Incidental Mutation 'R5079:Sh2d6'
ID 387017
Institutional Source Beutler Lab
Gene Symbol Sh2d6
Ensembl Gene ENSMUSG00000052631
Gene Name SH2 domain containing 6
Synonyms 4933424C13Rik
MMRRC Submission 042668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R5079 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 72490624-72498690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72496833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 66 (P66S)
Ref Sequence ENSEMBL: ENSMUSP00000124673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089687] [ENSMUST00000159877] [ENSMUST00000162561]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089687
AA Change: P39S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000087117
Gene: ENSMUSG00000052631
AA Change: P39S

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
SH2 184 276 3.15e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159577
Predicted Effect probably benign
Transcript: ENSMUST00000159877
SMART Domains Protein: ENSMUSP00000123776
Gene: ENSMUSG00000052631

DomainStartEndE-ValueType
low complexity region 117 130 N/A INTRINSIC
SH2 138 230 3.15e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160761
Predicted Effect probably benign
Transcript: ENSMUST00000162561
AA Change: P66S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000124673
Gene: ENSMUSG00000052631
AA Change: P66S

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 190 203 N/A INTRINSIC
SH2 211 303 3.15e-16 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 90% (63/70)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,885,196 (GRCm39) S221G probably benign Het
Abca9 A T 11: 110,036,395 (GRCm39) F571L possibly damaging Het
Agbl4 T A 4: 111,423,826 (GRCm39) M284K possibly damaging Het
Ankrd16 A G 2: 11,783,710 (GRCm39) D104G probably damaging Het
Bpifc T C 10: 85,817,168 (GRCm39) D230G probably damaging Het
Casc3 C T 11: 98,701,252 (GRCm39) probably benign Het
Catsperd T C 17: 56,965,153 (GRCm39) probably null Het
Cpxm2 C T 7: 131,756,014 (GRCm39) probably null Het
Crisp1 A T 17: 40,619,867 (GRCm39) probably null Het
Crybg2 T C 4: 133,801,564 (GRCm39) I908T possibly damaging Het
Csn3 T C 5: 88,077,626 (GRCm39) V44A possibly damaging Het
Dipk1c A T 18: 84,748,702 (GRCm39) H100L probably benign Het
Dop1a T A 9: 86,369,474 (GRCm39) D102E probably damaging Het
Etfdh T C 3: 79,525,705 (GRCm39) Y111C probably damaging Het
Fat3 T C 9: 15,910,423 (GRCm39) S1860G probably benign Het
Gba2 G T 4: 43,568,640 (GRCm39) probably benign Het
Ggta1 A G 2: 35,312,249 (GRCm39) I43T possibly damaging Het
Glb1l2 T C 9: 26,682,405 (GRCm39) I149V probably benign Het
Gm5084 T A 13: 60,360,639 (GRCm39) noncoding transcript Het
Gm5591 G T 7: 38,221,560 (GRCm39) P170T probably benign Het
Gucy2d A T 7: 98,107,475 (GRCm39) probably null Het
Itpr3 T C 17: 27,317,397 (GRCm39) F851L probably damaging Het
Kat2b T A 17: 53,970,666 (GRCm39) I684N probably damaging Het
Klra17 C A 6: 129,849,159 (GRCm39) K138N possibly damaging Het
Lrrc4 T A 6: 28,830,769 (GRCm39) H282L possibly damaging Het
Lyst T C 13: 13,931,938 (GRCm39) I3522T probably benign Het
