Incidental Mutation 'IGL01552:Sh2d4b'
ID90594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2d4b
Ensembl Gene ENSMUSG00000037833
Gene NameSH2 domain containing 4B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01552
Quality Score
Status
Chromosome14
Chromosomal Location40813789-40893266 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40860648 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 195 (Q195R)
Ref Sequence ENSEMBL: ENSMUSP00000093699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096000]
Predicted Effect probably benign
Transcript: ENSMUST00000096000
AA Change: Q195R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833
AA Change: Q195R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik A G 3: 108,481,312 W252R possibly damaging Het
Arl8a T C 1: 135,152,868 probably null Het
Bivm A G 1: 44,126,773 N128D probably benign Het
Chil3 C A 3: 106,148,848 G330V probably damaging Het
Dscaml1 A G 9: 45,447,908 H155R probably damaging Het
Etl4 T A 2: 20,778,189 V687D probably damaging Het
Fbxw10 A T 11: 62,857,684 probably null Het
Gfpt2 G T 11: 49,805,005 E21* probably null Het
Gm10197 C T 19: 53,371,691 V26I possibly damaging Het
Gm4788 A G 1: 139,739,302 Y412H probably damaging Het
Gm6614 T C 6: 141,987,706 K451R possibly damaging Het
Golim4 T C 3: 75,956,195 E35G probably damaging Het
Igdcc4 A G 9: 65,122,502 probably benign Het
Ino80d A G 1: 63,057,977 probably benign Het
Ipo13 A G 4: 117,900,964 M734T probably benign Het
Klk1b27 C T 7: 44,054,615 L61F probably damaging Het
Lamtor5 T C 3: 107,279,008 V31A probably benign Het
Lrp1 A T 10: 127,588,510 L769* probably null Het
Nipsnap1 A T 11: 4,889,124 S135C probably damaging Het
Olfr1277 C A 2: 111,269,912 G152C probably damaging Het
Pparg A T 6: 115,490,122 H452L probably benign Het
Rab34 C T 11: 78,191,438 A202V probably damaging Het
Ryr3 T A 2: 112,825,883 T1923S possibly damaging Het
Sall4 A G 2: 168,756,123 S266P probably damaging Het
Sik2 C A 9: 50,917,522 probably benign Het
Slc25a36 A G 9: 97,079,233 V111A probably benign Het
Sptbn5 A T 2: 120,054,422 probably benign Het
Tac2 G A 10: 127,726,101 E25K possibly damaging Het
Tnc A G 4: 63,970,408 V1807A probably damaging Het
Top3b T C 16: 16,887,823 probably benign Het
Zfp827 A G 8: 79,076,191 E464G probably damaging Het
Other mutations in Sh2d4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Sh2d4b APN 14 40872533 missense probably benign 0.00
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
R6497:Sh2d4b UTSW 14 40874182 missense probably benign 0.07
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
R7947:Sh2d4b UTSW 14 40820766 missense probably damaging 1.00
Posted On2013-12-09