Incidental Mutation 'IGL01139:Phtf1'
ID50790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phtf1
Ensembl Gene ENSMUSG00000058388
Gene Nameputative homeodomain transcription factor 1
SynonymsPhft
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01139
Quality Score
Status
Chromosome3
Chromosomal Location103968110-104024598 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104005602 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 748 (D748G)
Ref Sequence ENSEMBL: ENSMUSP00000114722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055425] [ENSMUST00000063717] [ENSMUST00000090685] [ENSMUST00000117150] [ENSMUST00000145727]
Predicted Effect probably damaging
Transcript: ENSMUST00000055425
AA Change: D695G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: D695G

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 60 8.6e-31 PFAM
Pfam:Phtf-FEM1B_bdg 57 105 5.2e-18 PFAM
low complexity region 117 128 N/A INTRINSIC
low complexity region 294 317 N/A INTRINSIC
transmembrane domain 470 492 N/A INTRINSIC
transmembrane domain 557 579 N/A INTRINSIC
transmembrane domain 594 611 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000063717
AA Change: D748G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: D748G

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 5 151 9.9e-73 PFAM
low complexity region 155 163 N/A INTRINSIC
low complexity region 170 181 N/A INTRINSIC
low complexity region 347 370 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 512 534 N/A INTRINSIC
transmembrane domain 610 632 N/A INTRINSIC
transmembrane domain 647 664 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090685
AA Change: D703G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: D703G

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 158 8.9e-89 PFAM
low complexity region 302 325 N/A INTRINSIC
transmembrane domain 428 447 N/A INTRINSIC
transmembrane domain 467 489 N/A INTRINSIC
transmembrane domain 565 587 N/A INTRINSIC
transmembrane domain 602 619 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117150
AA Change: D748G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: D748G

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 158 1.6e-88 PFAM
low complexity region 170 181 N/A INTRINSIC
low complexity region 347 370 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 512 534 N/A INTRINSIC
transmembrane domain 610 632 N/A INTRINSIC
transmembrane domain 647 664 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000145727
AA Change: D748G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: D748G

