Incidental Mutation 'R3117:Fcho2'
ID 263106
Institutional Source Beutler Lab
Gene Symbol Fcho2
Ensembl Gene ENSMUSG00000041685
Gene Name FCH domain only 2
Synonyms 5832424M12Rik
MMRRC Submission 040590-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3117 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 98859911-98951957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 98913946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 217 (I217S)
Ref Sequence ENSEMBL: ENSMUSP00000096883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040340] [ENSMUST00000099277] [ENSMUST00000109403] [ENSMUST00000179563] [ENSMUST00000224992] [ENSMUST00000225840]
AlphaFold Q3UQN2
Predicted Effect probably damaging
Transcript: ENSMUST00000040340
AA Change: I217S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: I217S

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 probably damaging
Transcript: ENSMUST00000099277
AA Change: I217S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: I217S

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 damaging
Transcript: ENSMUST00000109403
AA Change: I217S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: I217S

DomainStartEndE-ValueType
FCH 8 94 1.74e-19 SMART
low complexity region 341 351 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179563
AA Change: I217S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: I217S

DomainStartEndE-ValueType
FCH 8 94 1.74e-19 SMART
low complexity region 341 351 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224231
Predicted Effect probably damaging
Transcript: ENSMUST00000224992
AA Change: I217S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000225840
AA Change: I217S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225094
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T C 9: 39,504,656 (GRCm39) T532A probably benign Het
Dglucy A G 12: 100,804,937 (GRCm39) S143G probably benign Het
Dlec1 G A 9: 118,972,971 (GRCm39) probably null Het
Filip1l T C 16: 57,327,095 (GRCm39) S42P probably benign Het
Fras1 G A 5: 96,919,571 (GRCm39) A3595T probably damaging Het
Hacd3 G T 9: 64,905,591 (GRCm39) D182E probably damaging Het
Hsfy2 C G 1: 56,676,265 (GRCm39) D91H probably damaging Het
Man1a T A 10: 53,906,890 (GRCm39) M295L probably damaging Het
Mkrn3 CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA CGGCATTGGCACTGGCATTGGCA 7: 62,068,962 (GRCm39) probably benign Het
Mlc1 T C 15: 88,860,731 (GRCm39) D93G probably damaging Het
Myo5c G A 9: 75,173,476 (GRCm39) probably null Het
Nlrc4 T C 17: 74,743,063 (GRCm39) I852V probably benign Het
Notch3 C T 17: 32,377,089 (GRCm39) C272Y probably damaging Het
Or7g35 A T 9: 19,496,237 (GRCm39) I135F probably damaging Het
Ovgp1 T C 3: 105,893,768 (GRCm39) probably benign Het
Pbld2 A G 10: 62,890,215 (GRCm39) T208A probably benign Het
Prpf39 T C 12: 65,104,651 (GRCm39) V572A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ttc3 G A 16: 94,243,422 (GRCm39) R1142Q possibly damaging Het
Ttc41 T C 10: 86,560,184 (GRCm39) M369T possibly damaging Het
Vwa3b G A 1: 37,148,158 (GRCm39) V437I possibly damaging 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
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
R7533:Fcho2 UTSW 13 98,921,307 (GRCm39) missense probably benign 0.00
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'- TGATGAGATCTAGTGCCCTCTTATG -3'
(R):5'- AAACACTGTTATCTTATGGGTCTCC -3'

Sequencing Primer
(F):5'- CCTCTTATGGCCTGCAGG -3'
(R):5'- AGACTCTGGAAAAGTTTATATTTGCC -3'
Posted On 2015-02-05