Incidental Mutation 'R4496:Fchsd2'
ID 330977
Institutional Source Beutler Lab
Gene Symbol Fchsd2
Ensembl Gene ENSMUSG00000030691
Gene Name FCH and double SH3 domains 2
Synonyms Sh3md3
MMRRC Submission 041749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R4496 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100757836-100933613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100931702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 753 (T753P)
Ref Sequence ENSEMBL: ENSMUSP00000032931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032931] [ENSMUST00000098250] [ENSMUST00000120267] [ENSMUST00000207740]
AlphaFold Q3USJ8
Predicted Effect probably benign
Transcript: ENSMUST00000032931
AA Change: T753P

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: T753P

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: T729P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: T729P

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: ENSMUST00000120267
SMART Domains Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 20 211 2.3e-36 PFAM
WD40 329 368 1.13e-7 SMART
WD40 373 412 6.79e-2 SMART
WD40 415 454 1.08e-4 SMART
WD40 457 493 2.97e0 SMART
WD40 496 534 1.61e-3 SMART
WD40 539 580 1.66e0 SMART
WD40 583 623 2.8e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207740
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,602,947 (GRCm39) L514H possibly damaging Het
Abca7 T C 10: 79,838,768 (GRCm39) F647S probably damaging Het
Ahi1 A G 10: 20,841,444 (GRCm39) K244E probably benign Het
Ankhd1 G A 18: 36,693,839 (GRCm39) D17N probably damaging Het
Arvcf G T 16: 18,223,932 (GRCm39) K890N probably damaging Het
Atosa T A 9: 74,938,813 (GRCm39) S1038T probably damaging Het
Atp11c T C X: 59,326,104 (GRCm39) D478G probably damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Clca3a2 C T 3: 144,797,926 (GRCm39) D180N possibly damaging Het
Comt T C 16: 18,230,437 (GRCm39) probably null Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Cyp2d11 C T 15: 82,276,149 (GRCm39) probably benign Het
Fam169b G T 7: 68,007,954 (GRCm39) C289F possibly damaging Het
Fastkd5 T C 2: 130,458,501 (GRCm39) T30A probably benign Het
Gatd3a T C 10: 77,999,377 (GRCm39) I145V probably damaging Het
Glis3 G A 19: 28,643,527 (GRCm39) S5L possibly damaging Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Gpt A T 15: 76,582,663 (GRCm39) Q276L probably damaging Het
Gtf3c3 G T 1: 54,463,291 (GRCm39) S302R probably benign Het
Hnrnpc A G 14: 52,312,888 (GRCm39) S229P probably benign Het
Ikzf5 T C 7: 130,998,393 (GRCm39) probably null Het
Mal2 T C 15: 54,461,835 (GRCm39) V110A probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo3b A G 2: 70,084,748 (GRCm39) D702G probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nat10 T A 2: 103,588,084 (GRCm39) I14F probably damaging Het
Nat14 C T 7: 4,926,918 (GRCm39) T30M probably damaging Het
Ndst4 C A 3: 125,476,922 (GRCm39) A49D probably damaging Het
Nnt A T 13: 119,518,301 (GRCm39) M292K probably damaging Het
Obox7 C T 7: 14,399,299 (GRCm39) T175I probably benign Het
Or2t26 T A 11: 49,039,214 (GRCm39) N43K possibly damaging Het
Or6c5c T G 10: 129,299,430 (GRCm39) V295G possibly damaging Het
Plekhm3 T C 1: 64,900,395 (GRCm39) E634G probably damaging Het
Plxdc2 T A 2: 16,517,040 (GRCm39) I107K probably damaging Het
Psmb10 T A 8: 106,662,660 (GRCm39) R226S probably damaging Het
Ptprr T A 10: 116,065,407 (GRCm39) V160E possibly damaging Het
Sema5a T A 15: 32,641,133 (GRCm39) L649H probably damaging Het
Sephs1 T A 2: 4,911,494 (GRCm39) I356K probably benign Het
Serpinb3d C T 1: 107,007,022 (GRCm39) V229M probably damaging Het
Slc7a4 T C 16: 17,393,676 (GRCm39) D41G probably damaging Het
Sort1 T C 3: 108,217,461 (GRCm39) V121A probably benign Het
Tcf20 C A 15: 82,739,185 (GRCm39) Q755H probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttll13 A T 7: 79,906,667 (GRCm39) Y445F probably benign Het
Usp40 T C 1: 87,923,459 (GRCm39) I271V possibly damaging Het
Vmn1r72 A G 7: 11,403,791 (GRCm39) I219T probably 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
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
Predicted Primers PCR Primer
(F):5'- AGGGCAGTGAACACATTCCC -3'
(R):5'- ACCCGCTATGATTTGTGCTATGG -3'

Sequencing Primer
(F):5'- GTGAACACATTCCCAGGCC -3'
(R):5'- TGTGCTATGGTAGGAGAGATGAC -3'
Posted On 2015-07-21