Incidental Mutation 'BB005:Rhbdf1'
ID 642317
Institutional Source Beutler Lab
Gene Symbol Rhbdf1
Ensembl Gene ENSMUSG00000020282
Gene Name rhomboid 5 homolog 1
Synonyms Dist, Egfr-rs, Dist1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # BB005
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 32159585-32172300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32159898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 826 (Y826C)
Ref Sequence ENSEMBL: ENSMUSP00000020524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000039601] [ENSMUST00000121182] [ENSMUST00000132578] [ENSMUST00000143988] [ENSMUST00000146179] [ENSMUST00000149043]
AlphaFold Q6PIX5
Predicted Effect possibly damaging
Transcript: ENSMUST00000020524
AA Change: Y826C

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: Y826C

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
Pfam:Rhomboid_SP 91 308 1.6e-116 PFAM
Pfam:Rhomboid 648 792 2.1e-32 PFAM
transmembrane domain 805 827 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039601
SMART Domains Protein: ENSMUSP00000046654
Gene: ENSMUSG00000040767

DomainStartEndE-ValueType
PDB:1V2Y|A 31 123 4e-63 PDB
Blast:UBQ 32 119 1e-30 BLAST
SCOP:d1euvb_ 32 121 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121182
SMART Domains Protein: ENSMUSP00000112483
Gene: ENSMUSG00000040767

DomainStartEndE-ValueType
PDB:1V2Y|A 31 83 4e-28 PDB
Blast:UBQ 32 83 2e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000132578
SMART Domains Protein: ENSMUSP00000120543
Gene: ENSMUSG00000020282

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
Pfam:Rhomboid_SP 91 158 7.9e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143988
AA Change: Y201C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282
AA Change: Y201C

DomainStartEndE-ValueType
Pfam:Rhomboid 52 167 1.6e-24 PFAM
transmembrane domain 181 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146179
SMART Domains Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
Pfam:Rhomboid_SP 91 155 7.1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149043
SMART Domains Protein: ENSMUSP00000119306
Gene: ENSMUSG00000040767

