Incidental Mutation 'R0037:Foxp1'
ID 15626
Institutional Source Beutler Lab
Gene Symbol Foxp1
Ensembl Gene ENSMUSG00000030067
Gene Name forkhead box P1
Synonyms 3110052D19Rik, 4932443N09Rik
MMRRC Submission 038331-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0037 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 98902299-99499682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99139930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 17 (Q17L)
Ref Sequence ENSEMBL: ENSMUSP00000108952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074346] [ENSMUST00000113322] [ENSMUST00000113324] [ENSMUST00000113326] [ENSMUST00000113328] [ENSMUST00000113329] [ENSMUST00000177307] [ENSMUST00000177227] [ENSMUST00000176632] [ENSMUST00000176565] [ENSMUST00000177208] [ENSMUST00000177230] [ENSMUST00000176850]
AlphaFold P58462
Predicted Effect possibly damaging
Transcript: ENSMUST00000074346
AA Change: Q17L

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067
AA Change: Q17L

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 noncoding transcript
Transcript: ENSMUST00000075832
Predicted Effect possibly damaging
Transcript: ENSMUST00000113322
AA Change: Q17L

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067
AA Change: Q17L

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
AA Change: Q17L

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067
AA Change: Q17L

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 damaging
Transcript: ENSMUST00000113326
AA Change: Q17L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067
AA Change: Q17L

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
AA Change: Q17L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067
AA Change: Q17L

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 possibly damaging
Transcript: ENSMUST00000113329
AA Change: Q17L

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108955
Gene: ENSMUSG00000030067
AA Change: Q17L

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 possibly damaging
Transcript: ENSMUST00000177307
AA Change: Q17L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067
AA Change: Q17L

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 possibly damaging
Transcript: ENSMUST00000177227
AA Change: Q17L

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000176632
AA Change: Q17L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067
AA Change: Q17L

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 possibly damaging
Transcript: ENSMUST00000176565
AA Change: Q17L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067
AA Change: Q17L

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 damaging
Transcript: ENSMUST00000177208
AA Change: Q17L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135187
Gene: ENSMUSG00000030067
AA Change: Q17L

DomainStartEndE-ValueType
coiled coil region 62 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177230
AA Change: Q17L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067
AA Change: Q17L

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: ENSMUST00000176850
AA Change: Q17L

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067
AA Change: Q17L

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 noncoding transcript
Transcript: ENSMUST00000138754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131967
Meta Mutation Damage Score 0.1708 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 73.9%
  • 10x: 52.8%
  • 20x: 32.9%
Validation Efficiency 94% (83/88)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,769,891 (GRCm39) R330Q possibly damaging Het
Amph A T 13: 19,284,823 (GRCm39) S250C possibly damaging Het
Ankrd61 T C 5: 143,831,795 (GRCm39) N3S probably damaging Het
Camsap2 C T 1: 136,209,630 (GRCm39) E621K probably damaging Het
Cpt2 A G 4: 107,765,171 (GRCm39) S152P probably damaging Het
Csmd1 T A 8: 15,967,248 (GRCm39) Q3205L probably damaging Het
Dag1 G T 9: 108,084,552 (GRCm39) P863Q probably damaging Het
Dclk1 A G 3: 55,163,480 (GRCm39) I191V probably benign Het
Ddhd1 A G 14: 45,847,967 (GRCm39) L567P probably damaging Het
Enox1 T C 14: 77,936,750 (GRCm39) probably benign Het
Exoc3 T C 13: 74,347,658 (GRCm39) E104G probably damaging Het
Fscn1 A G 5: 142,956,449 (GRCm39) probably benign Het
Fut8 T C 12: 77,411,811 (GRCm39) V91A probably benign Het
Gm5475 T A 15: 100,322,083 (GRCm39) Y77* probably null Het
Gm5800 T C 14: 51,953,605 (GRCm39) probably benign Het
Hs2st1 T A 3: 144,143,405 (GRCm39) K213* probably null Het
Il5ra T A 6: 106,719,647 (GRCm39) Y62F probably damaging Het
Inpp5d A G 1: 87,635,851 (GRCm39) E734G probably damaging Het
Insig2 A T 1: 121,234,649 (GRCm39) C194S probably damaging Het
Lemd3 A C 10: 120,761,361 (GRCm39) H898Q possibly damaging Het
Lrp4 A G 2: 91,301,548 (GRCm39) T43A probably benign Het
Mast3 C T 8: 71,236,343 (GRCm39) probably null Het
Melk T C 4: 44,360,864 (GRCm39) probably benign Het
Myo10 C T 15: 25,666,618 (GRCm39) probably benign Het
Nlrc5 G A 8: 95,216,163 (GRCm39) V967M probably benign Het
Nlrp9b T A 7: 19,757,647 (GRCm39) F295I probably damaging Het
Phf3 A T 1: 30,843,999 (GRCm39) D1653E probably benign Het
Ppfia4 A T 1: 134,251,827 (GRCm39) L449Q probably damaging Het
Ppp1r16b T A 2: 158,599,129 (GRCm39) I367N probably damaging Het
Ralgapb T C 2: 158,279,331 (GRCm39) L139S probably damaging Het
Slc20a1 T C 2: 129,052,692 (GRCm39) V658A probably damaging Het
Son C A 16: 91,461,616 (GRCm39) A347E probably damaging Het
Tprg1l C A 4: 154,244,594 (GRCm39) V134L possibly damaging Het
Trim24 A T 6: 37,934,484 (GRCm39) N733I probably damaging Het
Uggt1 A T 1: 36,225,013 (GRCm39) D540E probably benign Het
Urb2 T A 8: 124,773,934 (GRCm39) F1488L probably damaging Het
Utp20 T C 10: 88,634,266 (GRCm39) D810G probably benign Het
Zfp473 T A 7: 44,383,324 (GRCm39) K335N 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
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
R6776:Foxp1 UTSW 6 99,052,926 (GRCm39) small deletion probably benign
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
Posted On 2012-12-21