Incidental Mutation 'R6776:Foxp1'
ID 531289
Institutional Source Beutler Lab
Gene Symbol Foxp1
Ensembl Gene ENSMUSG00000030067
Gene Name forkhead box P1
Synonyms 3110052D19Rik, 4932443N09Rik
MMRRC Submission 044892-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6776 (G1)
Quality Score 124.467
Status Not validated
Chromosome 6
Chromosomal Location 98902299-99499682 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG to TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG at 99052926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074346] [ENSMUST00000113322] [ENSMUST00000113324] [ENSMUST00000113326] [ENSMUST00000113328] [ENSMUST00000113329] [ENSMUST00000176565] [ENSMUST00000177208] [ENSMUST00000177307] [ENSMUST00000177230] [ENSMUST00000175886] [ENSMUST00000176632] [ENSMUST00000176850]
AlphaFold P58462
Predicted Effect probably benign
Transcript: ENSMUST00000074346
SMART Domains Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
coiled coil region 62 113 N/A INTRINSIC
low complexity region 140 191 N/A INTRINSIC
low complexity region 200 233 N/A INTRINSIC
low complexity region 236 250 N/A INTRINSIC
low complexity region 264 275 N/A INTRINSIC
low complexity region 317 330 N/A INTRINSIC
ZnF_C2H2 334 359 8.67e-1 SMART
low complexity region 371 383 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
FH 491 572 2.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113322
SMART Domains Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
coiled coil region 62 113 N/A INTRINSIC
low complexity region 140 191 N/A INTRINSIC
low complexity region 200 233 N/A INTRINSIC
low complexity region 236 250 N/A INTRINSIC
low complexity region 264 275 N/A INTRINSIC
low complexity region 317 330 N/A INTRINSIC
ZnF_C2H2 334 359 8.67e-1 SMART
low complexity region 371 383 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
FH 491 572 2.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113324
SMART Domains Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
coiled coil region 62 113 N/A INTRINSIC
low complexity region 140 192 N/A INTRINSIC
low complexity region 201 234 N/A INTRINSIC
low complexity region 237 251 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 318 331 N/A INTRINSIC
ZnF_C2H2 335 360 8.67e-1 SMART
low complexity region 372 384 N/A INTRINSIC
low complexity region 433 447 N/A INTRINSIC
FH 492 573 2.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113326
SMART Domains Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
low complexity region 108 159 N/A INTRINSIC
low complexity region 168 201 N/A INTRINSIC
low complexity region 204 218 N/A INTRINSIC
low complexity region 232 243 N/A INTRINSIC
low complexity region 285 298 N/A INTRINSIC
ZnF_C2H2 302 327 8.67e-1 SMART
low complexity region 339 351 N/A INTRINSIC
low complexity region 400 414 N/A INTRINSIC
FH 459 540 2.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113328
SMART Domains Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
coiled coil region 62 113 N/A INTRINSIC
low complexity region 140 191 N/A INTRINSIC
low complexity region 200 234 N/A INTRINSIC
low complexity region 237 251 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 318 331 N/A INTRINSIC
ZnF_C2H2 335 360 8.67e-1 SMART
low complexity region 372 384 N/A INTRINSIC
low complexity region 433 447 N/A INTRINSIC
FH 492 573 2.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113329
SMART Domains Protein: ENSMUSP00000108955
