Incidental Mutation 'R0834:Sh3d21'
ID 77713
Institutional Source Beutler Lab
Gene Symbol Sh3d21
Ensembl Gene ENSMUSG00000073758
Gene Name SH3 domain containing 21
Synonyms 1700029G01Rik
MMRRC Submission 039013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R0834 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 126044395-126057284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126045065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 538 (K538R)
Ref Sequence ENSEMBL: ENSMUSP00000095501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052876] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000106150] [ENSMUST00000106152]
AlphaFold Q7TSG5
Predicted Effect probably benign
Transcript: ENSMUST00000052876
SMART Domains Protein: ENSMUSP00000054141
Gene: ENSMUSG00000050212

DomainStartEndE-ValueType
Pfam:FAM176 7 154 5.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094760
AA Change: K422R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758
AA Change: K422R

DomainStartEndE-ValueType
SH3 68 125 7.11e-22 SMART
low complexity region 211 221 N/A INTRINSIC
low complexity region 464 473 N/A INTRINSIC
coiled coil region 482 510 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097891
AA Change: K538R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758
AA Change: K538R

DomainStartEndE-ValueType
SH3 1 57 4.29e-7 SMART
low complexity region 66 76 N/A INTRINSIC
SH3 86 141 2.96e-19 SMART
SH3 184 241 7.11e-22 SMART
low complexity region 327 337 N/A INTRINSIC
low complexity region 580 589 N/A INTRINSIC
coiled coil region 598 626 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106150
SMART Domains Protein: ENSMUSP00000101756
Gene: ENSMUSG00000050212

DomainStartEndE-ValueType
Pfam:FAM176 7 154 3e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106152
SMART Domains Protein: ENSMUSP00000101758
Gene: ENSMUSG00000050212

