Incidental Mutation 'R1548:Foxp1'
ID 172323
Institutional Source Beutler Lab
Gene Symbol Foxp1
Ensembl Gene ENSMUSG00000030067
Gene Name forkhead box P1
Synonyms 3110052D19Rik, 4932443N09Rik
MMRRC Submission 039587-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1548 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 98902299-99499682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98922381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 450 (I450N)
Ref Sequence ENSEMBL: ENSMUSP00000135098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074346] [ENSMUST00000113322] [ENSMUST00000113324] [ENSMUST00000113326] [ENSMUST00000113328] [ENSMUST00000113329] [ENSMUST00000124058] [ENSMUST00000177307] [ENSMUST00000177229] [ENSMUST00000176632] [ENSMUST00000177437] [ENSMUST00000176565] [ENSMUST00000177230] [ENSMUST00000176850]
AlphaFold P58462
Predicted Effect possibly damaging
Transcript: ENSMUST00000074346
AA Change: I480N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067
AA Change: I480N

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 possibly damaging
Transcript: ENSMUST00000113322
AA Change: I480N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067
AA Change: I480N

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 possibly damaging
Transcript: ENSMUST00000113324
AA Change: I481N

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067
AA Change: I481N

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 unknown
Transcript: ENSMUST00000113326
AA Change: I448N
SMART Domains Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067
AA Change: I448N

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 damaging
Transcript: ENSMUST00000113328
AA Change: I481N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067
AA Change: I481N

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: I480N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108955
Gene: ENSMUSG00000030067
AA Change: I480N

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: ENSMUST00000124058
SMART Domains Protein: ENSMUSP00000120244
Gene: ENSMUSG00000030067

DomainStartEndE-ValueType
low complexity region 10 62 N/A INTRINSIC
low complexity region 71 104 N/A INTRINSIC
low complexity region 107 121 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
low complexity region 188 201 N/A INTRINSIC
ZnF_C2H2 205 230 8.67e-1 SMART
low complexity region 242 254 N/A INTRINSIC
low complexity region 303 317 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000177307
AA Change: I481N
SMART Domains Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067
AA Change: I481N

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: ENSMUST00000177229
AA Change: I352N

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134817
Gene: ENSMUSG00000030067
AA Change: I352N

DomainStartEndE-ValueType
low complexity region 10 62 N/A INTRINSIC
low complexity region 71 105 N/A INTRINSIC
low complexity region 108 122 N/A INTRINSIC
low complexity region 136 147 N/A INTRINSIC
low complexity region 189 202 N/A INTRINSIC
ZnF_C2H2 206 231 8.67e-1 SMART
low complexity region 243 255 N/A INTRINSIC
low complexity region 304 318 N/A INTRINSIC
FH 363 444 2.07e-39 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176632
AA Change: I449N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067
AA Change: I449N

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: ENSMUST00000177437
AA Change: I351N

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135809
Gene: ENSMUSG00000030067
AA Change: I351N

DomainStartEndE-ValueType
low complexity region 10 61 N/A INTRINSIC
low complexity region 70 104 N/A INTRINSIC
low complexity region 107 121 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
low complexity region 188 201 N/A INTRINSIC
ZnF_C2H2 205 230 8.67e-1 SMART
low complexity region 242 254 N/A INTRINSIC
low complexity region 303 317 N/A INTRINSIC
FH 362 443 2.07e-39 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176565
AA Change: I480N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067
AA Change: I480N

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: ENSMUST00000177230
AA Change: I450N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067
AA Change: I450N

