Incidental Mutation 'R4210:Phtf1'
ID 319111
Institutional Source Beutler Lab
Gene Symbol Phtf1
Ensembl Gene ENSMUSG00000058388
Gene Name putative homeodomain transcription factor 1
Synonyms Phft
MMRRC Submission 041039-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4210 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 103875426-103914806 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 103910919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055425] [ENSMUST00000055425] [ENSMUST00000063717] [ENSMUST00000090685] [ENSMUST00000090685] [ENSMUST00000117150] [ENSMUST00000145727]
AlphaFold Q9QZ09
Predicted Effect probably null
Transcript: ENSMUST00000055425
SMART Domains Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388

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 null
Transcript: ENSMUST00000055425
SMART Domains Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388

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 null
Transcript: ENSMUST00000063717
SMART Domains Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388

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 null
Transcript: ENSMUST00000090685
SMART Domains Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388

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 null
Transcript: ENSMUST00000090685
SMART Domains Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388

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 null
Transcript: ENSMUST00000117150
SMART Domains Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388

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: ENSMUST00000145727
SMART Domains Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,490,222 (GRCm39) probably benign Het
Abl1 T C 2: 31,691,708 (GRCm39) Y1076H probably damaging Het
Adamts7 C T 9: 90,076,063 (GRCm39) T1265I possibly damaging Het
Adgb T C 10: 10,283,209 (GRCm39) I166V probably benign Het
Axin2 T A 11: 108,833,402 (GRCm39) I529N possibly damaging Het
Bbof1 T C 12: 84,455,957 (GRCm39) M1T probably null Het
Clcc1 A T 3: 108,570,907 (GRCm39) Y105F possibly damaging Het
Cmpk2 G T 12: 26,519,570 (GRCm39) A74S probably benign Het
Colgalt1 G A 8: 72,075,350 (GRCm39) V419I probably benign Het
Crybg3 A G 16: 59,364,414 (GRCm39) S2403P probably damaging Het
D930048N14Rik G A 11: 51,545,632 (GRCm39) probably benign Het
Dnah7b T A 1: 46,176,578 (GRCm39) C733S possibly damaging Het
Drc1 G A 5: 30,504,490 (GRCm39) V211M possibly damaging Het
Ephx2 T C 14: 66,322,393 (GRCm39) T525A probably damaging Het
Eya4 A G 10: 23,102,698 (GRCm39) probably null Het
Foxc1 T C 13: 31,991,690 (GRCm39) F167S probably damaging Het
Fsip2 C T 2: 82,805,493 (GRCm39) T604I probably damaging Het
Gm6370 C A 5: 146,430,734 (GRCm39) F306L possibly damaging Het
Hmgcr A G 13: 96,796,729 (GRCm39) V187A probably damaging Het
Igkv9-129 T A 6: 67,817,242 (GRCm39) S114R possibly damaging Het
Ikbke T A 1: 131,191,085 (GRCm39) I519F probably damaging Het
Ikzf3 T C 11: 98,381,313 (GRCm39) Y89C probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Iqsec3 T C 6: 121,389,999 (GRCm39) probably benign Het
Itga3 C A 11: 94,953,449 (GRCm39) V298L probably benign Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Larp7 T A 3: 127,340,603 (GRCm39) R112S probably benign Het
Lbh T A 17: 73,228,178 (GRCm39) probably null Het
Lrba G A 3: 86,267,433 (GRCm39) G1708S probably damaging Het
Lrig2 C T 3: 104,374,620 (GRCm39) V154I probably benign Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mast4 A T 13: 102,875,713 (GRCm39) F1318L probably damaging Het
Ncam2 T C 16: 81,323,991 (GRCm39) V545A probably benign Het
Numa1 T G 7: 101,658,945 (GRCm39) L356R probably damaging Het
Or2w1 A T 13: 21,317,607 (GRCm39) I221L possibly damaging Het
Or6n2 G A 1: 173,897,574 (GRCm39) A237T probably damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Pdlim4 T G 11: 53,946,744 (GRCm39) D181A possibly damaging Het
Pik3r4 G A 9: 105,527,957 (GRCm39) A437T possibly damaging Het
Proser3 G A 7: 30,245,525 (GRCm39) probably benign Het
Rax T A 18: 66,068,152 (GRCm39) N318Y unknown Het
Rnf152 A G 1: 105,212,077 (GRCm39) V160A probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Sidt2 T C 9: 45,854,073 (GRCm39) T652A probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Sspo C A 6: 48,441,835 (GRCm39) H1948Q probably benign Het
Stap2 G T 17: 56,304,827 (GRCm39) Y318* probably null Het
Sytl1 T C 4: 132,980,876 (GRCm39) D421G probably damaging Het
Taar7e A T 10: 23,913,932 (GRCm39) I141F probably damaging Het
Taar7f T A 10: 23,925,921 (GRCm39) W172R probably damaging Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tenm3 C T 8: 48,802,439 (GRCm39) G374D probably damaging Het
Terf2 A G 8: 107,806,080 (GRCm39) S291P probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmod4 A G 3: 95,035,140 (GRCm39) D215G probably benign Het
Tnxb T C 17: 34,929,951 (GRCm39) I2895T possibly damaging Het
Tsbp1 G T 17: 34,679,257 (GRCm39) probably benign Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Uxs1 T A 1: 43,789,398 (GRCm39) H419L possibly damaging Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Vmn1r79 A G 7: 11,910,415 (GRCm39) Y99C possibly damaging Het
Zc3h14 A G 12: 98,751,658 (GRCm39) H199R probably damaging Het
Zfand2b A T 1: 75,146,454 (GRCm39) M110L probably benign Het
Zfp976 A G 7: 42,265,749 (GRCm39) F12S 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
R3731: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
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'- TCAGCTCTTGTCCTTTGAGG -3'
(R):5'- TAGCAAAGTACTCTCAACCCATTAG -3'

Sequencing Primer
(F):5'- CCTTTGAGGAAACTGTAGATTGC -3'
(R):5'- AACCCATTAGCTCATTCTCCCAG -3'
Posted On 2015-06-10