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
coiled coil region 62 113 N/A INTRINSIC
low complexity region 140 191 N/A INTRINSIC
low complexity region 200 233 N/A INTRINSIC
low complexity region 236 250 N/A INTRINSIC
low complexity region 264 275 N/A INTRINSIC
low complexity region 317 330 N/A INTRINSIC
ZnF_C2H2 334 359 8.67e-1 SMART
low complexity region 371 383 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
FH 491 579 1.76e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176565
SMART Domains Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
coiled coil region 62 113 N/A INTRINSIC
low complexity region 140 191 N/A INTRINSIC
low complexity region 200 234 N/A INTRINSIC
low complexity region 237 251 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 318 331 N/A INTRINSIC
ZnF_C2H2 335 360 8.67e-1 SMART
low complexity region 372 384 N/A INTRINSIC
low complexity region 433 447 N/A INTRINSIC
FH 491 572 2.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177208
SMART Domains Protein: ENSMUSP00000135187
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
coiled coil region 62 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177307
SMART Domains Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
coiled coil region 62 113 N/A INTRINSIC
low complexity region 140 192 N/A INTRINSIC
low complexity region 201 235 N/A INTRINSIC
low complexity region 238 252 N/A INTRINSIC
low complexity region 266 277 N/A INTRINSIC
low complexity region 319 332 N/A INTRINSIC
ZnF_C2H2 336 361 8.67e-1 SMART
low complexity region 373 385 N/A INTRINSIC
low complexity region 434 448 N/A INTRINSIC
FH 492 573 2.07e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200105
Predicted Effect probably benign
Transcript: ENSMUST00000177230
SMART Domains Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
low complexity region 108 160 N/A INTRINSIC
low complexity region 169 203 N/A INTRINSIC
low complexity region 206 220 N/A INTRINSIC
low complexity region 234 245 N/A INTRINSIC
low complexity region 287 300 N/A INTRINSIC
ZnF_C2H2 304 329 8.67e-1 SMART
low complexity region 341 353 N/A INTRINSIC
low complexity region 402 416 N/A INTRINSIC
FH 461 542 2.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175886
SMART Domains Protein: ENSMUSP00000135517
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
low complexity region 10 62 N/A INTRINSIC
low complexity region 71 105 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176632
SMART Domains Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
low complexity region 108 159 N/A INTRINSIC
low complexity region 168 202 N/A INTRINSIC
low complexity region 205 219 N/A INTRINSIC
low complexity region 233 244 N/A INTRINSIC
low complexity region 286 299 N/A INTRINSIC
ZnF_C2H2 303 328 8.67e-1 SMART
low complexity region 340 352 N/A INTRINSIC
low complexity region 401 415 N/A INTRINSIC
FH 460 541 2.07e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176850
SMART Domains Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
low complexity region 108 160 N/A INTRINSIC
low complexity region 169 203 N/A INTRINSIC
low complexity region 206 220 N/A INTRINSIC
low complexity region 234 245 N/A INTRINSIC
low complexity region 287 300 N/A INTRINSIC
ZnF_C2H2 304 329 8.67e-1 SMART
low complexity region 341 353 N/A INTRINSIC
low complexity region 402 416 N/A INTRINSIC
