Incidental Mutation 'R1602:Shld2'
ID 176224
Institutional Source Beutler Lab
Gene Symbol Shld2
Ensembl Gene ENSMUSG00000041471
Gene Name shieldin complex subunit 2
Synonyms 3110001K24Rik, Fam35a
MMRRC Submission 039639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R1602 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 33958990-34032450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33989607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 433 (I433T)
Ref Sequence ENSEMBL: ENSMUSP00000154080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111917] [ENSMUST00000227006] [ENSMUST00000227375] [ENSMUST00000228337] [ENSMUST00000228626] [ENSMUST00000228704]
AlphaFold Q3UEN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000111917
AA Change: I433T

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: I433T

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 damaging
Transcript: ENSMUST00000228626
AA Change: I433T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000228704
Meta Mutation Damage Score 0.4538 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.4%
Validation Efficiency 91% (49/54)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 66,290,683 (GRCm39) Y1583* probably null Het
Ankrd34c T C 9: 89,611,058 (GRCm39) T428A possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Atr T C 9: 95,833,610 (GRCm39) L2620P probably damaging Het
Ccdc110 A G 8: 46,391,955 (GRCm39) Y54C probably benign Het
Cecr2 T C 6: 120,732,548 (GRCm39) V480A possibly damaging Het
Chfr A G 5: 110,299,531 (GRCm39) D308G probably benign Het
Cit T A 5: 116,135,789 (GRCm39) I1919N probably damaging Het
Ctsc T A 7: 87,927,512 (GRCm39) D34E possibly damaging Het
Diaph3 T A 14: 87,328,594 (GRCm39) probably benign Het
Dnah6 T A 6: 73,044,452 (GRCm39) I3220F probably damaging Het
Eif1ad16 C A 12: 87,985,134 (GRCm39) E136D probably benign Het
Eif4a3l1 G A 6: 136,305,778 (GRCm39) A80T probably damaging Het
Elmod3 A G 6: 72,546,242 (GRCm39) probably null Het
Fgd5 T C 6: 92,043,165 (GRCm39) V1215A possibly damaging Het
Filip1 T C 9: 79,727,873 (GRCm39) M249V probably damaging Het
Fmn1 C T 2: 113,355,968 (GRCm39) P803L unknown Het
Gcfc2 A G 6: 81,921,401 (GRCm39) K469R probably damaging Het
Itgad A G 7: 127,790,111 (GRCm39) T637A probably damaging Het
Kank2 T C 9: 21,681,133 (GRCm39) S799G probably damaging Het
Kcnc4 A T 3: 107,355,520 (GRCm39) D309E possibly damaging Het
Lamc2 G A 1: 153,002,774 (GRCm39) T1069M probably benign Het
Lepr T A 4: 101,602,842 (GRCm39) M210K possibly damaging Het
Lig3 T C 11: 82,683,020 (GRCm39) probably null Het
Oat G T 7: 132,171,736 (GRCm39) T33K probably benign Het
Or2ad1 T C 13: 21,326,820 (GRCm39) M136V probably damaging Het
Or4b1d A G 2: 89,969,399 (GRCm39) F28S probably damaging Het
Or7c70 T A 10: 78,682,802 (GRCm39) M316L probably benign Het
Pcnx3 G T 19: 5,722,543 (GRCm39) A1383E probably damaging Het
Pctp T C 11: 89,879,561 (GRCm39) Y100C probably damaging Het
Pex6 G T 17: 47,023,063 (GRCm39) R213L probably benign Het
Phlpp2 T C 8: 110,660,655 (GRCm39) L770S possibly damaging Het
Pkn2 A T 3: 142,559,299 (GRCm39) D75E possibly damaging Het
Pla2g12b T C 10: 59,257,375 (GRCm39) probably null Het
Plch2 C T 4: 155,068,907 (GRCm39) V1135I probably damaging Het
Pskh1 T A 8: 106,639,453 (GRCm39) S44R probably benign Het
Ptpra G T 2: 30,327,602 (GRCm39) A119S probably benign Het
Slfn3 A G 11: 83,103,541 (GRCm39) I137M probably damaging Het
St6galnac1 A T 11: 116,660,113 (GRCm39) S67T probably benign Het
Timd5 T C 11: 46,426,415 (GRCm39) I174T probably benign Het
Treml1 A G 17: 48,671,917 (GRCm39) E137G probably damaging Het
Ubr2 A C 17: 47,251,987 (GRCm39) C1518G probably benign Het
Vmn2r55 A T 7: 12,386,571 (GRCm39) C470S probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CACATGCTACAGCAGGTCAGTCAC -3'
(R):5'- CCATCAGGTGTCCAAGAAGCCAAG -3'

Sequencing Primer
(F):5'- GTCAGTCACACCCAGGGAAG -3'
(R):5'- GCCAAGGATGGATTCTAATATAAGAG -3'
Posted On 2014-04-24