Incidental Mutation 'R5058:Rundc1'
ID 391040
Institutional Source Beutler Lab
Gene Symbol Rundc1
Ensembl Gene ENSMUSG00000035007
Gene Name RUN domain containing 1
Synonyms
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R5058 (G1)
Quality Score 97
Status Validated
Chromosome 11
Chromosomal Location 101315910-101326492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101316363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 145 (L145P)
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: L145P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007
AA Change: L145P

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably 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
R2185:Rundc1 UTSW 11 101,316,157 (GRCm39) missense probably benign 0.34
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
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'- AGCTAGGAACTGTGGTGACC -3'
(R):5'- CTATAGTACTTCCAGCTCGGTCG -3'

Sequencing Primer
(F):5'- AACTGTGGTGACCGCTGTC -3'
(R):5'- AGCTCGGTCGCTCCTCAC -3'
Posted On 2016-06-06