Man2c1 A G 9: 57,044,000 (GRCm39) T312A probably damaging Het
Mapkbp1 A G 2: 119,844,214 (GRCm39) R313G probably damaging Het
N4bp2 G A 5: 65,969,320 (GRCm39) G1361R probably damaging Het
Nbas A T 12: 13,424,712 (GRCm39) I984F probably damaging Het
Ncor1 T A 11: 62,236,063 (GRCm39) Q579L possibly damaging Het
Nme9 A G 9: 99,341,755 (GRCm39) Y35C probably damaging Het
Or5w13 C A 2: 87,523,552 (GRCm39) V225F probably damaging Het
Ormdl1 T C 1: 53,348,093 (GRCm39) V145A probably damaging Het
Paxbp1 C A 16: 90,822,034 (GRCm39) probably null Het
Pcnx1 C A 12: 82,025,863 (GRCm39) S1530* probably null Het
Pogk A G 1: 166,226,733 (GRCm39) W473R probably damaging Het
Pot1b A T 17: 55,976,801 (GRCm39) S374T probably benign Het
Rcn1 A G 2: 105,229,402 (GRCm39) F50S probably damaging Het
Rcvrn T A 11: 67,593,767 (GRCm39) I186N probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 T A 4: 100,298,619 (GRCm39) I664N probably damaging Het
Sall2 G T 14: 52,552,211 (GRCm39) A326E probably damaging Het
Slc6a20b T A 9: 123,427,563 (GRCm39) S449C probably damaging Het
Slc9a3 A T 13: 74,312,406 (GRCm39) N668Y probably damaging Het
Slco1a8 A C 6: 141,918,073 (GRCm39) I601R probably benign Het
Sorcs2 T G 5: 36,200,796 (GRCm39) K584T probably damaging Het
Stam T C 2: 14,079,350 (GRCm39) M8T probably benign Het
Styk1 G A 6: 131,278,676 (GRCm39) P333S probably damaging Het
Sycp1 A G 3: 102,786,116 (GRCm39) C589R possibly damaging Het
Tas2r123 A G 6: 132,824,681 (GRCm39) I193V probably benign Het
Tnks1bp1 C A 2: 84,892,970 (GRCm39) Q304K probably damaging Het
Traf3ip2 T C 10: 39,502,473 (GRCm39) L207P probably damaging Het
Usp49 A G 17: 47,984,146 (GRCm39) S384G possibly damaging Het
Vezt T C 10: 93,856,486 (GRCm39) probably null Het
Vmn1r87 C A 7: 12,866,253 (GRCm39) M11I probably benign Het
Vmn2r39 A G 7: 9,026,489 (GRCm39) V504A probably benign Het
Wapl G A 14: 34,446,714 (GRCm39) A607T probably damaging Het
Zfp638 A G 6: 83,906,438 (GRCm39) N201S probably benign Het
Other mutations in Sh2d6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Sh2d6 APN 6 72,496,812 (GRCm39) missense probably benign
IGL01386:Sh2d6 APN 6 72,495,945 (GRCm39) missense probably benign 0.04
IGL02058:Sh2d6 APN 6 72,490,961 (GRCm39) nonsense probably null
IGL02950:Sh2d6 APN 6 72,492,285 (GRCm39) missense probably damaging 1.00
IGL02963:Sh2d6 APN 6 72,494,584 (GRCm39) missense probably benign 0.01
R1981:Sh2d6 UTSW 6 72,494,527 (GRCm39) splice site probably benign
R2304:Sh2d6 UTSW 6 72,497,542 (GRCm39) missense probably damaging 1.00
R4520:Sh2d6 UTSW 6 72,495,936 (GRCm39) missense possibly damaging 0.48
R4793:Sh2d6 UTSW 6 72,494,581 (GRCm39) missense probably benign
R7424:Sh2d6 UTSW 6 72,494,147 (GRCm39) missense probably benign 0.05
R9045:Sh2d6 UTSW 6 72,492,604 (GRCm39) missense probably benign 0.22
R9246:Sh2d6 UTSW 6 72,497,594 (GRCm39) nonsense probably null
RF013:Sh2d6 UTSW 6 72,493,371 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTCTGGTTTGTAATGCACAGG -3'
(R):5'- ACGGAGCTGTTAAGAAGCC -3'

Sequencing Primer
(F):5'- CAGAGGTTTCCTGGCATCTAG -3'
(R):5'- CGGAGCTGTTAAGAAGCCAATAAG -3'
Posted On 2016-06-06