Incidental Mutation 'R8007:Foxp1'
ID 616685
Institutional Source Beutler Lab
Gene Symbol Foxp1
Ensembl Gene ENSMUSG00000030067
Gene Name forkhead box P1
Synonyms 3110052D19Rik, 4932443N09Rik
MMRRC Submission 046047-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8007 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 98902299-99499682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98918595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 514 (S514R)
Ref Sequence ENSEMBL: ENSMUSP00000108952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074346] [ENSMUST00000113322] [ENSMUST00000113324] [ENSMUST00000113326] [ENSMUST00000113328] [ENSMUST00000113329] [ENSMUST00000124058] [ENSMUST00000176565] [ENSMUST00000176632] [ENSMUST00000176850] [ENSMUST00000177229] [ENSMUST00000177230] [ENSMUST00000177307] [ENSMUST00000177437]
AlphaFold P58462
Predicted Effect possibly damaging
Transcript: ENSMUST00000074346
AA Change: S546R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067
AA Change: S546R

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: S546R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067
AA Change: S546R

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 damaging
Transcript: ENSMUST00000113324
AA Change: S547R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067
AA Change: S547R

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: S514R
SMART Domains Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067
AA Change: S514R

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: S547R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067
AA Change: S547R

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: 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: ENSMUST00000176565
AA Change: S546R
SMART Domains Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067
AA Change: S546R

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 possibly damaging
Transcript: ENSMUST00000176632
AA Change: S515R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067
AA Change: S515R

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 damaging
Transcript: ENSMUST00000176850
AA Change: S516R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067
AA Change: S516R

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 damaging
Transcript: ENSMUST00000177229
AA Change: S418R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134817
Gene: ENSMUSG00000030067
AA Change: S418R

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 probably damaging
Transcript: ENSMUST00000177230
AA Change: S516R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067
AA Change: S516R

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 unknown
Transcript: ENSMUST00000177307
AA Change: S547R
SMART Domains Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067
AA Change: S547R

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: ENSMUST00000177437
AA Change: S417R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135809
Gene: ENSMUSG00000030067
AA Change: S417R

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
Meta Mutation Damage Score 0.9197 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,647,845 (GRCm39) probably benign Het
A430033K04Rik T C 5: 138,644,901 (GRCm39) I262T probably benign Het
Acacb A G 5: 114,356,935 (GRCm39) R1289G probably damaging Het
Adgre4 A T 17: 56,121,233 (GRCm39) H433L probably damaging Het
Adgrv1 A G 13: 81,431,585 (GRCm39) F5948L probably benign Het
Adtrp A T 13: 41,969,707 (GRCm39) D97E probably damaging Het
Anapc5 T C 5: 122,929,963 (GRCm39) T543A probably benign Het
Ank2 G C 3: 126,730,096 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,289,405 (GRCm39) A813V probably benign Het
Cc2d2a T A 5: 43,863,442 (GRCm39) Y684N possibly damaging Het
Cenpf G A 1: 189,379,144 (GRCm39) P35L Het
Chtf18 A G 17: 25,944,508 (GRCm39) F281L probably damaging Het
Clstn1 T C 4: 149,716,305 (GRCm39) V257A probably damaging Het
Cnmd A T 14: 79,875,406 (GRCm39) V338E probably damaging Het
Col6a3 A C 1: 90,705,179 (GRCm39) F2848V unknown Het
Corin T C 5: 72,473,446 (GRCm39) S888G probably damaging Het
Ctss A T 3: 95,457,465 (GRCm39) S309C probably null Het
Dmxl2 G A 9: 54,290,975 (GRCm39) Q2492* probably null Het
Exoc7 C T 11: 116,197,465 (GRCm39) R12Q possibly damaging Het
F12 A G 13: 55,566,265 (GRCm39) I509T probably damaging Het
F13b A G 1: 139,434,680 (GRCm39) K149E probably benign Het
Fasn A G 11: 120,700,353 (GRCm39) I2159T probably benign Het
Fgfr2 A T 7: 129,765,719 (GRCm39) Y831* probably null Het
Gm11569 A G 11: 99,689,688 (GRCm39) S4P unknown Het
Gria4 T C 9: 4,503,740 (GRCm39) probably benign Het
Hnrnpul2 T A 19: 8,798,179 (GRCm39) probably null Het
Ibtk A T 9: 85,572,770 (GRCm39) D1257E probably benign Het
Ip6k2 T C 9: 108,682,955 (GRCm39) V355A probably benign Het
Kcnd2 G A 6: 21,217,073 (GRCm39) R259H probably damaging Het
Kcnj2 A C 11: 110,963,884 (GRCm39) E425D probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lgi2 C A 5: 52,723,375 (GRCm39) A25S probably benign Het
Lrp2 T C 2: 69,336,849 (GRCm39) T1308A probably benign Het
Ly6g2 A G 15: 75,088,552 (GRCm39) T7A probably benign Het
Matn2 A T 15: 34,426,315 (GRCm39) N609I probably benign Het
Mocs2 T A 13: 114,957,409 (GRCm39) S9T possibly damaging Het
Nebl T A 2: 17,375,300 (GRCm39) I102F Het
Nudt19 A G 7: 35,255,045 (GRCm39) V62A probably benign Het
Or10u4 T A 10: 129,801,744 (GRCm39) D269V possibly damaging Het
Or12k8 T A 2: 36,974,855 (GRCm39) R302W probably damaging Het
Or4a68 C T 2: 89,270,684 (GRCm39) Het
Or4k42 A T 2: 111,320,068 (GRCm39) V145E probably damaging Het
Pacrg A G 17: 11,058,919 (GRCm39) probably benign Het
Pappa2 A G 1: 158,609,874 (GRCm39) I1529T probably damaging Het
Pcdhga7 A T 18: 37,849,946 (GRCm39) H651L probably benign Het
Plch2 A G 4: 155,087,288 (GRCm39) L321P probably damaging Het
Ppargc1b A T 18: 61,443,565 (GRCm39) S549T possibly damaging Het
Rtel1 T A 2: 180,976,767 (GRCm39) N254K probably damaging Het
Rtl1 T C 12: 109,558,060 (GRCm39) N1260D possibly damaging Het
Samd7 T A 3: 30,812,531 (GRCm39) W324R probably damaging Het
Serpinb9e A G 13: 33,435,605 (GRCm39) I13V probably benign Het
Skint10 A G 4: 112,568,865 (GRCm39) L284S possibly damaging Het
Slc25a38 T A 9: 119,951,208 (GRCm39) I247K possibly damaging Het
Smarce1 G C 11: 99,115,876 (GRCm39) N48K possibly damaging Het
Stmn4 T G 14: 66,593,032 (GRCm39) probably benign Het
Stt3a G C 9: 36,653,065 (GRCm39) T539R probably damaging Het
Tab1 G A 15: 80,042,969 (GRCm39) V388I possibly damaging Het
Tcf12 G C 9: 71,841,905 (GRCm39) probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trp53inp1 T C 4: 11,164,525 (GRCm39) F23S probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Yae1d1 G A 13: 18,164,329 (GRCm39) S96L probably damaging Het
Zfp142 T C 1: 74,610,655 (GRCm39) I1047V probably benign 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
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'- AACGTGAAAACCAGGTCTTTG -3'
(R):5'- GACACTCGGAAGAAGATCCTC -3'

Sequencing Primer
(F):5'- CCAGGTCTTTGGTCTGACAC -3'
(R):5'- ACATGTGGGGCTGAATGT -3'
Posted On 2020-01-23