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: I450N

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067
AA Change: I450N

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
Meta Mutation Damage Score 0.1362 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (69/70)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,588,818 (GRCm39) R78S probably damaging Het
Acad10 G C 5: 121,764,104 (GRCm39) probably benign Het
Acad10 G T 5: 121,764,103 (GRCm39) probably benign Het
Ang2 C A 14: 51,432,990 (GRCm39) E131* probably null Het
Ankfn1 T C 11: 89,417,367 (GRCm39) N82D probably damaging Het
Anks1b T C 10: 89,885,847 (GRCm39) I181T possibly damaging Het
Bcl2l12 C G 7: 44,642,242 (GRCm39) G215R probably damaging Het
Bnc2 A G 4: 84,194,194 (GRCm39) Y1044H probably damaging Het
Cacna1s T C 1: 136,038,675 (GRCm39) F1172S probably damaging Het
Cct8 A G 16: 87,282,472 (GRCm39) I482T probably damaging Het
Cfap74 C T 4: 155,518,502 (GRCm39) T580I probably benign Het
Cib1 A T 7: 79,878,162 (GRCm39) Y105* probably null Het
Cpa1 G A 6: 30,642,334 (GRCm39) G245D probably damaging Het
Csmd3 A G 15: 47,845,371 (GRCm39) V801A possibly damaging Het
Ddx10 T C 9: 53,060,861 (GRCm39) probably null Het
Ddx4 T C 13: 112,736,531 (GRCm39) N613S probably damaging Het
Drd3 A G 16: 43,641,704 (GRCm39) D340G probably benign Het
E2f4 A G 8: 106,031,320 (GRCm39) *411W probably null Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Ftdc1 A T 16: 58,436,202 (GRCm39) D40E probably benign Het
Gpr19 A G 6: 134,847,047 (GRCm39) F175S possibly damaging Het
Gpr21 C T 2: 37,408,084 (GRCm39) T210M probably damaging Het
Grhl2 C T 15: 37,336,567 (GRCm39) A488V probably benign Het
Hif3a T C 7: 16,778,328 (GRCm39) T435A probably benign Het
Hoxb4 C T 11: 96,209,725 (GRCm39) R44* probably null Het
Ifi47 A G 11: 48,986,698 (GRCm39) D155G probably damaging Het
Igdcc4 T C 9: 65,042,509 (GRCm39) L142P probably benign Het
Ints6 G A 14: 62,951,141 (GRCm39) P296L probably damaging Het
Itga3 A G 11: 94,937,745 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Krtap20-1 G A 16: 88,812,277 (GRCm39) probably benign Het
Lgals12 A T 19: 7,581,677 (GRCm39) H50Q probably benign Het
Lrp12 A G 15: 39,735,902 (GRCm39) S696P probably damaging Het
Lrp6 G A 6: 134,436,392 (GRCm39) T1258I possibly damaging Het
Meis2 C T 2: 115,889,183 (GRCm39) D190N probably damaging Het
Mir100hg T C 9: 41,492,672 (GRCm39) L116P probably damaging Het
Mon2 C T 10: 122,871,912 (GRCm39) probably benign Het
Muc6 A G 7: 141,238,368 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myo15a A G 11: 60,379,064 (GRCm39) H1394R probably damaging Het
Myo5a A T 9: 75,079,028 (GRCm39) I929F probably damaging Het
Nek6 T A 2: 38,458,907 (GRCm39) Y141N probably damaging Het
Notch4 T A 17: 34,787,396 (GRCm39) C319S probably damaging Het
Nwd2 A T 5: 63,957,525 (GRCm39) D285V probably benign Het
Olfml1 T C 7: 107,189,582 (GRCm39) S216P possibly damaging Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Pfkfb2 G T 1: 130,625,820 (GRCm39) H453Q probably benign Het
Pigt C T 2: 164,343,439 (GRCm39) T305I probably benign Het
Plxnb1 C T 9: 108,929,968 (GRCm39) L275F possibly damaging Het
Ppm1d C T 11: 85,230,431 (GRCm39) R350C probably damaging Het
Prss1l G T 6: 41,372,945 (GRCm39) L72F probably damaging Het
Rassf1 C A 9: 107,429,045 (GRCm39) P84T probably benign Het
Rgl3 G T 9: 21,892,002 (GRCm39) R361S probably benign Het
Rnf213 G A 11: 119,333,533 (GRCm39) R2914H probably damaging Het
Ryr2 A T 13: 11,569,435 (GRCm39) C4956* probably null Het
Scaper C T 9: 55,723,954 (GRCm39) R668H probably damaging Het
Spata6 T C 4: 111,636,203 (GRCm39) F165L probably benign Het
Tcirg1 A T 19: 3,946,845 (GRCm39) W694R probably benign Het
Tmem245 A T 4: 56,906,233 (GRCm39) Y160* probably null Het
Tshr T C 12: 91,500,805 (GRCm39) Y279H probably damaging Het
Ttf1 A C 2: 28,955,150 (GRCm39) K171N probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Xdh A G 17: 74,220,896 (GRCm39) V611A probably damaging Het
Zfp142 G T 1: 74,609,263 (GRCm39) H1408N 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
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
Predicted Primers PCR Primer
(F):5'- AGCAAACTCCTCAGGCAGGTTTC -3'
(R):5'- AGGCGGTACTCAGACAAATACAACG -3'

Sequencing Primer
(F):5'- GCTCAGATTAATTCCAGGGATCAG -3'
(R):5'- AATACAACGTGCCCATTTCTTCAG -3'
Posted On 2014-04-13