Incidental Mutation 'R7533:Fcho2'
ID 583427
Institutional Source Beutler Lab
Gene Symbol Fcho2
Ensembl Gene ENSMUSG00000041685
Gene Name FCH domain only 2
Synonyms 5832424M12Rik
MMRRC Submission 045605-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7533 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 98859911-98951957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98921307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 193 (Q193K)
Ref Sequence ENSEMBL: ENSMUSP00000042959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040340] [ENSMUST00000099277] [ENSMUST00000109403] [ENSMUST00000179563] [ENSMUST00000224992] [ENSMUST00000225840]
AlphaFold Q3UQN2
Predicted Effect probably benign
Transcript: ENSMUST00000040340
AA Change: Q193K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: Q193K

DomainStartEndE-ValueType
FCH 8 94 1.74e-19 SMART
low complexity region 341 351 N/A INTRINSIC
low complexity region 433 456 N/A INTRINSIC
low complexity region 485 501 N/A INTRINSIC
low complexity region 503 520 N/A INTRINSIC
Pfam:muHD 542 808 2.5e-71 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: Q193K

DomainStartEndE-ValueType
FCH 8 94 1.74e-19 SMART
low complexity region 342 352 N/A INTRINSIC
low complexity region 434 457 N/A INTRINSIC
low complexity region 486 502 N/A INTRINSIC
low complexity region 504 521 N/A INTRINSIC
Pfam:muHD 543 803 4.7e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109403
AA Change: Q193K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: Q193K

DomainStartEndE-ValueType
FCH 8 94 1.74e-19 SMART
low complexity region 341 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179563
AA Change: Q193K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: Q193K

