Incidental Mutation 'IGL02251:Shld2'
ID 286378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shld2
Ensembl Gene ENSMUSG00000041471
Gene Name shieldin complex subunit 2
Synonyms 3110001K24Rik, Fam35a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL02251
Quality Score
Status
Chromosome 14
Chromosomal Location 33958990-34032450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33990235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 224 (R224G)
Ref Sequence ENSEMBL: ENSMUSP00000154080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111917] [ENSMUST00000227006] [ENSMUST00000227375] [ENSMUST00000228337] [ENSMUST00000228626] [ENSMUST00000228704]
AlphaFold Q3UEN2
Predicted Effect probably benign
Transcript: ENSMUST00000111917
AA Change: R224G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: R224G

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
low complexity region 163 177 N/A INTRINSIC
Pfam:FAM35_C 694 866 4.6e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227006
Predicted Effect probably benign
Transcript: ENSMUST00000227375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228310
Predicted Effect probably benign
Transcript: ENSMUST00000228337
Predicted Effect probably benign
Transcript: ENSMUST00000228626
AA Change: R224G

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000228704
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,840 (GRCm39) C1406R probably damaging Het
Acp2 T A 2: 91,038,678 (GRCm39) probably null Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Arhgef11 C T 3: 87,590,854 (GRCm39) R32C probably damaging Het
Armc6 A T 8: 70,677,870 (GRCm39) L153* probably null Het
Btnl2 G T 17: 34,582,213 (GRCm39) G260* probably null Het
Ccnf A G 17: 24,445,513 (GRCm39) S551P probably benign Het
Cdh19 A G 1: 110,882,382 (GRCm39) S37P probably benign Het
Cntnap3 T A 13: 64,909,850 (GRCm39) T752S probably damaging Het
Crispld1 A G 1: 17,799,064 (GRCm39) M62V probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dner G T 1: 84,361,747 (GRCm39) Q621K probably damaging Het
Dph6 A G 2: 114,366,004 (GRCm39) probably null Het
Dpp3 T G 19: 4,968,343 (GRCm39) H243P probably benign Het
Eif3j2 T A 18: 43,610,431 (GRCm39) K127N probably damaging Het
Esrp1 G A 4: 11,361,202 (GRCm39) R315C probably damaging Het
Gm973 A C 1: 59,621,582 (GRCm39) H574P probably benign Het
Gprasp1 G A X: 134,701,288 (GRCm39) V494I probably benign Het
Hbb-bh1 T A 7: 103,492,017 (GRCm39) K66* probably null Het
Hoxb9 T A 11: 96,165,651 (GRCm39) M240K probably damaging Het
Irf2 T C 8: 47,260,788 (GRCm39) probably null Het
Lgi4 A G 7: 30,766,688 (GRCm39) probably null Het
Mylk3 C T 8: 86,081,805 (GRCm39) V328M probably benign Het
Nf2 T C 11: 4,798,873 (GRCm39) E38G probably null Het
Or4k40 A C 2: 111,250,657 (GRCm39) L213R probably damaging Het
Or51l14 A T 7: 103,100,978 (GRCm39) K145* probably null Het
Pdpk1 A G 17: 24,298,612 (GRCm39) F346L probably damaging Het
Prex1 T C 2: 166,419,806 (GRCm39) Y1120C probably damaging Het
Rab3gap1 A G 1: 127,865,237 (GRCm39) T742A probably benign Het
Scai A T 2: 38,989,429 (GRCm39) D401E probably benign Het
Scd1 T C 19: 44,386,533 (GRCm39) H298R probably damaging Het
Slc45a1 A G 4: 150,723,176 (GRCm39) probably benign Het
Smim10l1 G T 6: 133,082,471 (GRCm39) R6L probably damaging Het
Spag5 T G 11: 78,210,860 (GRCm39) F921C probably damaging Het
Sun1 T C 5: 139,227,186 (GRCm39) S667P probably damaging Het
Tas2r124 A G 6: 132,732,524 (GRCm39) I278V probably benign Het
Thbs1 G A 2: 117,943,999 (GRCm39) D206N probably benign Het
Trim37 T A 11: 87,058,256 (GRCm39) probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn2r103 A G 17: 20,014,231 (GRCm39) N341S possibly damaging Het
