Het
Rps6ka1 A T 4: 133,871,571 L97I probably damaging Het
Sergef T A 7: 46,443,464 T374S probably benign Het
Sh3rf3 G T 10: 59,130,986 G717C probably damaging Het
Slc29a4 C T 5: 142,721,402 T500I possibly damaging Het
Smc1b T A 15: 85,086,121 D977V probably damaging Het
Spata31d1d C T 13: 59,727,015 C902Y probably benign Het
St14 A T 9: 31,103,760 V314D probably damaging Het
Stat3 A T 11: 100,893,670 I602N possibly damaging Het
Stx4a T A 7: 127,846,489 I189N probably damaging Het
Tacc1 A G 8: 25,182,199 S338P probably benign Het
Tcirg1 T A 19: 3,902,424 T315S possibly damaging Het
Tenm4 A T 7: 96,854,719 N1295I probably damaging Het
Tm7sf3 T C 6: 146,603,911 K516E possibly damaging Het
Tmem198b T C 10: 128,801,454 E272G possibly damaging Het
Tnip3 A G 6: 65,605,953 Q237R probably damaging Het
Trim15 C T 17: 36,862,360 probably null Het
Trim30a T A 7: 104,421,450 N252I possibly damaging Het
Ttc39a A G 4: 109,430,878 E227G probably benign Het
Ttll13 A G 7: 80,253,166 E194G probably damaging Het
Upf1 G A 8: 70,344,262 T107I probably benign Het
Vac14 A G 8: 110,710,349 I565V probably damaging Het
Zcchc14 A T 8: 121,611,358 probably benign Het
Other mutations in Dyx1c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02198:Dyx1c1 APN 9 72969066 missense probably benign 0.02
R0211:Dyx1c1 UTSW 9 72961367 missense possibly damaging 0.82
R0310:Dyx1c1 UTSW 9 72972336 missense probably damaging 1.00
R0712:Dyx1c1 UTSW 9 72960657 nonsense probably null
R1791:Dyx1c1 UTSW 9 72960684 missense possibly damaging 0.90
R1927:Dyx1c1 UTSW 9 72960627 missense probably damaging 0.98
R3085:Dyx1c1 UTSW 9 72972406 missense probably benign 0.00
R4624:Dyx1c1 UTSW 9 72964171 missense probably benign 0.01
R4998:Dyx1c1 UTSW 9 72960678 missense possibly damaging 0.93
R5008:Dyx1c1 UTSW 9 72972318 intron probably benign
R5200:Dyx1c1 UTSW 9 72972431 missense probably damaging 1.00
R5256:Dyx1c1 UTSW 9 72972080 critical splice donor site probably null
R5806:Dyx1c1 UTSW 9 72962054 missense probably benign 0.06
R6751:Dyx1c1 UTSW 9 72961975 missense probably benign 0.08
R8018:Dyx1c1 UTSW 9 72972316 intron probably benign
R9373:Dyx1c1 UTSW 9 72964180 missense probably damaging 1.00
Z1177:Dyx1c1 UTSW 9 72961964 missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TGTCCACTCCTGTACCATAGAC -3'
(R):5'- GGTCTCCTGAAGCTTAAAAGACTTAG -3'

Sequencing Primer
(F):5'- TGAAGCAAGGTCTCTCACTG -3'
(R):5'- GCTTAAAAGACTTAGACCTTGCTGGG -3'
Posted On 2017-02-28