Incidental Mutation 'R1501:Fhad1'
ID 169249
Institutional Source Beutler Lab
Gene Symbol Fhad1
Ensembl Gene ENSMUSG00000051435
Gene Name forkhead-associated phosphopeptide binding domain 1
Synonyms 2900090M10Rik
MMRRC Submission 040867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1501 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 141617749-141742393 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 141691936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 400 (R400H)
Ref Sequence ENSEMBL: ENSMUSP00000101406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105779] [ENSMUST00000105780]
AlphaFold A6PWD2
Predicted Effect probably benign
Transcript: ENSMUST00000105779
AA Change: R400H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101405
Gene: ENSMUSG00000051435
AA Change: R400H

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: R400H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101406
Gene: ENSMUSG00000051435
AA Change: R400H

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: ENSMUST00000123068
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,750,787 (GRCm39) S533R probably benign Het
Amph C T 13: 19,288,461 (GRCm39) Q317* probably null Het
Bach2 A G 4: 32,562,279 (GRCm39) T249A possibly damaging Het
Cacna2d3 A G 14: 28,703,137 (GRCm39) C845R probably damaging Het
Calml4 A G 9: 62,778,622 (GRCm39) K12E probably benign Het
Chrd C T 16: 20,556,283 (GRCm39) R615W probably damaging Het
Chst15 T A 7: 131,870,798 (GRCm39) K246* probably null Het
Cmtr2 G A 8: 110,948,235 (GRCm39) D182N probably benign Het
Cyp2d9 C A 15: 82,338,525 (GRCm39) C186* probably null Het
Cyp3a13 G T 5: 137,909,892 (GRCm39) probably null Het
Dcaf17 A T 2: 70,912,332 (GRCm39) I320F probably damaging Het
Ddx10 T C 9: 53,145,297 (GRCm39) I227V possibly damaging Het
Dlc1 G T 8: 37,405,302 (GRCm39) N162K probably benign Het
Dnhd1 G A 7: 105,317,670 (GRCm39) R455H probably benign Het
Drg2 G T 11: 60,355,679 (GRCm39) A306S probably benign Het
Dsg1a A T 18: 20,465,076 (GRCm39) R422S probably damaging Het
Ehbp1l1 A G 19: 5,766,452 (GRCm39) V353A probably damaging Het
Emilin2 T C 17: 71,617,756 (GRCm39) S34G probably benign Het
Enpp2 C A 15: 54,702,910 (GRCm39) W862L probably damaging Het
Exoc2 T C 13: 31,119,485 (GRCm39) I139V probably benign Het
Fv1 C T 4: 147,954,595 (GRCm39) T387M probably damaging Het
Gatad1 T A 5: 3,693,701 (GRCm39) D156V probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm4799 G A 10: 82,790,469 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,333,804 (GRCm39) F405S probably benign Het
Ifit3 T C 19: 34,565,651 (GRCm39) V399A probably benign Het
Il1rapl1 G T X: 86,348,469 (GRCm39) Y150* probably null Het
Kirrel1 T C 3: 86,997,779 (GRCm39) E248G probably benign Het
Krt72 C A 15: 101,686,769 (GRCm39) K392N probably damaging Het
Loxhd1 G A 18: 77,444,528 (GRCm39) G309D probably damaging Het
Mc3r T G 2: 172,091,300 (GRCm39) I174S probably benign Het
Me3 A G 7: 89,282,273 (GRCm39) D52G probably benign Het
Med12l T C 3: 59,168,256 (GRCm39) probably null Het
Mgat5 G A 1: 127,325,378 (GRCm39) probably null Het
Mphosph10 A T 7: 64,039,252 (GRCm39) F239L probably damaging Het
Mrps7 T C 11: 115,495,023 (GRCm39) S13P probably benign Het
