Incidental Mutation 'R3731:Phtf1'
ID 270972
Institutional Source Beutler Lab
Gene Symbol Phtf1
Ensembl Gene ENSMUSG00000058388
Gene Name putative homeodomain transcription factor 1
Synonyms Phft
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3731 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 103875426-103914806 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103893095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 120 (M120V)
Ref Sequence ENSEMBL: ENSMUSP00000118281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055425] [ENSMUST00000063717] [ENSMUST00000090685] [ENSMUST00000117150] [ENSMUST00000123611] [ENSMUST00000145727] [ENSMUST00000150849] [ENSMUST00000156262]
AlphaFold Q9QZ09
Predicted Effect probably benign
Transcript: ENSMUST00000055425
AA Change: M67V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: M67V

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 benign
Transcript: ENSMUST00000063717
AA Change: M120V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: M120V

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 probably benign
Transcript: ENSMUST00000090685
AA Change: M120V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: M120V

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 benign
Transcript: ENSMUST00000117150
AA Change: M120V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: M120V

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 benign
Transcript: ENSMUST00000123611
AA Change: M101V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116193
Gene: ENSMUSG00000058388
AA Change: M101V

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 9 139 1.7e-67 PFAM
low complexity region 151 162 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145727
AA Change: M120V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: M120V

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 benign
Transcript: ENSMUST00000150849
AA Change: M120V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000118281
Gene: ENSMUSG00000058388
AA Change: M120V

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 158 4.5e-90 PFAM
low complexity region 170 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150090
Predicted Effect probably benign
Transcript: ENSMUST00000156262
AA Change: M67V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121036
Gene: ENSMUSG00000058388
AA Change: M67V

