Incidental Mutation 'IGL01397:Washc2'
ID79517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Washc2
Ensembl Gene ENSMUSG00000024104
Gene NameWASH complex subunit 2`
SynonymsFam21, D6Wsu116e, C530005J20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01397
Quality Score
Status
Chromosome6
Chromosomal Location116208038-116262686 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116247998 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 683 (D683G)
Ref Sequence ENSEMBL: ENSMUSP00000144703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036759] [ENSMUST00000204283] [ENSMUST00000204476]
Predicted Effect probably benign
Transcript: ENSMUST00000036759
AA Change: D769G

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D769G

DomainStartEndE-ValueType
coiled coil region 95 129 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
low complexity region 262 276 N/A INTRINSIC
low complexity region 443 455 N/A INTRINSIC
low complexity region 531 561 N/A INTRINSIC
low complexity region 660 668 N/A INTRINSIC
low complexity region 801 810 N/A INTRINSIC
Pfam:CAP-ZIP_m 939 1074 4.3e-58 PFAM
low complexity region 1268 1282 N/A INTRINSIC
low complexity region 1297 1317 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203802
Predicted Effect probably benign
Transcript: ENSMUST00000204283
AA Change: D683G

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: D683G

DomainStartEndE-ValueType
coiled coil region 9 43 N/A INTRINSIC
low complexity region 110 127 N/A INTRINSIC
low complexity region 130 152 N/A INTRINSIC
low complexity region 176 190 N/A INTRINSIC
low complexity region 357 369 N/A INTRINSIC
low complexity region 445 475 N/A INTRINSIC
low complexity region 574 582 N/A INTRINSIC
low complexity region 715 724 N/A INTRINSIC
Pfam:CAP-ZIP_m 853 988 2.8e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204476
AA Change: D769G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: D769G

