Incidental Mutation 'R0066:Fchsd2'
ID 17003
Institutional Source Beutler Lab
Gene Symbol Fchsd2
Ensembl Gene ENSMUSG00000030691
Gene Name FCH and double SH3 domains 2
Synonyms Sh3md3
MMRRC Submission 038357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R0066 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 100757836-100933613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100927631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 691 (Y691C)
Ref Sequence ENSEMBL: ENSMUSP00000032931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032931] [ENSMUST00000098250] [ENSMUST00000207740]
AlphaFold Q3USJ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000032931
AA Change: Y691C

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: Y691C

DomainStartEndE-ValueType
Pfam:FCH 21 103 1.3e-22 PFAM
coiled coil region 379 421 N/A INTRINSIC
low complexity region 466 474 N/A INTRINSIC
SH3 496 553 2.39e-14 SMART
low complexity region 554 569 N/A INTRINSIC
SH3 594 652 1.22e-20 SMART
low complexity region 676 695 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098250
AA Change: Y667C

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: Y667C

DomainStartEndE-ValueType
Pfam:FCH 12 108 3.6e-23 PFAM
coiled coil region 355 397 N/A INTRINSIC
low complexity region 442 450 N/A INTRINSIC
SH3 472 529 2.39e-14 SMART
low complexity region 530 545 N/A INTRINSIC
SH3 570 628 1.22e-20 SMART
low complexity region 652 671 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207740
Meta Mutation Damage Score 0.1235 question?
Coding Region Coverage
  • 1x: 89.0%
  • 3x: 85.6%
  • 10x: 75.4%
  • 20x: 57.8%
Validation Efficiency 94% (112/119)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik A G 9: 22,119,177 (GRCm39) noncoding transcript Het
Aco2 T C 15: 81,787,666 (GRCm39) probably benign Het
Arsa T A 15: 89,358,539 (GRCm39) M288L possibly damaging Het
Atg2b A T 12: 105,614,708 (GRCm39) D1074E probably benign Het
Baiap2l1 A T 5: 144,221,372 (GRCm39) I174N probably damaging Het
Bptf A G 11: 106,952,962 (GRCm39) V199A possibly damaging Het
Btn2a2 T A 13: 23,662,655 (GRCm39) I432L probably benign Het
Ccdc150 A G 1: 54,395,850 (GRCm39) I778V probably benign Het
Cd200r2 G A 16: 44,730,037 (GRCm39) V194I possibly damaging Het
Cep350 A C 1: 155,786,964 (GRCm39) L1421R probably damaging Het
Col6a6 A T 9: 105,579,412 (GRCm39) C1938S probably damaging Het
Cspg4 A T 9: 56,795,418 (GRCm39) D1051V probably damaging Het
Cstf1 T A 2: 172,214,976 (GRCm39) N32K probably benign Het
Ctrb1 G A 8: 112,413,269 (GRCm39) R248* probably null Het
Cyp2d11 T A 15: 82,275,958 (GRCm39) M208L probably benign Het
Dbt A G 3: 116,337,478 (GRCm39) Q334R probably benign Het
Dcaf12 A G 4: 41,298,338 (GRCm39) V270A probably damaging Het
Dis3l T A 9: 64,226,447 (GRCm39) N361I probably benign Het
Dnm3 A G 1: 162,234,930 (GRCm39) V70A probably damaging Het
Dpy19l2 G A 9: 24,557,679 (GRCm39) probably benign Het
Dst C A 1: 34,228,634 (GRCm39) H2254N possibly damaging Het
Eif2b1 T G 5: 124,711,858 (GRCm39) probably null Het
Epm2aip1 A G 9: 111,101,531 (GRCm39) N168S probably benign Het
Fndc8 A T 11: 82,788,398 (GRCm39) D76V probably benign Het
