Incidental Mutation 'IGL03163:Zftraf1'
ID 411531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zftraf1
Ensembl Gene ENSMUSG00000053929
Gene Name zinc finger TRAF type containing 1
Synonyms Cyhr1, Chrp, 1110031M01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # IGL03163
Quality Score
Status
Chromosome 15
Chromosomal Location 76527586-76541120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76543474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 13 (L13Q)
Ref Sequence ENSEMBL: ENSMUSP00000155579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000066677] [ENSMUST00000081291] [ENSMUST00000176274] [ENSMUST00000177359] [ENSMUST00000231152] [ENSMUST00000229524] [ENSMUST00000230451] [ENSMUST00000230964]
AlphaFold Q9QXA1
Predicted Effect probably benign
Transcript: ENSMUST00000004294
SMART Domains Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 36 45 N/A INTRINSIC
low complexity region 117 129 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
coiled coil region 195 235 N/A INTRINSIC
coiled coil region 274 345 N/A INTRINSIC
KISc 407 740 3.21e-141 SMART
low complexity region 745 781 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000066677
AA Change: L13Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929
AA Change: L13Q

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
transmembrane domain 91 108 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081291
AA Change: L13Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929
AA Change: L13Q

DomainStartEndE-ValueType
SCOP:d1jm7a_ 21 88 3e-5 SMART
Blast:RING 27 62 8e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000176274
SMART Domains Protein: ENSMUSP00000134739
Gene: ENSMUSG00000053929

DomainStartEndE-ValueType
low complexity region 3 48 N/A INTRINSIC
low complexity region 78 91 N/A INTRINSIC
RING 106 150 1.9e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177359
AA Change: L13Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929
AA Change: L13Q

