Incidental Mutation 'R5408:Fchsd2'
ID 426390
Institutional Source Beutler Lab
Gene Symbol Fchsd2
Ensembl Gene ENSMUSG00000030691
Gene Name FCH and double SH3 domains 2
Synonyms Sh3md3
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100757836-100933613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100920781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 462 (N462S)
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: N462S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: N462S

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: N438S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: N438S

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 0.0579 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCCAGCCTGGTGTTTTACT -3'
(R):5'- GAGTTGTCACAATTTACTATCAGCAA -3'

Sequencing Primer
(F):5'- GTCTCACTATGTAGCCCGTAAATGG -3'
(R):5'- GCAAAATATAGGGGAGATACAAACC -3'
Posted On 2016-09-01