Incidental Mutation 'R5556:Sh3d21'
ID 435376
Institutional Source Beutler Lab
Gene Symbol Sh3d21
Ensembl Gene ENSMUSG00000073758
Gene Name SH3 domain containing 21
Synonyms 1700029G01Rik
MMRRC Submission 043113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5556 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 126044395-126057284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126056029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 126 (N126D)
Ref Sequence ENSEMBL: ENSMUSP00000095501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080919] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000163176]
AlphaFold Q7TSG5
Predicted Effect probably benign
Transcript: ENSMUST00000080919
SMART Domains Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
low complexity region 77 95 N/A INTRINSIC
low complexity region 99 108 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 123 788 1.9e-207 PFAM
low complexity region 790 801 N/A INTRINSIC
low complexity region 835 854 N/A INTRINSIC
low complexity region 892 910 N/A INTRINSIC
low complexity region 924 938 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094760
SMART Domains Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758

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 possibly damaging
Transcript: ENSMUST00000097891
AA Change: N126D

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758
AA Change: N126D

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 noncoding transcript
Transcript: ENSMUST00000140390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154702
Predicted Effect probably benign
Transcript: ENSMUST00000163176
Predicted Effect probably benign
Transcript: ENSMUST00000163459
SMART Domains Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 1 39 4e-17 PFAM
low complexity region 41 58 N/A INTRINSIC
low complexity region 59 77 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Pfam:Btz 124 192 3.1e-4 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Accs A G 2: 93,666,428 (GRCm39) Y420H probably damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cast A G 13: 74,844,008 (GRCm39) probably null Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Cherp C G 8: 73,221,824 (GRCm39) Q313H probably damaging Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Nsmaf C T 4: 6,398,621 (GRCm39) V828I probably benign Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Prtg T C 9: 72,758,986 (GRCm39) S447P probably damaging Het
Ptprr A G 10: 116,087,054 (GRCm39) Y267C probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Usp3 G A 9: 66,451,303 (GRCm39) T153M possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G probably benign 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
R0834:Sh3d21 UTSW 4 126,045,065 (GRCm39) missense probably benign 0.02
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
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'- TTCCAAGGCCTGCAGAAGAAG -3'
(R):5'- GCTGCAGCTATTCACACAGAAG -3'

Sequencing Primer
(F):5'- CCTGCAGAAGAAGAATCGATGGTG -3'
(R):5'- TGCAGCTATTCACACAGAAGAAAGTG -3'
Posted On 2016-10-24