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
transmembrane domain 91 108 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229513
Predicted Effect probably damaging
Transcript: ENSMUST00000231152
AA Change: L13Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230124
Predicted Effect probably benign
Transcript: ENSMUST00000229524
Predicted Effect probably benign
Transcript: ENSMUST00000230451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230719
Predicted Effect probably benign
Transcript: ENSMUST00000230964
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,228,191 (GRCm39) D393V probably benign Het
Amz2 C A 11: 109,319,751 (GRCm39) Q46K probably benign Het
Ankhd1 G A 18: 36,780,681 (GRCm39) R1911H probably damaging Het
Apba3 A G 10: 81,105,057 (GRCm39) probably null Het
Atxn1l T C 8: 110,459,017 (GRCm39) N415S probably damaging Het
Clu C T 14: 66,217,235 (GRCm39) S356F probably benign Het
Cluh T C 11: 74,556,894 (GRCm39) V1029A probably benign Het
Creb3 C T 4: 43,566,315 (GRCm39) L274F probably damaging Het
Dcaf8 T C 1: 172,000,475 (GRCm39) V211A probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fam131c T C 4: 141,110,069 (GRCm39) F156L probably damaging Het
Fbxw21 T A 9: 108,974,552 (GRCm39) I323F probably benign Het
Fmo9 A G 1: 166,502,019 (GRCm39) V202A possibly damaging Het
Gipr C T 7: 18,896,481 (GRCm39) W205* probably null Het
Gm13941 A T 2: 110,928,761 (GRCm39) I99K unknown Het
Gpr22 A T 12: 31,759,171 (GRCm39) V317E possibly damaging Het
Hace1 T C 10: 45,548,701 (GRCm39) I582T probably damaging Het
Iho1 G T 9: 108,282,132 (GRCm39) L519I probably benign Het
Khdrbs1 T C 4: 129,619,508 (GRCm39) E211G probably benign Het
Lonrf1 T C 8: 36,697,484 (GRCm39) D500G probably benign Het
Lrp2 A C 2: 69,331,870 (GRCm39) Y1628* probably null Het
Lrrc40 T C 3: 157,747,224 (GRCm39) I112T possibly damaging Het
Matr3 G A 18: 35,705,644 (GRCm39) D190N probably damaging Het
Or8c16 T C 9: 38,130,710 (GRCm39) V194A probably benign Het
Ptpn13 A T 5: 103,739,212 (GRCm39) D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 (GRCm39) D557G probably damaging Het
Rangap1 A T 15: 81,600,801 (GRCm39) N194K probably damaging Het
Rasgef1c T C 11: 49,862,200 (GRCm39) V363A possibly damaging Het
Ric8b A G 10: 84,837,686 (GRCm39) N498D probably damaging Het
Scn1a A C 2: 66,148,418 (GRCm39) D22E probably benign Het
Spc25 T G 2: 69,027,548 (GRCm39) I115L probably damaging Het
Sspo A G 6: 48,461,266 (GRCm39) H3569R probably benign Het
Stra6l T C 4: 45,881,455 (GRCm39) I439T probably benign Het
Trappc12 G T 12: 28,796,653 (GRCm39) P293Q probably damaging Het
Trcg1 T C 9: 57,155,630 (GRCm39) L761P possibly damaging Het
Usp15 A C 10: 123,007,049 (GRCm39) M144R probably damaging Het
Vmn2r11 T C 5: 109,201,692 (GRCm39) I271V probably benign Het
Zcchc2 T C 1: 105,958,841 (GRCm39) V1104A probably damaging Het
Other mutations in Zftraf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Zftraf1 APN 15 76,530,738 (GRCm39) missense probably damaging 1.00
R0107:Zftraf1 UTSW 15 76,530,547 (GRCm39) missense possibly damaging 0.90
R0445:Zftraf1 UTSW 15 76,532,457 (GRCm39) missense probably damaging 1.00
R0759:Zftraf1 UTSW 15 76,530,385 (GRCm39) makesense probably null
R1327:Zftraf1 UTSW 15 76,533,376 (GRCm39) missense probably damaging 0.98
R1366:Zftraf1 UTSW 15 76,533,169 (GRCm39) missense probably damaging 0.96
R1950:Zftraf1 UTSW 15 76,543,417 (GRCm39) critical splice donor site probably null
R3416:Zftraf1 UTSW 15 76,542,915 (GRCm39) splice site probably null
R5092:Zftraf1 UTSW 15 76,530,512 (GRCm39) missense probably benign 0.11
R5749:Zftraf1 UTSW 15 76,542,844 (GRCm39) splice site probably null
R5860:Zftraf1 UTSW 15 76,540,615 (GRCm39) missense probably damaging 1.00
R5860:Zftraf1 UTSW 15 76,532,391 (GRCm39) missense probably damaging 1.00
R6032:Zftraf1 UTSW 15 76,543,058 (GRCm39) missense probably damaging 0.99
R6032:Zftraf1 UTSW 15 76,543,058 (GRCm39) missense probably damaging 0.99
R6397:Zftraf1 UTSW 15 76,532,391 (GRCm39) missense probably damaging 1.00
R6481:Zftraf1 UTSW 15 76,542,908 (GRCm39) splice site probably null
R6533:Zftraf1 UTSW 15 76,531,930 (GRCm39) nonsense probably null
R7466:Zftraf1 UTSW 15 76,532,386 (GRCm39) missense probably benign 0.29
R7484:Zftraf1 UTSW 15 76,530,435 (GRCm39) missense probably damaging 1.00
R7629:Zftraf1 UTSW 15 76,532,386 (GRCm39) missense probably benign 0.29
R7732:Zftraf1 UTSW 15 76,532,386 (GRCm39) missense probably benign 0.29
R7763:Zftraf1 UTSW 15 76,542,747 (GRCm39) missense probably damaging 0.99
R7861:Zftraf1 UTSW 15 76,532,386 (GRCm39) missense probably benign 0.29
R9300:Zftraf1 UTSW 15 76,530,541 (GRCm39) missense probably benign 0.05
Posted On 2016-08-02