Incidental Mutation 'IGL02342:Fam71f1'
ID289124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam71f1
Ensembl Gene ENSMUSG00000039742
Gene Namefamily with sequence similarity 71, member F1
SynonymsLOC330277
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL02342
Quality Score
Status
Chromosome6
Chromosomal Location29319140-29336019 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29323830 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 185 (T185A)
Ref Sequence ENSEMBL: ENSMUSP00000132703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090487] [ENSMUST00000163229] [ENSMUST00000164560] [ENSMUST00000166462]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090487
AA Change: T185A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000087973
Gene: ENSMUSG00000039742
AA Change: T185A

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Pfam:DUF3699 136 210 5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163229
SMART Domains Protein: ENSMUSP00000132402
Gene: ENSMUSG00000039742

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164560
AA Change: T185A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126496
Gene: ENSMUSG00000039742
AA Change: T185A

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Pfam:DUF3699 137 208 7e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166462
AA Change: T185A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132703
Gene: ENSMUSG00000039742
AA Change: T185A

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Pfam:DUF3699 136 210 3.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171782
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,175,001 P97Q probably damaging Het
Abcb10 A T 8: 123,962,034 V501E probably damaging Het
Acsf3 T C 8: 122,817,498 Y572H probably benign Het
Adamts3 A T 5: 89,691,473 probably null Het
Alox8 A G 11: 69,186,227 L480P probably damaging Het
Arhgap35 G A 7: 16,562,380 T920I probably benign Het
Brca2 C A 5: 150,542,824 L2018M possibly damaging Het
Brdt C A 5: 107,342,203 H45N probably damaging Het
C1s2 A G 6: 124,632,116 F155L probably damaging Het
Ccser2 A G 14: 36,918,605 probably benign Het
Cd8a T A 6: 71,373,739 C63S probably damaging Het
Clk2 A T 3: 89,175,691 T424S probably benign Het
Cntn1 A G 15: 92,246,017 E287G probably benign Het
Cobl A C 11: 12,253,672 V928G possibly damaging Het
Col12a1 A G 9: 79,649,896 probably null Het
Crnkl1 A T 2: 145,924,713 probably null Het
Defb26 T C 2: 152,508,201 N53S possibly damaging Het
Duox1 A T 2: 122,347,312 T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 L1233P probably damaging Het
Eif5a2 A G 3: 28,793,761 E116G possibly damaging Het
Fam208a T A 14: 27,476,667 S1319T possibly damaging Het
Gdap2 G A 3: 100,178,316 A185T probably damaging Het
Grm8 T C 6: 27,363,804 R571G probably benign Het
Hfe2 G A 3: 96,528,172 D249N possibly damaging Het
Hsp90b1 T C 10: 86,695,739 probably null Het
Ighv1-75 T G 12: 115,834,258 probably benign Het
Ikzf1 A G 11: 11,700,216 probably benign Het
Kdm4d A G 9: 14,463,564 W333R probably damaging Het
Lama3 A T 18: 12,491,476 N1426I probably damaging Het
Lmbrd1 A G 1: 24,704,878 Y119C probably damaging Het
Mctp1 A G 13: 77,024,857 Y884C probably damaging Het
Naip6 G T 13: 100,303,240 P340T possibly damaging Het
Nfkbib G T 7: 28,762,103 H70N probably damaging Het
Nol4 A T 18: 22,770,869 probably benign Het
Obscn C T 11: 59,001,088 A6873T probably benign Het
Olfr66 T A 7: 103,881,380 I288F probably benign Het
Olfr705 A G 7: 106,714,025 S219P probably benign Het
Olfr986 T A 9: 40,187,527 N137K probably benign Het
Paqr6 A G 3: 88,366,184 Y136C probably damaging Het
Pcdh18 T A 3: 49,756,044 D274V probably damaging Het
Phip A G 9: 82,886,692 Y1196H probably damaging Het
Prc1 T C 7: 80,309,442 L345S probably damaging Het
Smpdl3a A G 10: 57,809,180 probably benign Het
Ssfa2 A G 2: 79,660,285 N943S probably benign Het
Tac1 G T 6: 7,559,119 probably null Het
Tg A G 15: 66,764,291 T576A probably benign Het
Thbs2 A T 17: 14,676,316 D770E probably damaging Het
Tmem117 T C 15: 95,011,450 V248A possibly damaging Het
Trpm8 T C 1: 88,328,250 I209T possibly damaging Het
Ttc30a1 G T 2: 75,980,632 T369K probably benign Het
Wrap53 A G 11: 69,563,591 F244L probably damaging Het
Wrap73 A T 4: 154,148,780 Q137L probably benign Het
Zfhx4 A T 3: 5,402,374 T2531S probably benign Het
Other mutations in Fam71f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Fam71f1 APN 6 29320701 missense probably damaging 0.99
R0402:Fam71f1 UTSW 6 29323902 missense probably benign 0.01
R0467:Fam71f1 UTSW 6 29326607 missense probably damaging 1.00
R0610:Fam71f1 UTSW 6 29326577 missense probably benign 0.01
R1773:Fam71f1 UTSW 6 29334153 missense possibly damaging 0.83
R1950:Fam71f1 UTSW 6 29335816 utr 3 prime probably null
R4259:Fam71f1 UTSW 6 29320801 missense probably damaging 1.00
R4305:Fam71f1 UTSW 6 29326612 missense probably damaging 1.00
R4351:Fam71f1 UTSW 6 29320801 missense probably damaging 1.00
R4508:Fam71f1 UTSW 6 29323765 missense probably benign 0.04
R5014:Fam71f1 UTSW 6 29326724 intron probably benign
R5249:Fam71f1 UTSW 6 29323897 missense probably damaging 1.00
R5506:Fam71f1 UTSW 6 29319298 missense probably damaging 1.00
R6212:Fam71f1 UTSW 6 29319374 missense probably damaging 1.00
R6456:Fam71f1 UTSW 6 29334046 missense probably benign
R6949:Fam71f1 UTSW 6 29323906 missense probably damaging 1.00
R7047:Fam71f1 UTSW 6 29323810 missense probably damaging 1.00
X0065:Fam71f1 UTSW 6 29326661 missense probably damaging 1.00
Posted On2015-04-16