DomainStartEndE-ValueType
Pfam:FAM176 7 154 3e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142891
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (86/86)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,063,899 (GRCm39) E66V probably damaging Het
Aldh1a3 T C 7: 66,062,658 (GRCm39) I156V probably benign Het
Ang4 T A 14: 52,001,725 (GRCm39) K74N probably benign Het
Arcn1 A T 9: 44,670,172 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,655,026 (GRCm39) probably benign Het
Atn1 A G 6: 124,720,188 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,185 (GRCm39) H359R probably damaging Het
Bmerb1 T C 16: 13,911,795 (GRCm39) L47P probably damaging Het
Brip1 T C 11: 86,083,653 (GRCm39) T123A probably benign Het
Camkv A G 9: 107,823,045 (GRCm39) Y95C probably damaging Het
Cdk12 T A 11: 98,095,211 (GRCm39) S340T probably benign Het
Ckap2l G A 2: 129,138,224 (GRCm39) probably benign Het
Clmn A T 12: 104,738,085 (GRCm39) L1042Q probably damaging Het
Clmn G T 12: 104,738,086 (GRCm39) L1042M probably damaging Het
Cluh T C 11: 74,554,631 (GRCm39) V737A probably benign Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Csmd3 A T 15: 47,747,073 (GRCm39) probably benign Het
Ctr9 T A 7: 110,650,159 (GRCm39) S818T probably benign Het
Cyp26a1 C T 19: 37,688,405 (GRCm39) A309V probably damaging Het
Dbndd2 C T 2: 164,332,122 (GRCm39) T115I possibly damaging Het
Dhcr7 A G 7: 143,394,964 (GRCm39) N157S probably benign Het
Dlx2 C A 2: 71,375,859 (GRCm39) V155F probably damaging Het
Duox1 A T 2: 122,176,982 (GRCm39) I1470F probably damaging Het
Esrrb A T 12: 86,517,071 (GRCm39) I68F probably benign Het
Fhod3 T A 18: 25,248,862 (GRCm39) L1347* probably null Het
Fip1l1 T C 5: 74,755,721 (GRCm39) probably benign Het
Frem3 A G 8: 81,413,637 (GRCm39) Y1966C probably damaging Het
Gatd3a T C 10: 77,998,539 (GRCm39) D229G probably damaging Het
Ggt5 C T 10: 75,440,604 (GRCm39) R242C possibly damaging Het
Gm14496 G A 2: 181,637,480 (GRCm39) V185I probably benign Het
Gnptab T C 10: 88,265,814 (GRCm39) V409A probably damaging Het
Gramd1a A G 7: 30,837,589 (GRCm39) F390S possibly damaging Het
Helz2 A G 2: 180,872,570 (GRCm39) S2477P probably damaging Het
Hsd17b3 T C 13: 64,236,936 (GRCm39) K3E probably benign Het
Ift172 T C 5: 31,414,715 (GRCm39) H1395R probably benign Het
Jam2 T A 16: 84,609,855 (GRCm39) C180S probably damaging Het
Kalrn A C 16: 33,870,289 (GRCm39) S160A possibly damaging Het
Kcnk3 T C 5: 30,779,979 (GRCm39) I343T probably damaging Het
Kif13a T C 13: 46,967,712 (GRCm39) E334G probably damaging Het
Klhl41 A G 2: 69,508,491 (GRCm39) K482E possibly damaging Het
Lig3 A G 11: 82,689,113 (GRCm39) E794G probably damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Ndst2 A G 14: 20,779,761 (GRCm39) Y160H probably damaging Het
Ndufb10 T C 17: 24,941,648 (GRCm39) M90V probably damaging Het
Obscn T C 11: 59,024,104 (GRCm39) K522R probably benign Het
Olfml2b T C 1: 170,475,413 (GRCm39) S113P probably benign Het
Or14a257 T A 7: 86,138,698 (GRCm39) E20D probably benign Het
Or4a78 A G 2: 89,497,423 (GRCm39) I269T probably benign Het
Or4d10b T A 19: 12,036,979 (GRCm39) M46L probably benign Het
Or51v14 T C 7: 103,261,444 (GRCm39) T39A probably benign Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Parg T C 14: 31,936,511 (GRCm39) probably benign Het
Pde7a C T 3: 19,284,482 (GRCm39) C367Y probably damaging Het
Pigr T A 1: 130,772,281 (GRCm39) C166* probably null Het
Pip4k2c A T 10: 127,036,704 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkd2 A T 7: 16,599,602 (GRCm39) probably benign Het
Ptprt G T 2: 161,654,059 (GRCm39) probably null Het
Rapgef5 C T 12: 117,610,741 (GRCm39) probably benign Het
Retreg1 T C 15: 25,971,756 (GRCm39) L356P probably benign Het
Rigi T A 4: 40,239,596 (GRCm39) E34V possibly damaging Het
Rnf43 A G 11: 87,622,077 (GRCm39) T393A probably benign Het
Samd3 T C 10: 26,147,725 (GRCm39) S467P probably benign Het
Scarf1 C A 11: 75,405,229 (GRCm39) C89* probably null Het
Sdk1 T C 5: 141,227,779 (GRCm39) L59S probably benign Het
Sgca C T 11: 94,861,512 (GRCm39) W244* probably null Het
Smyd4 T A 11: 75,281,958 (GRCm39) L477Q possibly damaging Het
Sra1 A G 18: 36,801,829 (GRCm39) M87T probably benign Het
Ssh2 T C 11: 77,328,459 (GRCm39) Y336H possibly damaging Het
Steap1 T C 5: 5,790,357 (GRCm39) Y197C probably damaging Het
Strn3 A G 12: 51,673,879 (GRCm39) probably benign Het
Tgm3 A G 2: 129,868,677 (GRCm39) T205A probably benign Het
Tll2 G A 19: 41,101,512 (GRCm39) T374I probably damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Trim10 G A 17: 37,183,283 (GRCm39) S193N probably benign Het
Ttf1 A T 2: 28,963,962 (GRCm39) K613* probably null Het
Tube1 T A 10: 39,010,168 (GRCm39) probably null Het
Uimc1 T A 13: 55,224,222 (GRCm39) probably null Het
Wwp2 G T 8: 108,283,428 (GRCm39) probably benign Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp292 T C 4: 34,809,114 (GRCm39) D1310G probably benign Het
Zfp575 A T 7: 24,285,245 (GRCm39) L132H probably damaging Het
Zmym2 T C 14: 57,194,420 (GRCm39) F1226S probably damaging Het
Zswim6 A C 13: 107,862,989 (GRCm39) noncoding transcript Het
Other mutations in Sh3d21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Sh3d21 APN 4 126,046,153 (GRCm39) missense probably benign
IGL02869:Sh3d21 APN 4 126,056,034 (GRCm39) missense probably benign 0.23
R0827:Sh3d21 UTSW 4 126,046,064 (GRCm39) unclassified probably benign
R0890:Sh3d21 UTSW 4 126,044,945 (GRCm39) missense probably damaging 1.00
R1519:Sh3d21 UTSW 4 126,045,519 (GRCm39) nonsense probably null
R1864:Sh3d21 UTSW 4 126,044,729 (GRCm39) critical splice acceptor site probably null
R1986:Sh3d21 UTSW 4 126,056,290 (GRCm39) missense probably damaging 1.00
R3429:Sh3d21 UTSW 4 126,056,625 (GRCm39) missense probably benign 0.25
R3430:Sh3d21 UTSW 4 126,056,625 (GRCm39) missense probably benign 0.25
R4244:Sh3d21 UTSW 4 126,044,511 (GRCm39) unclassified probably benign
R4501:Sh3d21 UTSW 4 126,056,652 (GRCm39) frame shift probably null
R4972:Sh3d21 UTSW 4 126,046,209 (GRCm39) missense possibly damaging 0.64
R5117:Sh3d21 UTSW 4 126,045,665 (GRCm39) missense probably damaging 1.00
R5249:Sh3d21 UTSW 4 126,055,858 (GRCm39) unclassified probably benign
R5293:Sh3d21 UTSW 4 126,046,050 (GRCm39) missense probably benign 0.18
R5556:Sh3d21 UTSW 4 126,056,029 (GRCm39) missense possibly damaging 0.50
R7085:Sh3d21 UTSW 4 126,056,884 (GRCm39) missense probably benign 0.02
R7247:Sh3d21 UTSW 4 126,045,908 (GRCm39) missense probably benign 0.00
R7564:Sh3d21 UTSW 4 126,044,937 (GRCm39) missense probably benign 0.13
R8262:Sh3d21 UTSW 4 126,055,775 (GRCm39) missense probably benign 0.03
R9047:Sh3d21 UTSW 4 126,046,131 (GRCm39) unclassified probably benign
R9295:Sh3d21 UTSW 4 126,045,276 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TCCAACACATCCATGCGGTCATTC -3'
(R):5'- TCAATGCCAGCACTTGCCTCAG -3'

Sequencing Primer
(F):5'- ATGCGGTCATTCTTGCTCTTG -3'
(R):5'- AATAACATCCAGGTGCCAGG -3'
Posted On 2013-10-16