Frmd4a T C 2: 4,477,963 (GRCm39) L48P probably damaging Het
Gimap6 T A 6: 48,679,404 (GRCm39) I211F probably damaging Het
Gm15130 A G 2: 110,969,284 (GRCm39) probably benign Het
Gm19618 A T 6: 87,691,227 (GRCm39) Het
Gpatch1 G A 7: 34,986,652 (GRCm39) S768L probably damaging Het
Grb14 T G 2: 64,768,836 (GRCm39) probably null Het
Hnrnpd T C 5: 100,112,560 (GRCm39) E222G probably damaging Het
Ighv1-4 A G 12: 114,450,989 (GRCm39) S40P possibly damaging Het
Kcnh4 T C 11: 100,648,626 (GRCm39) H26R probably benign Het
Kctd2 T G 11: 115,320,343 (GRCm39) probably benign Het
Macf1 G A 4: 123,325,943 (GRCm39) Q3066* probably null Het
Mfn2 G A 4: 147,969,902 (GRCm39) probably benign Het
Mmab T C 5: 114,574,526 (GRCm39) probably benign Het
Mrc1 T C 2: 14,266,011 (GRCm39) S310P probably benign Het
Mrps21 T C 3: 95,770,197 (GRCm39) Y44C probably null Het
Myh10 T A 11: 68,590,317 (GRCm39) F121Y probably damaging Het
Myo1f A G 17: 33,820,677 (GRCm39) D840G probably damaging Het
Nol6 G T 4: 41,119,572 (GRCm39) probably benign Het
Ntsr2 T C 12: 16,704,120 (GRCm39) I207T probably benign Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Or11j4 T A 14: 50,630,659 (GRCm39) F149I probably benign Het
Pkd1l3 G T 8: 110,347,103 (GRCm39) G159C unknown Het
Plcb4 T C 2: 135,803,689 (GRCm39) S521P probably benign Het
Plcl1 A T 1: 55,752,634 (GRCm39) I993F probably damaging Het
Plekha7 T C 7: 115,756,743 (GRCm39) S640G probably damaging Het
Ptprn2 A C 12: 117,240,222 (GRCm39) N993T probably benign Het
Reck A G 4: 43,930,936 (GRCm39) N646D probably damaging Het
Rfx2 A T 17: 57,093,736 (GRCm39) probably benign Het
Ripk2 G A 4: 16,123,868 (GRCm39) Q436* probably null Het
Ryr1 C T 7: 28,704,992 (GRCm39) probably benign Het
Sema6b A G 17: 56,435,271 (GRCm39) V324A possibly damaging Het
Sik2 C A 9: 50,909,833 (GRCm39) M73I probably benign Het
Slc39a6 T C 18: 24,732,326 (GRCm39) K321E probably damaging Het
Slc7a4 C A 16: 17,391,875 (GRCm39) V520F probably benign Het
Sptan1 C A 2: 29,893,679 (GRCm39) probably benign Het
Stab1 C T 14: 30,879,027 (GRCm39) probably benign Het
Tbc1d17 C T 7: 44,493,495 (GRCm39) probably benign Het
Tbcd T A 11: 121,394,590 (GRCm39) L49* probably null Het
Tulp4 A T 17: 6,252,008 (GRCm39) N60I probably damaging Het
Ubqlnl A T 7: 103,798,145 (GRCm39) W451R probably damaging Het
Usp53 G T 3: 122,746,956 (GRCm39) C363* probably null Het
Utp4 A G 8: 107,649,530 (GRCm39) T660A possibly damaging Het
Vmn1r194 A T 13: 22,428,641 (GRCm39) Y86F probably benign Het
Vmn1r195 A T 13: 22,463,409 (GRCm39) H293L possibly damaging Het
Vmn1r231 T C 17: 21,109,998 (GRCm39) R306G probably benign Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Vps8 A G 16: 21,296,273 (GRCm39) E515G possibly damaging Het
Wdr18 C A 10: 79,796,937 (GRCm39) Y104* probably null Het
Xab2 A T 8: 3,663,880 (GRCm39) N346K probably damaging Het
Zdhhc12 C T 2: 29,982,547 (GRCm39) R50H probably damaging Het
Zdhhc8 A G 16: 18,043,064 (GRCm39) S379P probably benign Het
Other mutations in Fchsd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Fchsd2 APN 7 100,920,829 (GRCm39) missense probably benign 0.26