FH 461 542 2.07e-39 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal outflow tract septation, ventricular septal defects, abnormal cardiac valve morphology, decreased and irregular heart rate, thin ventricular compact zone, and edema. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 A G 8: 10,038,075 (GRCm39) H224R probably benign Het
Anapc10 T C 8: 80,446,374 (GRCm39) F68S probably damaging Het
Arid2 A G 15: 96,268,830 (GRCm39) N981S probably benign Het
Bmerb1 T A 16: 13,804,670 (GRCm39) S6T possibly damaging Het
Cfap73 A G 5: 120,772,276 (GRCm39) F9L probably damaging Het
Chd3 A C 11: 69,245,296 (GRCm39) L1141V probably damaging Het
Daam1 C T 12: 72,036,582 (GRCm39) L1052F possibly damaging Het
Dmxl1 C T 18: 50,027,041 (GRCm39) R2050C probably damaging Het
Dpp10 G A 1: 123,295,385 (GRCm39) Q552* probably null Het
Dysf A G 6: 84,041,876 (GRCm39) D160G possibly damaging Het
Ecrg4 C A 1: 43,781,551 (GRCm39) N144K probably damaging Het
Firrm T C 1: 163,804,318 (GRCm39) I338M probably damaging Het
Ftcd T C 10: 76,425,073 (GRCm39) I518T probably benign Het
Gapdh A G 6: 125,139,236 (GRCm39) S248P probably damaging Het
Gm5592 C G 7: 40,939,153 (GRCm39) P812A probably damaging Het
Grik2 G A 10: 49,232,085 (GRCm39) L482F probably damaging Het
Gzmg C T 14: 56,394,288 (GRCm39) G202D probably damaging Het
Hectd4 G A 5: 121,491,574 (GRCm39) A3671T possibly damaging Het
Hexa G T 9: 59,465,355 (GRCm39) W203C probably damaging Het
Igdcc4 A T 9: 65,042,700 (GRCm39) T1217S probably benign Het
Ipo7 A G 7: 109,646,272 (GRCm39) D557G probably damaging Het
Irx3 T A 8: 92,526,463 (GRCm39) T414S probably benign Het
Jakmip1 G A 5: 37,344,498 (GRCm39) E1313K probably damaging Het
Kbtbd12 T C 6: 88,595,248 (GRCm39) D194G probably damaging Het
Klk6 T C 7: 43,476,298 (GRCm39) L46P probably damaging Het
Krt86 T C 15: 101,374,817 (GRCm39) I329T probably benign Het
Mroh5 A G 15: 73,661,817 (GRCm39) probably null Het
Mtrf1 T C 14: 79,650,521 (GRCm39) V323A probably damaging Het
Oas3 A T 5: 120,896,939 (GRCm39) I894N probably damaging Het
Oplah C T 15: 76,185,053 (GRCm39) V887I possibly damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pcnx1 C T 12: 82,009,496 (GRCm39) A1181V possibly damaging Het
Pkdrej G T 15: 85,701,510 (GRCm39) Y1475* probably null Het
Pla2g5 A G 4: 138,527,964 (GRCm39) S101P probably benign Het
Plekha4 C A 7: 45,184,241 (GRCm39) A76E probably damaging Het
Plk2 T C 13: 110,536,325 (GRCm39) I592T probably benign Het
Ppp2r3c T A 12: 55,345,252 (GRCm39) R79* probably null Het
Ppp2r3d A T 9: 101,090,061 (GRCm39) H87Q probably benign Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prrt4 G T 6: 29,176,551 (GRCm39) T258K possibly damaging Het
Rhpn2 T A 7: 35,083,194 (GRCm39) probably null Het
Slc11a1 T A 1: 74,423,244 (GRCm39) I365N probably damaging Het
Slc7a7 C T 14: 54,612,108 (GRCm39) G265D possibly damaging Het
Thsd7a T A 6: 12,555,636 (GRCm39) T83S possibly damaging Het
Tln2 A G 9: 67,170,187 (GRCm39) S1989P probably damaging Het
Tnfaip3 T G 10: 18,881,324 (GRCm39) T321P probably benign Het
Tnrc6b C T 15: 80,808,320 (GRCm39) P1623L possibly damaging Het
Trpa1 T C 1: 14,982,601 (GRCm39) N85S probably benign Het
Trrap C T 5: 144,788,066 (GRCm39) R3544* probably null Het
Ttf2 A T 3: 100,859,869 (GRCm39) V695E probably benign Het
Ttll4 A G 1: 74,720,512 (GRCm39) E509G probably damaging Het
Vdr T C 15: 97,767,709 (GRCm39) I94V probably damaging Het
Wdfy3 G T 5: 102,031,911 (GRCm39) Q2304K possibly damaging Het
Zfp663 T C 2: 165,200,935 (GRCm39) Y33C probably damaging Het
