Incidental Mutation 'R9014:Foxp1'
ID 685832
Institutional Source Beutler Lab
Gene Symbol Foxp1
Ensembl Gene ENSMUSG00000030067
Gene Name forkhead box P1
Synonyms 3110052D19Rik, 4932443N09Rik
MMRRC Submission 068844-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9014 (G1)
Quality Score 129.467
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) TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG to TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG at 99052866 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] [ENSMUST00000175886] [ENSMUST00000176565] [ENSMUST00000176632] [ENSMUST00000176850] [ENSMUST00000177208] [ENSMUST00000177230] [ENSMUST00000177307]
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: 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: 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: 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
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: 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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,798,857 (GRCm39) N746S probably benign Het
Ahnak2 T C 12: 112,740,170 (GRCm39) T1301A possibly damaging Het
Akap6 T A 12: 53,186,403 (GRCm39) N1272K possibly damaging Het
Apc G T 18: 34,354,074 (GRCm39) probably benign Het
Arap1 A G 7: 101,053,540 (GRCm39) S1290G probably damaging Het
Arhgef25 T C 10: 127,019,607 (GRCm39) Y483C probably damaging Het
Arpp21 G T 9: 112,006,796 (GRCm39) Q138K probably damaging Het
Bahcc1 C T 11: 120,163,715 (GRCm39) A671V probably benign Het
Bahcc1 T C 11: 120,173,048 (GRCm39) S1557P probably benign Het
Bltp2 T C 11: 78,160,488 (GRCm39) L649P possibly damaging Het
Brca2 C A 5: 150,465,219 (GRCm39) T1661K probably benign Het
Casq1 T A 1: 172,038,064 (GRCm39) S356C probably damaging Het
Catsperg1 T C 7: 28,906,066 (GRCm39) Y171C probably damaging Het
Ccdc88c G C 12: 100,879,323 (GRCm39) Q1926E probably benign Het
Cdc42bpg T A 19: 6,372,289 (GRCm39) M1425K possibly damaging Het
Chac2 C T 11: 30,936,158 (GRCm39) R30Q probably damaging Het
Clca3a1 T C 3: 144,442,731 (GRCm39) D771G probably benign Het
Cyp26c1 T C 19: 37,675,844 (GRCm39) probably null Het
Dcaf8 T C 1: 172,007,530 (GRCm39) V333A possibly damaging Het
Dennd4c G A 4: 86,739,702 (GRCm39) S997N probably benign Het
Dennd4c A C 4: 86,754,666 (GRCm39) I1559L probably benign Het
Dgcr8 T G 16: 18,077,514 (GRCm39) H632P possibly damaging Het
Dhx16 C A 17: 36,193,490 (GRCm39) R278S probably benign Het
Dsel A T 1: 111,788,509 (GRCm39) Y675* probably null Het
Dsp T C 13: 38,376,700 (GRCm39) I1495T possibly damaging Het
Fam227a T A 15: 79,504,958 (GRCm39) N495I possibly damaging Het
Fcgbpl1 A G 7: 27,854,876 (GRCm39) E1834G probably damaging Het
Focad T A 4: 88,275,763 (GRCm39) M1124K unknown Het
Foxi3 A G 6: 70,937,815 (GRCm39) H349R probably damaging Het
Fsip2 C A 2: 82,806,898 (GRCm39) D1072E probably benign Het
Fsip2 T G 2: 82,817,075 (GRCm39) H4269Q possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gm49383 A C 12: 69,243,425 (GRCm39) Y151* probably null Het
Ighv1-26 T A 12: 114,752,033 (GRCm39) S104C probably damaging Het
Kat6a A G 8: 23,430,087 (GRCm39) N1814S unknown Het
Kif18a T A 2: 109,123,414 (GRCm39) H229Q probably damaging Het
Klk1b4 C T 7: 43,859,098 (GRCm39) R39C probably benign Het
Lgr6 T C 1: 134,931,248 (GRCm39) I269V probably damaging Het
Lrtm2 A G 6: 119,294,219 (GRCm39) V304A probably damaging Het
Lsm8 A G 6: 18,853,632 (GRCm39) D78G possibly damaging Het
Mroh2b T C 15: 4,928,670 (GRCm39) M1T probably null Het
Ms4a14 T C 19: 11,278,871 (GRCm39) E1229G possibly damaging Het
Nbeal1 G A 1: 60,329,118 (GRCm39) D2179N probably damaging Het
Nfix G A 8: 85,448,405 (GRCm39) T366M possibly damaging Het
Or12j4 A T 7: 140,045,883 (GRCm39) probably benign Het
Or56b1b A G 7: 108,164,882 (GRCm39) L40P possibly damaging Het
Or8b49 T C 9: 38,506,123 (GRCm39) V202A probably damaging Het
Or8h9 T A 2: 86,789,035 (GRCm39) I256F probably benign Het
Pear1 T C 3: 87,658,479 (GRCm39) Q964R probably benign Het
Pgk2 T G 17: 40,518,687 (GRCm39) E247A probably benign Het
Ppfia2 C T 10: 106,763,666 (GRCm39) P1220S probably benign Het
Ppp1r1b T C 11: 98,241,449 (GRCm39) S46P probably damaging Het
Ppp2ca C A 11: 52,009,510 (GRCm39) H167Q probably damaging Het
Scel A T 14: 103,822,575 (GRCm39) R396S probably benign Het
Siae T C 9: 37,557,639 (GRCm39) V482A possibly damaging Het
Skint2 A G 4: 112,483,026 (GRCm39) M144V probably benign Het
Slc23a3 A G 1: 75,109,274 (GRCm39) F219L probably benign Het
Slc4a4 G T 5: 89,280,245 (GRCm39) A348S probably damaging Het
Spin1 G T 13: 51,282,010 (GRCm39) probably null Het
Tab2 G A 10: 7,794,920 (GRCm39) R521W probably damaging Het
Tas2r118 G A 6: 23,970,049 (GRCm39) T4M probably benign Het
Tet2 T A 3: 133,172,949 (GRCm39) D1771V probably damaging Het
Tmprss15 T C 16: 78,872,691 (GRCm39) T172A probably benign Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Txnrd3 A G 6: 89,631,091 (GRCm39) Y129C probably damaging Het
Ulk4 A G 9: 121,017,294 (GRCm39) I728T probably benign Het
Vmn1r44 G A 6: 89,870,997 (GRCm39) V248M possibly damaging Het
Wdr64 A G 1: 175,526,395 (GRCm39) I15V probably benign Het
Zdhhc17 T C 10: 110,785,544 (GRCm39) T423A probably benign Het
Zfp619 T C 7: 39,187,246 (GRCm39) I1092T probably benign Het
Zfp729b A T 13: 67,740,274 (GRCm39) Y664N 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
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
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'- GCATGCTGGATTCTTCCCAAC -3'
(R):5'- TCTCCAGACCTGTGTGATAATG -3'

Sequencing Primer
(F):5'- GAAACTTCTGGTCAAAGAGACTTTTC -3'
(R):5'- CTCCAGACCTGTGTGATAATGAAATC -3'
Posted On 2021-10-11