DomainStartEndE-ValueType
coiled coil region 95 129 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
low complexity region 262 276 N/A INTRINSIC
low complexity region 443 455 N/A INTRINSIC
low complexity region 531 561 N/A INTRINSIC
low complexity region 660 668 N/A INTRINSIC
low complexity region 801 810 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 128,034,891 T436P possibly damaging Het
Afap1 T A 5: 35,968,708 V349E probably damaging Het
Arfgef1 C T 1: 10,159,571 V1302I probably benign Het
Atp11a T A 8: 12,812,321 W58R probably damaging Het
Brpf3 A T 17: 28,817,632 K670N probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cenpp T C 13: 49,641,283 D136G probably damaging Het
Cep85 T C 4: 134,156,206 E124G probably damaging Het
Crybb3 T C 5: 113,079,835 E40G probably damaging Het
Dennd2d G T 3: 106,487,049 probably null Het
Dhx34 A G 7: 16,210,543 L582P probably damaging Het
Dst A G 1: 34,257,744 K5738R probably damaging Het
Eif4g1 T A 16: 20,679,675 L328Q probably damaging Het
Eya4 T C 10: 23,139,999 K357E probably benign Het
F8 A G X: 75,379,539 S25P probably benign Het
Fam122b G A X: 53,260,211 T121I probably damaging Het
Fgd2 A G 17: 29,367,975 E293G probably damaging Het
Foxi1 T A 11: 34,207,599 Q142L probably damaging Het
Gfm1 A G 3: 67,443,658 E316G probably benign Het
Glb1l3 C T 9: 26,825,195 D524N probably benign Het
Heatr5a A T 12: 51,894,369 V1366D possibly damaging Het
Idh1 T C 1: 65,168,595 T142A possibly damaging Het
Lamc1 C A 1: 153,251,134 G422V probably damaging Het
Lars A T 18: 42,228,029 H691Q probably damaging Het
Ltbp2 T C 12: 84,790,268 Y1259C probably damaging Het
Muc19 T A 15: 91,894,304 noncoding transcript Het
Nphs1 A G 7: 30,486,664 D1240G probably benign Het
Olfr1134 A T 2: 87,656,905 N5K probably damaging Het
Olfr401 T A 11: 74,121,764 N158K probably damaging Het
Parp14 T C 16: 35,858,728 N290S probably benign Het
Pex5l G A 3: 32,952,597 T541I probably damaging Het
Plch1 A C 3: 63,731,729 probably null Het
Ppp4r3b C T 11: 29,213,594 A722V probably benign Het
Ptges3 T C 10: 128,070,200 S85P probably benign Het
R3hdm2 C T 10: 127,458,850 R201W probably damaging Het
Rcan2 C A 17: 43,836,468 Q66K possibly damaging Het
Skint4 A G 4: 112,120,010 N199S possibly damaging Het
Smc4 A G 3: 69,031,544 T951A probably benign Het
Smg1 A T 7: 118,163,221 probably benign Het
Snx30 T C 4: 59,894,526 V368A probably benign Het
Spata31d1a C T 13: 59,701,738 A859T probably damaging Het
Tg G A 15: 66,696,092 probably benign Het
Tmem132b T C 5: 125,698,728 V422A probably benign Het
Tnxb T C 17: 34,714,673 S2356P probably damaging Het
Vmn1r122 A G 7: 21,133,782 V116A possibly damaging Het
Wdr35 C A 12: 9,008,550 T580K probably benign Het
Wwc2 T A 8: 47,868,276 N601I unknown Het
Other mutations in Washc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Washc2 APN 6 116256676 missense probably benign
IGL00552:Washc2 APN 6 116256824 missense possibly damaging 0.85
IGL01668:Washc2 APN 6 116262338 missense probably damaging 1.00
IGL01982:Washc2 APN 6 116236189 missense probably benign 0.22
IGL02022:Washc2 APN 6 116259165 missense probably benign 0.22
IGL02150:Washc2 APN 6 116231632 splice site probably benign
IGL02224:Washc2 APN 6 116220569 missense possibly damaging 0.70
IGL02553:Washc2 APN 6 116241610 missense probably damaging 0.98
IGL02555:Washc2 APN 6 116209100 missense probably damaging 1.00
IGL02612:Washc2 APN 6 116220616 missense possibly damaging 0.90
IGL02622:Washc2 APN 6 116214018 splice site probably benign
IGL02900:Washc2 APN 6 116227474 missense probably damaging 1.00
IGL03263:Washc2 APN 6 116238123 splice site probably benign
fading UTSW 6 116254153 missense probably damaging 1.00
R0218:Washc2 UTSW 6 116248046 nonsense probably null
R0285:Washc2 UTSW 6 116221839 missense probably damaging 1.00
R0346:Washc2 UTSW 6 116220523 splice site probably benign
R0677:Washc2 UTSW 6 116244616 missense probably damaging 1.00
R0919:Washc2 UTSW 6 116208264 missense probably damaging 1.00
R1144:Washc2 UTSW 6 116224534 missense probably damaging 1.00
R1666:Washc2 UTSW 6 116223254 critical splice donor site probably null
R1687:Washc2 UTSW 6 116256712 missense probably benign 0.06
R1702:Washc2 UTSW 6 116229306 missense probably damaging 0.99
R1740:Washc2 UTSW 6 116231632 splice site probably benign
R1952:Washc2 UTSW 6 116255091 missense possibly damaging 0.92
R1964:Washc2 UTSW 6 116208987 missense probably damaging 0.99
R2039:Washc2 UTSW 6 116224439 missense probably damaging 0.99
R3084:Washc2 UTSW 6 116227493 missense probably benign 0.00
R3552:Washc2 UTSW 6 116220568 missense probably damaging 1.00
R3790:Washc2 UTSW 6 116247972 splice site probably benign
R3949:Washc2 UTSW 6 116208204 utr 5 prime probably benign
R4089:Washc2 UTSW 6 116256292 splice site probably null
R4133:Washc2 UTSW 6 116258930 missense probably damaging 0.99
R4258:Washc2 UTSW 6 116208241 missense probably damaging 1.00
R4510:Washc2 UTSW 6 116220556 missense probably damaging 1.00
R4511:Washc2 UTSW 6 116220556 missense probably damaging 1.00
R4613:Washc2 UTSW 6 116229269 missense probably damaging 1.00
R4614:Washc2 UTSW 6 116238174 missense possibly damaging 0.83
R4794:Washc2 UTSW 6 116258649 missense probably benign 0.03
R5224:Washc2 UTSW 6 116209004 makesense probably null
R5367:Washc2 UTSW 6 116259150 missense probably damaging 1.00
R5602:Washc2 UTSW 6 116248095 missense possibly damaging 0.73
R6013:Washc2 UTSW 6 116254153 missense probably damaging 1.00
R6075:Washc2 UTSW 6 116227366 missense probably benign 0.02
R6086:Washc2 UTSW 6 116256216 splice site probably null
R6344:Washc2 UTSW 6 116258758 missense probably benign 0.08
R6593:Washc2 UTSW 6 116259249 missense probably damaging 1.00
R7048:Washc2 UTSW 6 116220583 missense possibly damaging 0.96
R7062:Washc2 UTSW 6 116219988 missense possibly damaging 0.72
R7241:Washc2 UTSW 6 116208207 start codon destroyed probably null 0.01
R7283:Washc2 UTSW 6 116227418 missense probably damaging 0.99
R7681:Washc2 UTSW 6 116260657 missense probably damaging 0.99
R7810:Washc2 UTSW 6 116259059 missense probably benign
R7908:Washc2 UTSW 6 116248145 missense probably benign
R8067:Washc2 UTSW 6 116224503 missense probably damaging 0.99
X0018:Washc2 UTSW 6 116208258 missense probably null 0.96
Posted On2013-11-05