Incidental Mutation 'R7136:Sh2d4b'
ID 553094
Institutional Source Beutler Lab
Gene Symbol Sh2d4b
Ensembl Gene ENSMUSG00000037833
Gene Name SH2 domain containing 4B
Synonyms A430109M18Rik
MMRRC Submission 045220-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7136 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 40535746-40615223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40562209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 319 (T319S)
Ref Sequence ENSEMBL: ENSMUSP00000093699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070328] [ENSMUST00000096000]
AlphaFold A6X942
Predicted Effect probably benign
Transcript: ENSMUST00000070328
AA Change: T66S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000064708
Gene: ENSMUSG00000037833
AA Change: T66S

DomainStartEndE-ValueType
SH2 70 153 4.87e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096000
AA Change: T319S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833
AA Change: T319S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,560,610 (GRCm39) S262P probably damaging Het
Abcc2 A G 19: 43,825,899 (GRCm39) E1512G probably damaging Het
Abcg2 T G 6: 58,661,325 (GRCm39) Y459D possibly damaging Het
Amy1 T C 3: 113,357,248 (GRCm39) Y197C probably damaging Het
Bptf A G 11: 106,990,541 (GRCm39) I516T probably damaging Het
Capn12 T A 7: 28,582,532 (GRCm39) probably null Het
Cbln2 T A 18: 86,734,797 (GRCm39) L190Q probably damaging Het
Ccdc157 C T 11: 4,098,592 (GRCm39) E305K possibly damaging Het
Ccdc47 A G 11: 106,095,830 (GRCm39) S289P probably benign Het
Chd3 C T 11: 69,239,264 (GRCm39) E1756K probably null Het
Chrd G T 16: 20,553,272 (GRCm39) A183S possibly damaging Het
Cp C T 3: 20,039,822 (GRCm39) R880* probably null Het
Cyp24a1 A T 2: 170,336,063 (GRCm39) D191E probably benign Het
Dnah1 T C 14: 31,020,613 (GRCm39) Y1252C probably damaging Het
Eps8l1 A G 7: 4,480,403 (GRCm39) D487G probably damaging Het
Fam227b T G 2: 125,965,948 (GRCm39) Q159P probably damaging Het
Fat3 A G 9: 16,289,481 (GRCm39) I14T probably benign Het
Fbxl19 C A 7: 127,349,217 (GRCm39) T129N possibly damaging Het
Fuca2 T C 10: 13,381,665 (GRCm39) F193L probably benign Het
H2-Q1 T C 17: 35,539,603 (GRCm39) probably null Het
Hgh1 A G 15: 76,254,631 (GRCm39) M336V probably benign Het
Il12b T C 11: 44,298,857 (GRCm39) L104P probably benign Het
Kcnh2 A T 5: 24,537,989 (GRCm39) F125I probably benign Het
Kcnk7 A G 19: 5,756,104 (GRCm39) H110R probably benign Het
Kdm3a G A 6: 71,588,764 (GRCm39) P415L probably benign Het
Kifc3 T C 8: 95,830,077 (GRCm39) T610A probably benign Het
Krbox5 A G 13: 67,991,111 (GRCm39) probably null Het
Lmbr1l C A 15: 98,809,372 (GRCm39) probably null Het
Lmo7 T A 14: 102,157,975 (GRCm39) M1436K unknown Het
Lrp1 C T 10: 127,394,491 (GRCm39) C2574Y probably damaging Het
Med13l A G 5: 118,859,587 (GRCm39) E258G possibly damaging Het
Mesp1 T C 7: 79,442,906 (GRCm39) I124V probably damaging Het
Mrgpra2a A T 7: 47,076,934 (GRCm39) I108N probably benign Het
Nos1 G T 5: 118,033,925 (GRCm39) R349L possibly damaging Het
Or5k3 C T 16: 58,969,327 (GRCm39) T38I probably damaging Het
Or7c70 T C 10: 78,683,615 (GRCm39) I45V probably benign Het
Osgin1 T A 8: 120,168,176 (GRCm39) M1K probably null Het
Pde4dip C T 3: 97,601,379 (GRCm39) S2346N probably benign Het