Nexn T C 3: 151,943,323 (GRCm39) T527A possibly damaging Het
Nlrp1b G A 11: 71,046,885 (GRCm39) H1156Y probably damaging Het
Nostrin A G 2: 68,989,129 (GRCm39) E120G probably damaging Het
Nsun2 A G 13: 69,779,706 (GRCm39) E624G probably damaging Het
Oga T C 19: 45,767,079 (GRCm39) D99G probably null Het
Or4c102 G A 2: 88,422,492 (GRCm39) V115I possibly damaging Het
Or4k2 A G 14: 50,424,539 (GRCm39) I45T probably damaging Het
Or52n4b G A 7: 108,143,782 (GRCm39) V15I probably benign Het
Or5p70 A C 7: 107,995,289 (GRCm39) K321Q probably benign Het
Phldb2 T C 16: 45,598,146 (GRCm39) N802S probably damaging Het
Pik3c2g T C 6: 139,789,796 (GRCm39) probably null Het
Pikfyve T A 1: 65,304,443 (GRCm39) I1670N possibly damaging Het
Pld5 A G 1: 175,803,087 (GRCm39) F393L probably benign Het
Plekhg1 C A 10: 3,907,361 (GRCm39) D759E probably benign Het
Plekhm1 A G 11: 103,277,888 (GRCm39) S403P probably benign Het
Pop1 T C 15: 34,510,503 (GRCm39) F432L probably benign Het
Ptpn13 T C 5: 103,664,230 (GRCm39) I406T probably benign Het
Ptpn5 G T 7: 46,739,623 (GRCm39) D185E probably benign Het
Rad50 G T 11: 53,578,978 (GRCm39) Q527K possibly damaging Het
Scn7a A G 2: 66,530,507 (GRCm39) F613L probably benign Het
Sec16a T A 2: 26,330,057 (GRCm39) M653L probably benign Het
Sh3bp2 T C 5: 34,712,920 (GRCm39) probably null Het
Slc22a3 G A 17: 12,725,991 (GRCm39) T74I probably benign Het
Slc23a4 A G 6: 34,932,057 (GRCm39) L272P probably damaging Het
Slc26a8 T C 17: 28,857,536 (GRCm39) D869G possibly damaging Het
Slc5a11 T A 7: 122,859,731 (GRCm39) V291E probably damaging Het
Slc6a19 C A 13: 73,832,167 (GRCm39) A470S probably benign Het
Slfn8 A G 11: 82,894,006 (GRCm39) S878P probably damaging Het
Smchd1 A G 17: 71,672,089 (GRCm39) M1655T possibly damaging Het
Srgap2 A G 1: 131,220,437 (GRCm39) L179P probably damaging Het
Tbx2 A G 11: 85,725,622 (GRCm39) D191G probably damaging Het
Tenm3 A G 8: 48,796,351 (GRCm39) Y485H probably damaging Het
Trim12c T A 7: 103,990,095 (GRCm39) probably benign Het
Trpc6 A G 9: 8,610,170 (GRCm39) T213A probably damaging Het
Upp1 T A 11: 9,084,708 (GRCm39) probably null Het
Vmn1r46 A T 6: 89,953,198 (GRCm39) I16L probably benign Het
Vmn2r75 A T 7: 85,814,850 (GRCm39) D214E possibly damaging Het
Vmn2r95 T A 17: 18,660,118 (GRCm39) Y177N probably damaging Het
Vmn2r99 T G 17: 19,582,521 (GRCm39) I42S possibly damaging Het
Zeb1 A T 18: 5,761,399 (GRCm39) K232N possibly damaging Het
Zfp280b T C 10: 75,875,603 (GRCm39) I494T probably damaging Het
Zfp804a A G 2: 82,066,143 (GRCm39) D38G probably damaging Het
Other mutations in Fhad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Fhad1 APN 4 141,632,923 (GRCm39) missense probably benign 0.02
IGL01478:Fhad1 APN 4 141,678,949 (GRCm39) missense possibly damaging 0.84
IGL01752:Fhad1 APN 4 141,700,210 (GRCm39) missense possibly damaging 0.82
IGL01788:Fhad1 APN 4 141,660,113 (GRCm39) missense probably benign 0.00
IGL01919:Fhad1 APN 4 141,691,906 (GRCm39) missense probably damaging 0.96
IGL02489:Fhad1 APN 4 141,684,931 (GRCm39) missense probably damaging 0.97
IGL02568:Fhad1 APN 4 141,660,105 (GRCm39) missense probably null 1.00
IGL02583:Fhad1 APN 4 141,738,955 (GRCm39) utr 5 prime probably benign
