Incidental Mutation 'IGL02820:Fhad1'
ID360946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhad1
Ensembl Gene ENSMUSG00000051435
Gene Nameforkhead-associated (FHA) phosphopeptide binding domain 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02820
Quality Score
Status
Chromosome4
Chromosomal Location141890438-142015082 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 141918758 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 298 (D298N)
Ref Sequence ENSEMBL: ENSMUSP00000036224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036701] [ENSMUST00000105779] [ENSMUST00000105780]
Predicted Effect probably benign
Transcript: ENSMUST00000036701
AA Change: D298N

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036224
Gene: ENSMUSG00000051435
AA Change: D298N

DomainStartEndE-ValueType
coiled coil region 31 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105779
AA Change: D963N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: D963N

DomainStartEndE-ValueType
FHA 17 69 8.41e-8 SMART
low complexity region 111 124 N/A INTRINSIC
coiled coil region 307 434 N/A INTRINSIC
coiled coil region 640 915 N/A INTRINSIC
low complexity region 1091 1102 N/A INTRINSIC
coiled coil region 1111 1140 N/A INTRINSIC
coiled coil region 1255 1339 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105780
AA Change: D963N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: D963N

DomainStartEndE-ValueType
FHA 17 69 8.41e-8 SMART
low complexity region 111 124 N/A INTRINSIC
coiled coil region 307 434 N/A INTRINSIC
coiled coil region 640 915 N/A INTRINSIC
low complexity region 1091 1102 N/A INTRINSIC
coiled coil region 1111 1140 N/A INTRINSIC
coiled coil region 1255 1339 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137618
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,074,416 Y86C probably benign Het
Adgra2 G A 8: 27,117,507 V47M probably damaging Het
Anks1b T C 10: 90,077,059 C349R possibly damaging Het
Anks4b A T 7: 120,182,691 probably benign Het
Apobec2 A G 17: 48,423,267 S124P probably damaging Het
Brd8 G A 18: 34,607,301 S493L probably benign Het
Cbln3 A G 14: 55,883,487 Y126H probably damaging Het
Ccdc138 T C 10: 58,528,899 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ceacam2 T A 7: 25,519,986 H283L probably damaging Het
Clasp1 A G 1: 118,551,104 D718G possibly damaging Het
Clmn A T 12: 104,773,234 Y979N probably damaging Het
Ddias T C 7: 92,859,343 T455A probably benign Het
Dennd5b T C 6: 149,019,342 R851G probably null Het
Dock1 T C 7: 135,167,215 V1771A probably benign Het
Dysf T A 6: 84,100,205 L694Q probably damaging Het
Faim2 T C 15: 99,521,257 Y77C probably benign Het
Fbxw22 A T 9: 109,386,664 I172N probably damaging Het
Fyb T G 15: 6,658,559 V800G possibly damaging Het
Gcm1 T C 9: 78,064,562 F262L probably benign Het
Gm21983 T C 7: 27,180,180 M121V probably benign Het
Gm9996 A T 10: 29,143,661 probably benign Het
Gstm3 A T 3: 107,968,758 probably benign Het
Gsto2 G T 19: 47,874,959 E91D probably damaging Het
Hs6st3 G T 14: 119,139,080 M222I possibly damaging Het
Ighv3-6 T C 12: 114,288,230 D90G probably damaging Het
Itgb1bp1 C T 12: 21,276,853 A40T possibly damaging Het
Kcns3 C T 12: 11,091,871 E276K probably benign Het
Lamc3 C T 2: 31,923,022 R1007C probably damaging Het
Lnx2 A T 5: 147,042,067 M125K probably damaging Het
Lyst T A 13: 13,638,058 N1018K probably benign Het
Mctp2 T A 7: 72,245,542 S186C probably damaging Het
Mettl7a1 C A 15: 100,305,052 S51* probably null Het
Olfr352 A T 2: 36,869,859 T98S probably benign Het
Polg T C 7: 79,459,771 T433A possibly damaging Het
Rdh13 C T 7: 4,435,060 V127M probably damaging Het
Rdh16 A G 10: 127,813,601 T309A probably benign Het
Reep5 A T 18: 34,373,259 D21E probably benign Het
Rptn A T 3: 93,396,920 N520I probably benign Het
Rttn T C 18: 89,028,998 L928P probably damaging Het
Slc44a2 A G 9: 21,342,977 I212V probably benign Het
Snupn A G 9: 56,963,048 T71A probably benign Het
Ssu2 T C 6: 112,382,392 N89S probably benign Het
Thsd7a A G 6: 12,321,072 S1535P probably damaging Het
Uba7 A T 9: 107,981,516 S849C probably benign Het
Vmn2r80 A G 10: 79,171,605 T472A probably benign Het
Wdr6 A G 9: 108,578,544 I17T probably benign Het
Wdr66 A G 5: 123,254,636 probably benign Het