Zmat3 A G 3: 32,399,732 (GRCm39) probably benign Het
Other mutations in Shld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Shld2 APN 14 33,990,582 (GRCm39) missense probably benign 0.02
IGL00962:Shld2 APN 14 33,971,208 (GRCm39) missense probably damaging 1.00
IGL01288:Shld2 APN 14 33,981,600 (GRCm39) missense probably benign 0.00
IGL01302:Shld2 APN 14 33,981,684 (GRCm39) missense probably benign 0.03
IGL01312:Shld2 APN 14 33,990,150 (GRCm39) missense possibly damaging 0.56
IGL01444:Shld2 APN 14 33,959,514 (GRCm39) missense probably damaging 1.00
IGL01633:Shld2 APN 14 33,971,136 (GRCm39) missense probably damaging 1.00
IGL02927:Shld2 APN 14 33,989,658 (GRCm39) missense probably damaging 1.00
IGL03183:Shld2 APN 14 33,967,143 (GRCm39) missense probably benign 0.02
IGL03226:Shld2 APN 14 33,990,328 (GRCm39) missense probably benign 0.08
R0111:Shld2 UTSW 14 33,989,686 (GRCm39) missense probably damaging 0.98
R1170:Shld2 UTSW 14 33,990,448 (GRCm39) missense possibly damaging 0.92
R1348:Shld2 UTSW 14 33,990,880 (GRCm39) missense probably damaging 1.00
R1467:Shld2 UTSW 14 33,990,619 (GRCm39) missense possibly damaging 0.92
R1467:Shld2 UTSW 14 33,990,619 (GRCm39) missense possibly damaging 0.92
R1538:Shld2 UTSW 14 33,990,833 (GRCm39) missense probably damaging 1.00
R1602:Shld2 UTSW 14 33,989,607 (GRCm39) missense probably damaging 1.00
R1650:Shld2 UTSW 14 33,981,574 (GRCm39) intron probably benign
R1777:Shld2 UTSW 14 33,990,130 (GRCm39) missense probably benign 0.07
R1843:Shld2 UTSW 14 33,989,760 (GRCm39) missense probably benign 0.01
R2425:Shld2 UTSW 14 33,990,646 (GRCm39) missense probably damaging 0.96
R3837:Shld2 UTSW 14 33,971,142 (GRCm39) missense probably damaging 0.99
R3838:Shld2 UTSW 14 33,967,325 (GRCm39) missense probably benign 0.01
R3904:Shld2 UTSW 14 33,981,666 (GRCm39) missense probably damaging 1.00
R3964:Shld2 UTSW 14 33,981,644 (GRCm39) missense probably damaging 1.00
R4322:Shld2 UTSW 14 33,981,632 (GRCm39) missense probably damaging 0.99
R4708:Shld2 UTSW 14 33,989,790 (GRCm39) missense probably benign 0.17
R4771:Shld2 UTSW 14 33,990,663 (GRCm39) missense probably damaging 1.00
R4838:Shld2 UTSW 14 33,990,582 (GRCm39) missense probably benign 0.02
R5448:Shld2 UTSW 14 33,990,327 (GRCm39) missense probably benign 0.32
R5874:Shld2 UTSW 14 33,967,215 (GRCm39) missense probably benign 0.08
R6332:Shld2 UTSW 14 33,990,129 (GRCm39) missense probably benign 0.07
R6333:Shld2 UTSW 14 33,989,565 (GRCm39) missense probably damaging 1.00
R6476:Shld2 UTSW 14 33,989,971 (GRCm39) missense probably benign 0.27
R6576:Shld2 UTSW 14 33,990,199 (GRCm39) missense probably damaging 1.00
R7172:Shld2 UTSW 14 33,959,525 (GRCm39) missense probably damaging 1.00
R7574:Shld2 UTSW 14 33,959,423 (GRCm39) missense probably damaging 1.00
R7725:Shld2 UTSW 14 33,990,661 (GRCm39) missense possibly damaging 0.86
R7755:Shld2 UTSW 14 33,970,847 (GRCm39) missense probably damaging 0.99
R7840:Shld2 UTSW 14 33,959,523 (GRCm39) missense probably damaging 1.00
R7881:Shld2 UTSW 14 33,989,724 (GRCm39) missense possibly damaging 0.63
R7947:Shld2 UTSW 14 33,990,436 (GRCm39) missense probably benign 0.27
R8192:Shld2 UTSW 14 33,967,173 (GRCm39) missense probably benign 0.04
R8443:Shld2 UTSW 14 33,989,942 (GRCm39) missense probably benign 0.00
R8492:Shld2 UTSW 14 33,967,189 (GRCm39) missense probably damaging 0.99
R9323:Shld2 UTSW 14 33,981,596 (GRCm39) missense probably damaging 0.98
R9524:Shld2 UTSW 14 33,971,245 (GRCm39) nonsense probably null
X0009:Shld2 UTSW 14 33,967,143 (GRCm39) missense probably benign 0.02
Z1177:Shld2 UTSW 14 33,990,555 (GRCm39) missense probably damaging 1.00
Z1177:Shld2 UTSW 14 33,963,428 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16