Incidental Mutation 'R8320:Foxj2'
ID 641904
Institutional Source Beutler Lab
Gene Symbol Foxj2
Ensembl Gene ENSMUSG00000003154
Gene Name forkhead box J2
Synonyms Fhx
MMRRC Submission 067722-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.510) question?
Stock # R8320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 122797143-122822325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122810649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 210 (S210T)
Ref Sequence ENSEMBL: ENSMUSP00000003238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003238] [ENSMUST00000177927] [ENSMUST00000203075]
AlphaFold Q9ES18
Predicted Effect probably benign
Transcript: ENSMUST00000003238
AA Change: S210T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154
AA Change: S210T

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
FH 64 153 1.77e-47 SMART
low complexity region 207 222 N/A INTRINSIC
low complexity region 266 275 N/A INTRINSIC
low complexity region 290 314 N/A INTRINSIC
low complexity region 359 393 N/A INTRINSIC
low complexity region 535 549 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177927
AA Change: S210T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154
AA Change: S210T

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
FH 64 153 1.77e-47 SMART
low complexity region 207 222 N/A INTRINSIC
low complexity region 266 275 N/A INTRINSIC
low complexity region 290 314 N/A INTRINSIC
low complexity region 359 393 N/A INTRINSIC
low complexity region 535 549 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203075
SMART Domains Protein: ENSMUSP00000145438
Gene: ENSMUSG00000003154