DomainStartEndE-ValueType
FCH 8 94 1.74e-19 SMART
low complexity region 341 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224992
AA Change: Q193K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225840
AA Change: Q193K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0664 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agr2 T C 12: 36,046,128 (GRCm39) probably null Het
Alpk2 A T 18: 65,437,674 (GRCm39) S1240T probably damaging Het
Atp8b2 G A 3: 89,852,831 (GRCm39) L144F Het
Cck T C 9: 121,319,201 (GRCm39) D94G probably damaging Het
Ccser1 A T 6: 61,615,474 (GRCm39) T659S probably benign Het
Cfap74 C A 4: 155,500,200 (GRCm39) D15E Het
Commd5 G A 15: 76,784,776 (GRCm39) A58T probably benign Het
Dctn2 A G 10: 127,103,347 (GRCm39) D34G possibly damaging Het
Ecpas T C 4: 58,809,411 (GRCm39) I1654M probably benign Het
Epha6 T C 16: 60,025,925 (GRCm39) T506A probably damaging Het
Fat4 A C 3: 39,061,406 (GRCm39) I4330L probably benign Het
Hace1 A T 10: 45,587,570 (GRCm39) I890L probably benign Het
Igsf11 T G 16: 38,829,236 (GRCm39) N102K probably benign Het
Il7r G A 15: 9,508,047 (GRCm39) S425L probably benign Het
Itga3 G T 11: 94,937,344 (GRCm39) Q1011K probably benign Het
Kif3c T A 12: 3,416,510 (GRCm39) I177N probably damaging Het
Neb G A 2: 52,114,578 (GRCm39) A1048V Het
Neu4 C T 1: 93,950,122 (GRCm39) T27M probably benign Het
Or52b3 T C 7: 102,203,718 (GRCm39) S76P probably damaging Het
P4htm T C 9: 108,474,136 (GRCm39) H134R probably benign Het
Padi6 T C 4: 140,458,506 (GRCm39) D462G probably damaging Het
Pi4ka T C 16: 17,115,525 (GRCm39) D1375G Het
Ptgr1 C T 4: 58,971,011 (GRCm39) R247H possibly damaging Het
Rad50 T C 11: 53,589,746 (GRCm39) N152D probably damaging Het
Serpina1c T A 12: 103,863,566 (GRCm39) K211N probably damaging Het
Sgsh T C 11: 119,238,696 (GRCm39) E256G probably damaging Het
Tnrc6b T C 15: 80,811,942 (GRCm39) probably null Het
Ube3d A G 9: 86,304,990 (GRCm39) F284S probably damaging Het
Usp13 A G 3: 32,973,091 (GRCm39) D757G probably damaging Het
Vmn1r173 C T 7: 23,402,071 (GRCm39) A102V probably benign Het
Vmn2r29 G T 7: 7,244,656 (GRCm39) A406D probably damaging Het
Wdfy3 G A 5: 102,030,354 (GRCm39) R2385C probably benign Het
Zfp112 A T 7: 23,824,752 (GRCm39) K244M possibly damaging Het
Zfp61 T C 7: 23,990,504 (GRCm39) Q549R probably benign Het
Other mutations in Fcho2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Fcho2 APN 13 98,926,315 (GRCm39) missense probably benign
IGL02058:Fcho2 APN 13 98,867,414 (GRCm39) missense probably damaging 0.98
IGL02516:Fcho2 APN 13 98,866,720 (GRCm39) missense probably benign 0.08
IGL02715:Fcho2 APN 13 98,932,843 (GRCm39) missense probably damaging 1.00
IGL03243:Fcho2 APN 13 98,913,892 (GRCm39) splice site probably benign
R0044:Fcho2 UTSW 13 98,892,052 (GRCm39) intron probably benign
R0087:Fcho2 UTSW 13 98,871,594 (GRCm39) missense probably benign 0.00
R0472:Fcho2 UTSW 13 98,884,775 (GRCm39) missense probably benign 0.01
R0501:Fcho2 UTSW 13 98,901,023 (GRCm39) missense possibly damaging 0.92
R1022:Fcho2 UTSW 13 98,869,167 (GRCm39) missense probably damaging 1.00
R1024:Fcho2 UTSW 13 98,869,167 (GRCm39) missense probably damaging 1.00
R1130:Fcho2 UTSW 13 98,884,797 (GRCm39) missense probably damaging 1.00
R1495:Fcho2 UTSW 13 98,886,358 (GRCm39) critical splice donor site probably null
R1593:Fcho2 UTSW 13 98,921,315 (GRCm39) missense possibly damaging 0.92
R1608:Fcho2 UTSW 13 98,862,706 (GRCm39) missense probably benign 0.01
R1638:Fcho2 UTSW 13 98,882,403 (GRCm39) missense possibly damaging 0.83
R1643:Fcho2 UTSW 13 98,921,324 (GRCm39) missense probably benign 0.00
R2125:Fcho2 UTSW 13 98,912,406 (GRCm39) missense possibly damaging 0.83
R3117:Fcho2 UTSW 13 98,913,946 (GRCm39) missense probably damaging 1.00
R3968:Fcho2 UTSW 13 98,871,564 (GRCm39) missense probably benign 0.06
R3970:Fcho2 UTSW 13 98,871,564 (GRCm39) missense probably benign 0.06
R4079:Fcho2 UTSW 13 98,892,120 (GRCm39) missense probably damaging 0.99
R4816:Fcho2 UTSW 13 98,942,874 (GRCm39) missense probably damaging 1.00
R5338:Fcho2 UTSW 13 98,867,399 (GRCm39) missense probably damaging 1.00
R5437:Fcho2 UTSW 13 98,913,982 (GRCm39) missense possibly damaging 0.95
R5457:Fcho2 UTSW 13 98,926,275 (GRCm39) missense probably damaging 0.99
R5733:Fcho2 UTSW 13 98,926,310 (GRCm39) missense probably damaging 0.99
R6136:Fcho2 UTSW 13 98,926,275 (GRCm39) missense probably damaging 0.99
R6186:Fcho2 UTSW 13 98,951,591 (GRCm39) missense probably benign 0.01
R6365:Fcho2 UTSW 13 98,926,367 (GRCm39) missense probably benign 0.20
R7041:Fcho2 UTSW 13 98,921,334 (GRCm39) missense possibly damaging 0.72
R7168:Fcho2 UTSW 13 98,925,971 (GRCm39) missense probably benign
R7218:Fcho2 UTSW 13 98,890,121 (GRCm39) splice site probably null
R7243:Fcho2 UTSW 13 98,891,724 (GRCm39) missense possibly damaging 0.94
R7757:Fcho2 UTSW 13 98,901,011 (GRCm39) critical splice donor site probably null
R7904:Fcho2 UTSW 13 98,932,871 (GRCm39) missense possibly damaging 0.54
R7993:Fcho2 UTSW 13 98,888,524 (GRCm39) splice site probably null
R8004:Fcho2 UTSW 13 98,926,013 (GRCm39) missense possibly damaging 0.80
R8358:Fcho2 UTSW 13 98,862,282 (GRCm39) nonsense probably null
R8512:Fcho2 UTSW 13 98,891,730 (GRCm39) missense possibly damaging 0.69
R8692:Fcho2 UTSW 13 98,882,382 (GRCm39) frame shift probably null
R8792:Fcho2 UTSW 13 98,951,769 (GRCm39) unclassified probably benign
R8954:Fcho2 UTSW 13 98,913,985 (GRCm39) missense probably benign 0.05
R8969:Fcho2 UTSW 13 98,891,604 (GRCm39) nonsense probably null
R9091:Fcho2 UTSW 13 98,925,869 (GRCm39) critical splice donor site probably null
R9092:Fcho2 UTSW 13 98,886,391 (GRCm39) missense probably benign 0.01
R9171:Fcho2 UTSW 13 98,891,607 (GRCm39) missense probably benign
R9270:Fcho2 UTSW 13 98,925,869 (GRCm39) critical splice donor site probably null
R9668:Fcho2 UTSW 13 98,913,965 (GRCm39) missense probably benign 0.12
R9672:Fcho2 UTSW 13 98,869,178 (GRCm39) nonsense probably null
R9717:Fcho2 UTSW 13 98,900,202 (GRCm39) missense probably damaging 1.00
X0018:Fcho2 UTSW 13 98,868,590 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCGCACTCTGCCATGTTG -3'
(R):5'- AGAGTCCATGTTTGATTCCTGAG -3'

Sequencing Primer
(F):5'- TTGGCCTCCACCTCCCAAAC -3'
(R):5'- ACTCTGCTGTCAAGAGATCTGATGC -3'
Posted On 2019-10-17