Incidental Mutation 'R5448:Shld2'
ID 429190
Institutional Source Beutler Lab
Gene Symbol Shld2
Ensembl Gene ENSMUSG00000041471
Gene Name shieldin complex subunit 2
Synonyms 3110001K24Rik, Fam35a
MMRRC Submission 043013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R5448 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 33958990-34032450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33990327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 193 (T193I)
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: T193I

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: T193I

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: T193I

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000228704
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Actn3 T C 19: 4,913,239 (GRCm39) D699G possibly damaging Het
C1galt1 C T 6: 7,866,658 (GRCm39) A168V possibly damaging Het
Ccdc180 A T 4: 45,920,913 (GRCm39) E953V probably damaging Het
Ccdc88b T A 19: 6,831,948 (GRCm39) D411V probably damaging Het
Cdadc1 T A 14: 59,811,275 (GRCm39) I412L possibly damaging Het
Clip2 T C 5: 134,542,902 (GRCm39) N424D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo38 A T 18: 62,655,528 (GRCm39) I386N possibly damaging Het
Gm9887 C A 12: 69,418,865 (GRCm39) probably benign Het
Itgae T C 11: 73,024,734 (GRCm39) probably null Het
Klhl2 C A 8: 65,275,642 (GRCm39) probably null Het
Krt1 T A 15: 101,757,464 (GRCm39) K249* probably null Het
L3mbtl2 T C 15: 81,568,534 (GRCm39) Y513H possibly damaging Het
Maml2 A C 9: 13,617,763 (GRCm39) S370R probably damaging Het
Or1e35 T C 11: 73,797,437 (GRCm39) N294D probably damaging Het
Or4c112 T G 2: 88,853,845 (GRCm39) L167F probably benign Het
Pcnx2 T C 8: 126,614,888 (GRCm39) T188A probably benign Het
Pde6c A G 19: 38,121,623 (GRCm39) E77G probably damaging Het
Pgr A G 9: 8,922,638 (GRCm39) I603V probably benign Het
Plce1 T C 19: 38,768,361 (GRCm39) V2212A probably damaging Het
Ppl C T 16: 4,925,430 (GRCm39) A70T probably benign Het
Prpf40a G T 2: 53,046,938 (GRCm39) T266N possibly damaging Het
Prrx1 T C 1: 163,075,867 (GRCm39) E233G probably damaging Het
Rdh16f2 C T 10: 127,712,932 (GRCm39) T310I probably benign Het
Rfx6 T C 10: 51,559,733 (GRCm39) S187P probably damaging Het
Scn10a A T 9: 119,517,013 (GRCm39) F135I probably benign Het
Slc24a1 A G 9: 64,855,609 (GRCm39) F433L probably benign Het
Slfn3 T A 11: 83,105,431 (GRCm39) L476Q probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Trappc1 T C 11: 69,216,361 (GRCm39) S136P probably benign Het
Tshz3 A G 7: 36,470,654 (GRCm39) E881G possibly damaging Het
Ubash3b A G 9: 40,948,731 (GRCm39) probably null Het
Wdtc1 G A 4: 133,021,608 (GRCm39) A642V probably benign Het
Zdhhc22 T C 12: 87,035,341 (GRCm39) D37G possibly 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
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
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'- AGTTCGTCTGACTCCCTGAC -3'
(R):5'- GGAGTTCAGCATTTACCCGAAG -3'

Sequencing Primer
(F):5'- ACAGTGCTCTTATTTATACAGTCCTG -3'
(R):5'- TCAGCATTTACCCGAAGAAGAAAAAG -3'
Posted On 2016-09-06