Incidental Mutation 'R4112:Etfrf1'
ID 314457
Institutional Source Beutler Lab
Gene Symbol Etfrf1
Ensembl Gene ENSMUSG00000040370
Gene Name electron transfer flavoprotein regulatory factor 1
Synonyms Lyrm5, Ghiso, 4930469P12Rik
MMRRC Submission 040989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R4112 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 145156860-145162665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145161098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 23 (Y23H)
Ref Sequence ENSEMBL: ENSMUSP00000107355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032399] [ENSMUST00000039729] [ENSMUST00000060797] [ENSMUST00000111710] [ENSMUST00000111719] [ENSMUST00000111721] [ENSMUST00000111723] [ENSMUST00000111724] [ENSMUST00000111725] [ENSMUST00000111726] [ENSMUST00000203147] [ENSMUST00000156486] [ENSMUST00000111728] [ENSMUST00000204105]
AlphaFold Q91V16
Predicted Effect probably benign
Transcript: ENSMUST00000032399
SMART Domains Protein: ENSMUSP00000032399
Gene: ENSMUSG00000030265

DomainStartEndE-ValueType
RAS 1 166 1.14e-123 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000039729
AA Change: Y23H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039433
Gene: ENSMUSG00000040370
AA Change: Y23H

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060797
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 5.5e-61 PFAM
Pfam:Casc1 241 469 3.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111710
SMART Domains Protein: ENSMUSP00000107339
Gene: ENSMUSG00000030265

DomainStartEndE-ValueType
RAS 1 166 3.7e-123 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111719
AA Change: Y23H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107348
Gene: ENSMUSG00000040370
AA Change: Y23H

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111721
AA Change: Y23H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107350
Gene: ENSMUSG00000040370
AA Change: Y23H

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 5.5e-15 PFAM
Pfam:Complex1_LYR_1 7 67 5.5e-15 PFAM
Pfam:Complex1_LYR_2 9 85 9.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111723
AA Change: Y23H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107352
Gene: ENSMUSG00000040370
AA Change: Y23H

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111724
AA Change: Y23H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107353
Gene: ENSMUSG00000040370
AA Change: Y23H

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111725
AA Change: Y23H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107354
Gene: ENSMUSG00000040370
AA Change: Y23H

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111726
AA Change: Y23H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107355
Gene: ENSMUSG00000040370
AA Change: Y23H

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 63 2.6e-15 PFAM
Pfam:Complex1_LYR_1 7 74 3.6e-14 PFAM
Pfam:Complex1_LYR_2 9 85 8.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133671
Predicted Effect probably benign
Transcript: ENSMUST00000203147
SMART Domains Protein: ENSMUSP00000145294
Gene: ENSMUSG00000030265

DomainStartEndE-ValueType
small_GTPase 1 53 3.1e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123972
Predicted Effect probably benign
Transcript: ENSMUST00000156486
Predicted Effect probably benign
Transcript: ENSMUST00000111728
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
Pfam:Casc1 228 456 6.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205162
Predicted Effect probably benign
Transcript: ENSMUST00000204105
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 3.4e-57 PFAM
Pfam:Casc1 241 469 2.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203558
Meta Mutation Damage Score 0.6851 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aamp A G 1: 74,320,386 (GRCm39) probably benign Het
Abcb4 A G 5: 8,986,783 (GRCm39) probably null Het
Adam6b T A 12: 113,453,256 (GRCm39) F24L possibly damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Angpt2 T A 8: 18,749,139 (GRCm39) Q326L probably damaging Het
Armc9 T A 1: 86,116,661 (GRCm39) I327N possibly damaging Het
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
Ccdc162 T A 10: 41,532,324 (GRCm39) E450V possibly damaging Het
Ccdc7b G T 8: 129,811,708 (GRCm39) probably benign Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Chia1 T C 3: 106,035,844 (GRCm39) L168P probably damaging Het
Cnot1 A C 8: 96,500,246 (GRCm39) L111V probably damaging Het
Col14a1 A T 15: 55,226,955 (GRCm39) N235I unknown Het
Col2a1 A C 15: 97,881,582 (GRCm39) L787R probably benign Het
Cyp3a25 A T 5: 145,939,841 (GRCm39) D55E probably benign Het
Dennd6a A T 14: 26,349,673 (GRCm39) probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Gemin4 T A 11: 76,103,645 (GRCm39) E372V probably damaging Het
Glyr1 T C 16: 4,836,350 (GRCm39) K500E possibly damaging Het
Gm10271 A T 10: 116,803,943 (GRCm39) probably benign Het
Gm20775 A T Y: 10,641,878 (GRCm39) noncoding transcript Het
Gm5578 A G 6: 112,583,466 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,167 (GRCm39) N234S probably damaging Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Klf17 A G 4: 117,617,898 (GRCm39) V153A possibly damaging Het
L3mbtl2 T C 15: 81,566,170 (GRCm39) V331A possibly damaging Het
Med1 A T 11: 98,070,913 (GRCm39) V110E probably damaging Het
Nsmaf A C 4: 6,417,188 (GRCm39) Y535* probably null Het
Pcdh10 G A 3: 45,336,055 (GRCm39) V790M probably damaging Het
Phlpp1 A G 1: 106,292,068 (GRCm39) T976A probably damaging Het
Prelid3a T C 18: 67,605,967 (GRCm39) Y25H probably damaging Het
Ptprk T A 10: 28,351,284 (GRCm39) probably null Het
Rbm5 A T 9: 107,642,796 (GRCm39) D79E probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rnd3 T A 2: 51,038,242 (GRCm39) T78S possibly damaging Het
Scart2 G T 7: 139,878,281 (GRCm39) G1003* probably null Het
Sgca T C 11: 94,863,396 (GRCm39) T27A possibly damaging Het
Slc10a2 C T 8: 5,155,135 (GRCm39) D17N probably benign Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sptb T A 12: 76,644,553 (GRCm39) T2098S probably damaging Het
Src T A 2: 157,304,946 (GRCm39) L165H probably damaging Het
Srr G T 11: 74,803,898 (GRCm39) Q20K probably benign Het
Stt3b A T 9: 115,095,206 (GRCm39) F275Y probably damaging Het
Sucnr1 C G 3: 59,994,215 (GRCm39) R248G probably damaging Het
Thsd7b A T 1: 130,044,356 (GRCm39) D1112V probably benign Het
Tmem80 A G 7: 140,913,692 (GRCm39) probably benign Het
Top2a C A 11: 98,913,786 (GRCm39) K18N probably damaging Het
Ttc24 T A 3: 87,981,946 (GRCm39) D40V probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zfp3 T A 11: 70,662,333 (GRCm39) S97R probably benign Het
Other mutations in Etfrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0374:Etfrf1 UTSW 6 145,161,288 (GRCm39) missense probably benign
R4111:Etfrf1 UTSW 6 145,161,098 (GRCm39) missense probably damaging 1.00
R9062:Etfrf1 UTSW 6 145,161,153 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATGGGAAGATCTCTGGTTC -3'
(R):5'- GACTGGTGCAATGATTGGTC -3'

Sequencing Primer
(F):5'- CATGGGAAGATCTCTGGTTCTTTAAG -3'
(R):5'- CAATGATTGGTCAGACTTTGGTATC -3'
Posted On 2015-05-14