Incidental Mutation 'R1933:Foxp1'
ID 215558
Institutional Source Beutler Lab
Gene Symbol Foxp1
Ensembl Gene ENSMUSG00000030067
Gene Name forkhead box P1
Synonyms 3110052D19Rik, 4932443N09Rik
MMRRC Submission 039951-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1933 (G1)
Quality Score 150
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] [ENSMUST00000175886] [ENSMUST00000176565] [ENSMUST00000177208] [ENSMUST00000177307] [ENSMUST00000177230] [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: 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: 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: 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: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adra2a T A 19: 54,034,837 (GRCm39) F64L probably damaging Het
Ankrd45 A T 1: 160,978,870 (GRCm39) N103I probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bsn A G 9: 107,993,643 (GRCm39) V703A possibly damaging Het
Btaf1 T A 19: 36,950,357 (GRCm39) I529K probably damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Ccdc78 T A 17: 26,006,044 (GRCm39) S71T probably damaging Het
Cct5 G T 15: 31,591,154 (GRCm39) Q516K probably benign Het
Cd300c2 A T 11: 114,891,685 (GRCm39) V63E probably benign Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Clec16a T C 16: 10,506,403 (GRCm39) F710L probably damaging Het
Clpb T G 7: 101,428,418 (GRCm39) F393V probably damaging Het
Commd9 G A 2: 101,731,376 (GRCm39) R187H probably damaging Het
Crx T A 7: 15,602,301 (GRCm39) K126* probably null Het
Dcaf13 T A 15: 39,001,483 (GRCm39) Y264N probably damaging Het
Dnah12 T A 14: 26,455,650 (GRCm39) I791N probably damaging Het
Dpy19l1 A T 9: 24,345,683 (GRCm39) D456E probably damaging Het
Dscam A G 16: 96,394,414 (GRCm39) S1963P probably benign Het
Efl1 C T 7: 82,412,325 (GRCm39) Q905* probably null Het
Farsa T C 8: 85,587,780 (GRCm39) F104L probably benign Het
Fbxl19 C A 7: 127,350,101 (GRCm39) A231E probably benign Het
Fbxw19 A T 9: 109,310,718 (GRCm39) N401K probably benign Het
Frem3 A G 8: 81,339,519 (GRCm39) N604S probably benign Het
Gad1 T G 2: 70,417,736 (GRCm39) C312G possibly damaging Het
Garem2 G T 5: 30,319,860 (GRCm39) E441* probably null Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm8206 A T 14: 6,022,475 (GRCm38) M8K probably benign Het
Gpr162 G A 6: 124,838,410 (GRCm39) S80F probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Il21 C T 3: 37,286,635 (GRCm39) R27H probably benign Het
Il21r C T 7: 125,228,153 (GRCm39) T208I possibly damaging Het
Kcnab2 T C 4: 152,520,323 (GRCm39) T6A possibly damaging Het
Klra4 T A 6: 130,042,207 (GRCm39) Q20L possibly damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Lrrtm3 A G 10: 63,924,292 (GRCm39) F292L possibly damaging Het
Mpeg1 A T 19: 12,440,011 (GRCm39) K490* probably null Het
Myh14 C T 7: 44,264,772 (GRCm39) M1671I probably benign Het
Nebl A T 2: 17,380,103 (GRCm39) M757K probably damaging Het
Or51m1 G T 7: 103,578,337 (GRCm39) M102I probably damaging Het
Or56b1b A C 7: 108,164,730 (GRCm39) F91V possibly damaging Het
Or5aq1 T A 2: 86,966,188 (GRCm39) H159L probably damaging Het
Pkhd1l1 A T 15: 44,404,280 (GRCm39) H2303L possibly damaging Het
Podxl2 C T 6: 88,826,587 (GRCm39) V240M probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prss53 T C 7: 127,485,434 (GRCm39) *553W probably null Het
Psma3 T A 12: 71,031,468 (GRCm39) M43K probably benign Het
Rad50 G T 11: 53,570,888 (GRCm39) T790K probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Scn10a T A 9: 119,439,064 (GRCm39) M1601L probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Serpinb5 A G 1: 106,803,851 (GRCm39) E8G probably damaging Het
Sgcg C T 14: 61,469,861 (GRCm39) V167I possibly damaging Het
Slc25a13 C T 6: 6,109,262 (GRCm39) V367M probably damaging Het
Spata31 T C 13: 65,068,424 (GRCm39) S191P probably benign Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Srgap1 G T 10: 121,761,808 (GRCm39) D113E possibly damaging Het
Srl A G 16: 4,310,214 (GRCm39) I505T probably damaging Het
St14 G A 9: 31,017,508 (GRCm39) T226I probably benign Het
Stard9 T A 2: 120,529,137 (GRCm39) I1798N possibly damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Susd1 A T 4: 59,351,695 (GRCm39) N455K possibly damaging Het
Sytl3 T A 17: 7,000,445 (GRCm39) V205E probably damaging Het
Tenm4 A G 7: 96,544,533 (GRCm39) Y2183C probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tlcd3b T A 7: 126,426,844 (GRCm39) probably null Het
Tlr1 T G 5: 65,082,781 (GRCm39) T599P possibly damaging Het
Trpc6 G A 9: 8,656,546 (GRCm39) D658N probably damaging Het
Ttc39b A G 4: 83,150,957 (GRCm39) V546A possibly damaging Het
Ube3c T C 5: 29,824,657 (GRCm39) Y561H probably damaging Het
Vmn1r29 T A 6: 58,284,405 (GRCm39) S42T probably benign Het
Vps4a T C 8: 107,771,190 (GRCm39) V392A probably benign Het
Wdfy4 T C 14: 32,855,301 (GRCm39) E771G probably benign Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null Het
Wnt5a C T 14: 28,233,802 (GRCm39) P10L probably benign Het
Zfhx2 T C 14: 55,312,695 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,903 (GRCm39) K132R 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
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'- ACACATTTTGCGCAAGTTTTCC -3'
(R):5'- GAAGGGGTTTTCCTGAGATCC -3'

Sequencing Primer
(F):5'- GATAATATCCACTTCTGCAAGGC -3'
(R):5'- TGAGATCCACTTCGTGAGGAC -3'
Posted On 2014-07-14