IGL02716:Fhad1 APN 4 141,645,642 (GRCm39) missense possibly damaging 0.89
IGL02819:Fhad1 APN 4 141,646,069 (GRCm39) missense probably benign 0.23
IGL02820:Fhad1 APN 4 141,646,069 (GRCm39) missense probably benign 0.23
IGL03038:Fhad1 APN 4 141,729,805 (GRCm39) missense probably benign 0.38
IGL03167:Fhad1 APN 4 141,700,108 (GRCm39) missense probably benign 0.00
IGL03255:Fhad1 APN 4 141,700,191 (GRCm39) missense possibly damaging 0.79
R4466_Fhad1_343 UTSW 4 141,684,969 (GRCm39) missense probably damaging 1.00
R4831_Fhad1_494 UTSW 4 141,643,378 (GRCm39) splice site probably null
R5504_Fhad1_818 UTSW 4 141,712,846 (GRCm39) missense probably benign
BB002:Fhad1 UTSW 4 141,681,498 (GRCm39) missense probably damaging 0.97
BB012:Fhad1 UTSW 4 141,681,498 (GRCm39) missense probably damaging 0.97
PIT1430001:Fhad1 UTSW 4 141,637,060 (GRCm39) missense probably damaging 0.99
R0014:Fhad1 UTSW 4 141,655,719 (GRCm39) missense probably damaging 1.00
R0116:Fhad1 UTSW 4 141,667,406 (GRCm39) missense probably benign 0.06
R0143:Fhad1 UTSW 4 141,656,957 (GRCm39) splice site probably benign
R0178:Fhad1 UTSW 4 141,682,651 (GRCm39) missense probably benign 0.31
R0308:Fhad1 UTSW 4 141,712,904 (GRCm39) splice site probably benign
R0384:Fhad1 UTSW 4 141,729,737 (GRCm39) missense probably benign
R0583:Fhad1 UTSW 4 141,631,301 (GRCm39) missense probably benign 0.37
R1584:Fhad1 UTSW 4 141,712,822 (GRCm39) missense probably benign 0.22
R1615:Fhad1 UTSW 4 141,649,634 (GRCm39) missense probably damaging 0.99
R1991:Fhad1 UTSW 4 141,709,473 (GRCm39) missense possibly damaging 0.75
R2060:Fhad1 UTSW 4 141,626,560 (GRCm39) missense probably benign 0.08
R2079:Fhad1 UTSW 4 141,718,513 (GRCm39) nonsense probably null
R2133:Fhad1 UTSW 4 141,655,711 (GRCm39) missense probably damaging 1.00
R2337:Fhad1 UTSW 4 141,649,655 (GRCm39) missense possibly damaging 0.84
R2843:Fhad1 UTSW 4 141,632,279 (GRCm39) missense probably benign 0.06
R2844:Fhad1 UTSW 4 141,632,279 (GRCm39) missense probably benign 0.06
R2845:Fhad1 UTSW 4 141,632,279 (GRCm39) missense probably benign 0.06
R2846:Fhad1 UTSW 4 141,632,279 (GRCm39) missense probably benign 0.06
R2866:Fhad1 UTSW 4 141,648,099 (GRCm39) missense probably benign 0.00
R3119:Fhad1 UTSW 4 141,645,618 (GRCm39) frame shift probably null
R3760:Fhad1 UTSW 4 141,637,124 (GRCm39) missense probably damaging 1.00
R4180:Fhad1 UTSW 4 141,712,854 (GRCm39) missense possibly damaging 0.69
R4466:Fhad1 UTSW 4 141,684,969 (GRCm39) missense probably damaging 1.00
R4627:Fhad1 UTSW 4 141,623,779 (GRCm39) missense possibly damaging 0.47
R4680:Fhad1 UTSW 4 141,738,858 (GRCm39) nonsense probably null
R4725:Fhad1 UTSW 4 141,655,689 (GRCm39) critical splice donor site probably null
R4755:Fhad1 UTSW 4 141,655,794 (GRCm39) missense probably damaging 1.00
R4831:Fhad1 UTSW 4 141,643,378 (GRCm39) splice site probably null
R4909:Fhad1 UTSW 4 141,712,822 (GRCm39) missense probably benign 0.01
R4968:Fhad1 UTSW 4 141,645,618 (GRCm39) missense probably damaging 1.00
R5004:Fhad1 UTSW 4 141,729,910 (GRCm39) critical splice acceptor site probably null
R5036:Fhad1 UTSW 4 141,648,052 (GRCm39) missense probably benign 0.03
R5048:Fhad1 UTSW 4 141,691,987 (GRCm39) critical splice acceptor site probably null
R5416:Fhad1 UTSW 4 141,646,113 (GRCm39) missense probably benign 0.39