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
FH 64 153 7.8e-50 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb10 A G 5: 24,742,626 (GRCm39) probably null Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Clec3a T C 8: 115,152,369 (GRCm39) V125A probably benign Het
Clspn A G 4: 126,457,743 (GRCm39) D258G possibly damaging Het
Cnn3 T G 3: 121,243,635 (GRCm39) L32R probably damaging Het
Cntnap5a T C 1: 116,374,466 (GRCm39) F993L possibly damaging Het
Cobl A G 11: 12,217,001 (GRCm39) S496P probably damaging Het
Dmxl2 A G 9: 54,291,043 (GRCm39) V2469A probably benign Het
Egfr T C 11: 16,841,251 (GRCm39) F714S probably damaging Het
Erap1 G C 13: 74,814,668 (GRCm39) E465Q probably benign Het
Ercc6 T C 14: 32,242,972 (GRCm39) V204A probably benign Het
Fbln2 C T 6: 91,234,749 (GRCm39) T689I possibly damaging Het
Fbxw13 G T 9: 109,012,134 (GRCm39) T311K probably benign Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Grid2 T C 6: 63,233,917 (GRCm39) I26T probably benign Het
Gzmd A G 14: 56,367,190 (GRCm39) I234T probably benign Het
Igkv2-137 GA GAA 6: 67,533,154 (GRCm39) probably null Het
Kif26b T C 1: 178,711,641 (GRCm39) probably null Het
Klk1b1 C T 7: 43,619,767 (GRCm39) R109C possibly damaging Het
Klra10 A G 6: 130,246,211 (GRCm39) C255R probably damaging Het
Lgi4 T C 7: 30,768,366 (GRCm39) V455A probably benign Het
Mucl3 T C 17: 35,954,530 (GRCm39) T11A probably benign Het
Neb C A 2: 52,186,343 (GRCm39) V910L probably benign Het
Pigg G A 5: 108,495,717 (GRCm39) R918H probably benign Het
Poln A G 5: 34,307,171 (GRCm39) V10A possibly damaging Het
Polr1a T A 6: 71,918,368 (GRCm39) M642K probably damaging Het
Rasal1 C T 5: 120,804,420 (GRCm39) R431C probably benign Het
Rfc1 A T 5: 65,460,379 (GRCm39) Y167* probably null Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Sars2 C T 7: 28,446,293 (GRCm39) T174I probably damaging Het
Septin4 T C 11: 87,480,560 (GRCm39) V398A possibly damaging Het
Slc6a2 C T 8: 93,719,476 (GRCm39) T397I probably benign Het
Smarca4 G T 9: 21,588,798 (GRCm39) R1200L probably benign Het
Stx7 G T 10: 24,055,046 (GRCm39) A63S probably damaging Het
Sval3 G A 6: 41,949,458 (GRCm39) V99I probably benign Het
Syna A G 5: 134,588,574 (GRCm39) I125T possibly damaging Het
Syne2 T C 12: 76,150,604 (GRCm39) S1827P probably damaging Het
Taf4b T C 18: 14,916,749 (GRCm39) V33A possibly damaging Het
Tpcn2 C T 7: 144,820,359 (GRCm39) R373H possibly damaging Het
Trpm1 A G 7: 63,918,541 (GRCm39) D1511G possibly damaging Het
Ttc3 C A 16: 94,219,535 (GRCm39) R487S probably damaging Het
Tubb3 T C 8: 124,147,594 (GRCm39) S176P possibly damaging Het
Zfp189 C G 4: 49,530,180 (GRCm39) Q428E probably benign Het
Zscan4d C T 7: 10,799,942 (GRCm39) V316M probably benign Het
Other mutations in Foxj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Foxj2 APN 6 122,816,594 (GRCm39) missense probably damaging 1.00
IGL01100:Foxj2 APN 6 122,805,350 (GRCm39) missense probably damaging 1.00
IGL02169:Foxj2 APN 6 122,805,425 (GRCm39) missense probably damaging 0.98
IGL02220:Foxj2 APN 6 122,815,540 (GRCm39) splice site probably benign
IGL02423:Foxj2 APN 6 122,819,732 (GRCm39) missense possibly damaging 0.90
IGL03026:Foxj2 APN 6 122,815,139 (GRCm39) missense probably benign 0.38
IGL03198:Foxj2 APN 6 122,809,966 (GRCm39) critical splice donor site probably null
R0400:Foxj2 UTSW 6 122,810,767 (GRCm39) missense possibly damaging 0.69
R1572:Foxj2 UTSW 6 122,810,220 (GRCm39) missense probably benign 0.00
R2063:Foxj2 UTSW 6 122,817,200 (GRCm39) missense probably benign 0.01
R2568:Foxj2 UTSW 6 122,805,331 (GRCm39) missense probably damaging 1.00
R2877:Foxj2 UTSW 6 122,819,791 (GRCm39) missense probably damaging 0.96
R4745:Foxj2 UTSW 6 122,814,948 (GRCm39) missense probably damaging 1.00
R4763:Foxj2 UTSW 6 122,810,230 (GRCm39) missense probably benign 0.27
R4764:Foxj2 UTSW 6 122,810,230 (GRCm39) missense probably benign 0.27
R4765:Foxj2 UTSW 6 122,810,230 (GRCm39) missense probably benign 0.27
R4775:Foxj2 UTSW 6 122,810,230 (GRCm39) missense probably benign 0.27
R5056:Foxj2 UTSW 6 122,810,833 (GRCm39) missense probably benign 0.00
R5816:Foxj2 UTSW 6 122,810,695 (GRCm39) missense probably benign
R6254:Foxj2 UTSW 6 122,815,098 (GRCm39) missense probably damaging 0.98
R6265:Foxj2 UTSW 6 122,805,133 (GRCm39) missense probably damaging 0.99
R6540:Foxj2 UTSW 6 122,810,202 (GRCm39) missense probably benign
R6882:Foxj2 UTSW 6 122,805,464 (GRCm39) critical splice donor site probably null
R6981:Foxj2 UTSW 6 122,819,798 (GRCm39) missense probably benign 0.14
R6981:Foxj2 UTSW 6 122,805,403 (GRCm39) missense probably damaging 1.00
R7295:Foxj2 UTSW 6 122,817,190 (GRCm39) missense probably benign 0.14
R7475:Foxj2 UTSW 6 122,814,801 (GRCm39) missense probably benign 0.14
R8075:Foxj2 UTSW 6 122,815,055 (GRCm39) nonsense probably null
R8287:Foxj2 UTSW 6 122,805,226 (GRCm39) missense possibly damaging 0.48
R8511:Foxj2 UTSW 6 122,808,404 (GRCm39) nonsense probably null
R9498:Foxj2 UTSW 6 122,819,792 (GRCm39) missense probably damaging 0.96
Z1176:Foxj2 UTSW 6 122,810,670 (GRCm39) missense probably benign
Z1176:Foxj2 UTSW 6 122,809,895 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGATGTAGAAGCCAGGTTCAAG -3'
(R):5'- GAAGAGAACATTACCACTTGACAG -3'

Sequencing Primer
(F):5'- CCAGGTTCAAGATGGCCAATG -3'
(R):5'- GGAGACATGCAGATCTCTTTACG -3'
Posted On 2020-07-28