Pde7a T C 3: 19,285,258 (GRCm39) M310V probably benign Het
Pigw G A 11: 84,768,585 (GRCm39) T248M probably damaging Het
Pink1 T C 4: 138,044,769 (GRCm39) T323A probably damaging Het
Polr3a C T 14: 24,511,883 (GRCm39) R891Q probably damaging Het
Prkar1b C A 5: 139,094,363 (GRCm39) C75F probably benign Het
Prss58 C T 6: 40,876,987 (GRCm39) probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pttg1ip2 A T 5: 5,516,631 (GRCm39) D63E possibly damaging Het
Qars1 T C 9: 108,389,971 (GRCm39) I350T probably damaging Het
Qprt T C 7: 126,707,984 (GRCm39) K149R probably damaging Het
Rasgrf1 T A 9: 89,873,651 (GRCm39) D653E probably damaging Het
Rbm26 T C 14: 105,381,703 (GRCm39) M481V possibly damaging Het
Rdx C T 9: 51,997,745 (GRCm39) T573M probably damaging Het
Rgs14 A G 13: 55,527,508 (GRCm39) probably null Het
Robo2 T C 16: 73,753,438 (GRCm39) E813G probably damaging Het
Rrbp1 A T 2: 143,791,600 (GRCm39) F1369I probably benign Het
Slc7a15 G T 12: 8,588,895 (GRCm39) N217K probably damaging Het
Stmn1 A G 4: 134,198,088 (GRCm39) K42E probably damaging Het
Tbl2 T G 5: 135,178,682 (GRCm39) W31G probably benign Het
Tmem8b T C 4: 43,669,845 (GRCm39) C114R possibly damaging Het
Tsc2 T C 17: 24,832,254 (GRCm39) S711G probably benign Het
Ttn T C 2: 76,666,904 (GRCm39) R11531G unknown Het
Ube2e3 T C 2: 78,744,085 (GRCm39) Y105H probably benign Het
Usp16 G T 16: 87,280,059 (GRCm39) C753F probably benign Het
Vmn1r13 T C 6: 57,187,239 (GRCm39) S133P possibly damaging Het
Vmn2r76 T A 7: 85,877,975 (GRCm39) Q474L probably benign Het
Vps52 T C 17: 34,184,262 (GRCm39) I601T probably benign Het
Wasf1 A T 10: 40,802,587 (GRCm39) T81S possibly damaging Het
Wdr82 A G 9: 106,048,532 (GRCm39) S39G probably benign Het
Zdhhc13 A G 7: 48,451,080 (GRCm39) I108V probably benign Het
Other mutations in Sh2d4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Sh2d4b APN 14 40,594,490 (GRCm39) missense probably benign 0.00
IGL01552:Sh2d4b APN 14 40,582,605 (GRCm39) missense probably benign
IGL02556:Sh2d4b APN 14 40,542,700 (GRCm39) missense probably benign 0.00
R0961:Sh2d4b UTSW 14 40,596,139 (GRCm39) missense probably benign 0.07
R1573:Sh2d4b UTSW 14 40,564,329 (GRCm39) critical splice donor site probably null
R1672:Sh2d4b UTSW 14 40,614,921 (GRCm39) start codon destroyed probably null 1.00
R2360:Sh2d4b UTSW 14 40,582,548 (GRCm39) critical splice donor site probably null
R3951:Sh2d4b UTSW 14 40,594,503 (GRCm39) missense probably damaging 0.98
R4728:Sh2d4b UTSW 14 40,564,389 (GRCm39) nonsense probably null
R4824:Sh2d4b UTSW 14 40,562,301 (GRCm39) missense probably benign 0.01
R6222:Sh2d4b UTSW 14 40,542,694 (GRCm39) missense probably damaging 1.00
R6497:Sh2d4b UTSW 14 40,596,139 (GRCm39) missense probably benign 0.07
R6541:Sh2d4b UTSW 14 40,542,748 (GRCm39) missense probably benign
R7864:Sh2d4b UTSW 14 40,562,208 (GRCm39) missense probably damaging 0.98
R7947:Sh2d4b UTSW 14 40,542,723 (GRCm39) missense probably damaging 1.00
R8843:Sh2d4b UTSW 14 40,614,832 (GRCm39) missense probably benign 0.15
R8886:Sh2d4b UTSW 14 40,595,946 (GRCm39) intron probably benign
R9292:Sh2d4b UTSW 14 40,537,914 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGGATTCTTGCCAAGAGTTGAA -3'
(R):5'- GAGATGCCTTCTCCATTCTACGC -3'

Sequencing Primer
(F):5'- TTCTTGCCAAGAGTTGAAGGAAG -3'
(R):5'- ACTCACATGGGTCAACTTGG -3'
Posted On 2019-05-15