IGL00910:Fchsd2 APN 7 100,926,833 (GRCm39) missense probably benign 0.00
IGL02065:Fchsd2 APN 7 100,826,429 (GRCm39) critical splice donor site probably null
IGL02545:Fchsd2 APN 7 100,847,715 (GRCm39) missense probably benign
IGL02651:Fchsd2 APN 7 100,926,807 (GRCm39) missense possibly damaging 0.60
IGL03286:Fchsd2 APN 7 100,908,982 (GRCm39) critical splice donor site probably null
IGL03333:Fchsd2 APN 7 100,847,703 (GRCm39) missense probably damaging 0.97
R0066:Fchsd2 UTSW 7 100,927,631 (GRCm39) missense possibly damaging 0.60
R0668:Fchsd2 UTSW 7 100,846,127 (GRCm39) missense possibly damaging 0.63
R1281:Fchsd2 UTSW 7 100,902,759 (GRCm39) missense possibly damaging 0.92
R1868:Fchsd2 UTSW 7 100,899,645 (GRCm39) splice site probably benign
R1996:Fchsd2 UTSW 7 100,927,660 (GRCm39) missense probably benign 0.00
R2024:Fchsd2 UTSW 7 100,847,740 (GRCm39) missense possibly damaging 0.81
R2060:Fchsd2 UTSW 7 100,926,624 (GRCm39) missense probably benign
R2243:Fchsd2 UTSW 7 100,883,092 (GRCm39) missense probably benign 0.30
R3419:Fchsd2 UTSW 7 100,927,867 (GRCm39) splice site probably null
R3898:Fchsd2 UTSW 7 100,841,006 (GRCm39) missense possibly damaging 0.90
R3899:Fchsd2 UTSW 7 100,841,006 (GRCm39) missense possibly damaging 0.90
R3900:Fchsd2 UTSW 7 100,841,006 (GRCm39) missense possibly damaging 0.90
R4496:Fchsd2 UTSW 7 100,931,702 (GRCm39) missense probably benign 0.09
R4569:Fchsd2 UTSW 7 100,926,809 (GRCm39) missense possibly damaging 0.60
R4667:Fchsd2 UTSW 7 100,899,656 (GRCm39) missense probably damaging 1.00
R5408:Fchsd2 UTSW 7 100,920,781 (GRCm39) missense possibly damaging 0.82
R5449:Fchsd2 UTSW 7 100,926,731 (GRCm39) missense probably damaging 1.00
R5543:Fchsd2 UTSW 7 100,920,906 (GRCm39) missense probably damaging 1.00
R5665:Fchsd2 UTSW 7 100,759,991 (GRCm39) missense possibly damaging 0.50
R5894:Fchsd2 UTSW 7 100,840,959 (GRCm39) missense probably benign 0.08
R5936:Fchsd2 UTSW 7 100,840,908 (GRCm39) missense probably damaging 1.00
R6243:Fchsd2 UTSW 7 100,921,016 (GRCm39) critical splice acceptor site probably benign
R6244:Fchsd2 UTSW 7 100,908,983 (GRCm39) splice site probably null
R6247:Fchsd2 UTSW 7 100,902,747 (GRCm39) missense probably benign
R6932:Fchsd2 UTSW 7 100,926,621 (GRCm39) nonsense probably null
R7250:Fchsd2 UTSW 7 100,908,892 (GRCm39) missense possibly damaging 0.61
R7418:Fchsd2 UTSW 7 100,920,831 (GRCm39) missense possibly damaging 0.56
R7469:Fchsd2 UTSW 7 100,927,863 (GRCm39) critical splice donor site probably null
R7522:Fchsd2 UTSW 7 100,908,829 (GRCm39) nonsense probably null
R7921:Fchsd2 UTSW 7 100,899,749 (GRCm39) missense probably benign 0.00
R8209:Fchsd2 UTSW 7 100,931,679 (GRCm39) missense probably damaging 1.00
R8226:Fchsd2 UTSW 7 100,931,679 (GRCm39) missense probably damaging 1.00
R8285:Fchsd2 UTSW 7 100,883,128 (GRCm39) missense possibly damaging 0.56
R8400:Fchsd2 UTSW 7 100,902,780 (GRCm39) missense possibly damaging 0.78
R9561:Fchsd2 UTSW 7 100,920,778 (GRCm39) missense probably benign 0.22
R9794:Fchsd2 UTSW 7 100,893,410 (GRCm39) missense probably benign 0.09
X0028:Fchsd2 UTSW 7 100,760,011 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-20