R5504:Fhad1 UTSW 4 141,712,846 (GRCm39) missense probably benign
R5586:Fhad1 UTSW 4 141,632,442 (GRCm39) missense probably benign 0.44
R5692:Fhad1 UTSW 4 141,690,768 (GRCm39) missense probably benign 0.00
R5706:Fhad1 UTSW 4 141,681,427 (GRCm39) missense probably damaging 1.00
R5773:Fhad1 UTSW 4 141,656,881 (GRCm39) missense probably damaging 0.99
R5823:Fhad1 UTSW 4 141,682,617 (GRCm39) missense possibly damaging 0.84
R5833:Fhad1 UTSW 4 141,729,838 (GRCm39) missense probably damaging 1.00
R6170:Fhad1 UTSW 4 141,618,263 (GRCm39) nonsense probably null
R6286:Fhad1 UTSW 4 141,648,209 (GRCm39) missense probably damaging 1.00
R6610:Fhad1 UTSW 4 141,643,707 (GRCm39) missense possibly damaging 0.94
R6755:Fhad1 UTSW 4 141,691,915 (GRCm39) missense probably damaging 1.00
R7006:Fhad1 UTSW 4 141,645,602 (GRCm39) frame shift probably null
R7008:Fhad1 UTSW 4 141,645,602 (GRCm39) frame shift probably null
R7012:Fhad1 UTSW 4 141,645,602 (GRCm39) frame shift probably null
R7014:Fhad1 UTSW 4 141,645,602 (GRCm39) frame shift probably null
R7058:Fhad1 UTSW 4 141,645,602 (GRCm39) frame shift probably null
R7059:Fhad1 UTSW 4 141,645,602 (GRCm39) frame shift probably null
R7060:Fhad1 UTSW 4 141,645,602 (GRCm39) frame shift probably null
R7159:Fhad1 UTSW 4 141,678,927 (GRCm39) missense probably benign 0.01
R7472:Fhad1 UTSW 4 141,691,937 (GRCm39) missense probably benign
R7670:Fhad1 UTSW 4 141,678,802 (GRCm39) missense probably benign 0.01
R7694:Fhad1 UTSW 4 141,632,375 (GRCm39) missense probably benign 0.41
R7745:Fhad1 UTSW 4 141,618,250 (GRCm39) missense probably benign 0.00
R7848:Fhad1 UTSW 4 141,632,913 (GRCm39) missense probably benign 0.29
R7853:Fhad1 UTSW 4 141,637,134 (GRCm39) missense probably damaging 0.99
R7867:Fhad1 UTSW 4 141,632,902 (GRCm39) missense probably benign 0.00
R7925:Fhad1 UTSW 4 141,681,498 (GRCm39) missense probably damaging 0.97
R8089:Fhad1 UTSW 4 141,684,971 (GRCm39) missense probably damaging 1.00
R8123:Fhad1 UTSW 4 141,712,836 (GRCm39) missense probably benign 0.02
R8711:Fhad1 UTSW 4 141,684,924 (GRCm39) missense probably benign 0.25
R8751:Fhad1 UTSW 4 141,646,134 (GRCm39) missense probably benign 0.04
R8783:Fhad1 UTSW 4 141,636,403 (GRCm39) missense probably benign 0.02
R8858:Fhad1 UTSW 4 141,666,339 (GRCm39) missense possibly damaging 0.87
R8867:Fhad1 UTSW 4 141,656,885 (GRCm39) missense probably damaging 0.97
R8890:Fhad1 UTSW 4 141,656,902 (GRCm39) missense probably benign 0.01
R8982:Fhad1 UTSW 4 141,729,895 (GRCm39) missense probably damaging 1.00
R9004:Fhad1 UTSW 4 141,649,735 (GRCm39) splice site probably benign
R9021:Fhad1 UTSW 4 141,709,620 (GRCm39) missense probably damaging 0.97
R9190:Fhad1 UTSW 4 141,646,058 (GRCm39) critical splice donor site probably null
R9237:Fhad1 UTSW 4 141,632,483 (GRCm39) missense probably benign 0.11
R9614:Fhad1 UTSW 4 141,678,882 (GRCm39) missense possibly damaging 0.69
R9744:Fhad1 UTSW 4 141,637,124 (GRCm39) missense probably damaging 1.00
X0018:Fhad1 UTSW 4 141,678,927 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGTGGTGTCCTGAACACAAATATCTCC -3'
(R):5'- AAGCATCTGTGTGCCTGTCAGAC -3'

Sequencing Primer
(F):5'- ggcaagaaggatggctcaac -3'
(R):5'- TGTCACCCCTGCTGGAATG -3'
Posted On 2014-04-13