Incidental Mutation 'R7243:Fcho2'
ID 563381
Institutional Source Beutler Lab
Gene Symbol Fcho2
Ensembl Gene ENSMUSG00000041685
Gene Name FCH domain only 2
Synonyms 5832424M12Rik
MMRRC Submission 045307-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7243 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 98859911-98951957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98891724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 346 (D346G)
Ref Sequence ENSEMBL: ENSMUSP00000042959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040340] [ENSMUST00000099277] [ENSMUST00000109403] [ENSMUST00000179563] [ENSMUST00000224992]
AlphaFold Q3UQN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000040340
AA Change: D346G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: D346G

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 benign
Transcript: ENSMUST00000099277
SMART Domains Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685

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 possibly damaging
Transcript: ENSMUST00000109403
AA Change: D346G

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: D346G

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: D346G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: D346G

DomainStartEndE-ValueType
FCH 8 94 1.74e-19 SMART
low complexity region 341 351 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000224992
AA Change: D346G

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 G A 11: 69,781,297 (GRCm39) H103Y probably benign Het
Adamdec1 A G 14: 68,809,203 (GRCm39) M253T probably benign Het
Alox15 C A 11: 70,241,540 (GRCm39) G114C probably null Het
Aox3 G T 1: 58,177,466 (GRCm39) G227V unknown Het
Atp8a2 A T 14: 59,885,291 (GRCm39) N1144K probably benign Het
Cacna1c C T 6: 118,614,690 (GRCm39) probably null Het
Cog6 A T 3: 52,909,736 (GRCm39) W314R probably damaging Het
Col5a2 A G 1: 45,415,320 (GRCm39) I1473T probably benign Het
Csmd1 T A 8: 15,965,357 (GRCm39) D3218V probably damaging Het
Cyp3a11 A G 5: 145,795,613 (GRCm39) M446T probably damaging Het
Dhps A G 8: 85,801,567 (GRCm39) Y340C probably benign Het
Dnah7b A G 1: 46,122,914 (GRCm39) N108S probably benign Het
Dnajb1 C T 8: 84,337,393 (GRCm39) P323L probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 G T 9: 7,102,405 (GRCm39) T2665K possibly damaging Het
Etv1 C T 12: 38,907,045 (GRCm39) S349L probably benign Het
Fam171a1 A T 2: 3,119,653 (GRCm39) T21S probably benign Het
Fbh1 T A 2: 11,756,336 (GRCm39) T749S probably benign Het
Fcrl5 A G 3: 87,349,552 (GRCm39) H109R probably benign Het
Fstl1 A G 16: 37,647,088 (GRCm39) S153G probably benign Het
Fyb1 T C 15: 6,673,180 (GRCm39) F605L probably benign Het
Gcat T A 15: 78,921,063 (GRCm39) M363K possibly damaging Het
Gm10604 T C 4: 11,980,113 (GRCm39) T64A unknown Het
Grin2d A G 7: 45,515,552 (GRCm39) L147P probably damaging Het
Ift88 A T 14: 57,667,993 (GRCm39) probably null Het
Ighg1 A T 12: 113,294,066 (GRCm39) C26S Het
Ing2 A G 8: 48,127,574 (GRCm39) S48P probably damaging Het
Kat6a C T 8: 23,428,791 (GRCm39) T1382I probably benign Het
Kdm1a A G 4: 136,279,265 (GRCm39) V765A probably damaging Het
Klk1b26 T C 7: 43,665,691 (GRCm39) S168P not run Het
Klk1b26 A G 7: 43,666,337 (GRCm39) N260S probably damaging Het
Lama3 G A 18: 12,552,902 (GRCm39) G438D probably damaging Het
Larp6 T A 9: 60,620,569 (GRCm39) D27E probably benign Het
Lrba T A 3: 86,658,823 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,883 (GRCm39) probably null Het
Megf9 T C 4: 70,353,708 (GRCm39) E366G probably benign Het
Mob1b T A 5: 88,891,304 (GRCm39) D52E probably damaging Het
Ndufb3 A T 1: 58,630,282 (GRCm39) H11L unknown Het
Odc1 T G 12: 17,600,058 (GRCm39) Y407* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 A G 16: 29,405,814 (GRCm39) I126M probably benign Het
Or2t47 T C 11: 58,442,227 (GRCm39) I279M probably damaging Het
Or3a1b T A 11: 74,012,559 (GRCm39) V148E probably damaging Het
Or51a10 A G 7: 103,698,962 (GRCm39) Y200H probably damaging Het
Or51f5 A T 7: 102,430,865 (GRCm39) T61S probably benign Het
Pcca A G 14: 123,114,186 (GRCm39) H633R probably benign Het
Pcdhb22 A G 18: 37,653,685 (GRCm39) R461G probably benign Het
Pcf11 A T 7: 92,309,268 (GRCm39) D647E probably damaging Het
Plscr1l1 A G 9: 92,225,726 (GRCm39) Y16C probably damaging Het
Plxnd1 T A 6: 115,949,468 (GRCm39) I773F probably benign Het
Prl8a1 A T 13: 27,766,086 (GRCm39) L3Q probably damaging Het
Psg17 C A 7: 18,552,640 (GRCm39) G212C probably damaging Het
Ptbp2 G T 3: 119,546,761 (GRCm39) N40K possibly damaging Het
Ptprj T C 2: 90,276,765 (GRCm39) H1102R probably damaging Het
Rbfox3 T C 11: 118,404,100 (GRCm39) Y33C probably damaging Het
Ros1 T A 10: 51,999,477 (GRCm39) N1158Y probably damaging Het
Rpgrip1l T C 8: 91,996,751 (GRCm39) I710V probably benign Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Slc12a4 A T 8: 106,680,552 (GRCm39) M190K probably damaging Het
Slc22a20 G A 19: 6,021,599 (GRCm39) R468C probably damaging Het
Slc45a2 T A 15: 11,023,436 (GRCm39) Y347N possibly damaging Het
Slc4a10 A G 2: 62,134,206 (GRCm39) Y974C probably damaging Het
Snap47 A G 11: 59,319,548 (GRCm39) S197P probably benign Het
Snph T C 2: 151,436,173 (GRCm39) S252G probably damaging Het
Spns2 A T 11: 72,347,686 (GRCm39) W335R probably damaging Het
Thnsl1 A G 2: 21,217,658 (GRCm39) I471V probably damaging Het
Tmprss11f C A 5: 86,677,975 (GRCm39) G265C probably damaging Het
Tnn C T 1: 159,934,687 (GRCm39) R1242H probably benign Het
Tsc2 T C 17: 24,818,604 (GRCm39) R1412G probably benign Het
Tsc22d2 G T 3: 58,323,884 (GRCm39) V259F unknown Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wls A T 3: 159,615,402 (GRCm39) I306F possibly damaging Het
Zfp566 A G 7: 29,777,701 (GRCm39) V160A probably benign Het
Zfyve28 T C 5: 34,356,219 (GRCm39) T761A probably damaging Het
Zswim8 G A 14: 20,764,436 (GRCm39) R602Q probably 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
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
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'- GGTTCTATACACAGTACATATTGGC -3'
(R):5'- CTGTTCCCTAGAATATTCCAGATGTAG -3'

Sequencing Primer
(F):5'- CACAGTACATATTGGCTTATGTTCAG -3'
(R):5'- TCCAGATGTAGATGAAGAAGGTTTC -3'
Posted On 2019-06-26