Incidental Mutation 'IGL02169:Foxj2'
ID282813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxj2
Ensembl Gene ENSMUSG00000003154
Gene Nameforkhead box J2
SynonymsFhx
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.427) question?
Stock #IGL02169
Quality Score
Status
Chromosome6
Chromosomal Location122819914-122845366 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122828466 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 99 (N99S)
Ref Sequence ENSEMBL: ENSMUSP00000145438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003238] [ENSMUST00000177927] [ENSMUST00000203075]
Predicted Effect probably benign
Transcript: ENSMUST00000003238
AA Change: N99S

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154
AA Change: N99S

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: N99S

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154
AA Change: N99S

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 noncoding transcript
Transcript: ENSMUST00000196252
Predicted Effect probably damaging
Transcript: ENSMUST00000203075
AA Change: N99S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145438
Gene: ENSMUSG00000003154
AA Change: N99S

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
FH 64 153 7.8e-50 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,952,582 I1001F probably damaging Het
Amfr A T 8: 94,005,230 probably null Het
Apol7c T G 15: 77,526,416 D110A possibly damaging Het
Bcr A G 10: 75,159,882 N899S probably benign Het
Ccnt2 T A 1: 127,774,389 probably benign Het
Clptm1l G A 13: 73,611,663 V281I probably damaging Het
Ctsr A G 13: 61,163,240 probably benign Het
Dbh G A 2: 27,174,898 V374M probably damaging Het
Eif3b A G 5: 140,430,081 D385G possibly damaging Het
F830045P16Rik A G 2: 129,463,572 V294A probably damaging Het
Gabrr1 T G 4: 33,160,261 V315G probably damaging Het
Gm21988 T C 11: 70,238,938 E25G probably benign Het
Islr A T 9: 58,158,132 F31I possibly damaging Het
L2hgdh A T 12: 69,721,397 L109Q probably damaging Het
Lrp6 A G 6: 134,513,327 I96T probably damaging Het
Nup93 A G 8: 94,302,129 D330G probably damaging Het
Olfr1080 T C 2: 86,553,882 M81V probably benign Het
Olfr703 T A 7: 106,845,266 Y218* probably null Het
Phtf1 C A 3: 103,997,499 L488I probably benign Het
Plac8l1 T C 18: 42,178,943 D137G probably damaging Het
Pth1r G A 9: 110,724,435 T392I probably damaging Het
Rab43 A G 6: 87,811,424 F41L probably damaging Het
Ralgapb C T 2: 158,426,204 L76F probably damaging Het
Ros1 A G 10: 52,081,957 probably null Het
Rpl27a T C 7: 109,519,978 I43T probably benign Het
Set G A 2: 30,069,524 D129N possibly damaging Het
Sorbs2 A T 8: 45,823,749 Y604F probably damaging Het
Tg T C 15: 66,757,943 V491A probably benign Het
Txlna T C 4: 129,629,613 T429A probably damaging Het
Vmn1r128 C T 7: 21,350,238 P289L probably damaging Het
Wfs1 A G 5: 36,968,479 F356S probably damaging Het
Zfp687 G A 3: 95,011,432 T343I probably damaging Het
Zfp935 A G 13: 62,456,931 probably null Het
Other mutations in Foxj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Foxj2 APN 6 122839635 missense probably damaging 1.00
IGL01100:Foxj2 APN 6 122828391 missense probably damaging 1.00
IGL02220:Foxj2 APN 6 122838581 splice site probably benign
IGL02423:Foxj2 APN 6 122842773 missense possibly damaging 0.90
IGL03026:Foxj2 APN 6 122838180 missense probably benign 0.38
IGL03198:Foxj2 APN 6 122833007 critical splice donor site probably null
R0400:Foxj2 UTSW 6 122833808 missense possibly damaging 0.69
R1572:Foxj2 UTSW 6 122833261 missense probably benign 0.00
R2063:Foxj2 UTSW 6 122840241 missense probably benign 0.01
R2568:Foxj2 UTSW 6 122828372 missense probably damaging 1.00
R2877:Foxj2 UTSW 6 122842832 missense probably damaging 0.96
R4745:Foxj2 UTSW 6 122837989 missense probably damaging 1.00
R4763:Foxj2 UTSW 6 122833271 missense probably benign 0.27
R4764:Foxj2 UTSW 6 122833271 missense probably benign 0.27
R4765:Foxj2 UTSW 6 122833271 missense probably benign 0.27
R4775:Foxj2 UTSW 6 122833271 missense probably benign 0.27
R5056:Foxj2 UTSW 6 122833874 missense probably benign 0.00
R5816:Foxj2 UTSW 6 122833736 missense probably benign
R6254:Foxj2 UTSW 6 122838139 missense probably damaging 0.98
R6265:Foxj2 UTSW 6 122828174 missense probably damaging 0.99
R6540:Foxj2 UTSW 6 122833243 missense probably benign
R6882:Foxj2 UTSW 6 122828505 critical splice donor site probably null
R6981:Foxj2 UTSW 6 122842839 missense probably benign 0.14
R6981:Foxj2 UTSW 6 122828444 missense probably damaging 1.00
R7295:Foxj2 UTSW 6 122840231 missense probably benign 0.14
R7475:Foxj2 UTSW 6 122837842 missense probably benign 0.14
Z1176:Foxj2 UTSW 6 122833711 missense probably benign
Z1176:Foxj2 UTSW 6 122832936 critical splice acceptor site probably null
Posted On2015-04-16