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 158 1.6e-88 PFAM
low complexity region 170 181 N/A INTRINSIC
low complexity region 347 370 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 512 534 N/A INTRINSIC
transmembrane domain 610 632 N/A INTRINSIC
transmembrane domain 647 664 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150090
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,405,885 I215N probably damaging Het
Ambn C T 5: 88,464,517 probably benign Het
Arhgef1 T A 7: 24,925,951 probably benign Het
Arid1a A C 4: 133,693,997 S832R unknown Het
Clca4a A T 3: 144,966,269 I304N probably damaging Het
Dmxl2 G A 9: 54,458,964 P274S probably damaging Het
Eif4enif1 T A 11: 3,221,143 D211E probably damaging Het
Eri2 A G 7: 119,786,737 probably null Het
Fhod3 C T 18: 25,066,344 P691S probably benign Het
Flnb A G 14: 7,945,989 S2465G probably damaging Het
Ftsj1 G A X: 8,246,592 R171C probably damaging Het
Glb1l3 G A 9: 26,818,227 T648I probably benign Het
Gm4222 T A 2: 90,148,545 probably benign Het
Gm438 A T 4: 144,777,689 Y297* probably null Het
Gm5475 G A 15: 100,424,215 probably benign Het
Jaml C A 9: 45,101,019 T268N possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Lrba A G 3: 86,642,662 T217A possibly damaging Het
Ltn1 A G 16: 87,416,009 S555P probably benign Het
Map3k15 T A X: 160,072,879 M350K probably damaging Het
Mipol1 C A 12: 57,306,035 Y53* probably null Het
Mn1 A G 5: 111,421,449 D1095G probably damaging Het
Myh14 T C 7: 44,606,292 probably benign Het
Nrn1 A G 13: 36,730,216 C31R probably damaging Het
Nup210 A T 6: 91,030,097 L579H possibly damaging Het
Nxf2 T C X: 134,950,396 I578V probably benign Het
Obscn G A 11: 59,078,352 A172V probably damaging Het
Olfr1006 T G 2: 85,674,497 Y218S probably damaging Het
Olfr55 T A 17: 33,176,782 Y123N probably damaging Het
Psd3 A T 8: 67,908,535 Y863N probably damaging Het
Psmc6 C T 14: 45,343,710 T321I probably benign Het
Rassf6 T C 5: 90,608,966 *31W probably null Het
Rictor A C 15: 6,778,268 K791Q probably damaging Het
Slc12a9 C T 5: 137,322,842 M470I probably damaging Het
Tex28 A T X: 74,151,224 M367K possibly damaging Het
Thnsl2 A T 6: 71,138,734 V163D probably damaging Het
Tmco3 G A 8: 13,319,887 R633Q possibly damaging Het
Trf A T 9: 103,223,604 V224D probably damaging Het
Ttc8 C T 12: 98,964,545 Q273* probably null Het
Usp9x A G X: 13,104,576 probably benign Het
Vmn2r117 A G 17: 23,477,804 W210R probably damaging Het
Vmn2r5 A G 3: 64,491,405 S718P probably benign Het
Vps13a T C 19: 16,640,625 D2932G probably damaging Het
Whamm T C 7: 81,595,914 L706P probably damaging Het
Yeats2 G A 16: 20,214,393 V45I probably damaging Het
Yipf3 G A 17: 46,250,457 probably null Het
Zeb1 T C 18: 5,705,061 V26A possibly damaging Het
Other mutations in Phtf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Phtf1 APN 3 103988667 missense probably benign
IGL01677:Phtf1 APN 3 103998783 missense probably damaging 1.00
IGL02169:Phtf1 APN 3 103997499 missense probably benign
IGL02542:Phtf1 APN 3 103993906 splice site probably benign
IGL02557:Phtf1 APN 3 103998765 missense probably damaging 1.00
IGL02697:Phtf1 APN 3 103997563 missense probably benign
IGL02807:Phtf1 APN 3 103997553 missense probably benign 0.00
R0140:Phtf1 UTSW 3 103987560 missense probably null 1.00
R0555:Phtf1 UTSW 3 104004469 missense probably damaging 1.00
R0620:Phtf1 UTSW 3 103993765 missense probably damaging 1.00
R1480:Phtf1 UTSW 3 103987434 nonsense probably null
R1799:Phtf1 UTSW 3 103996642 missense probably benign 0.01
R1804:Phtf1 UTSW 3 103987567 unclassified probably benign
R1921:Phtf1 UTSW 3 103969122 nonsense probably null
R1943:Phtf1 UTSW 3 103993882 nonsense probably null
R2006:Phtf1 UTSW 3 104004483 critical splice donor site probably null
R3729:Phtf1 UTSW 3 103985779 missense probably benign 0.00
R3731:Phtf1 UTSW 3 103985779 missense probably benign 0.00
R4051:Phtf1 UTSW 3 104005508 missense possibly damaging 0.92
R4210:Phtf1 UTSW 3 104003603 critical splice donor site probably null
R4211:Phtf1 UTSW 3 104003603 critical splice donor site probably null
R4730:Phtf1 UTSW 3 103987435 missense probably damaging 1.00
R4982:Phtf1 UTSW 3 103998708 missense probably damaging 1.00
R5314:Phtf1 UTSW 3 103999287 missense probably damaging 1.00
R5321:Phtf1 UTSW 3 104003511 missense probably benign 0.31
R5499:Phtf1 UTSW 3 103991175 missense probably benign 0.00
R6134:Phtf1 UTSW 3 104004405 missense probably damaging 0.99
R6603:Phtf1 UTSW 3 103993873 missense probably damaging 1.00
R7242:Phtf1 UTSW 3 103998696 missense probably damaging 0.99
R7311:Phtf1 UTSW 3 103997664 missense possibly damaging 0.64
R7519:Phtf1 UTSW 3 103969119 missense probably damaging 1.00
Posted On2013-06-21