Incidental Mutation 'IGL00157:Shld2'
ID 974
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 # IGL00157
Quality Score
Status
Chromosome 14
Chromosomal Location 33958990-34032450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33990582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000153771 (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: V108A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: V108A

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
AA Change: V108A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228132
Predicted Effect probably benign
Transcript: ENSMUST00000228337
AA Change: V108A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000228626
AA Change: V108A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000228704
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 43,902,875 (GRCm39) V331A possibly damaging Het
Casr C A 16: 36,316,172 (GRCm39) V633F probably damaging Het
Cblb T G 16: 52,003,670 (GRCm39) V716G probably benign Het
Cbln2 C T 18: 86,734,509 (GRCm39) Q156* probably null Het
Cnn1 G T 9: 22,010,693 (GRCm39) L14F possibly damaging Het
D830013O20Rik T C 12: 73,411,021 (GRCm39) noncoding transcript Het
Drd1 A G 13: 54,207,897 (GRCm39) S99P probably damaging Het
Fat1 T C 8: 45,404,707 (GRCm39) V486A possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gm10735 T C 13: 113,178,018 (GRCm39) probably benign Het
H2-T5 A T 17: 36,476,246 (GRCm39) probably null Het
Jag2 T C 12: 112,876,338 (GRCm39) T790A probably benign Het
Klhdc1 T A 12: 69,288,782 (GRCm39) Y31N possibly damaging Het
Lama1 A T 17: 68,122,923 (GRCm39) M2769L probably benign Het
Mms19 A G 19: 41,933,896 (GRCm39) probably null Het
Msrb2 C A 2: 19,399,152 (GRCm39) P172T probably damaging Het
Or8g35 A G 9: 39,381,539 (GRCm39) V161A probably benign Het
Or8k41 T C 2: 86,313,562 (GRCm39) S175G probably benign Het
Pcdhb9 T A 18: 37,536,332 (GRCm39) D775E possibly damaging Het
Pkhd1 T C 1: 20,637,098 (GRCm39) probably null Het
Preb A T 5: 31,113,308 (GRCm39) D375E probably damaging Het
Prkdc T C 16: 15,515,090 (GRCm39) I1010T probably damaging Het
Rbp2 A G 9: 98,380,950 (GRCm39) probably null Het
Septin9 A G 11: 117,243,010 (GRCm39) T66A probably damaging Het
Serpinb9b A T 13: 33,219,608 (GRCm39) E178D probably benign Het
Tg A G 15: 66,719,015 (GRCm39) Y258C probably damaging Het
Tmprss7 T C 16: 45,483,731 (GRCm39) R548G probably benign Het
Uba7 G A 9: 107,856,310 (GRCm39) A536T probably benign Het
Vmn2r114 G A 17: 23,510,639 (GRCm39) P614S probably damaging Het
Xpc A G 6: 91,469,246 (GRCm39) probably benign Het
Yrdc T C 4: 124,747,754 (GRCm39) S86P probably damaging Het
Zbed6 G T 1: 133,585,114 (GRCm39) A741D probably damaging Het
Other mutations in Shld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02251:Shld2 APN 14 33,990,235 (GRCm39) missense probably benign 0.10
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 2011-07-12