Incidental Mutation 'R6497:Sh2d4b'
ID523078
Institutional Source Beutler Lab
Gene Symbol Sh2d4b
Ensembl Gene ENSMUSG00000037833
Gene NameSH2 domain containing 4B
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R6497 (G1)
Quality Score194.009
Status Validated
Chromosome14
Chromosomal Location40813789-40893266 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40874182 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
Ref Sequence ENSEMBL: ENSMUSP00000093699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096000]
Predicted Effect probably benign
Transcript: ENSMUST00000096000
AA Change: V81A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833
AA Change: V81A

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
coiled coil region 149 234 N/A INTRINSIC
SH2 323 406 4.87e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225854
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,805,105 Y399N probably damaging Het
Acsm3 G A 7: 119,780,749 probably null Het
Aldh16a1 T A 7: 45,144,937 S556C possibly damaging Het
Armc7 T C 11: 115,476,251 I74T probably benign Het
Atp13a4 T C 16: 29,479,901 D80G probably damaging Het
Bicral A T 17: 46,825,573 I237K probably damaging Het
Caskin1 T C 17: 24,504,548 V770A probably benign Het
Cd209c T C 8: 3,944,122 K113E possibly damaging Het
Cdh7 G A 1: 110,065,798 probably null Het
Clca3a1 A T 3: 144,759,259 V71D possibly damaging Het
Cntnap5a T C 1: 116,577,897 L1228P probably damaging Het
Cntrl A G 2: 35,135,572 N85D possibly damaging Het
Coch G A 12: 51,602,721 V272M probably benign Het
Col22a1 T C 15: 71,890,576 E78G possibly damaging Het
Cyp2c66 T A 19: 39,163,377 C179S probably damaging Het
Dsg3 A G 18: 20,537,248 I681V probably benign Het
Egflam A T 15: 7,251,303 probably null Het
Fut10 T A 8: 31,236,250 D344E probably damaging Het
Gad2 C T 2: 22,668,257 P329L probably damaging Het
Gm14393 T C 2: 175,061,634 E160G possibly damaging Het
Gprc6a T C 10: 51,615,701 I476V probably benign Het
Limk2 A G 11: 3,360,492 F71L probably benign Het
Neb A T 2: 52,258,289 N2648K possibly damaging Het
Olfr561 T A 7: 102,775,450 F309I probably benign Het
Olfr646 T C 7: 104,107,215 probably benign Het
Olfr933 G A 9: 38,976,194 V173I probably benign Het
Pcdhgb7 T A 18: 37,753,853 V692E probably damaging Het
Pclo A C 5: 14,793,855 K4802Q unknown Het
Primpol A T 8: 46,586,341 probably null Het
Prr14 C T 7: 127,474,578 R205C probably benign Het
Rbm12b1 T C 4: 12,146,431 I801T probably benign Het
Ror2 A T 13: 53,131,919 N86K probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,579,909 probably benign Het
Skint6 A G 4: 113,236,398 Y183H probably damaging Het
Snapc3 G T 4: 83,453,126 E388* probably null Het
Srrm4 A T 5: 116,467,491 S236T unknown Het
Srrt G T 5: 137,297,506 P193H probably damaging Het
Sspo A T 6: 48,495,208 T810S possibly damaging Het
Stk36 A G 1: 74,603,232 H6R probably damaging Het
Tiam2 A G 17: 3,506,827 T1181A probably damaging Het
Tmem184a A G 5: 139,813,000 F65L probably damaging Het
Vwa8 A G 14: 79,096,401 I1330M probably benign Het
Zfp827 T A 8: 79,180,128 M923K probably damaging Het
Other mutations in Sh2d4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Sh2d4b APN 14 40872533 missense probably benign 0.00
IGL01552:Sh2d4b APN 14 40860648 missense probably benign
IGL02556:Sh2d4b APN 14 40820743 missense probably benign 0.00
R0961:Sh2d4b UTSW 14 40874182 missense probably benign 0.07
R1573:Sh2d4b UTSW 14 40842372 critical splice donor site probably null
R1672:Sh2d4b UTSW 14 40892964 start codon destroyed probably null 1.00
R2360:Sh2d4b UTSW 14 40860591 critical splice donor site probably null
R3951:Sh2d4b UTSW 14 40872546 missense probably damaging 0.98
R4728:Sh2d4b UTSW 14 40842432 nonsense probably null
R4824:Sh2d4b UTSW 14 40840344 missense probably benign 0.01
R6222:Sh2d4b UTSW 14 40820737 missense probably damaging 1.00
R6541:Sh2d4b UTSW 14 40820791 missense probably benign
R7136:Sh2d4b UTSW 14 40840252 missense probably benign 0.08
R7864:Sh2d4b UTSW 14 40840251 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCTTAGATCTCCCCAAGACTC -3'
(R):5'- GCTGCCTAGAGGGAATGATG -3'

Sequencing Primer
(F):5'- AAGACTCCAGGCTCAGGC -3'
(R):5'- GGGAACTTCTTGAACCTGTATTCAG -3'
Posted On2018-06-06