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 60 1e-31 PFAM
Pfam:Phtf-FEM1B_bdg 57 105 7.2e-19 PFAM
low complexity region 117 128 N/A INTRINSIC
Meta Mutation Damage Score 0.0763 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,427,485 (GRCm39) probably null Het
Abcc5 A T 16: 20,217,684 (GRCm39) Y5* probably null Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Adar T C 3: 89,653,962 (GRCm39) I325T probably damaging Het
Akap13 T C 7: 75,261,125 (GRCm39) S92P probably benign Het
Atp1a4 A T 1: 172,061,528 (GRCm39) V771E probably damaging Het
Cfh A G 1: 140,047,708 (GRCm39) S492P possibly damaging Het
Crlf1 A G 8: 70,952,092 (GRCm39) T95A probably benign Het
Dennd2d T G 3: 106,407,271 (GRCm39) F441V probably damaging Het
Dhx33 T C 11: 70,879,978 (GRCm39) D344G probably benign Het
Disp3 A G 4: 148,337,284 (GRCm39) S844P probably benign Het
Dock2 T C 11: 34,599,722 (GRCm39) K286E probably damaging Het
Fam228a T C 12: 4,768,671 (GRCm39) E203G probably benign Het
Fbxo38 GTGCTGCTGCTGCTGCTGCTGC GTGCTGCTGCTGCTGCTGC 18: 62,648,399 (GRCm39) probably benign Het
Frmpd4 G A X: 166,269,803 (GRCm39) T493M probably damaging Het
Galnt13 A G 2: 54,823,519 (GRCm39) N365S possibly damaging Het
Hrob A G 11: 102,148,732 (GRCm39) E381G possibly damaging Het
Ighv1-19 C A 12: 114,672,497 (GRCm39) C40F probably damaging Het
Ints4 A G 7: 97,155,308 (GRCm39) Q320R probably benign Het
Kctd5 T C 17: 24,278,212 (GRCm39) D146G probably benign Het
Loxl3 T C 6: 83,027,652 (GRCm39) probably null Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrp2 A T 2: 69,365,251 (GRCm39) probably null Het
Manba G A 3: 135,260,611 (GRCm39) V599I probably benign Het
Mbd6 A G 10: 127,121,637 (GRCm39) probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nepn A T 10: 52,280,110 (GRCm39) N401Y probably damaging Het
Nol10 A T 12: 17,474,674 (GRCm39) K622I probably benign Het
Npas3 T C 12: 53,401,175 (GRCm39) I40T probably benign Het
Or1e29 T C 11: 73,667,565 (GRCm39) E196G probably benign Het
Or1j19 A T 2: 36,676,578 (GRCm39) I14F possibly damaging Het
Or2d4 T A 7: 106,543,684 (GRCm39) N175Y probably damaging Het
Or4n4b T A 14: 50,535,962 (GRCm39) D268V probably damaging Het
Or5p73 T C 7: 108,064,633 (GRCm39) I34T possibly damaging Het
Or8g33 T A 9: 39,338,365 (GRCm39) M1L probably benign Het
Plxna2 A G 1: 194,471,193 (GRCm39) Y988C probably benign Het
Rgs12 G A 5: 35,189,595 (GRCm39) E658K probably damaging Het
Ripor3 C G 2: 167,834,739 (GRCm39) E251Q probably damaging Het
Sec24b T C 3: 129,827,482 (GRCm39) K203R possibly damaging Het
Serpina1d T A 12: 103,734,164 (GRCm39) N47Y possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sirpb1c T C 3: 15,887,287 (GRCm39) K184R probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Upp2 T C 2: 58,645,379 (GRCm39) S41P probably benign Het
Vmn1r10 A G 6: 57,090,719 (GRCm39) T104A probably damaging Het
Wdhd1 A C 14: 47,485,349 (GRCm39) S838R possibly damaging Het
Zer1 A G 2: 30,000,923 (GRCm39) V166A probably benign Het
Zfp217 T C 2: 169,956,308 (GRCm39) N897D probably benign Het
Zfp960 T A 17: 17,308,633 (GRCm39) L449H probably damaging Het
Other mutations in Phtf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Phtf1 APN 3 103,895,983 (GRCm39) missense probably benign
IGL01139:Phtf1 APN 3 103,912,918 (GRCm39) missense probably damaging 1.00
IGL01677:Phtf1 APN 3 103,906,099 (GRCm39) missense probably damaging 1.00
IGL02169:Phtf1 APN 3 103,904,815 (GRCm39) missense probably benign
IGL02542:Phtf1 APN 3 103,901,222 (GRCm39) splice site probably benign
IGL02557:Phtf1 APN 3 103,906,081 (GRCm39) missense probably damaging 1.00
IGL02697:Phtf1 APN 3 103,904,879 (GRCm39) missense probably benign
IGL02807:Phtf1 APN 3 103,904,869 (GRCm39) missense probably benign 0.00
R0140:Phtf1 UTSW 3 103,894,876 (GRCm39) missense probably null 1.00
R0555:Phtf1 UTSW 3 103,911,785 (GRCm39) missense probably damaging 1.00
R0620:Phtf1 UTSW 3 103,901,081 (GRCm39) missense probably damaging 1.00
R1480:Phtf1 UTSW 3 103,894,750 (GRCm39) nonsense probably null
R1799:Phtf1 UTSW 3 103,903,958 (GRCm39) missense probably benign 0.01
R1804:Phtf1 UTSW 3 103,894,883 (GRCm39) unclassified probably benign
R1921:Phtf1 UTSW 3 103,876,438 (GRCm39) nonsense probably null
R1943:Phtf1 UTSW 3 103,901,198 (GRCm39) nonsense probably null
R2006:Phtf1 UTSW 3 103,911,799 (GRCm39) critical splice donor site probably null
R3729:Phtf1 UTSW 3 103,893,095 (GRCm39) missense probably benign 0.00
R4051:Phtf1 UTSW 3 103,912,824 (GRCm39) missense possibly damaging 0.92
R4210:Phtf1 UTSW 3 103,910,919 (GRCm39) critical splice donor site probably null
R4211:Phtf1 UTSW 3 103,910,919 (GRCm39) critical splice donor site probably null
R4730:Phtf1 UTSW 3 103,894,751 (GRCm39) missense probably damaging 1.00
R4982:Phtf1 UTSW 3 103,906,024 (GRCm39) missense probably damaging 1.00
R5314:Phtf1 UTSW 3 103,906,603 (GRCm39) missense probably damaging 1.00
R5321:Phtf1 UTSW 3 103,910,827 (GRCm39) missense probably benign 0.31
R5499:Phtf1 UTSW 3 103,898,491 (GRCm39) missense probably benign 0.00
R6134:Phtf1 UTSW 3 103,911,721 (GRCm39) missense probably damaging 0.99
R6603:Phtf1 UTSW 3 103,901,189 (GRCm39) missense probably damaging 1.00
R7242:Phtf1 UTSW 3 103,906,012 (GRCm39) missense probably damaging 0.99
R7311:Phtf1 UTSW 3 103,904,980 (GRCm39) missense possibly damaging 0.64
R7519:Phtf1 UTSW 3 103,876,435 (GRCm39) missense probably damaging 1.00
R7601:Phtf1 UTSW 3 103,901,161 (GRCm39) missense probably benign 0.03
R7657:Phtf1 UTSW 3 103,876,429 (GRCm39) missense probably benign 0.00
R8354:Phtf1 UTSW 3 103,911,765 (GRCm39) missense probably damaging 1.00
R8454:Phtf1 UTSW 3 103,911,765 (GRCm39) missense probably damaging 1.00
R8669:Phtf1 UTSW 3 103,910,792 (GRCm39) missense probably benign 0.39
R9020:Phtf1 UTSW 3 103,898,694 (GRCm39) nonsense probably null
R9295:Phtf1 UTSW 3 103,904,893 (GRCm39) missense probably benign 0.00
R9682:Phtf1 UTSW 3 103,901,214 (GRCm39) missense possibly damaging 0.86
R9798:Phtf1 UTSW 3 103,904,869 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTCTGGATATTCCTGCTTCCAG -3'
(R):5'- TCAGCATCAAACAACTGTCATTTCG -3'

Sequencing Primer
(F):5'- CCAGTTTGCAGATATTTCCAGGAG -3'
(R):5'- CAACTGTCATTTCGTCAAATATGC -3'
Posted On 2015-03-18