Xkr9 G A 1: 13,700,949 V230I probably benign Het
Other mutations in Fhad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Fhad1 APN 4 141905612 missense probably benign 0.02
IGL01478:Fhad1 APN 4 141951638 missense possibly damaging 0.84
IGL01752:Fhad1 APN 4 141972899 missense possibly damaging 0.82
IGL01788:Fhad1 APN 4 141932802 missense probably benign 0.00
IGL01919:Fhad1 APN 4 141964595 missense probably damaging 0.96
IGL02489:Fhad1 APN 4 141957620 missense probably damaging 0.97
IGL02568:Fhad1 APN 4 141932794 missense probably null 1.00
IGL02583:Fhad1 APN 4 142011644 utr 5 prime probably benign
IGL02716:Fhad1 APN 4 141918331 missense possibly damaging 0.89
IGL02819:Fhad1 APN 4 141918758 missense probably benign 0.23
IGL03038:Fhad1 APN 4 142002494 missense probably benign 0.38
IGL03167:Fhad1 APN 4 141972797 missense probably benign 0.00
IGL03255:Fhad1 APN 4 141972880 missense possibly damaging 0.79
PIT1430001:Fhad1 UTSW 4 141909749 missense probably damaging 0.99
R0014:Fhad1 UTSW 4 141928408 missense probably damaging 1.00
R0116:Fhad1 UTSW 4 141940095 missense probably benign 0.06
R0143:Fhad1 UTSW 4 141929646 splice site probably benign
R0178:Fhad1 UTSW 4 141955340 missense probably benign 0.31
R0308:Fhad1 UTSW 4 141985593 splice site probably benign
R0384:Fhad1 UTSW 4 142002426 missense probably benign
R0583:Fhad1 UTSW 4 141903990 missense probably benign 0.37
R1501:Fhad1 UTSW 4 141964625 missense probably benign
R1584:Fhad1 UTSW 4 141985511 missense probably benign 0.22
R1615:Fhad1 UTSW 4 141922323 missense probably damaging 0.99
R1991:Fhad1 UTSW 4 141982162 missense possibly damaging 0.75
R2060:Fhad1 UTSW 4 141899249 missense probably benign 0.08
R2079:Fhad1 UTSW 4 141991202 nonsense probably null
R2133:Fhad1 UTSW 4 141928400 missense probably damaging 1.00
R2337:Fhad1 UTSW 4 141922344 missense possibly damaging 0.84
R2843:Fhad1 UTSW 4 141904968 missense probably benign 0.06
R2844:Fhad1 UTSW 4 141904968 missense probably benign 0.06
R2845:Fhad1 UTSW 4 141904968 missense probably benign 0.06
R2846:Fhad1 UTSW 4 141904968 missense probably benign 0.06
R2866:Fhad1 UTSW 4 141920788 missense probably benign 0.00
R3119:Fhad1 UTSW 4 141918307 frame shift probably null
R3760:Fhad1 UTSW 4 141909813 missense probably damaging 1.00
R4180:Fhad1 UTSW 4 141985543 missense possibly damaging 0.69
R4466:Fhad1 UTSW 4 141957658 missense probably damaging 1.00
R4627:Fhad1 UTSW 4 141896468 missense possibly damaging 0.47
R4680:Fhad1 UTSW 4 142011547 nonsense probably null
R4725:Fhad1 UTSW 4 141928378 critical splice donor site probably null
R4755:Fhad1 UTSW 4 141928483 missense probably damaging 1.00
R4831:Fhad1 UTSW 4 141916067 splice site probably null
R4909:Fhad1 UTSW 4 141985511 missense probably benign 0.01
R4968:Fhad1 UTSW 4 141918307 missense probably damaging 1.00
R5004:Fhad1 UTSW 4 142002599 critical splice acceptor site probably null
R5036:Fhad1 UTSW 4 141920741 missense probably benign 0.03
R5048:Fhad1 UTSW 4 141964676 critical splice acceptor site probably null
R5416:Fhad1 UTSW 4 141918802 missense probably benign 0.39
R5504:Fhad1 UTSW 4 141985535 missense probably benign
R5586:Fhad1 UTSW 4 141905131 missense probably benign 0.44
R5692:Fhad1 UTSW 4 141963457 missense probably benign 0.00
R5706:Fhad1 UTSW 4 141954116 missense probably damaging 1.00
R5773:Fhad1 UTSW 4 141929570 missense probably damaging 0.99
R5823:Fhad1 UTSW 4 141955306 missense possibly damaging 0.84
R5833:Fhad1 UTSW 4 142002527 missense probably damaging 1.00
R6170:Fhad1 UTSW 4 141890952 nonsense probably null
R6286:Fhad1 UTSW 4 141920898 missense probably damaging 1.00
R6610:Fhad1 UTSW 4 141916396 missense possibly damaging 0.94
R6755:Fhad1 UTSW 4 141964604 missense probably damaging 1.00
R7006:Fhad1 UTSW 4 141918291 frame shift probably null
R7008:Fhad1 UTSW 4 141918291 frame shift probably null
R7012:Fhad1 UTSW 4 141918291 frame shift probably null
R7014:Fhad1 UTSW 4 141918291 frame shift probably null
R7058:Fhad1 UTSW 4 141918291 frame shift probably null
R7059:Fhad1 UTSW 4 141918291 frame shift probably null
R7060:Fhad1 UTSW 4 141918291 frame shift probably null
R7159:Fhad1 UTSW 4 141951616 missense probably benign 0.01
X0018:Fhad1 UTSW 4 141951616 missense probably benign 0.01
Posted On2015-12-18