Incidental Mutation 'R2185:Rundc1'
ID 237838
Institutional Source Beutler Lab
Gene Symbol Rundc1
Ensembl Gene ENSMUSG00000035007
Gene Name RUN domain containing 1
Synonyms
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R2185 (G1)
Quality Score 171
Status Validated
Chromosome 11
Chromosomal Location 101315910-101326492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101316157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 76 (D76E)
Ref Sequence ENSEMBL: ENSMUSP00000042151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040561] [ENSMUST00000093933] [ENSMUST00000103102] [ENSMUST00000107252] [ENSMUST00000107257] [ENSMUST00000107259]
AlphaFold Q0VDN7
Predicted Effect probably benign
Transcript: ENSMUST00000040561
AA Change: D76E

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007
AA Change: D76E

DomainStartEndE-ValueType
low complexity region 43 75 N/A INTRINSIC
coiled coil region 80 102 N/A INTRINSIC
coiled coil region 165 201 N/A INTRINSIC
low complexity region 327 338 N/A INTRINSIC
RUN 540 602 2.77e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093933
SMART Domains Protein: ENSMUSP00000091465
Gene: ENSMUSG00000097487

DomainStartEndE-ValueType
Pfam:CS 6 80 8.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103102
SMART Domains Protein: ENSMUSP00000099391
Gene: ENSMUSG00000097487

DomainStartEndE-ValueType
Pfam:CS 6 80 7.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107252
SMART Domains Protein: ENSMUSP00000102873
Gene: ENSMUSG00000097487

DomainStartEndE-ValueType
Pfam:CS 6 80 9.6e-9 PFAM
low complexity region 141 149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107257
SMART Domains Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239

DomainStartEndE-ValueType
Pfam:tRNA-synt_2c 91 214 1.4e-8 PFAM
tRNA_SAD 309 352 1.43e-6 SMART
low complexity region 389 406 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107259
SMART Domains Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239

DomainStartEndE-ValueType
Pfam:tRNA-synt_2c 109 232 3.4e-9 PFAM
tRNA_SAD 327 370 1.43e-6 SMART
low complexity region 407 424 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150957
Predicted Effect probably benign
Transcript: ENSMUST00000149706
SMART Domains Protein: ENSMUSP00000116399
Gene: ENSMUSG00000097487

DomainStartEndE-ValueType
SCOP:d1ejfa_ 2 41 6e-11 SMART
PDB:1EJF|B 2 56 2e-13 PDB
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Rundc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Rundc1 APN 11 101,325,100 (GRCm39) missense probably damaging 1.00
IGL01068:Rundc1 APN 11 101,324,968 (GRCm39) missense probably damaging 0.96
IGL02112:Rundc1 APN 11 101,324,425 (GRCm39) missense probably benign 0.01
R0379:Rundc1 UTSW 11 101,315,973 (GRCm39) missense probably benign 0.01
R1847:Rundc1 UTSW 11 101,324,507 (GRCm39) missense probably benign
R1959:Rundc1 UTSW 11 101,322,322 (GRCm39) missense probably damaging 1.00
R2225:Rundc1 UTSW 11 101,322,170 (GRCm39) splice site probably benign
R2323:Rundc1 UTSW 11 101,316,101 (GRCm39) missense probably damaging 0.98
R3791:Rundc1 UTSW 11 101,325,027 (GRCm39) missense probably damaging 0.96
R4599:Rundc1 UTSW 11 101,324,752 (GRCm39) missense probably damaging 1.00
R4660:Rundc1 UTSW 11 101,324,830 (GRCm39) missense possibly damaging 0.89
R4871:Rundc1 UTSW 11 101,324,874 (GRCm39) missense probably benign 0.18
R5054:Rundc1 UTSW 11 101,315,967 (GRCm39) missense probably benign 0.00
R5058:Rundc1 UTSW 11 101,316,363 (GRCm39) missense probably benign
R6349:Rundc1 UTSW 11 101,324,988 (GRCm39) missense probably benign 0.07
R6965:Rundc1 UTSW 11 101,324,737 (GRCm39) missense possibly damaging 0.96
R7240:Rundc1 UTSW 11 101,322,374 (GRCm39) critical splice donor site probably null
R7286:Rundc1 UTSW 11 101,320,413 (GRCm39) missense probably benign 0.00
R7624:Rundc1 UTSW 11 101,324,305 (GRCm39) missense possibly damaging 0.88
R8243:Rundc1 UTSW 11 101,316,384 (GRCm39) missense probably benign 0.00
R8322:Rundc1 UTSW 11 101,322,992 (GRCm39) missense probably benign 0.01
R8401:Rundc1 UTSW 11 101,324,383 (GRCm39) missense probably damaging 0.99
R8934:Rundc1 UTSW 11 101,322,327 (GRCm39) missense probably damaging 1.00
R9081:Rundc1 UTSW 11 101,316,053 (GRCm39) missense probably damaging 0.99
Z1176:Rundc1 UTSW 11 101,324,560 (GRCm39) missense probably damaging 1.00
Z1176:Rundc1 UTSW 11 101,322,948 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATTGGAGGAGTGCAAGACCC -3'
(R):5'- GAAGGCAAAGTCTTCGAGCTCG -3'

Sequencing Primer
(F):5'- TTTCCGGGAAGATGGCGAC -3'
(R):5'- AGTCTTCGAGCTCGCGCAG -3'
Posted On 2014-10-02