Other mutations in Foxp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02191:Foxp1 APN 6 98,922,561 (GRCm39) missense probably damaging 0.99
IGL02330:Foxp1 APN 6 98,922,373 (GRCm39) missense probably damaging 1.00
IGL02869:Foxp1 APN 6 98,907,044 (GRCm39) utr 3 prime probably benign
IGL02968:Foxp1 APN 6 99,052,822 (GRCm39) missense probably damaging 1.00
Foxy UTSW 6 98,992,471 (GRCm39) nonsense probably null
Moxie UTSW 6 98,992,475 (GRCm39) critical splice acceptor site probably null
Roxie UTSW 6 98,918,595 (GRCm39) missense unknown
R0037:Foxp1 UTSW 6 99,139,930 (GRCm39) missense probably damaging 1.00
R0063:Foxp1 UTSW 6 98,921,684 (GRCm39) splice site probably benign
R0063:Foxp1 UTSW 6 98,921,684 (GRCm39) splice site probably benign
R0427:Foxp1 UTSW 6 98,907,164 (GRCm39) missense probably damaging 1.00
R0601:Foxp1 UTSW 6 98,907,083 (GRCm39) missense probably damaging 1.00
R1356:Foxp1 UTSW 6 98,993,637 (GRCm39) splice site probably benign
R1468:Foxp1 UTSW 6 98,955,181 (GRCm39) missense possibly damaging 0.62
R1468:Foxp1 UTSW 6 98,955,181 (GRCm39) missense possibly damaging 0.62
R1548:Foxp1 UTSW 6 98,922,381 (GRCm39) missense probably damaging 1.00
R1696:Foxp1 UTSW 6 98,922,663 (GRCm39) missense probably benign 0.18
R1933:Foxp1 UTSW 6 99,052,926 (GRCm39) small deletion probably benign
R2152:Foxp1 UTSW 6 98,993,502 (GRCm39) missense probably damaging 0.99
R2338:Foxp1 UTSW 6 98,980,254 (GRCm39) missense possibly damaging 0.61
R3896:Foxp1 UTSW 6 99,052,897 (GRCm39) missense probably benign 0.33
R5006:Foxp1 UTSW 6 99,139,819 (GRCm39) missense probably damaging 0.98
R5143:Foxp1 UTSW 6 98,922,493 (GRCm39) critical splice donor site probably null
R5428:Foxp1 UTSW 6 98,993,592 (GRCm39) missense probably damaging 1.00
R5765:Foxp1 UTSW 6 98,992,423 (GRCm39) missense probably damaging 0.99
R5816:Foxp1 UTSW 6 99,052,926 (GRCm39) small deletion probably benign
R6172:Foxp1 UTSW 6 98,992,475 (GRCm39) critical splice acceptor site probably null
R6172:Foxp1 UTSW 6 98,992,471 (GRCm39) nonsense probably null
R6173:Foxp1 UTSW 6 98,992,475 (GRCm39) critical splice acceptor site probably null
R6173:Foxp1 UTSW 6 98,992,471 (GRCm39) nonsense probably null
R6175:Foxp1 UTSW 6 98,943,037 (GRCm39) missense probably damaging 1.00
R6782:Foxp1 UTSW 6 98,907,106 (GRCm39) missense probably damaging 1.00
R7229:Foxp1 UTSW 6 98,912,373 (GRCm39) missense unknown
R7559:Foxp1 UTSW 6 98,922,521 (GRCm39) missense unknown
R7715:Foxp1 UTSW 6 98,922,621 (GRCm39) missense unknown
R8007:Foxp1 UTSW 6 98,918,595 (GRCm39) missense unknown
R8099:Foxp1 UTSW 6 98,922,510 (GRCm39) missense unknown
R8317:Foxp1 UTSW 6 99,052,866 (GRCm39) small deletion probably benign
R8408:Foxp1 UTSW 6 98,922,543 (GRCm39) missense unknown
R8704:Foxp1 UTSW 6 98,993,507 (GRCm39) missense unknown
R8705:Foxp1 UTSW 6 98,993,507 (GRCm39) missense unknown
R9014:Foxp1 UTSW 6 99,052,866 (GRCm39) small deletion probably benign
R9147:Foxp1 UTSW 6 99,052,866 (GRCm39) small deletion probably benign
R9399:Foxp1 UTSW 6 99,052,866 (GRCm39) small deletion probably benign
R9604:Foxp1 UTSW 6 99,052,926 (GRCm39) small deletion probably benign
X0066:Foxp1 UTSW 6 99,052,976 (GRCm39) nonsense probably null
Z1177:Foxp1 UTSW 6 98,955,122 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTTCTGCAAGGCTTCTCAGC -3'
(R):5'- CTGTGGACTGGCAAGAAGATTTG -3'

Sequencing Primer
(F):5'- CTTCTCAGCCACATGAAGGGTATG -3'
(R):5'- CAAGAAGATTTGCTTGCCATTTC -3'
Posted On 2018-08-29