DomainStartEndE-ValueType
PDB:1V2Y|A 31 96 1e-40 PDB
Blast:UBQ 32 96 3e-15 BLAST
Meta Mutation Damage Score 0.1885 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show pleiotropic phenotypes and postnatal lethality largely dependent on the genetic background. Observed defects range from small size, reduced fat mass, and brain haemorrhages to small lymph organs, thrombosis, abnormal pancreatic acini, and behavioral deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T A 15: 74,410,170 (GRCm39) W270R probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
App A T 16: 84,775,134 (GRCm39) V501D probably benign Het
Cnot6l A G 5: 96,278,927 (GRCm39) V97A possibly damaging Het
Cntrob A G 11: 69,191,121 (GRCm39) L831P probably damaging Het
Dmbt1 T C 7: 130,639,620 (GRCm39) S53P probably benign Het
Dnah2 T C 11: 69,321,661 (GRCm39) D3833G probably damaging Het
Dock4 T C 12: 40,838,302 (GRCm39) L1081P probably damaging Het
Dock7 T C 4: 98,889,335 (GRCm39) N185D Het
Dsn1 T C 2: 156,847,932 (GRCm39) probably benign Het
Evpl T C 11: 116,113,359 (GRCm39) T1444A possibly damaging Het
Fanci T C 7: 79,094,459 (GRCm39) L1130P probably benign Het
Fancm A G 12: 65,152,898 (GRCm39) D1118G unknown Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gm11596 A G 11: 99,683,622 (GRCm39) V166A unknown Het
Gm2696 A T 10: 77,650,723 (GRCm39) T70S unknown Het
Gm5773 A G 3: 93,680,997 (GRCm39) E223G probably damaging Het
Madd T A 2: 91,007,233 (GRCm39) D293V probably damaging Het
Odam A G 5: 88,035,269 (GRCm39) T78A possibly damaging Het
Or52ae9 T A 7: 103,390,397 (GRCm39) I17F probably damaging Het
Rassf3 A G 10: 121,252,984 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf13 C A 3: 57,671,729 (GRCm39) Q14K probably benign Het
Sec13 A G 6: 113,706,601 (GRCm39) S271P probably damaging Het
Sema6c T C 3: 95,079,620 (GRCm39) L638P probably damaging Het
Sgsh T G 11: 119,238,561 (GRCm39) H301P probably benign Het
Shh T C 5: 28,666,404 (GRCm39) M161V possibly damaging Het
Stil C T 4: 114,887,198 (GRCm39) H764Y probably damaging Het
Vmn1r203 C T 13: 22,708,705 (GRCm39) T162I probably benign Het
Zfp950 G T 19: 61,107,938 (GRCm39) P382T probably damaging Het
Zzef1 T C 11: 72,712,722 (GRCm39) M214T probably damaging Het
Other mutations in Rhbdf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Rhbdf1 APN 11 32,163,484 (GRCm39) missense probably benign
IGL02183:Rhbdf1 APN 11 32,160,543 (GRCm39) missense probably damaging 1.00
IGL02793:Rhbdf1 APN 11 32,163,293 (GRCm39) missense possibly damaging 0.92
IGL02875:Rhbdf1 APN 11 32,163,293 (GRCm39) missense possibly damaging 0.92
BB015:Rhbdf1 UTSW 11 32,159,898 (GRCm39) missense possibly damaging 0.93
FR4589:Rhbdf1 UTSW 11 32,164,391 (GRCm39) unclassified probably benign
R0071:Rhbdf1 UTSW 11 32,160,498 (GRCm39) missense probably damaging 1.00
R0180:Rhbdf1 UTSW 11 32,160,042 (GRCm39) missense possibly damaging 0.76
R0512:Rhbdf1 UTSW 11 32,160,875 (GRCm39) nonsense probably null
R0843:Rhbdf1 UTSW 11 32,165,053 (GRCm39) missense probably damaging 1.00
R0880:Rhbdf1 UTSW 11 32,163,432 (GRCm39) splice site probably null
R1952:Rhbdf1 UTSW 11 32,164,277 (GRCm39) nonsense probably null
R2017:Rhbdf1 UTSW 11 32,160,471 (GRCm39) missense probably damaging 1.00
R2076:Rhbdf1 UTSW 11 32,164,088 (GRCm39) missense probably benign 0.01
R3032:Rhbdf1 UTSW 11 32,159,985 (GRCm39) missense probably damaging 1.00
R4355:Rhbdf1 UTSW 11 32,166,236 (GRCm39) missense probably damaging 1.00
R4429:Rhbdf1 UTSW 11 32,163,369 (GRCm39) missense probably benign 0.00
R4865:Rhbdf1 UTSW 11 32,164,517 (GRCm39) missense probably damaging 1.00
R5585:Rhbdf1 UTSW 11 32,160,222 (GRCm39) splice site probably null
R5728:Rhbdf1 UTSW 11 32,159,901 (GRCm39) splice site probably null
R5925:Rhbdf1 UTSW 11 32,162,906 (GRCm39) missense probably benign 0.24
R5940:Rhbdf1 UTSW 11 32,159,847 (GRCm39) missense probably benign 0.00
R6083:Rhbdf1 UTSW 11 32,160,066 (GRCm39) missense probably damaging 1.00
R6088:Rhbdf1 UTSW 11 32,162,007 (GRCm39) missense possibly damaging 0.62
R6361:Rhbdf1 UTSW 11 32,162,915 (GRCm39) missense possibly damaging 0.92
R6692:Rhbdf1 UTSW 11 32,165,652 (GRCm39) missense probably damaging 0.98
R6727:Rhbdf1 UTSW 11 32,164,042 (GRCm39) missense possibly damaging 0.78
R6825:Rhbdf1 UTSW 11 32,159,970 (GRCm39) missense probably damaging 1.00
R7589:Rhbdf1 UTSW 11 32,162,903 (GRCm39) missense probably benign 0.01
R7928:Rhbdf1 UTSW 11 32,159,898 (GRCm39) missense possibly damaging 0.93
R7940:Rhbdf1 UTSW 11 32,166,258 (GRCm39) start codon destroyed possibly damaging 0.79
R7957:Rhbdf1 UTSW 11 32,160,523 (GRCm39) missense probably damaging 1.00
R8220:Rhbdf1 UTSW 11 32,164,563 (GRCm39) missense probably benign 0.30
R8490:Rhbdf1 UTSW 11 32,160,162 (GRCm39) missense probably damaging 0.98
R8939:Rhbdf1 UTSW 11 32,160,093 (GRCm39) missense probably benign 0.00
R9040:Rhbdf1 UTSW 11 32,163,063 (GRCm39) missense probably benign 0.23
R9257:Rhbdf1 UTSW 11 32,160,754 (GRCm39) missense probably benign 0.00
R9509:Rhbdf1 UTSW 11 32,165,055 (GRCm39) missense possibly damaging 0.96
R9575:Rhbdf1 UTSW 11 32,163,101 (GRCm39) missense probably benign 0.00
R9654:Rhbdf1 UTSW 11 32,166,028 (GRCm39) missense probably benign
V3553:Rhbdf1 UTSW 11 32,161,583 (GRCm39) missense probably damaging 1.00
Z1176:Rhbdf1 UTSW 11 32,165,125 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GTACTAAATGCCCAGCAGTGTAAG -3'
(R):5'- TGCCCTGGATCGACAACTTC -3'

Sequencing Primer
(F):5'- TGCCCAGCAGTGTAAGCGTAC -3'
(R):5'- AACTTCGCCCACATCTCGGG -3'
Posted On 2020-08-01